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  • 1
    Electronic Resource
    Electronic Resource
    Oligohydramnion, renal failure and no pulmonary hypoplasia in glomerulocystic kidney disease (2000)
    Springer
    Pediatric nephrology 14 (2000), S. 319-321 
    Details
    ISSN: 1432-198X
    Keywords: Key words Glomerulocystic kidney disease ; Oligohydramnion ; Renal failure-neonate ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Two newborns with glomerulocystic kidney disease manifesting as late onset oligohydramnion and neonatal anuria, yet without severe respiratory distress, are presented. They had a similar perinatal course and associated clinical manifestations. No associated congenital or inherited malformation syndrome could be defined. Both infants’ parents were first degree cousins and belonged to the same small Bedouin tribe, and neither they nor the infants’ siblings had polycystic kidneys or renal insufficiency, pointing to either a possible genetic etiology or a common external toxic exposure.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004670050767
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  • 2
    Electronic Resource
    Electronic Resource
    Susceptibility to critical illness: reserve, response and therapy (2000)
    Springer
    Intensive care medicine 26 (2000), S. S057 
    Details
    ISSN: 1432-1238
    Keywords: Key words Critical illness ; Intensive care ; Severity of illness ; Scoring systems ; Genetics ; Susceptibility ; Education
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Risk of critical illness is determined both by genetic and environmental influences, particularly those relating to infectious and cardiovascular diseases. Physiologically-based scoring systems cannot measure prior risk because they do not quantify physiological reserve independently of the acute illness. Genetic profiling could be useful for risk assessment. Early detection of critical illness involves identifying physiological ’triggers' for referral; this requires the education of nursing and medical staff in their significance. Analysis of the relationship between risk factors and interventions may need complex modelling techniques. Therapeutic strategies depend on the nature of the underlying problem: the most useful are likely to be those which enhance tissue oxygen delivery and resistance to infection.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001340051120
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  • 3
    Electronic Resource
    Electronic Resource
    Aetiology of overweight and obesity in children and adolescents (2000)
    Springer
    European journal of pediatrics 159 (2000), S. S35 
    Details
    ISSN: 1432-1076
    Keywords: Key words Obesity ; Genetics ; Child ; Nutrient balance ; Energy balance ; Environment
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The epidemic diffusion of obesity in industrialised countries has promoted research on the aetiopathogenesis of this disorder. The purpose of this review is to focus mainly on the contribution that European research has made to this field. Available evidence suggests that obesity results from multiple interactions between genes and environment. Parents obesity is the most important risk factor for childhood obesity. Twin, adoption, and family studies indicated that inheritance is able to account for 25% to 40% of inter-individual difference in adiposity. Single gene defects leading to obesity have been discovered in animals and, in some cases, confirmed in humans as congenital leptin deficiency or congenital leptin receptor deficiency. However, in most cases, genes involved in weight gain do not directly cause obesity but they increase the susceptibility to fat gain in subjects exposed to a specific environment. Both genetic and environmental factors promote a positive energy balance which cause obesity. The relative inefficiency of self-adapting energy intake to energy requirements is responsible for fat gain in predisposed individuals. The role of the environment in the development of obesity is suggested by the rapid increase of the prevalence of obesity accompanying the rapid changes in the lifestyle of the population in the second half of this century. Early experiences with food, feeding practices and family food choices affect children's nutritional habits. In particular, the parents are responsible for food availability and accessibility in the home and they affect food preferences of their children. Diet composition, in particular fat intake, influences the development of obesity. The high energy density and palatability of fatty foods as well as their less satiating properties promotes food consumption. TV viewing, an inactivity and food intake promoter, was identified as a relevant risk factor for obesity in children. Sedentarity, i.e. a low physical activity level, is accompanied by a low fat oxidation rate in muscle and a low fat oxidation rate is a risk factor of fat gain or fat re-gain after weight loss. Conclusion Further research is needed to identify new risk factors of childhood obesity, both in the genetic and environmental areas, which may help to develop more effective strategies for the prevention and treatment of obesity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014361
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  • 4
    Electronic Resource
    Electronic Resource
    Bridging the gap between molecular genetics and metabolic medicine: access to genetic information (2000)
    Springer
    European journal of pediatrics 159 (2000), S. S183 
    Details
    ISSN: 1432-1076
    Keywords: Key words Database ; Genetics ; Information services ; Internet ; Mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Thanks to the World Wide Web, most results of research in genetics are made available in public databases. At the present time there are resources on genetic diseases, genes and their location, mutations of already cloned genes and on laboratories performing the mutation analysis. The main resources on phenotypes are On-line Mendelian Inheritance in Man (OMIM), Pedbase, GeneClinics, London Dysmorphology Database (LDDB) and Orphanet. The main resources on human genes are, in addition to OMIM, the Genome Database, Genatlas and Genecard. There are also two major sequence databases. All of them can be queried using the OMIM number of the disease. Central databases of mutations, as well as locus specific databases have been created. Their list is maintained at the Human Genome Organisation mutation database initiative website. Several initiative have been taken to integrate all these data and help the clinician to find out quickly what he/she needs. The website of the National Center for Biotechnology Information is the best example of such an effort with sections on diseases, a genome guide, and locus links. Several databases of genetic testing resources have been established. GeneTests is an on-line genetics resource that contains a directory of North American laboratories providing testing for heritable disorders. Orphanet is a similar database on French services which is in the process of becoming a European database. Conclusion Even if clinicians do not have as many services at their disposal as the molecular geneticists, various useful databases already exist and should no longer be ignored in practice.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014399
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  • 5
    Electronic Resource
    Electronic Resource
    Genetic determinants of hyperhomocysteinaemia: the roles of cystathionine β-synthase and 5,10-methylenetetrahydrofolate reductase (2000)
    Springer
    European journal of pediatrics 159 (2000), S. S208 
    Details
    ISSN: 1432-1076
    Keywords: Key words Cardiovascular disease ; Cystathionine β-synthase ; Genetics ; Methylenetetrahydrofolate reductase ; Mild hyperhomocysteinaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Over the last decade mild hyperhomocysteinaemia has widely been recognised as a new risk factor for arteriosclerosis and thrombosis. Main regulating enzymes of homocysteine (Hcy) metabolism are cystathionine β-synthase (CBS), methionine synthase and methylenetetrahydrofolate reductase (MTHFR). Early studies on patients with vascular disease described elevated Hcy concentrations after methionine loading and decreased CBS activity, resembling heterozygotes for CBS deficiency. Therefore, heterozygosity for CBS deficiency was proposed as the main cause of mild hyperhomocysteinaemia. However, more recent enzymatic and molecular genetic studies have demonstrated that heterozygosity for CBS deficiency is not or only a very minor cause of mild hyperhomocysteinaemia in vascular disease. We discovered two common genetic causes of mild hyperhomocysteinaemia, the 677C 〉 T and the 1298A 〉 C mutations in the coding region of MTHFR. The 677C 〉 T mutation causes reduced enzyme activity with thermolabile protein properties, elevated Hcy and low-normal or decreased plasma folate levels. The 1298A 〉 C mutation relates also to decreased enzyme activity, but not to thermolabile protein, and Hcy and folate levels are not influenced. However, compound heterozygosity for these two mutations, i.e. individuals with the 677CT/1298AC genotype, have elevated Hcy and decreased plasma folate levels. Gene-enviroment interactions between 677C 〉 T and folate is demonstrated in individuals with the 677TT genotype. Those with low-normal folate have elevated Hcy, whereas those with high-normal folate have normal Hcy concentrations. The elevated Hcy levels due to these mutations can be normalised by administration of folate, but whether folate reduces the risk of cardiovascular disease remains to be established. Conclusion Heterozygosity for cystathionine β-synthase deficiency is a minor cause of hyperhomocysteinaemia. The current data on mutations in the methylenetetrahydrofolate reductase gene do not tell us whether elevated plasma homocysteine plays a causal role in vascular disease. Low cellular vitamin status may be a possible cause and homocysteine may just be a marker for this situation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014405
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  • 6
    Electronic Resource
    Electronic Resource
    Progress in the clinical and molecular genetics of familial parkinsonism (2000)
    Springer
    Neurogenetics 2 (2000), S. 207-218 
    Details
    ISSN: 1364-6753
    Keywords: Key words Parkinson's disease ; Familial Parkinson's disease ; Synuclein ; Parkin ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: ABSTRACT¶Parkinson's disease (PD) is a neurodegenerative disease with clinical features resulting from deficiency of dopamine in the nigrostriatal system. Most PD cases are sporadic and the primary cause of the disease is still unknown. Recently, familial PD and parkinsonism have received much attention because these forms of the disease might provide clues to the genetic risk factors involved in the pathogenesis of idiopathic PD. To date, two causative genes, α-synuclein and the parkin gene, have been identified. α-Synuclein is involved in the pathogenesis of an autosomal dominant form of PD and constitutes a major component of the Lewy body, which is a pathological hallmark of idiopathic PD. In addition, mutations in the parkin gene have been identified as the cause of autosomal recessive juvenile parkinsonism (AR-JP). AR-JP manifests itself as a highly selective degeneration of the substantia nigra and the locus coeruleus, but without Lewy body formation. In addition to these two genes, four chromosomal loci have been linked to other forms of familial PD. Furthermore, there are a number of other pedigrees of familial PD in which linkage to known genetic loci has been excluded. Molecular cloning of these disease genes and elucidation of the function of their gene products will greatly contribute to our understanding of the pathogenesis of idiopathic PD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100489900083
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  • 7
    Electronic Resource
    Electronic Resource
    Molecular variation within the dopamine receptor DRD2 gene in migraine (2000)
    Springer
    The journal of headache and pain 1 (2000), S. S147 
    Details
    ISSN: 1129-2377
    Keywords: Key words Dopamine ; Migraine ; Genetics ; DRD2
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Molecular genetics offers a novel approach to the understanding and management of migraine since the disorder is known to have a strong genetic component. In recent studies, polymorphisms in the genes for dopamine receptors have been evaluated. Both positive and negative association studies have been reported. In particular, these data suggest that activation of the DRD2 receptor plays a modifying role in the pathophysiology of migraine. As a result, existing data provide a molecular rationale for the documented efficacy of dopamine D2 receptor antagonists in the treatment of migraine. Therefore, at the present time, molecular genetic data provide support for the hypothesis that susceptibility to migraine may be modified, in part, by variations in dopamine DRD2 receptor function.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s101940070009
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  • 8
    Electronic Resource
    Electronic Resource
    Genetic factors in migraine and chronic tension-type headache (2000)
    Springer
    The journal of headache and pain 1 (2000), S. S157 
    Details
    ISSN: 1129-2377
    Keywords: Key words Migraine ; Chronic tension type headache ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Pathophysiological studies have dominated migraine research for several years. However, these studies are difficult to interpret because it is difficult to decide whether the observed phenomena are primary or secondary to the migraine attack. For that reason it is important that future migraine research focus on studies that concern migrain etiology. Migraine is a paroxysmal disorder. It is most likely and ion-channel disorder like familial hemiplegic migraine. The present paper focuses on genetic factors in migraine and chronic tension-type headache.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s101940070011
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  • 9
    Electronic Resource
    Electronic Resource
    A study of Italian families with cluster headache (2000)
    Springer
    The journal of headache and pain 1 (2000), S. S165 
    Details
    ISSN: 1129-2377
    Keywords: Key words Cluster headache ; Familial occurrence ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A Danish genetic study showed increased risk of cluster headache (CH) among relatives of CH patients. We studied the families of 191 CH patients (118 males, 73 females; mean age 45.9 years) attending the Milan Headache Center. Information on 3589 relatives was collected by direct interview of the probands (n = 118) or by mailed questionnaire (n = 73). The diagnostic criteria of the IHS were used. A positive family history was found in 19% (37 of 191) of the families. A total of 32 first-degree (32 of 1036, 3.1%) and 15 second-degree (15 of 2553, 0.6%) relatives were affected. The relative risk of CH was 26.89 (95% CI, 17.57–36.21) in the first-degree relatives and 4.35 (95% CI, 2.13–5.21) in second-degree relatives. This study shows increased familial risk of cluster headache in an Italian population and confirms that cluster headache is, in some families, and inherited disorder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s101940070012
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  • 10
    Electronic Resource
    Electronic Resource
    Molecular genetics and migraine (2000)
    Springer
    The journal of headache and pain 1 (2000), S. S135 
    Details
    ISSN: 1129-2377
    Keywords: Key words Migraine ; Headache ; Genetics ; Serotonin ; Dopamine ; Mitochondria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Migraine carries a significant hereditary determination. Familial hemiplegic migraine (FHM) has been recently linked to mutations in the CACNA1A gene on chromosome 19. CACNA1A codes for a subunit of a neural calcium channel. Other linkage loci on chromosome 1q21-23 and 1q31 have been reported. Several linkage and association studies have been performed to determine the role of the CACNA1A gene, and of other candidate genes implicated in the metabolism of serotonin and dopamine, in the more common types of migraine. Co-morbidity of migraine with vascular events has been analysed versus genetic prothrombotic factors and mitochondrial DNA, and genes involved in the inflammatory cascade have been explored. Though no definite conclusions have emerged from these studies as yet, molecular genetics of migraine can be expected to unravel the complex aetiologies of these fascinating diseases.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s101940070007
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  • 11
    Electronic Resource
    Electronic Resource
    Dopamine genes and migraine (2000)
    Springer
    The journal of headache and pain 1 (2000), S. S153 
    Details
    ISSN: 1129-2377
    Keywords: Key words Migraine ; Genetics ; Dopamine ; Hypersensitivity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Migraine is a common chronic disorder with an etiology still mostly unknown. Several neurotransmitters such as dopamine and serotonin are considered to be involved in the pathogenesis of the disease and the study of their systems is crucial in the understanding of migraine. Dopaminergic receptors are variously represented in human CNS and periphery. The hypothesis that a hypersensitivity of the dopaminergic system may have a role in migraine is based on clinical and genetic data. Genetic data are represented by association studies using dopaminergic genes as candidate genes which show that the D2 receptor gene appears to be involved in the pathogenesis of migraine.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s101940070010
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  • 12
    Electronic Resource
    Electronic Resource
    HLA and migraine genes (2000)
    Springer
    The journal of headache and pain 1 (2000), S. S141 
    Details
    ISSN: 1129-2377
    Keywords: Key words Migraine ; Genetics ; Human leukocyte antigens ; Heredity ; Susceptibility
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Human leukocyte Antigens (HLA) are encoded by genes located on chromosome 6p21. Genes important in migraine are being recognized in two basic ways: association studies and linkage analysis. One of the strongest associations is with the HLA region. Actually, genome scan studies suggest that multiple genes are involved in both migraine without aura (MWoA) and migraine with aura (MWA). However, both MWoA and MWA are disorders in which multiple factors, including environmental and genetic factors, confer disease susceptibility. Linkage analysis is identifying new candidate genes that will help to explain the etiology of migraine. In this review previous studies regarding genetic susceptibility to migraine are analyzed, particularly those related to the HLA region. I discuss evidence that HLA shared-hyplotypes in MWoA-affected pairs in different than that expected, that HLA-DR2 antigen provides additional basis for the proposed genetic heterogeneity between MWoA and MWA, and lastly that TNFB gene studies seem to play an important role in the susceptibility to MWoA. In the past years, major advances hae been made in understanding the genetic foundation of MWoA and MWA. Our reported genome-scan studies support the concept that MWoA/MWA are coinherited with a particular HLA region. However, the examination of candidate genes (Ca2+ channel, vascular, CNS, etc.) in a large migraine population seems to be the correct direction in which we have to move. More MWoA/MWa gene studies are needed to test this developing hypothesis and to further establish the complete genetic scenario of migraine.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s101940070008
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  • 13
    Electronic Resource
    Electronic Resource
    A novel hypersensitive resistance response against potato virus A in cultivar ’Shepody’ (2000)
    Springer
    Theoretical and applied genetics 100 (2000), S. 401-408 
    Details
    ISSN: 1432-2242
    Keywords: Key words Complementary genes ; Extreme virus resistance ; Genetics ; Necrotic tubers ; Restricted virus distribution ; Solanum tuberosum
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  The potato cultivar ’Shepody’ is susceptible to a number of potato viruses including potato virus Y (PVY, potyvirus) but was found to possess extreme resistance to another potyvirus, potato virus A (PVA). ’Shepody’ plants were resistant to PVA infection in manual and graft inoculations. PVA replication was not detected in any of the inoculated plants by ELISA, an infectivity assay and RT-PCR. However, ’Shepody’ plants grafted with shoots containing PVA developed a novel symptomology which resembled a virus infection in appearance and in rate of translocation to the entire plant. Efforts to transmit the symptom-inducing agent manually failed. Graft-inoculation to potato virus indicator plants and PVA-susceptible potato plants showed that the symptom inducer was PVA at an extremely low concentration, detected using RT-PCR followed by Southern blot assay. Tubers from grafted but resistant ’Shepody’ plants had necrotic surfaces and internal spots. PVA was detected from necrotic areas but not from the non-necrotic ones. However, plants resulting from necrotic tubers were free from aerial leaf symptoms observed in grafted plants and produced non-necrotic normal tubers. A trace-back of the parental lineage of ’Shepody’ indicated that the resistance had been introgressed from the cultivar ’Bake King’. Analysis of progeny of a cross of resistant ’Shepody’ to the susceptible ’Goldrus’ indicated that this resistance is controlled by two independent dominant complementary genes in contrast to monogenic resistance reported for other potato viruses.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001220050053
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  • 14
    Electronic Resource
    Electronic Resource
    Characterisation and analysis of microsatellite loci in a mangrove species, Avicennia marina (Forsk.) Vierh. (Avicenniaceae) (2000)
    Springer
    Theoretical and applied genetics 101 (2000), S. 279-285 
    Details
    ISSN: 1432-2242
    Keywords: Key words Avicennia marina ; Microsatellite ; Mangrove ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  An enriched microsatellite library of the mangrove species Avicennia marina was constructed, in which 85.8% of the clones contained microsatellite sequences. Of the microsatellite repeat sequences isolated, 55.0% were di-nucleotides, 34.2% were tri-nucleotides, 50.0% were perfect, 24.2% were imperfect, and 15.0% were compound. Four different di-nucleotide repeats were isolated with repeat lengths ranging from 5 to 33; ten different tri-nucleotide repeats were isolated with repeat lengths ranging from 3 to 25. The most common di-nucleotide was the AC/TG repeat; the most common tri-nucleotide was the CCG/GGC repeat. Sixteen microsatellite sequences were selected for primer design, and 6 primers were selected to investigate the polymorphism detected among 15 individuals of A. marina from three natural populations in Australia. A total of 40 alleles were detected at 6 microsatellite loci. The number of alleles per microsatellite locus ranged from 5 to 13. On average, 7 alleles were detected per locus. All microsatellite loci showed high levels of gene diversity (heterozygosity), with values ranging from 0.53 to 0.88; the mean value of gene diversity was 0.70. Microsatellite loci were also tested for conservation across Avicennia species. There was a decline in amplification success with increasing divergence between Avicennia species. The results indicate that microsatellites are abundant in the Avicennia genome and can be valuable genetic markers for assessing the effects of deforestation and forest fragmentation in mangrove communities, which is an important issue for mangrove conservation and afforestation schemes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001220051480
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  • 15
    Electronic Resource
    Electronic Resource
    Re-examination of (in)compatibility genotypes of two John Innes self-compatible sweet cherry selections (2000)
    Springer
    Theoretical and applied genetics 101 (2000), S. 234-240 
    Details
    ISSN: 1432-2242
    Keywords: Key words Cherry ; Genetics ; Compatibility ; Incompatibility ; Isoelectric focusing ; Prunus avium ; Ribonuclease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  The (in)compatibility genotypes of two self-compatible sweet cherry selections, JI 2420 and JI 2434, originating from the John Innes Institute were re-examined. The selections and seedlings derived from them were analysed for stylar ribonucleases, which are known to correlate with S alleles, and the outcome of test crosses was recorded. JI 2420, which had been reported previously as S 3 S 4 ", where " indicates loss of pollen activity, was deduced to have the genotype S 4 S 4 ’. For JI 2434, which had been reported previously as S 3 S 4 0 , S 3 S 3 0 or S 3 S 3 ", where 0 indicates loss of pollen and stylar activity, two different clones were identified. One, at East Malling, was deduced to be S 3 "S 4 ; the other, at Ahrensburg, appeared to be S 3 S 3 " or S 3 S 3 0 .
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001220051474
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  • 16
    Electronic Resource
    Electronic Resource
    Association of TNFA gene polymorphism at position –308 with susceptibility to irritant contact dermatitis (2000)
    Springer
    Immunogenetics 51 (2000), S. 201-205 
    Details
    ISSN: 1432-1211
    Keywords: Key words Skin ; Genetics ; TNFA ; ¶Inflammation ; PCR-RFLP
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract  Mechanisms underlying susceptibility to skin irritants are not clearly understood. Cytokines play a key role in inflammation, and functional polymorphisms in cytokine genes may affect responses to irritants. We investigated the relationship between polymorphism in the tumor necrosis factor (TNF) α-chain gene and responses to irritants. Volunteers (n=221) tested with sodium dodecyl sulfate (SDS) and benzalkonium chloride (BKC) were divided into responders and nonresponders and high and low irritant-threshold groups. DNA was assayed for the TNF-308 polymorphism by a polymerase chain reaction-restriction fragment length polymorphism method. There was a significant increase in the A allele (P=0.030) and AA genotype (P=0.023) in both the SDS low irritant-threshold group and in SDS responders (A allele P=0.022, AA genotype P=0.048). In the BKC low irritant-threshold group, we found a significant increase in the A allele (P=0.002) and AA genotype (P=0.016). Individuals with a low threshold to both irritants demonstrated a significant increase (P=0.002) in the A allele. This is the first description of a nonatopic genetic marker for irritant susceptibility in normal individuals. Genotyping for theTNF-308 polymorphism may thus contribute to screening of individuals deemed at risk of developing irritant contact dermatitis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002510050032
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  • 17
    Electronic Resource
    Electronic Resource
    Progressive supranuclear palsy: earlier age of onset in patients with the τ protein A0/A0 genotype (2000)
    Springer
    Journal of neurology 247 (2000), S. 206-208 
    Details
    ISSN: 1432-1459
    Keywords: Key words Progressive ¶supranuclear palsy ; Genetics ; Clinical characteristics ; Parkinsonism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Genetic studies have detected an association between the presence of the τ gene A0 allele and patients with progressive supranuclear palsy (PSP). This study examined whether patients with this polymorphism exhibit distinct demographic or clinical characteristics. We studied 26 patients who fulfilled clinical criteria for the diagnosis of PSP, 20 who had the A0/A0 genotype and 6 who had other genotypes. A questionnaire on demographic data, past medical history, familial history, and initial symptoms was completed as part of the consultation. A complete neurological examination was performed and PSP symptoms were quantified following Golbe’s PSP disability scale. We found a significant difference in the age at onset of PSP symptoms, which was 65.9 ± 5.3 years in the A0/A0 group and 71.2 ± 5.6 in the non-A0/A0 group (P = 0.016). There were no significant differences in the years from disease onset between the two groups. Symptom severity did not differ significantly in patients with the different A0/A0 genotypes. The detection of significantly lower age at onset with the A0/A0 alleles is consistent with the known association of this genotype as a risk factor for PSP. No significant differences were detected in symptom severity between the two groups of patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150050564
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  • 18
    Electronic Resource
    Electronic Resource
    Genotyping of presenilin-1 polymorphism in amyotrophic lateral sclerosis (2000)
    Springer
    Journal of neurology 247 (2000), S. 940-942 
    Details
    ISSN: 1432-1459
    Keywords: Key words Amyotrophic lateral sclerosis ; Genetics ; Presenilin-1 intron 8 polymorphism ; Apoptosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The mechanisms underlying motor neuron degeneration in amyotrophic lateral sclerosis are not fully understood. Recent studies suggest that apoptosis is involved in the abnormal neural death that occurs in this devastating disease. Presenilin-1, a transmembrane protein, seems to be implicated in apoptosis. To determine whether presenilin-1 intron 8 polymorphism has an influence in the course of amyotrophic lateral sclerosis, we examined this polymorphism genotypes in a large group of patients (n=72) with amyotrophic lateral sclerosis and in a random sample of 213 healthy individuals. The results showed a significant difference in genotype (P 〈 0.04) and allele (P 〈 0.03) distribution between patients and controls. These results suggest a possible intervention of presenilin-1 in the pathogenesis of amyotrophic lateral sclerosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150070050
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  • 19
    Electronic Resource
    Electronic Resource
    The monoamine oxidase B gene GT repeat polymorphism and Parkinson’s disease in a Chinese population (2000)
    Springer
    Journal of neurology 247 (2000), S. 52-55 
    Details
    ISSN: 1432-1459
    Keywords: Key words Parkinson’s disease ; Monoamine oxidase B ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Monoamine oxidase B (MAOB) metabolises dopamine and activates neurotoxins known to induce parkinsonism in humans and primates. Therefore the MAOB gene (MAOB; Xp15.21–4) is a candidate gene for Parkinson’s disease (PD). Longer length dinucleotide repeat sequences in a highly polymorphic GT repeat region of intron 2 of this gene showed an association with PD in an Australian cohort. We repeated this allele-association study in a population of 176 Chinese PD patients ¶(90 men, 86 women) and 203 age-matched controls (99 men, 104 women). Genomic DNA was extracted from venous blood and the polymerase chain reaction was used to amplify the appropriate regions of the MAOB gene. The length of each (GT) repeat sequence was determined by 5% polyacrylamide denaturing gel electrophoresis. There was no significant difference in allele frequencies of the (GT) repeat allelic variation between patients and controls (χ2 = 2.48; df = 5, P 〈 0.75). Therefore the longer length GT repeat alleles are not associated with PD in this Chinese population. Possible reasons for the discrepancy between Chinese and Australian populations include a different interaction between this genetic factor and environmental factors in the two populations and the possibility that the long length GT repeat alleles may represent a marker mutation, genetically linked to another susceptibility allele in whites but not in Chinese. Methodological differences in the ascertainment of cases and controls in this cohort could also explain the observed differences. Further study is required to determine whether the longer length GT repeat alleles are true susceptibility alleles in PD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150050010
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  • 20
    Electronic Resource
    Electronic Resource
    ICAM-1 gene is not associated with multiple sclerosis in sardinian patients (2000)
    Springer
    Journal of neurology 247 (2000), S. 677-680 
    Details
    ISSN: 1432-1459
    Keywords: Key words Multiple sclerosis ; Genetics ; ICAM-1 gene
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An increased amount of the intercellular adhesion molecule (ICAM) 1 molecule has been found in the blood of actively relapsing multiple sclerosis (MS) patients, but is unclear whether this enhanced expression is partially causative of the MS process, or whether it is merely an epiphenomenon of the inflammatory-immunological reaction. Using the transmission disequilibrium test (TDT), we studied exon 4 and exon 6 polymorphism of the ICAM-1 gene from 157 families with both parents, one affected and one healthy sib coming from Sardinia, an Italian island having a high incidence and prevalence of MS. TDT did not show variation in the expected 50:50 frequency in transmission in either healthy or affected sibs, using phenotypic or genotypic analysis. Moreover, independence from the predisposing HLA-DRB1-DQA1-DQB1 haplotype was confirmed by TDT analysis performed on the patients stratified according to the presence or absence of the HLA-DRB1, DQA1, DQB1 Sardinian predisposing haplotypes. Our data suggest that the increased expression of the ICAM-1 molecule observed in both blood and periplaque microvessels may be considered a consequence of the inflammatory process rather than the result of a genetic variation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150070109
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  • 21
    Electronic Resource
    Electronic Resource
    Vascular risk factors in dementia (2000)
    Springer
    Journal of neurology 247 (2000), S. 81-87 
    Details
    ISSN: 1432-1459
    Keywords: Key words Dementia ; Vascular ¶dementia ; Alzheimer’s disease ; Risk factors, stroke ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This review describes differing profiles of vascular risk factors in different types of dementia. Although vascular risk factors are related to various types of strokes, their independent effect on the occurrence of poststroke dementia appears to be small. Various risk factors have been identified for microangiopathy-related cerebral abnormalities, such as white matter changes and lacunae, which are the core lesions for the development of a vascular dementia syndrome without stroke symptoms. Most consistently, arterial hypertension and diabetes mellitus have been found to be associated with such brain abnormalities. Diastolic blood pressure seems to be of particular importance as recent investigations demonstrate that this factor is related to the course of multiple lacunar strokes and the progression of white matter disease. Epidemiological studies report that various vascular risk factors including arterial hypertension, diabetes mellitus, and atrial fibrillation may also be associated with Alzheimer’s disease. There is also evidence of a direct relationship between Alzheimer’s disease and general atherosclerosis. Further investigations are needed to determine whether these associations are due to the weakness of diagnostic criteria, or whether vascular risk factors indeed modulate the clinical expression of primary degenerative dementia. Common susceptibility genes leading to shared risk factors may be one of the reasons for a higher coincidence of Alzheimer’s disease and vascular dementia than can be expected by chance. A modulatory effect of vascular risk factors in the development of primary degenerative dementia may extend treatment options.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150050021
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  • 22
    Electronic Resource
    Electronic Resource
    Incidence of CSF abnormalities in siblings of multiple sclerosis patients and unrelated controls (2000)
    Springer
    Journal of neurology 247 (2000), S. 616-622 
    Details
    ISSN: 1432-1459
    Keywords: Key words Multiple sclerosis ; Siblings ; Genetics ; Oligoclonal bands ; Measles
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We found that 19% (9/47) of healthy siblings of patients with clinically definite multiple sclerosis had an intrathecal immunological reaction with two or more 2 CSF-enriched oligoclonal bands (OCBs), in contrast to (4%) (2/50) unrelated healthy controls. Furthermore, in this group of nine healthy sibs the measles CSF IgG antibody titers were higher than that of the other sibs and that of controls. There were also differences in the serum titers for measles IgG antibody, which were higher in the group of all healthy sibs than in healthy volunteers, and (as with CSF titers) higher in the subgroup of healthy sibs with two or more 2 CSF-enriched OCBs than the other sibs. Thus a significant proportion of healthy siblings to MS patients have a partially hyperimmune condition similar to that occurring in MS, which in 19% manifested itself as an OCB reaction, in 9% as increased CSF measles IgG antibody titers, and in 21% as increased serum measles IgG antibody titers, these phenomena tending to occur in the same individuals. This condition is characterized by CSF-enriched OCBs with undefined specificity, although some increased antiviral reactivity is found both in the serum and CSF. While it needs further characterization, a genetic trait interacting with common infections is suggested. The recurrence risk of this condition is approximately five times higher than the 3–4% recurrence risk for manifest MS reported for sibs.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150070130
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  • 23
    Electronic Resource
    Electronic Resource
    Dopamine D4 receptor gene polymorphism and personality traits in healthy volunteers (2000)
    Springer
    European archives of psychiatry and clinical neuroscience 250 (2000), S. 203-206 
    Details
    ISSN: 1433-8491
    Keywords: Key words Dopamine receptor D4 ; Genetics ; Personality inventory ; Polymorphism ; Excitement-Seeking
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An association between long alleles of a variable number tandem repeat (VNTR) polymorphism in the dopamine receptor D4 gene and the extraversion related personality traits Excitement and Novelty Seeking has been reported in healthy subjects. In an attempt to replicate the previous findings, 256 healthy Caucasian volunteers were analysed for a potential relationship between the dopamine receptor D4 exon III VNTR polymorphism and Extraversion as assessed by the Revised Neo Personality Inventory (NEO PI-R). The present study did not yield evidence for an association between Extraversion and the dopamine receptor D4 polymorphism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004060070025
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  • 24
    Electronic Resource
    Electronic Resource
    Dopamine D3 receptor variant and tardive dyskinesia (2000)
    Springer
    European archives of psychiatry and clinical neuroscience 250 (2000), S. 31-35 
    Details
    ISSN: 1433-8491
    Keywords: Key words Pharmacogenetics ; Genetics ; Risk factor ; Choreoathetotic movements
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In the search for genetic factors contributing to tardive dyskinesia, dopamine receptor genes are considered major candidates. The dopamine D3 receptor is of primary interest as dopamine D3 receptor knock-out mice show locomotor hyperactivation resembling extrapyramidal side-effects of neuroleptic treatment. Furthermore, Steen and colleagues (1997) recently reported an association between tardive dyskinesia and a dopamine D3 receptor gene variant. In the present study we tried to replicate this finding. We investigated 157 patients with schizophrenia or schizoaffective disorder receiving long-term neuroleptic medication who never or persistently displayed tardive dyskinesia. As advanced age is a main risk factor for tardive dyskinesia, we also compared older patients with a long duration of schizophrenia not displaying tardive dyskinesia to younger patients with a shorter duration of the illness displaying tardive dyskinesia. However, we found no evidence that the dopamine D3 receptor gene is likely to confer susceptibility to the development of tardive dyskinesia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00007536
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  • 25
    Electronic Resource
    Electronic Resource
    Cavernous angiomas of the nervous system in Italy: clinical and genetic study (2000)
    Springer
    Neurological sciences 21 (2000), S. 129-134 
    Details
    ISSN: 1590-3478
    Keywords: Key words Nervous system ; Cavernous angiomas ; Genetics ; Onset symptoms
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We performed a clinical and genetic study of patients affected by cavernous angiomas (CA) of the nervous system. We examined initial signs and symptoms in sporadic and familial cases. We obtained clinical, neuroimaging and genetic data on 15 Italian patients with CA of the nervous system with positive, doubtful or apparently negative family history. Genetic markers surrounding three different gene regions (7q, 3q and 7p) were analysed. In one small family, genetic linkage was consistent with all chromosome loci. In another family with the unusual association of cerebral and spinal CA, linkage with chromosome 7q and, likely, 7p was excluded, while linkage with locus 3q was possible. Our results indicate that Italian families with CA may show genetic heterogeneity. Non-specific and subtle onset symptoms hide the presence of CA within families. Patients with multiple CA may have silent cerebral lesions confirming the low penetrance of clinical signs in spite of radiological ones.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100720070087
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  • 26
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    Electronic Resource
    A pathophysiological study of neuronal ceroid lipofuscinoses in 17 patients: critical review and methodological proposal (2000)
    Springer
    Neurological sciences 21 (2000), S. S89 
    Details
    ISSN: 1590-3478
    Keywords: Key words Evoked potentials ; Ceroid lipofuscinoses ; Mutation ; Classification ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The importance of visual evoked potential (VEPs) and electroencephalography for diagnosing and distinghishing the infantile (INCL), late-infantile (LINCL) and juvenile (JNCL) forms of neuronal ceroid lipofuscinoses (NCL) is well established. Variant forms with protracted clinical courses and atypical symptoms have been described recently, whose neurophysiological characteristics sometimes overlap those of LINCL and JNCL. It is unclear whether these variant forms are due to phenotypic variability of known genetic defects, or represent new mutations. Twenty-eight NCL patients have been diagnosed at our institute; a proportion of them were investigated genetically. In 17 we performed neurophysiological investigations including VEPs, brainstem auditory (BAEP) and upper limb somatosensory (SEP) evoked potentials. We found typical and diagnostic electrophysiological involvement of the visual system in 8 patients with classic forms of NCL. Furthermore, the distinctive features of the multimodal evoked potentials in most of the six patients with variant NCL suggest that these are distinct genetic entities.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100720070046
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  • 27
    Electronic Resource
    Electronic Resource
    Alcohol-sensitive hereditary essential myoclonus with dystonia: a study of 6 Brazilian patients (2000)
    Springer
    Neurological sciences 21 (2000), S. 373-377 
    Details
    ISSN: 1590-3478
    Keywords: Key words Myoclonus-dystonia ; Essential myoclonus ; Dystonia ; Alcohol ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We present the clinical profile of a group of patients with myoclonus and dystonia sensitive to alcohol and address these cases in the context of essential myoclonus. Six patients from 4 families were selected: 4 men and 2 women with myoclonus affecting predominantly the arms. Active movements of these segments elicited the dystonic and myoclonic movements. A marked improvement with alcohol intake was seen. Laboratory findings including EEG, SSEP, and cranial CT and MRI were normal. Surface EMG recording showed bursts with duration of 30–112 ms in 3 patients. One patient showed a triphasic recording pattern (agonist-antagonist-agonist) of ballistic type. Our findings suggest that the myoclonus-dystonia disorder is present in Brazilian patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100720070053
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  • 28
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    Electronic Resource
    Central nervous system hemangioblastomas, endolymphatic sac tumors, and von Hippel-Lindau disease (2000)
    Springer
    Neurosurgical review 23 (2000), S. 1-22 
    Details
    ISSN: 1437-2320
    Keywords: Key words Von Hippel-Lindau disease ; Hemangioblastoma ; Endolymphatic sac tumor ; Angiogenesis ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Von Hippel-Lindau disease (VHL) is a hereditary cancer syndrome caused by germline mutations of the VHL tumor suppressor gene. Major progress has been made in the last decade in both clinical and fundamental aspects of VHL. The VHL gene product, pVHL, has major and multiple functions: pVHL regulates not only first angiogenesis but also extracellular matrix formation and the cell cycle. A molecular diagnosis of VHL is now available, leading to a transformation in clinical management of patients and their families. Diagnosis of VHL has to be suspected in patients with a VHL-related tumor without familial history and especially in case of hemangioblastoma or endolymphatic sac tumors. Such patients should be systematically investigated for clinical and molecular evidence of VHL disease. Treatment of symptomatic hemangioblastomas remains mainly neurosurgical, often in emergency, but stereotactic radiosurgery is emerging as an alternative therapeutic procedure. In the future, antiangiogenic drugs could represent a potential medical treatment of CNS hemangioblastomas in view of their highly vascular structure. Lastly, visceral manifestations of VHL disease are also of critical importance and require early detection for effective treatment.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s101430050024
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  • 29
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    Electronic Resource
    Perspectives in pediatric neurosurgery (2000)
    Springer
    Child's nervous system 16 (2000), S. 809-820 
    Details
    ISSN: 1433-0350
    Keywords: Keywords Pediatric neurosurgery ; Molecular biology ; Genetics ; Novel therapeutics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  The new millennium beckons for novel advances in the diagnosis and treatment of pediatric neurosurgical conditions. Almost every aspect of pediatric neurosurgery has changed over the last decade. Undoubtedly with the application of knowledge in molecular biology to human disease many aspects of neurosurgery, especially neuro-oncology and the field of neuro-developmental anomalies, will change appreciably over the next decade. Overall, the trend in surgery in general and neurosurgery in particular is toward less invasive procedures and possibly non-surgical interventions. This review will briefly cover many of the important areas of pediatric neurosurgery. We will describe the state-of-the-art of our subspecialty and discuss possible future directions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003810000345
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  • 30
    Electronic Resource
    Electronic Resource
    Mitochondrial DNA mutation at np 3243 in a family with maternally inherited diabetes mellitus (1999)
    Springer
    Acta diabetologica 36 (1999), S. 163-167 
    Details
    ISSN: 1432-5233
    Keywords: Key words Mitochondrial DNA ; Genetics ; Maternally inherited diabetes mellitus ; Deafness ; np 3243 mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Mitochondrial DNA (mtDNA) gene defects may play a role in the development of maternally inherited diabetes mellitus and deafness (MIDD). A family from Southern Italy who showed maternal transmission of type 2 diabetes mellitus with three individuals affected is described. A 10.4 kb deletion and mutations at nucleotide positions (np) 3243, 7445 and 11778 in the mtDNA of six relatives were sought. The mitochondrial np 3243 mutation of the tRNA Leu (UUR) gene was identified in a boy affected by optic atrophy and mental retardation, as well as in his diabetic mother. No other mutations or deletions were found. Our study points out the variable phenotypic expression of the np 3243 mtDNA mutation. This may suggest the presence of other mitochondrial or nuclear mutations required to modulate the phenotype. A clinical and metabolic follow-up of all family members was necessary to understand the role of the np 3243 mutation, especially in one child affected by optic atrophy and mental retardation. Further studies will be aimed at investigating the prevalence of mutations and deletions of mtDNA in type 2 diabetes mellitus.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s005920050161
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  • 31
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    Electronic Resource
    AC/GT and AG/CT microsatellite repeats in peach [Prunus persica (L) Batsch]: isolation, characterisation and cross-species amplification in Prunus (1999)
    Springer
    Theoretical and applied genetics 99 (1999), S. 65-72 
    Details
    ISSN: 1432-2242
    Keywords: Key words Simple sequence repeat (SSR) ; Microsatellites ; Molecular markers ; Genetics ; Fingerprinting
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  We report the sequences of 17 primer pairs of microsatellite loci, which we have cloned and sequenced from two genomic libraries of peach [Prunus persica (L) Batsch] ‘Redhaven’, enriched for AC/GT and AG/CT repeats respectively. For ten of these microsatellite loci we were able to demonstrate Mendelian inheritance in a segregating back-cross population; the remainder did not segregate. The polymorphism of the microsatellites was evaluated in a panel of ten peach genotypes, including true-to-type peaches, nectarines and one canning-peach. Fifteen microsatellites (88%) were polymorphic showing 2–4 alleles each. The mean heterozygosity, averaged over all loci, was 0.32 and significantly higher than that reported in the literature for isozymes and molecular markers, such as RFLPs and RAPDs. We have also assayed the cross-species transportability and found that ten microsatellite (59%) gave apparently correct amplification in all Prunus species surveyed, namely P. domestica (European plum), P. salicina (Japanese plum), P. armeniaca (apricot), P. dulcis (almond), P. persica var. vulgaris (peach), P. persica var. laevis (nectarine), P. avium (sweet cherry) and P. cerasus (sour cherry), with three of them also being amplified in Malus (apple). The remaining microsatellites gave less-extensive amplification. Because of their appreciable polymorphism and wide cross-species transportability, most of these new markers can be integrated into the linkage maps which are currently being constructed in peach, as well as in other stone fruit crops, such as almond, apricot, cherry and plum.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001220051209
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  • 32
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    Electronic Resource
    Pathologie der Rhabdo- myosarkome des Kindes- und Adoleszentenalters Ein Bericht des Kindertumorregisters bei der Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH) (1999)
    Springer
    Der Pathologe 20 (1999), S. 87-97 
    Details
    ISSN: 1432-1963
    Keywords: Schlüsselwörter Rhadomyosarkom ; Klassifizierung ; Immunhistochemie ; Genetik ; Prognose ; Key words Rhabdomyosarcoma ; Classification ; Immunohistochemistry ; Genetics ; Prognosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Rhabdomyosarcoma (RMS) is the most important and a very heterogeneous group of malignant soft tissue tumors of childhood and adolescence.The two major subtypes (embryonal and alveolar) share a common myogenic differentiation, but seem to be histogenetically not related. The so-called ’International Classification of Rhabdomyosarcoma’ includes, besides the two major subtypes, the botryoid and leiomyomatous subtypes of embryonal RMS which are associated with a better prognosis and are treated less aggressively according to current protocols. In addition, the solid variant of alveolar RMS is included in the alveolar group of RMS. The identification of the various subtypes is necessary and important because the treatment with the current protocols is also related to histology. Using conventional stains and immunohistochemistry, these subtypes are distinguishable. Genetic analysis can be helpful in the demonstration of t(2;13) or t(1;13) translocations in alveolar RMS. The identification of alveolar RMS with t(1;13) translocation might become important in the future, because this type of translocation seems to be related to a better prognosis as compared to tumors with a t(2;13) translocation.
    Notes: Zusammenfassung Rhabdomyosarkome stellen eine heterogene Gruppe von ganz verschiedenartigen, histogenetisch wohl nicht zusammengehörenden Tumoren dar. Nach der heute verwendeten „Internationalen Klassifikation” der Rhabdomyosarkome werden neben der Unterteilung in embryonalen und alveoläre Rhabdomyossarkome auch Subtypen des embryonalen RMS identifiziert (botryoider und leiomyomatöser Subtyp), die durch eine günstigere Prognose und durch die Notwendigkeit einer weniger aggressive Therapie gekennzeichnet sind. Durch Einsatz von verschiedenen histologischen und immunhistochemischen Färbungen ist die Identifizierung der verschiedenen Typen der RMS heute möglich und auch zwingend notwendig, da die einzelnen Entitäten nach ganz unterschiedlichen Therapieprotokollen behandelt werden. Der Nachweis typischer molekulargenetischer Veränderungen kann in der Unterscheidung insbesondere von embryonalen und alveolären RMS hilfreich sein. In der Regel ist die Abgrenzung zwischen diesen beiden Entitäten auch an konventionell gefärbten Schnittpräparaten möglich. Die Identifizierung von alveolären RMS mit einer t(1;13)-Translokation könnte in Zukunft eine große Bedeutung haben, da diese genetische Veränderung möglicherweise mit einer günstigeren Prognose assoziert sein könnte als die t(2;13)-Translokation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002920050326
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    Electronic Resource
    Etiology of the inflammatory bowel diseases (1999)
    Springer
    International journal of colorectal disease 14 (1999), S. 2-9 
    Details
    ISSN: 1432-1262
    Keywords: Key words Inflammatory bowel disease ; Crohn's disease ; Ulcerative colitis ; Epidemiology ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Inflammatory bowel diseases (IBD) are complex disorders. While the exact etiology of these diseases remains unknown, recent progress in the epidemiology and genetics of IBD has clearly demonstrated both environmental and genetic factors to play a role in the development of the disease, and it is expected that some risk factors are common for both Crohn's disease (CD) and ulcerative colitis (UC). The environmental factor(s) are associated with the Western way of life in the second half of the twentieth century. Cigarette smoking is presently the best known environmental factor. However, the effect of tobacco is opposite in CD and UC. A familial history of IBD is the most important risk factor for developing the disease, suggesting a genetic predisposition to IBD. This hypothesis has recently been confirmed by the localization of at least two susceptibility loci on chromosomes 12 and 16. These genes seem to play a role in both CD and UC. They must now to be identified.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003840050175
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  • 34
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    Genetik schizophrener Störungen Neuere Konzepte und Befunde (1999)
    Springer
    Der Nervenarzt 70 (1999), S. 955-969 
    Details
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Schizophrenie ; Genetik ; Schizophrenes Spektrum ; Kopplungsuntersuchungen ; Assoziationsuntersuchungen ; Key words Schizophrenia ; Genetics ; Schizophrenia spectrum ; Linkage studies ; Association studies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Schizophrenia is a genetic complex disease as it does not follow monogenic transmission while non-familial environmental factors have a strong additional impact. A heterogenous, continuous phenotype is transmitted in families which can now be more precisely characterized. Genes coding for proteins with presumed pathophysiological relevance are apparently not playing a major causal role. However, in the last three years several (currently seven) candidate regions have been identified in a replicable manner by linkage studies. These regions are likely to host susceptibility genes for schizophrenia, but none of them has been identified up to now. Given these findings, polygenic transmission has now become very likely. The candidate regions are currently being narrowed down by various promising techniques.
    Notes: Zusammenfassung Die Schizophrenie gehört zu den genetisch komplexen Erkrankungen, die keinem monogenen Erbgang folgen und bei denen auch nichtfamiliäre Umgebungsfaktoren eine wichtige Rolle spielen. Dabei wird intrafamiliär ein heterogener, quantitativ variierender Phänotyp übertragen, der zunehmend genauer charakterisiert werden kann. Keines der bekannten Gene mit vermuteter pathophysiologischer Relevanz spielt nach den bisherigen Erkenntnissen eine substantielle Rolle. In den vergangenen drei Jahren ist es aber erstmals durch Kopplungsuntersuchungen gelungen, mehrere replizierbare Kandidatenregionen (derzeit sieben) auf dem Genom zu identifizieren, in denen vermutlich Suszeptibilitätsgene für Schizophrenie liegen. Keines dieser Gene wurde jedoch bislang identifiziert. Mit diesen Befunden ist eine polygene Übertragung der Schizophrenie sehr wahrscheinlich geworden. Verschiedene Techniken zur Eingrenzung der Kandidatenregionen werden derzeit erfolgreich angewandt.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001150050524
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  • 35
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    Electronic Resource
    A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy (1999)
    Springer
    Acta neuropathologica 98 (1999), S. 62-77 
    Details
    ISSN: 1432-0533
    Keywords: Key words Frontotemporal dementia ; Genetics ; Progressive supranuclear palsy ; Tauopathy ; Exon ; amplifcation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Recently intronic and exonic mutations in the Tau gene have been found to be associated with familial neurodegenerative syndromes characterized not only by a predominantly frontotemporal dementia but also by the presence of neurological signs consistent with the dysfunction of multiple subcortical neuronal circuitries. Among families, the symptomatology appears to vary in quality and severity in relation to the specific Tau gene mutation and often may include parkinsonism, supranuclear palsies, and/or myoclonus, in addition to dementia. We carried out molecular genetic and neuropathological studies on two patients from a French family presenting, early in their fifth decade, a cognitive impairment and supranuclear palsy followed by an akinetic rigid syndrome and dementia. The proband died severely demented 7 years after the onset of the symptoms; currently, his brother is still alive although his disease is progressing. In both patients, we found a Tau gene mutation in exon 10 at codon 279, resulting in an asparagine to lysine substitution (N279K). Neuropathologically, widespread neuronal and glial tau accumulation in the cortex, basal ganglia, brain stem nuclei as well as in the white matter were the hallmark of the disease. These deposits were shown by immunohistochemistry and immunoelectron microscopy, using a battery of antibodies to phosphorylation-dependent and phosphorylation-independent epitopes present in multiple tau regions. In the neocortex, tau-immunopositive glial cells were more numerous than immunopositive neurons; the deeper cortical layers as well as the white matter adjacent to the cortex contained the largest amount of immunolabeled glial cells. In contrast, some brain stem nuclei contained more neurons with tau deposits than immunolabeled glial cells. The correlation of clinical, neuropathological and molecular genetic findings emphasize the phenotypic heterogeneitiy of diseases caused by Tau gene mutations. Furthermore, to test the effect of the N279K mutation and compare it with the effect of the P301L exon 10 mutation on alternative splicing of Tau exon 10, we used an exon amplification assay. Our results suggest that the N279K mutation affects splicing similar to the intronic mutations, allowing exon 10 to be incorporated more frequently in the Tau transcript.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010051052
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  • 36
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    Electronic Resource
    Analysis of potential phosphorylation sites in human T cell leukemia virus type 1 Tax (1999)
    Springer
    Journal of biomedical science 6 (1999), S. 206-212 
    Details
    ISSN: 1423-0127
    Keywords: Tax ; HTLV-1 ; Trans-activation ; Phosphorylation ; Mutagenesis ; Transcription ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The human T cell leukemia virus type 1 (HTLV-1) Tax is a phosphoprotein, however, the contribution of phosphorylation to Tax activity is unknown. Previous studies have shown that phosphorylation of Tax occurs on serine residue(s), within one tryptic fragment, in response to 4β-phorbol-12β-myristate-13α-acetate, in both mouse and human cells. Studies were conducted in multiple cell lines to identify the specific phosphorylated serines as a prelude to functional analysis. The phosphorylation pattern of Tax was found to be different in 293T and COS-7 cells in comparison with MT-4 and Px-1 cells. However, one tryptic fragment remained consistent in comigration analyses among all cell lines. Using selected Tax serine mutants a tryptic fragment containing a serine at residue 113 believed to be the site of phosphorylation of Tax did not comigrate with the common phosphorylated tryptic fragment. Analysis of selected Tax mutants for ability totrans-activate the cytomegalovirus promoter demonstrated mutation of serine 77 to alanine reducedtrans-activation by 90% compared to wild-type Tax. However, examination of the phosphorylation pattern of the serine 77 mutant demonstrated that it is not the site of phosphorylation. These studies demonstrate the importance of using relevant cell lines to characterize the role of phosphorylation in protein function.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02255904
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  • 37
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    Electronic Resource
    Controlling septation in fission yeast: finding the middle, and timing it right (1999)
    Springer
    Current genetics 35 (1999), S. 571-584 
    Details
    ISSN: 1432-0983
    Keywords: Key words Cytokinesis ; Kinase ; Mitosis ; Schizosaccharomyces pombe ; Cell division ; Phosphatase ; Mutant ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The fission yeast Schizosaccharomyces pombe provides a simple eukaryotic model for the study of cytokinesis. S. pombe cells are rod-shaped, grow mainly by elongation at their tips, and divide by binary fission after forming a centrally placed division septum. Analysis of mutants has begun to shed light upon how septum formation and cytokinesis are regulated both spatially and temporally. Some of the proteins involved in these events have been functionally conserved throughout eukaryotic evolution, suggesting that aspects of this control will be common to all eukaryotic cells.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002940050455
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  • 38
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    Electronic Resource
    Clinical relevance of monosomy 22q11.2 in children with pulmonary atresia and ventricular septal defect (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 302-307 
    Details
    ISSN: 1432-1076
    Keywords: Key words Congenital heart disease ; Pulmonary atresia and ventricular septal defect ; Genetics ; Monosomy 22q11.2
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The purpose of our study was to describe the prevalence and the clinical spectrum of monosomy 22q11.2 in a population of patients with pulmonary atresia and ventricular septal defect. We examined all 44 patients with this conotruncal cardiac malformation who presented to our institution from January 1994 until December 1997. The type of collateral lung perfusion was recorded including anomalies of the pulmonary arteries as well as facial and immunological abnormalities. Molecular-cytogenetic testing for a 22q11.2 microdeletion was performed using the probes D22S75 and cHKAD26. Statistical differences were evaluated with the Fisher's Exact Test. Monosomy 22q11.2 was present in ten children (23%) with major aortopulmonary collateral arteries (group 1). The remaining 13 children (29%) with major aortopulmonary collateral arteries (group 2) and all 21 children (48%) with ductus arteriosus (group 3) were negative for this microdeletion. All children in group 1 had facial anomalies, six had mild immunological abnormalities including decreased CD 4+ or CD 8+ cells. Anomalies of the pulmonary vascular bed were significantly more frequent in children of group 1 (9/10) than in children of group 2 (4/13) or group 3 (0/21). Due to these pulmonary vascular anomalies, corrective surgery had been accomplished in fewer children with monosomy 22q11.2 (none in group 1) as compared to 7/13 children in group 2 and 14/21 children in group 3. Conclusion In children with pulmonary atresia and ventricular septal defect, monosomy 22q11.2 is preferentially associated with major aortopulmonary collateral arteries. Due to the higher incidence of pulmonary arterial abnormalities, successful surgical repair will require a different therapeutic approach in most patients with this microdeletion.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051077
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  • 39
    Electronic Resource
    Electronic Resource
    Linkage analysis of candidate myelin genes in familial multiple sclerosis (1999)
    Springer
    Neurogenetics 2 (1999), S. 155-162 
    Details
    ISSN: 1364-6753
    Keywords: Key words Multiple sclerosis ; Genetics ; Myelin basic protein ; Myelin oligodendrocyte glycoprotein ; Proteolipid protein
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: ABSTRACT Multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system. A complex genetic etiology is thought to underlie susceptibility to this disease. The present study was designed to analyze whether differences in genes that encode myelin proteins influence susceptibility to MS. We performed linkage analysis of MS to markers in chromosomal regions that include the genes encoding myelin basic protein (MBP), proteolipid protein (PLP), myelin-associated glycoprotein (MAG), oligodendrocyte myelin glycoprotein (OMGP), and myelin oligodendrocyte glycoprotein (MOG) in a well-characterized population of 65 multiplex MS families consisting of 399 total individuals, 169 affected with MS and 102 affected sibpairs. Physical mapping data permitted placement of MAG and PLP genes on the Genethon genetic map; all other genes were mapped on the Genethon genetic map by linkage analysis. For each gene, at least one marker within the gene and/or two tightly linked flanking markers were analyzed. Marker data analysis employed a combination of genetic trait model-dependent (parametric) and model-independent linkage methods. Results indicate that MAG, MBP, OMGP, and PLP genes do not have a significant genetic effect on susceptibility to MS in this population. As MOG resides within the MHC, a potential role of the MOG gene could not be excluded.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100480050076
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  • 40
    Electronic Resource
    Electronic Resource
    Management of mantle cell lymphoma (1999)
    Springer
    Annals of hematology 78 (1999), S. 485-494 
    Details
    ISSN: 1432-0584
    Keywords: Key words Mantle cell lymphoma ; Classification ; Pathology ; Prognosis ; Immunology ; Genetics ; Antineoplastic agents ; Combined ; Therapeutic use ; Radiotherapy ; Hematopoietic stem cell transplantation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002770050545
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  • 41
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    Electronic Resource
    Why is acute leukemia more common in males? A possible sex-determined risk linked to the ABO blood group genes (1999)
    Springer
    Annals of hematology 78 (1999), S. 233-236 
    Details
    ISSN: 1432-0584
    Keywords: Key words Acute leukemia ; Genetics ; Sex ; ABO Blood group
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Acute leukemia is more common in males at almost every age, and this fact remains unexplained. A study was carried out in northeast peninsular Malaysia, where the population is predominantly Malay, to examine whether there was a difference in ABO blood group distribution between males and females with acute leukemia (AL). The ABO blood groups of 109 male and 79 female patients with AL (98 ALL, 90 AML) were compared with those of 1019 controls. In the control population, 39.7% were group O. Among males with AL, 39.4% were group O, whereas among females with AL, the proportion was 24.1% (p=0.03). The same trend to a lower proportion of group O among females was seen if the group was divided into adult/pediatric or lymphoblastic/myeloblastic groups, though these differences were not statistically significant. If these findings can be confirmed, they suggest the presence of a "sex-responsive" gene near to the ABO gene locus on chromosome 9, which relatively protects group O women against AL, at least in our population. The existence of such a gene might also partly explain why acute leukemia, and possibly other childhood cancers, are more common in males.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002770050507
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  • 42
    Electronic Resource
    Electronic Resource
    The neurofibromatoses. An overview (1999)
    Springer
    Italian journal of neurological sciences 20 (1999), S. 89-108 
    Details
    ISSN: 1126-5442
    Keywords: Key words Neurofibromatosis ; Nf1 ; Nf2 ; Mosaic/segmental neurofibromatosis ; Variants ; Classification ; Neurological manifestations ; Genetics ; Childhood ; Adulthood
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The last two decades have seen clinical and molecular delineation of the different forms of neurofibromatosis. Differentiation of these forms is not just an academic exercise: their natural history, management and genetic counselling are quite different. Of the numerical classifications of neurofibromatosis proposed in the past, only neurofibromatosis type 1 (Nf1) and neurofibromatosis type 2 (Nf2) are now well delineated clinically and have been shown to be distinct at the molecular level. For both forms of neurofibromatosis, patients with clinical generalised disease have been demonstrated to be mosaic at the molecular level, and features of segmental or mosaic Nf1 and Nf2 have been delineated. Other reported forms of neurofibromatosis are rarer; they include Watson syndrome, hereditary spinal neurofibromatosis, familial intestinal neurofibromatosis, autosomal dominant café-au-lait spots alone, autosomal dominant neurofibromas alone, and schwannomatosis, the latter believed to be a variant of Nf2. Further delineation is neeeded for individuals having overlapping features of Noonan's syndrome and neurofibromatosis (the so-called Noonan/neurofibromatosis syndrome) and the syndrome of “multiple naevi, multiple schwannomas and multiple vaginal leiomyomas”. In this article we review the forms of neurofibromatosis which we believe are true clinical entities. Particular attention is given to the neurological manifestations of neurofibromatosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100720050017
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  • 43
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    Electronic Resource
    Insulin resistance and impaired insulin secretion due to phosphofructo-1-kinase-deficiency in humans (1999)
    Springer
    Journal of molecular medicine 77 (1999), S. 96-103 
    Details
    ISSN: 1432-1440
    Keywords: Key words Diabetes ; Genetics ; Phosphofructokinase ; Glycogenosis ; NIDDM ; PFK
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The etiology of non-insulin-dependent diabetes mellitus (NIDDM) is usually explained as a combination of peripheral insulin resistance and impaired beta-cell function. Phosphofructo-1-kinase (PFK1) is a rate limiting enzyme in glycolysis, and its muscle subtype (PFK1-M) deficiency leads to an autosomal recessively inherited disorder known as glycogenosis type VII or Tarui’s disease. It was evaluated whether PFK1-M deficiency leads to NIDDM in humans. A core family of four was evaluated for PFK1-M deficiency by DNA- and enzyme-activity-analyses. All members underwent oral and intravenous glucose tolerance test (oGTT/ivgtt), as well as an insulin sensitivity test (IST) using octreotide. Results: Father (46 years, BMI 22.4 kg/m2) and older son (19 years, BMI 17.8 kg/m5) showed homozygous PFK1-M deficiency, while mother (47 years, BMI 28.4 kg/m5) and younger son (13 years, BMI 16.5 kg/m5) were shown to be heterozygously PFK1-M-deficient on enzyme activity levels. DNA analysis revealed an exon 5-missense-mutation at one allele of all four members, and an exon 22-frameshift-mutation at the other allele of the two homozygously affected individuals. By oGTT the father showed impaired glucose tolerance, and the mother clinical diabetes. By ivGTT both parents and the older son had a decreased first phase insulin secretion, and a diminished glucose disappearance rate. The IST showed marked insulin resistance in both parents and the older son, and moderate resistance in the younger son, previously not described. Conclusion: PFK1-M-deficiency leads to a metabolic state typical for early NIDDM in homozygously affected humans, especially concerning insulin resistance and loss of first phase beta-cell insulin secretion, and may contribute to the manifestation of NIDDM in a subgroup of patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001090050311
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  • 44
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    Electronic Resource
    Polymorphisms in the glutamate transporter gene EAAT2 in European ALS patients (1999)
    Springer
    Journal of neurology 246 (1999), S. 1140-1144 
    Details
    ISSN: 1432-1459
    Keywords: Key words Amyotrophic lateral sclerosis ; Genetics ; Glutamate transporter gene
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Amyotrophic lateral sclerosis (ALS) is a progressive neurological disorder characterised by degeneration of upper and lower motor neurons. Whilst the primary pathogenic trigger is unknown in most cases, evidence is mounting to implicate a role for glutamate-mediated neurotoxicity in the disorder. Recent studies have shown reduced levels of the mainly astroglial glutamate transporter EAAT2 in ALS motor cortex and spinal cord and multiple abnormal EAAT2 mRNA species in ALS brain tissue. One cause of the low EAAT2 levels may be that point mutations in the EAAT2 gene, EAAT2, result in an abnormal unstable protein. To test this hypothesis we analysed EAAT2 in 128 sporadic and 23 familial European ALS cases. No variants within the coding sequence of EAAT2 to affect the protein sequence nor in the consensus splice sites of the flanking intronic sequences were found in any cases, similar to findings in other reports. Frequent polymorphisms within the flanking intronic sequences of both exons 2 and 4 were seen but at similar frequencies in controls. Mechanisms other than mutations within the coding region of EAAT2 must therefore be responsible for the low levels of EAAT2 seen in most cases of ALS.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150050532
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  • 45
    Electronic Resource
    Electronic Resource
    Early diagnosis and the clinical genetics of Alzheimer’s disease (1999)
    Springer
    Journal of neurology 246 (1999), S. 69-72 
    Details
    ISSN: 1432-1459
    Keywords: Key words Alzheimer’s disease ; Genetics ; Genetic counseling ; Predictive testing ; Diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Alzheimer’s disease (AD) has a significant genetic background manifested as autosomal dominant inheritance in some early-onset families and as familial risk in late-onset cases. Three genes responsible for early-onset autosomal dominant AD have been identified, and one gene, apolipoprotein E, has been confirmed as a susceptibility gene for late-onset forms of the disorder. These findings raise the possibility of genetic testing, either for early diagnosis or prediction. For early-onset autosomal dominant AD genetic testing will have a limited but useful role in confirming diagnosis in established cases and in predictive counselling for relatives; a situation analogous to that for Huntington’s disease. For late-onset AD significant problems remain to be overcome before the advances in molecular genetics have a direct clinical application
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150050310
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  • 46
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    Electronic Resource
    Self-incompatibility in passion fruit: evidence of two locus genetic control (1999)
    Springer
    Theoretical and applied genetics 98 (1999), S. 564-568 
    Details
    ISSN: 1432-2242
    Keywords: Key words Passiflora ; Self-incompatibility ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  The self-incompatibility in yellow passion fruit was previously described as homomorphic sporophytic with monofactorial inheritance. Five progenies were obtained by bud-selfing. The plants of these progenies were selfed, reciprocally crossed within each progeny and crossed with known incompatible phenotypes to identify their phenotypic group. Fruit set was evaluated at the 7th day after pollination. Two progenies consisted of two self-incompatible groups, the other three formed three suck groups. The groups were identified as S1, S2, S3, S4, S5 and S6. The results provide evidence that the self-incompatibility of passion fruit is controlled by two loci, the S-gene and another, whose expression needs to be investigated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001220051105
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  • 47
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    Electronic Resource
    A stylar ribonuclease assay to detect self-compatible seedlings in almond progenies (1999)
    Springer
    Theoretical and applied genetics 99 (1999), S. 800-810 
    Details
    ISSN: 1432-2242
    Keywords: Key words Almond ; Compatibility ; Genetics ; Prunus dulcis ; Ribonucleases
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  Six almond progenies, each the product of a cross between a self-compatible and a self-incompatible parent, were analysed for stylar ribonucleases. Proteins were extracted and separated using non-equilibrium pH gradient electrofocusing (NEPHGE), and the gels were stained for ribonuclease activity. Most seedlings showed either two principal bands, interpreted as corresponding to two incompatibility alleles, or a single band. The seedlings were also bagged in the field at flowering time to determine fruit set after selfing, and some were also examined for the growth of pollen-tubes in selfed styles using UV fluorescence microscopy. With very few exceptions, those seedlings showing single-banded zymograms were found to be self-compatible according to field and microscope studies, and those with two bands were found to be self-incompatible. We conclude that the allele for self-compatibility in almond does not code for ribonuclease activity and that the ribonuclease isoenzyme assay is a convenient technique for predicting self-compatibility in segregating progenies. A novel band in two derivatives of ’Ferrastar’ was ascribed to a new incompatibility allele, S 10 .
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001220051299
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  • 48
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    Electronic Resource
    Craniosynostosis: from a clinical description to an understanding of bone formation of the skull (1999)
    Springer
    Child's nervous system 15 (1999), S. 676-680 
    Details
    ISSN: 1433-0350
    Keywords: Key words Craniosynostosis ; Genetics ; FGFR ; Msx2 ; Development ; Skull
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  The genetic studies of syndromic craniosynostoses lead to the characterisation of genes that regulate the correct development of the bones of the skull. From these studies, it appears that FGF/FGFR signalling has a crucial role in this problem. Numerous mutations affecting the genes coding for FGFR1, 2 or 3 are responsible for these syndromes. It is interesting to note that some identical mutations produced various different phenotypes, suggesting that other genes modulate the phenotypic expressivity. The other involved genes in these syndromes code for such proteins as Msx2 or Twist that interact in the cellular pathways responsible for FGF action. From these genetic studies, it is now important to establish the role of these proteins during the development of the skull. Msx2 plays a repressive role in osteogenesis, whereas FGFRs act as promoting proteins. In the near future, it will be very important to improve our understanding of these phenomena in order to test specific treatments to prevent the development of such syndromes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003810050457
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  • 49
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    Electronic Resource
    Division of labor in a dynamic environment: response by honeybees (Apis mellifera) to graded changes in colony pollen stores (1999)
    Springer
    Behavioral ecology and sociobiology 46 (1999), S. 171-179 
    Details
    ISSN: 1432-0762
    Keywords: Key words Honeybee ; Apis mellifera ; Division of labor ; Genetics ; Pollen foraging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  A fundamental requirement of task regulation in social groups is that it must allow colony flexibility. We tested assumptions of three task regulation models for how honeybee colonies respond to graded changes in need for a specific task, pollen foraging. We gradually changed colony pollen stores and measured behavioral and genotypic changes in the foraging population. Colonies did not respond in a graded manner, but in six of seven cases showed a stepwise change in foraging activity as pollen storage levels moved beyond a set point. Changes in colony performance resulted from changes in recruitment of new foragers to pollen collection, rather than from changes in individual foraging effort. Where we were able to track genotypic variation, increases in pollen foraging were accompanied by a corresponding increase in the genotypic diversity of pollen foragers. Our data support previous findings that genotypic variation plays an important role in task regulation. However, the stepwise change in colony behavior suggests that colony foraging flexibility is best explained by an integrated model incorporating genotypic variation in task choice, but in which colony response is amplified by social interactions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002650050607
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  • 50
    Electronic Resource
    Electronic Resource
    Erbliche Ursachen und Risikofaktoren der Alzheimer-Krankheit (1999)
    Springer
    Der Nervenarzt 70 (1999), S. 195-205 
    Details
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Alzheimer-Krankheit ; Genetik ; Risikofaktoren ; Genetische Beratung ; Key words Alzheimer’s disease ; Genetics ; Risk factors ; Genetic counseling
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary A multifactorial etiology underlies the majority of cases of Alzheimer’s disease (AD). Both ill-defined environmental and genetic factors contribute to the development of the disease. Allele ɛ4 of ApoE is a genetic risk factor. Its presence increases the risk of developing AD. However, presence of e4 is neither necessary nor sufficient for the disease to arise. Apart from the common multifactorial forms of the disease, there are rare variants which are inherited as Mendelian traits. To date three genes are known that can be mutated in these rare forms of AD. Of these, mutations in the gene presenilin 1 on chromosome 14 are most frequent. In addition, mutations in the gene presenilin 2 on chromosome 1 and in the amyloid precursor protein gene (APP on chromosome 21) occur in autosomal dominant AD. This article reviews our present knowledge of the genetics of AD and discusses its relevance for patients with AD and their relatives.
    Notes: Zusammenfassung Der Großteil der Fälle von Alzheimer-Krankheit (AK) hat eine multifaktorielle Ätiologie. Das bedeutet, bisher nicht genauer bekannte Umwelteinflüsse und genetische Faktoren spielen bei der Entwicklung der Krankheit eine wesentliche Rolle. Von seiten der Genetik unterscheidet man bei der AK gegenwärtig genetische Risikofaktroren und Mutationen. Der einzige bisher gesicherte genetische Risikofaktor ist das Allel ɛ4 des Gens für Apolipoprotein E auf Chromosom 19. Dieses Allel erhöht die Wahrscheinlichkeit, an der AK zu erkranken, ist jedoch weder eine notwendige noch eine hinreichende Bedingung. Neben den häufigen Formen mit multifaktorieller Ätiologie kommen seltene Varianten der Krankheit vor, die nach Mendelschen Regeln vererbt werden. Bisher sind 3 Gene bekannt, die bei diesen seltenen, in der Regel früh auftretenden und autosomal dominant vererbten Formen mutiert sein können. Am häufigsten findet sich bei den autosomal-dominanten Fällen eine Mutation im Gen präsenilin 1 auf Chromosom 14, seltener liegen Mutationen im Gen präsenilin 2 auf Chromosom 1 und im Gen des Amyloid- Vorläuferproteins auf Chromosom 21 vor. In diesem Beitrag geben wir eine Übersicht über gegenwärtige Befunde zur Genetik der AK und diskutieren die Bedeutung dieses Wissens für Patienten und deren Verwandte.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001150050423
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  • 51
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    Crosses between diabetic BB/OK and wild rats confirm that a third gene is essential for diabetes development (1998)
    Springer
    Acta diabetologica 35 (1998), S. 109-111 
    Details
    ISSN: 1432-5233
    Keywords: Key words BB rat ; Diabetes ; Genetics ; Crossing study
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Several crossing studies with diabetic BB rats have shown that in addition to the lymphopenia (Iddm1) and the MHC class II genes of the RT1u haplotype (Iddm2) there are further non-MHC genes essential for diabetes development. Because diabetes-resistant inbred rat strains may be homozygous for one of the diabetogenic non-MHC genes, masking the expression of diabetogenic genes and leading to an underestimation of the number of diabetogenic genes, we crossed wild and diabetic BB/OK rats. The F1 hybrids were backcrossed onto diabetic female (BC1W-F, n=97) and male BB/OK rats (BC1W-M, n=98) transferred to a specified-pathogen-free environment and studied for the frequency and age at onset of diabetes up to an age of 30 weeks. Comparing the results of these BC1 W hybrids with similarly derived hybrids using diabetes-resistant DA rats (BC1DA-F, n=113; BC1DA-M, n=216), the diabetes frequency in total was comparable indicating the action of three recessive genes. The percentage of diabetics in Iddm1 and Iddm2 homozygotes confirmed the existence of the third gene, Iddm3, but there were some sex differences; significantly more male than female BC1W-F and significantly more BC1DA-M than BC1DA-F males were diabetic. Regarding the age at onset, the BC1W-F hybrids manifested not only significantly earlier, but also more uniformly than BC1DA-F and BC1-M hybrids.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s005920050114
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  • 52
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    Electronic Resource
    Hepatocyte nuclear factor-1a gene and non-insulin-dependent diabetes mellitus in the Japanese population (1998)
    Springer
    Acta diabetologica 35 (1998), S. 150-153 
    Details
    ISSN: 1432-5233
    Keywords: Key words Non-insulin-dependent diabetes mellitus ; MODY ; Hepatocyte nuclear factor-1α ; Genetics ; Microsatellite polymorphism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Recently, hepatocyte nuclear factor-1α (HNF-1α, which is encoded by the TCF1 gene) mutations were reported in a subset of patients with maturity onset diabetes of the young (MODY3). We studied the contribution of TCF1 to genetic susceptibility to common non-insulin-dependent diabetes mellitus (type 2) in Japanese subjects by investigating allelic association with type 2 diabetes use of three markers. We also studied the frequency of the G191D mutation, the only mutation of TCF1 reported so far in late-onset type 2 diabetes. A total of 356 subjects were studied. There were no significant differences in allele frequency of the three markers between patients with type 2 diabetes and control subjects. A G191D mutation was not found in the subjects studied, giving a frequency of less than 0.4% in common type 2 diabetes. The lack of association of type 2 diabetes with three markers in and near TCF1 suggests that mutations in TCF1 derived from a limited number of founders are not a major cause of common type 2 diabetes even in the genetically homogeneous Japanese population. The data also indicate that the G191D mutation in TCF1 plays little, if any, role in susceptibility to common type 2 diabetes in the Japanese.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s005920050120
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  • 53
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    Electronic Resource
    The effect of genotype on response thresholds to sucrose and foraging behavior of honey bees (Apis mellifera L.) (1998)
    Springer
    Journal of comparative physiology 182 (1998), S. 489-500 
    Details
    ISSN: 1432-1351
    Keywords: Key words Honey bee ; Behavior ; Genetics ; Neurobiology ; Foraging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Honey bee foragers were tested for their proboscis extension response (PER) to water and varying solutions of sucrose. Returning pollen and nectar foragers were collected at the entrance of a colony and were assayed in the laboratory. Pollen foragers had a significantly higher probability of responding to water and to lower concentrations of sucrose. Bees derived from artificially selected high- and low-pollen-hoarding strains were also tested using the proboscis extension assay. Returning foragers were captured and tested for PERs to 30% sucrose. Results demonstrated a genotypic effect on PERs of returning foragers. The PERs of departing high- and low-strain foragers were consistent with those of returning foragers. The PERs were related to nectar and water reward perception of foragers. High strain bees were more likely to return with loads of water and lower concentrations of sucrose than foragers from the low pollen strain. Low-strain bees were more likely to return empty. We identified a previously mapped genomic region that contains a variable quantitative trait locus that appears to influence sucrose response thresholds. These studies demonstrate a gene-brain-behavior pathway that can be altered as a consequence of colony-level selection for quantities of stored food.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003590050196
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    Genetics of psoriasis (1998)
    Springer
    Archives of dermatological research 290 (1998), S. 463-476 
    Details
    ISSN: 1432-069X
    Keywords: Key words Psoriasis ; Genetics ; HLA ; Linkage ; Epidemiology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Non-pustular psoriasis consists of two disease subtypes, type I and type II, which demonstrate distinct characteristics. Firstly the disease presents in different decades of life, in type I before the age of 40 years and later in type II. Secondly, contrasting frequencies of HLA alleles are found: type I patients express predominantly HLA-Cw6, -B57, and -DR7, whereas in type II patients HLA-Cw2 is overrepresented. Finally, familial inheritance is found in type I but not in type II psoriasis. The study of concomitant diseases in psoriasis contributes to deciphering the distinct patterns of the disease. Defence against invading microorganisms seems better developed in psoriatics than in controls. This evolutionary benefit may have caused the overall high incidence of psoriasis of 2%. Psoriasis is a multifactorial and heterogenetically inherited disease. The heterogeneity is evident by the diversity of genetically linked markers. The multifactorial component results from the observation of external trigger mechanisms, such as the Koebner phenomenon, stress and the intake of certain drugs. Twin studies have shown that environmental factors contribute to the onset of the disease. In type I psoriasis, special extended haplotypes such as EH57.1 (HLA-Cw6-B57-DRB1*0701-DQA1*0201-DQBl*0303) and EH65.1 (HLA-Cw8-B65-DRB1*0102-DQB1*0501) have been found to be increased. The application of microsatellite techniques has identified distinct positions on several chromosomes at which putative psoriasis genes may be located. Disease susceptibility genes are thought to be present on chromosomes 4q, 6p, 16q, 17q and 20p. Moreover, on chromosome 1q, genes regulating epidermal differentiation have been identified. Linkage to this area has been proposed. Furthermore, psoriasis gene loci on chromosomes 2, 8 and 20 have been suggested.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004030050338
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  • 55
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    Recent advances in genetic research on schizophrenia (1998)
    Springer
    Journal of biomedical science 5 (1998), S. 28-30 
    Details
    ISSN: 1423-0127
    Keywords: Genetics ; Schizophrenia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Evidence for genetic factors in schizophrenia is reviewed with regard to family, twin and adoption studies, and recent advances in molecular genetic technology are applied to explore possible gene loci susceptible to schizophrenia. Application of neuropsychological and neuroimaging methodologies are also reviewed with an aim to develop criteria for defining phenotypes for genetic studies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02253353
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  • 56
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    Prediction of febrile seizures in siblings: a practical approach (1998)
    Springer
    European journal of pediatrics 157 (1998), S. 340-344 
    Details
    ISSN: 1432-1076
    Keywords: Key words Febrile seizures ; Genetics ; Family ; Risk factors
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To quantify the risk of febrile seizures (FS) in relatives of children with FS and to predict the risk of FS in siblings, we calculated cumulative risks of FS in first degree relatives of 129 children with FS. The study was conducted as a prospective follow up study of FS recurrences at the outpatient clinic of the Sophia Children's Hospital in Rotterdam. Thirteen parents and 12 siblings had experienced FS, accounting for a 6-year cumulative risk of 7%. The risk of FS was increased in relatives of children with recurrent FS (12%). The risk of FS in siblings (10%) in our study was more than twice the average risk in a similar population (4%). A positive FS history in a parent, young age at onset in the proband, and recurrences in the proband were selected in a multivariable prediction model. If two or more of these risk factors were present, the risk of West European siblings to develop FS was 46% (hazard ratio 5.4). Conclusion The cumulative risk of FS in siblings of children with FS is increased. The age attained risk of FS can be estimated using a practical model incorporating three readily available risk factors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050824
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  • 57
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    Paternal age is a risk factor for Alzheimer disease in the absence of a major gene (1998)
    Springer
    Neurogenetics 1 (1998), S. 277-280 
    Details
    ISSN: 1364-6753
    Keywords: Key words Alzheimer disease ; Risk factors ; Parental age ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: ABSTRACT We compared the parental age at birth of patients with Alzheimer disease (AD) with that of cognitively healthy control subjects. Within 206 carefully diagnosed AD patients, two groups were distinguished according to the likelihood of carrying a major gene for AD (MGAD). This likelihood was calculated by applying a Bayesian approach which incorporates data on aggregation of the disease, age at onset, and "censoring" ages within the family. All AD patients were ranked by MGAD probability. According to the sample's quartiles, two subgroups were defined representing the 52 individuals with the lowest and the 52 with the highest MGAD probability. Age at onset of dementia, education, and apolipoprotein E ε  4 allele frequencies were not statistically different between the two groups. Fathers of patients with a low MGAD probability were significantly older (35.7±8.1 years) than fathers of both other groups (high MGAD probability 31.3±6.9 years, P =0.004; controls 32.6±6.8 years, P =0.04, n=50). The differences for mothers were less pronounced and not statistically significant. These findings suggest that increased paternal age is a risk factor for AD in the absence of a major gene, whereas increased maternal age and AD are associated only weakly and independently of genetic disposition.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100480050041
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    Recent progress in the genetics of human epilepsies (1998)
    Springer
    Neurogenetics 1 (1998), S. 153-163 
    Details
    ISSN: 1364-6753
    Keywords: Key words Epilepsy ; Genetics ; Linkage
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: ABSTRACT Despite several lines of evidence indicating a strong genetic influence in the etiology of idiopathic epilepsies, progress in the mapping and identification of human epilepsy genes has been limited until recently. In addition to the localisation and/or isolation of several genes causing progressive epilepsies associated with cerebral degeneration, at least seven human genomic regions (6p, 8q, 10q, 15q, 16p, 19q, 20q) are now known to harbour genes implicated in idiopathic epilepsies. In the case of nocturnal frontal lobe epilepsy, mutations in a nicotinic acetylcholine receptor subunit gene have been identified. Systematic studies of rare epileptic disorders inherited as monogenic Mendelian traits, as well as studies on more complex polygenic idiopathic epilepsies, are still needed in order to identify all the epilepsy genes. This will allow better diagnosis and genetic counseling in families of affected individuals, a better understanding of both the pathophysiology of epilepsies and normal brain functioning, and the design of new pharmacological and genetic therapies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100480050024
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  • 59
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    Microsatellite DNA in Actinidia chinensis: isolation, characterisation, and homology in related species (1998)
    Springer
    Theoretical and applied genetics 97 (1998), S. 1269-1278 
    Details
    ISSN: 1432-2242
    Keywords: Key words Simple sequence repeat (SSR) ; Microsatellites ; Molecular markers ; Genetics ; Kiwifruit
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  We have isolated and sequenced 263 microsatellite-containing clones from two small insert libraries of Actinidia chinensis enriched for (AC/GT) and (AG/CT) repeats, respectively. Primer pairs were designed for 203 microsatellite loci and successfully amplified from both plasmid and A. chinensis genomic DNA. In this paper we report the sequences of 40 primer pairs for which we have demonstrated Mendelian segregation in the progeny from controlled crosses. The polymorphism of ten microsatellites of each type was evaluated in four diploid and six tetraploid genotypes of A. chinensis. All microsatellites proved to be polymorphic, the number of alleles per locus detected in polyacrylamide sequencing gels ranging from 9 to 17. The high degree of polymorphism in Actinidia renders these markers useful either for mapping in A. chinensis or for fingerprinting cultivars of both domesticated kiwifruit species (A. chinensis and A. deliciosa). While most primer pairs produced single amplification products, about 20% generated banding patterns consistent with the amplification of two different loci. This supports the hypothesis that diploid species of Actinidia (2n=2x=58) are polyploid in origin with a basic chromosome number x=14/15 and that chromosome duplication may have occurred during the evolution of the genus. Finally, we have assayed the cross-species transportability of primer pairs designed from A. chinensis sequences and have found extensive cross-species amplification within the genus Actinidia; 75% of primer pairs gave successful amplification in the eight species assayed (A. arguta, A. rufa, A. polygama, A. chrysantha, A. callosa, A. hemsleyana, A. eriantha, and A. deliciosa), which are representative of the four sections into which the genus is currently split.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001220051019
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    Electronic Resource
    Fruit tree genetics at a turning point: the almond example (1998)
    Springer
    Theoretical and applied genetics 96 (1998), S. 588-601 
    Details
    ISSN: 1432-2242
    Keywords: Key words Fruit trees ; Genetics ; Almond ; Prunus amygdalus ; Breeding
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  The large size and the long generation time of fruit trees generally reduce the possibilities of obtaining genetic information on the transmission and heritability of useful agronomic traits in these species. However, from breeding work carried out with fruit trees, an important amount of data is now available, although large differences are apparent among the different species. There is not much information known about almond compared to what is available on other Prunus fruit species, but more data have been accumulated on it than on most of the other nut trees, thus making almond special among all the temperate fruit and nut species. Only five qualitative traits have been described in almond, with an additional two also possibly qualitative. Heritabilities have been estimated for an important number of quantitative traits, mainly phenological times and fruit characters. Important information is available on molecular markers, including enzymes, RFLPs, RAPDs and other recently developed markers. Linkages, however, have only been established among molecular markers, allowing accurate genetic maps to be built but not yet enabling agronomical characters to be located in these maps, probably because the latter have not been sufficiently studied. The effectiveness of the application of genetic maps in plant breeding will depend on the accuracy of the study of different agronomic traits and their expression, implying more field work and recognition of this work. Ultimately, any new fruit cultivar has to be grown in the field and has to allow the grower to make a profit.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001220050777
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    Cytological basis for a tetraspory in Cupressus sempervirens L. megagametogenesis and its implications in genetic studies (1998)
    Springer
    Theoretical and applied genetics 96 (1998), S. 776-779 
    Details
    ISSN: 1432-2242
    Keywords: Key words Cupressus sempervirens ; Cytology ; Megasporogenesis ; Megagametogenesis ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  The processes of megasporogenesis and early megagametogenesis were cytologically investigated in Cupressus sempervirens L. in order to elucidate, at the cellular level, the origin of the megagametophyte. After pollination, sporogenous tissue developed in the chalazal region of the nucellus, but only one megaspore mother cell differentiated and divided meiotically without cell-wall formation. This led to the development of a cell with four nuclei which directly functioned as a megaspore. The C. sempervirens megagametophyte is thus tetrasporic, in contrast to the majority of conifers where the megagametophyte is monosporic. The consequenses of this observation are discussed from a genetics point of view.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001220050801
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  • 62
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    Patient regrets after bilateral prophylactic mastectomy (1998)
    Springer
    Annals of surgical oncology 5 (1998), S. 603-606 
    Details
    ISSN: 1534-4681
    Keywords: Breast cancer ; Genetics ; Prophylactic mastectomy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Background: The discovery of a cadre of breast cancer susceptibility genes has resulted in an increase in the number of women seeking information about prophylactic breast surgery, but virtually no large-scale prospective databases exist to assist women considering prophylactic mastectomy. Methods: The authors constructed a National Prophylactic Mastectomy Registry comprised of a volunteer population of 817 women from 43 states who have undergone prophylactic mastectomy. Results: In the registry, 370 women had undergone bilateral prophylactic mastectomy. Twenty-one (5%) women expressed regrets about the procedure. The median follow-up was 14.6 years (mean 14.8 years; range 0.2–51 years). Those with regrets were subsetted into those with major (n=10) or minor (n=7) regrets. Regrets were more common in those women with whom discussion about prophylactic mastectomy was initiated by a physician (19/255), compared with patients who initiated the discussion themselves (2/108;P〈.05). Conclusions: The overall satisfaction rate of 95% reported here may be explained by the voluntary nature of this registry. The most important factor that predicts an unfavorable outcome following bilateral prophylactic mastectomy is a physician-initiated discussion.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02303829
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    Autosomal recessive polycystic kidney disease (1998)
    Springer
    Journal of molecular medicine 76 (1998), S. 303-309 
    Details
    ISSN: 1432-1440
    Keywords: Key words Autosomal recessive polycystic kidney disease ; Linkage study ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disorder which usually becomes clinically manifest in early childhood, although the spectrum of ARPKD is much more variable than generally known. Presentation of ARPKD at later ages and survival into adulthood have been observed in many cases. The responsible gene has been mapped to chromosome 6p. Thus there is no evidence of genetic heterogeneity. The most important indication for DNA diagnosis is the prenatal diagnosis in families with at least one affected child. The critical region has been narrowed with the use of recombinant families of about 4 cM. Several possible candidate genes have been excluded.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001090050221
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    The possibilities of modeling neural networks in the framework of the thermodynamics of genetically disordered systems (glasses) (1998)
    Springer
    Journal of biological physics 24 (1998), S. 41-58 
    Details
    ISSN: 1573-0689
    Keywords: Neural networks ; Associative memory ; Brain functions ; Disordered systems ; Genetics ; Synergetics ; Self-organization ; Vitreous state
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Physics
    Notes: Abstract Non-spin glasses possess a number of specific features which, in structural and dynamic aspects, are close to conditions necessary for neural networks to function. In a disordered network there exists a plurality of structural parameters and a number of two-level states defined by double-well potentials. Their characteristics are specified by the conditions of glass formation, i.e. by genesis. The thermodynamic description of glass as a self-organizing system (that does not require introducing an interacting potential model) leads to an unambiguous conclusion that its frequency spectrum is predetermined by the structure, which is characterized by zero-point entropy. Glass is a natural system of oscillators which form a disordered network. In this sense, glass conforms to a known model of a disordered neural network formed by interconnected oscillators. If one assumes that in living organisms the structure of a neural network (the brain) is inherited according to a genetic mechanism, the quickness of learning and recognition of patterns, the stability of associative memory and other capabilities have to be inherited genetically. The more ordered a neural network formed by distinguishable neurons, the better its capabilities.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005071706864
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  • 65
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    Genetic and Shared Environmental Influences on Adolescent BMI: Interactions with Race and Sex (1998)
    Springer
    Behavior genetics 28 (1998), S. 265-278 
    Details
    ISSN: 1573-3297
    Keywords: Genetics ; body mass index ; adolescents ; race ; sex
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Psychology
    Notes: Abstract The present study uses a behavioral genetic design to investigate the genetic and environmental influences on variation in adolescent body mass index (BMI) and to determine whether the relative influences of genetic and environmental factors on variation in BMI are similar across racial groups and sexes. Data for the present study come from the National Longitudinal Study on Adolescent Health (Add Health), a large, nationally representative study of adolescent health and health-related behaviors. The Add Health sample contains a subset of sibling pairs that differs in levels of genetic relatedness, making it well suited for behavioral genetics analyses. The present study examines whether genetic and environmental influences on adolescent BMI are the same for males and females and for Black and White adolescents. Results indicate that genetic factors contribute substantially to individual differences in adolescent BMI, explaining between 45 and 85% of the variance in BMI. Furthermore, based on an analysis of opposite-sex sibling pairs, the genes that influence variation in adolescent BMI are similar for males and females. However, the relative importance of genetic and environmental influences on variation in BMI differs for males and females and for Blacks and Whites. Although parameter estimates could be constrained to be equal for Black and White males, they could not be constrained to be equal for Black and White females. Moreover, the best-fitting model for Black females was an ADE model, for White females it was an ACE model, and for males it was an AE model. Thus, shared environmental influences are significant for White female adolescents, but not for Black females or males. Likewise, nonadditive genetic influences are indicated for Black females, but not for White females or males. Implications of these results are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1021619329904
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    Neuronal ceroid lipofuscinoses: a review (1998)
    Springer
    Neurological sciences 19 (1998), S. 271-276 
    Details
    ISSN: 1590-3478
    Keywords: Neuronal ceroid lipofuscinosis ; Clinical features ; Classification ; Diagnosis ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Le ceroido lipofuscinosi neuronali (NCL) sono tra le encefalopatie progressive più freguenti nell'infanzia ed interessano, seppure più raramente, l'adulto. Clinicamente sono caratterizzate da demenza, deficit visivo, epilessia e disturbi motori. Gli aspetti patologici specifici sono rappresentati da degenerazione neuronale ed accumulo lisosomiale di lipopigmento in differenti tipi cellulari. Il difetto biochimico della malattia non e noto. La classificazione delle NCL, basata su criteri clinici, distingue sei forme classiche ed altre forme atipiche. L'elettrofisiologia e la neuroradiologia sono di importante ausilio diagnostico, ma la diagnosi si fonda sull'identificazione dell'accumulo di lipopigmento the presenta pattern ultrastrutturali specifici. Differenti difetti genetici sono stati dimostrati in diverse forme cliniche, ma il meccanismo patogenetico molecolare rimane ancora da chiarire.
    Notes: Abstract Neuronal ceroid lipofuscinoses (NCLs) are among the most common neurodegenerative diseases in childhood but rarely present in adulthood. The main symptoms are psychomotor deterioration, visual failure, epilepsy and motor disturbances. The NCLs are morphologically characterized by the accumulation of lipopigments within numerous cell types and loss of neurons. Pathogenesis is unknown. The current clinical classification recognizes six classic types of NCL and several atypical forms. Electrophysiological and neuroradiological findings may be of diagnostic significance, but disease recognition rests on the demonstration of a typical ultrastructural pattern. Genetic studies have demonstrated that several different genetic loci are involved in the pathogenesis of NCL, but the molecular mechanisms underlying neuronal death and lipopigment accumulation are not understood.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00713852
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    Molecular Genetic Investigations of Autism (1998)
    Springer
    Journal of autism and developmental disorders 28 (1998), S. 427-437 
    Details
    ISSN: 1573-3432
    Keywords: Genetics ; autism ; genotyping
    Source: Springer Online Journal Archives 1860-2000
    Topics: Psychology
    Notes: Abstract Genetic factors are likely to play a major role in the etiology of autism. The genetics of the disorder is however complex, probably involving the action of several genes. In an attempt to identify autism susceptibility loci we are currently undertaking a systematic screening of the whole human genome using multiplex families. We describe the resources and the methods needed to achieve such a task, including extensive collection of family data, semiautomated genotyping technology, and specialized statistical approaches for linkage analysis of complex traits.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1026056522602
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    Division of labor between scouts and recruits: genetic influence and mechanisms (1998)
    Springer
    Behavioral ecology and sociobiology 43 (1998), S. 191-196 
    Details
    ISSN: 1432-0762
    Keywords: Key words Honeybees ; Scouting ; Division of labor ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Every recruitment system in social insects requires some individuals that serve as scouts, foragers that search independently for food sources. It is not well understood which factors influence whether an individual becomes a scout or a recruit, nor how the division of labor between the two forager groups is regulated. It is shown here for honeybees (Apis mellifera), using two different molecular techniques, that there is a genetically based difference in the probability that individuals will scout independently for food. In contrast to earlier suggestions, experimental tests showed that the age of a bee does not seem to influence its probability of becoming a scout or a recruit. Furthermore, scout bees do not search opportunistically for either pollen or nectar but, rather, individuals have preferences that are genetically based. These findings are discussed in the framework of foraging regulation by specialization in honeybees and the adaptive significance of polyandry.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002650050480
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  • 69
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    Vom Genotyp zum Phänotyp Molekulargenetische Diagnostik bei Intersexualität (1998)
    Springer
    Monatsschrift Kinderheilkunde 146 (1998), S. 86-91 
    Details
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Geschlechtliche Differenzierung ; Androgenrezeptor ; Genetik ; Genotyp-Phänotyp-Korrelation ; Key words Sexual differentiation ; Androgen receptor ; Genetics ; Genotype-phenotype-correlation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The determination of the genetic background of sexual development has not only assisted in the explanation of intersex disorders, but also in the diagnosis and clinical management of affected individuals. The possibilities and limitations of molecular genetic studies can be illustrated by the example of androgen insensitivity syndromes. The search for the underlying mutations within the androgen receptor gene is technically possible even for large numbers of patients. The characterization of mutations can be performed with high specificity and sensitivity. While large gene defects are associated with complete loss of function of the receptor, point mutations with subsequent amino acid changes are responsible for the phenotypic variability of the disease. Type and location of the amino acid substitution may influence the clinical appearance of the individual patient, but the phenotype can be highly variable even with the same underlying mutation. This is probably due to regulation mechanisms within the cell of which the androgen receptor is only one, although important, part. Therefore, results of molecular genetic testing have to be interpreted only in connection with clinical and laboratory findings. Further research will focus on the elucidation of the cellular mechanisms of androgen action in order to introduce the results into the clinical management of patients with androgen insensitivity.
    Notes: Zusammenfassung Die Aufdeckung der genetischen Grundlagen von Störungen der Geschlechtsentwicklung hat neue Möglichkeiten nicht nur in der Erklärung dieser Erkrankungen, sondern auch für die Diagnostik und den klinischen Umgang mit betroffenen Individuen eröffnet. Am Beispiel der Androgenresistenz können die Erfolge, aber auch die Grenzen molekulargenetischer Untersuchungen aufgezeigt werden. Die Suche nach den zugrundeliegenden genetischen Veränderungen im Androgenrezeptorgen ist heute technisch auch zur Analyse größerer Patientenzahlen anwendbar. Der Nachweis von Mutationen kann mit hoher Sensitivität und Spezifität in großen Genabschnitten durchgeführt werden. Während größere Gendefekte mit einem völligen Funktionsverlust des Rezeptors einhergehen, sind Punktmutationen, die zu Veränderungen der Aminosäuresequenz führen, für das große phänotypische Spektrum der Androgenresistenz verantwortlich. Zwar wird das klinische Erscheinungsbild durch Art und Ort der Aminosäuresubstitution mitbestimmt, dennoch kann der Phänotyp auch bei gleicher Mutation sehr variabel sein. Dies ist mit großer Wahrscheinlichkeit auf zelluläre Regulationsmechanismen zurückzuführen, in deren Wirkungskette der Androgenrezeptor nur ein Glied, wenn auch ein wichtiges, darstellt. Daher müssen molekulargenetische Befunde immer in Zusammenhang mit den anamnestischen, klinischen und laborchemischen Parametern gesehen werden. Ziel wissenschaftlicher Untersuchungen ist es, die zellulären Mechanismen der Androgenwirkung weiter aufzuklären, um diese Erkenntnisse dann möglicherweise in die therapeutischen Entscheidungen bei Patienten mit Androgenresistenz einfließen zu lassen.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001120050248
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    Flow cytometry and cell sorting for yeast viability assessment and cell selection (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 147-160 
    Details
    ISSN: 0749-503X
    Keywords: yeast physiology ; yeast viability ; flow cytometry ; bakers yeast ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Yeast suspensions were analysed by flow cytometry after dye staining for determination of total and viable cell densities. Results were comparable to traditional colony counting and, in addition, provided further information on the percentage of total cells that were viable. The flow cytometric methods provided results within 20 min whereas colony counts were not available until 36 h. We evaluated a number of fluorescent dyes: ChemChrome Y (CY), oxonol (Ox), propidium iodide (PI), Fungolight and rhodamine 123, for accurate determination of viability of industrial yeast cultures and freshly re-hydrated high activity dried yeast (HADY). PI, Ox and CY gave the most conclusive live/dead discrimination and were the simplest to use. Culturing after dye staining and cell sorting demonstrated that the yeast remained viable after cell sorting and incubation with PI, CY or Ox. The methods, therefore, permit physical selection of individual yeast cells from populations of mixed viability. Sorting demonstrated that PI stained non-culturable cells whilst CY stained culturable cells. Analysis of yeast stained simultaneously with CY and PI or with Ox and PI demonstrated that PI and CY assays were in mutual agreement with respect to viability assessments. The Ox assay was in agreement with CY and PI for live/heat-killed mixtures. However, for re-hydrated HADY, Ox stained a significantly (P≤0·05) higher proportion of cells than did PI. © 1998 John Wiley & Sons, Ltd.
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    Investigation of two yeast genes encoding putative isoenzymes of phosphoglycerate mutase (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 203-213 
    Details
    ISSN: 0749-503X
    Keywords: GPM2 ; GPM3 ; phosphoglycerate mutase ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Our previous data indicated that GPM1 encodes the only functional phosphoglycerate mutase in yeast. However, in the course of the yeast genome sequencing project, two homologous sequences, designated GPM2 and GPM3, were detected. They have been further investigated in this work. Key residues in the deduced amino acid sequence, shown to be involved in catalysis for Gpm1 (i.e. His8, Arg59, His181) are conserved in both enzymes. Overexpression of the genes under control of their own promoters in a gpm1 deletion mutant did not complement for any of the phenotypes. This could in part be attributed to a lack of expression due to their weak promoters. Higher level expression under the control of the yeast PFK2 promoter partially complemented the gpm1 defects, without restoring detectable enzymatic activity. Nevertheless, deletion of either GPM2 or GPM3, or the two deletions in concert, did not produce any obvious lesions for growth on a variety of different carbon sources, nor did they change the levels of key intermediary metabolites. We conclude that both genes evolved from duplication events and that they probably constitute non-functional homologues in yeast.
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    The SPL1 tRNA splicing gene of Candida maltosa and Candida albicans (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 287-295 
    Details
    ISSN: 0749-503X
    Keywords: Candida maltosa ; Candida albicans ; tRNA splicing gene ; silent genes ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: The tRNA splicing gene SPL1-1 has been cloned and sequenced in Saccharomyces cerevisiae (Kolman and Soll, 1993). Sequence adjacent to the LEU2 gene in Candida maltosa showed some homology to the SPL1-1 gene of S. cerevisiae. This work describes the sequencing of the SPL1 tRNA splicing genes from C. maltosa and C. albicans and the analysis of these genes. Comparison of these sequences and the relationship observed between the LEU2 and SPL1 genes in these yeasts suggests that there may be some synteny amongst various species of yeasts. The coding region of the C. maltosa SPL1 region described in this work differs from previously described partial sequences in that it is a complete uninterrupted open reading frame. Two strains of C. maltosa were each shown to contain different alleles, one uninterrupted open reading frame and one disrupted open reading frame. The sequences have been deposited in the GenBank/EMBL data libraries under Accession Numbers X72940, AF000115, AF000116, AF000117, AF000118, AF000119 and AF000120. © 1998 John Wiley & Sons, Ltd.
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    Isolation and characteristics of yeasts able to grow at low concentrations of nutrients (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 233-238 
    Details
    ISSN: 0749-503X
    Keywords: Oligotrophic yeasts ; low-nutrient conditions ; starvation ; Cryptococcaceae ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Seven oligotrophic yeasts, which can grow in a 104-fold dilution of malt-yeast-glucose-peptone medium (10-4 YM), were mainly isolated from soil. These yeasts belong to the Cryptococcaceae. When inoculated at about 102 cells/ml in 10-4 YM, the isolates grew to 1·4×103-2·4×105 cells/ml after 3 days. Some culture collection yeasts fell into three groups according to their growth characteristics in 10-4 YM, one group showing characteristics of the oligotrophic yeasts. The half-saturation values of uptake by the five isolated oligotrophic yeasts for D-glucose, L-leucine and L-amino acids were 6·0-25·0, 1·7-43·3 and 3·5-21·6 μM, respectively. The oligotrophic yeasts suspended in 10 mM-phosphate buffer (pH 6·0) had high tolerances for starvation, and remained more than 15% viable after 90 days of starvation. © 1998 John Wiley & Sons, Ltd.
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    Mam33p, an oligomeric, acidic protein in the mitochondrial matrix of Saccharomyces cerevisiae is related to the human complement receptor gC1q-R (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 303-310 
    Details
    ISSN: 0749-503X
    Keywords: Saccharomyces cerevisiae ; mitochondria ; mitochondrial matrix ; homo-oligomeric protein ; Mam33p ; gene disruption ; gC1q-R ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Mam33p (mitochondrial acidic matrix protein) is a soluble protein, located in mitochondria of Saccharomyces cerevisiae. It is synthesized as a precursor with an N-terminal mitochondrial targeting sequence that is processed on import. Mam33p assembles to a homo-oligomeric complex in the mitochondrial matrix. It can bind to the sorting signal of cytochrome b2 that directs this protein into the intermembrane space. Mam33p is encoded by an 801 bp open reading frame. Gene disruption did not result in a significant growth defect. Mam33p exhibits sequence similarity to gC1q-R, a human protein that has been implicated in the binding of complement factor C1q and kininogen. © 1998 John Wiley & Sons, Ltd.
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    Assembly of phosphofructokinase-1 from Saccharomyces cerevisiae in extracts of single-deletion mutants (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 323-334 
    Details
    ISSN: 0749-503X
    Keywords: phosphofructokinase-1 ; Saccharomyces cerevisiae ; deletion mutants ; reactivation ; assembly ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Phosphofructokinase-1 from Saccharomyces cerevisiae is an octameric enzyme comprising two non-identical subunits, α and β, which are encoded by the unlinked genes PFK1 and PFK2. In this paper, assembly and reactivation of the enzyme have been studied in cell-free extracts of single-deletion mutants. In contrast to the previously described lack of phosphofructokinase-1 activity in cell-free extracts of these mutants, we could measure a temporary enzyme activity immediately after lysis of protoplasts. This result supports the assumption that each of the subunits forms an enzyme structure which is active in vivo but not stable after cell disruption.Upon mixing of separately prepared cell-free extracts of both deletion mutants very low activity could be measured. About 40% of the wild-type activity was regained when both mutants were mixed prior to disruption. The reactivation rate could be slightly increased by addition of ATP and fructose 6-phosphate and was found to be a function of the growth state, particularly of the β-subunit-carrying cells. The individual subunits did not interact with Cibacron Blue F3G-A, a biomimetic ligand of phosphofructokinase-1. After reassembly of both subunits in vitro a strong affinity of the reconstituted phosphofructokinase-1 to the dye-ligand was observed.The inability of the subunits to reconstitute under certain conditions seems to result from alterations of the intracellular environment following disruption. These changes give rise to induce an unproductive side reaction like self-aggregation of the subunits.Because reconstitution of phosphofructokinase-1 from S. cerevisiae behaves in a similar way to that of hemoglobin and luciferase, we would speculate a general mechanism for assembly of oligomeric proteins in vivo. © 1998 John Wiley & Sons, Ltd.
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    The importance of the glycerol 3-phosphate shuttle during aerobic growth of Saccharomyces cerevisiae (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 347-357 
    Details
    ISSN: 0749-503X
    Keywords: Saccharomyces ; redox ; glycerol ; NADH ; shuttle ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Maintenance of a cytoplasmic redox balance is a necessity for sustained cellular metabolism. Glycerol formation is the only way by which Saccharomyces cerevisiae can maintain this balance under anaerobic conditions. Aerobically, on the other hand, several different redox adjustment mechanisms exist, one of these being the glycerol 3-phosphate (G3P) shuttle. We have studied the importance of this shuttle under aerobic conditions by comparing growth properties and glycerol formation of a wild-type strain with that of gut2Δ mutants, lacking the FAD-dependent glycerol 3-phosphate dehydrogenase, assuming that the consequent blocking of G3P oxidation is forcing the cells to produce glycerol from G3P. To impose different demands on the redox adjustment capability we used various carbon sources having different degrees of reduction.The results showed that the shuttle was used extensively with reduced substrate such as ethanol, whereas the more oxidized substrates lactate and pyruvate, did not provoke any activity of the shuttle. However, the absence of a functional G3P shuttle did not affect the growth rate or growth yield of the cells, not even during growth on ethanol. Presumably, there must be alternative systems for maintaining a cytoplasmic redox balance, e.g. the so-called external NADH dehydrogenase, located on the outer side of the inner mitochondrial membrane. By comparing the performance of the external NADH dehydrogenase and the G3P shuttle in isolated mitochondria, it was found that the former resulted in high respiratory rates but a comparably low P/O ratio of 1·2, whereas the shuttle gave low rates but a high P/O ratio of 1·7.Our results also demonstrated that of the two isoforms of NAD-dependent glycerol 3-phosphate dehydrogenase, only the enzyme encoded by GPD1 appeared important for the shuttle, since the enhanced glycerol production that occurs in a gut2Δ strain proved dependent on GPD1 but not on GPD2. © 1998 John Wiley & Sons, Ltd.
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    Construction of PCR-ligated long flanking homology cassettes for use in the functional analysis of six unknown open reading frames from the left and right arms of Saccharomyces cerevisiae chromosome XV (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 391-399 
    Details
    ISSN: 0749-503X
    Keywords: modified LFH cassette ; EUROFAN 6-pack analysis ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Six open reading frames (ORFs) of unknown function from Saccharomyces cerevisiae chromosome XV, three from the left and three from the right arm, were deleted in two diploid strains by the short flanking homology method (Wach et al., 1994). Transformants were selected as Geneticin (G418)-resistant colonies and correct integration of the kanMX4 cassette was checked by colony PCR. Following sporulation of the diploids, tetrads were dissected and scored for the segregation of the G418-resistant marker. We have developed a widely applicable method for the construction of gap repair plasmids to obtain the cognate clones for each of the disrupted ORFs. The 5′- and 3′-flanks of the ORF in question are linked by a unique restriction endonuclease. When the plasmid is cut at this site it can be used to obtain, by selection for the appropriate antibiotic resistance, long flanking homology (LFH) cassettes containing the cognate clone or the disrupted allele. The LFH cassette containing the cognate clone or the disrupted allele can be released from the gap-repaired plasmid by cutting at the inserted flanking restriction sites. One of the six ORFs (YOR319w) corresponds to an essential gene whose product is part of the spliceosome complex. Haploid as well as homozygous and heterozygous diploid disruptant strains for each of the five non-essential ORFs were subjected to growth test on different media at 15°C, 30°C and 37°C. Disruption of YOR322c causes osmotically sensitive growth on YEPD at 37°C and the product of YOL091w appears to play a role in sporulation since the homozygous diploid disruptant has lost the ability to sporulate. © 1998 John Wiley & Sons, Ltd.
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    Homolog of a-factor receptor gene in Saccharomyces exiguus (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 583-586 
    Details
    ISSN: 0749-503X
    Keywords: Saccharomyces exiguus ; STE3 ; homolog ; sequence analysis ; differentiation of species ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Homologs of Saccharomyces cerevisiae STE3, a-factor receptor gene were detected from S. exiguus NFRI 3539 by low stringency Southern hybridization. This strain might have at least two types of homolog. One of these homologs, designated as e-STE3 was cloned. Its nucleotide sequence revealed 60% identity to STE3. The putative protein coding region consisted of 453 amino acid residues. The amino acid sequence identity between STE3 and e-STE3 was 62%, and that of the N-terminal 303 amino acid residues considered to be the pheromone binding domain was 79%. The e-STE3 sequence submitted to the DDBJ/EMBL/GenBank data libraries is available under Accession Number AB003086. © 1998 John Wiley & Sons, Ltd.
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    An improved protocol for the preparation of yeast cells for transformation by electroporation (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 565-571 
    Details
    ISSN: 0749-503X
    Keywords: Saccharomyces cerevisiae ; electroporation ; transformation ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Pretreatment of yeast cells with lithium acetate (LiAc) and dithiothreitol (DTT) enhances the frequency of transformation by electroporation. The method shows improvements of 6-67-fold in wild-type strains derived from commonly used Saccharomyces cerevisiae genetic backgrounds. In addition, 15-300-fold improvement in transformation frequency was achieved with several mutant strains of S. cerevisiae that transformed poorly by conventional procedures. Both DTT and lithium acetate were necessary for maximal transformation frequencies. Pretreatment with lithium and DTT also resulted in an ∼3·5-fold increase in the electroporation transformation frequency of the pathogenic fungus Candida albicans. © 1998 John Wiley & Sons, Ltd.
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    Deletion of transmembrane domain 12 of CDR1, a multidrug transporter from Candida albicans, leads to altered drug specificity: Expression of a yeast multidrug transporter in baculovirus expression system (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 535-550 
    Details
    ISSN: 0749-503X
    Keywords: multidrug resistance ; CDR1 ; ABC transporter ; baculovirus expression ; C. albicans ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Cdr1p, an ATP-binding cassette transporter from the pathogenic yeast Candida albicans, confers resistance to several unrelated drugs including anti-Candida drugs (Prasad et al., 1995b). We demonstrate that the deletion of 237 bp (79 aa) from the 3′ end of CDR1 (which encompasses the transmembrane domain (TM) 12 of the putative transporter) did not result in the total loss of its ability to efflux cytotoxic agents. While the expression of ΔCDR1 in yeast resulted in impaired sensitivity to drugs like cycloheximide, anisomycin, sulfomethuron methyl and antifungal nystatin, its ability to confer resistance remained unaltered to drugs such as o-phenanthroline, 4-nitroquinoline-N-oxide, cerulenin, azoles, oligomycin, erythromycin, and benomyl. Similar to human MDR1p, Cdr1p might also have localized drug binding sites in TM 12, but that might not be the case for all the drugs. The TM 12 deletion also did not lead to any significant impairment in NTPase activities. Both ATPase and UTPase activities of complete Cdr1p and ΔCdr1p were not significantly altered, as was the case with respect to their ability to efflux Rh123 and steroid hormone like [3H]-β-estradiol. To further dissect the functionality of Cdr1p, its truncated version was overexpressed in a baculovirus-insect cell expression system. The synthesis of ΔCdr1p in Sf9 cells was temporally regulated as a function of the baculovirus polyhedrin gene promoter. The Sf9 derived ΔCdr1p was ∼130 kDa, which was lower than the expected size, probably due to the differences in glycosylation. This, however, did not affect the functionality of ΔCdr1p. The deletion of TM 12 did not affect the targeting of the protein and ΔCdr1p was exclusively localized in plasma membrane of Sf9 cells as detected by immunofluorescence. The expression of ΔCdr1p in the baculovirus-insect expression system generated a high drug-stimulated plasma membrane-bound ATPase activity which was not demonstrable when ΔCdr1p was expressed in yeast. © 1998 John Wiley & Sons, Ltd.
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    Nucleotide sequence of the Schizosaccharomyces pombe lys1 + Gene and Similarities of the lys1+ protein to peptide antibiotic synthetases (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 479-484 
    Details
    ISSN: 0749-503X
    Keywords: lys1+ gene ; Schizosaccharomyces pombe ; α-aminoadipate reductase ; peptide synthetase ; lysine biosynthesis ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: The 4·2 kbp lys1+ gene of Schizosaccharomyces pombe encoding the large subunit of α-aminoadipate reductase (EC1.2.1.31), an enzyme specific to lysine synthesis in higher fungi, was completely sequenced at the nucleotide level from pLYS1H. The S. pombe lys1+ gene product consists of 1415 amino acid residues and has a putative molecular weight of 155·8 kDa. The encoded protein converts α-aminoadipic acid to α-aminoadipate-δ-semialdehyde by an ATP-mediated adenylation. Analysis of the sequence showed that the putative protein encoded by lys1+ shares strong homology with the peptide antibiotic synthetases which also use an adenylation step. The sequence data reported in this paper have been submitted to GenBank database (Washington DC, USA) under the Accession Number U15923. © 1998 John Wiley & Sons, Ltd.
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    Heat shock transiently enhances the synthesis rate of Sis1p, a ribosome-associated DnaJ protein in the oleagenous yeast Apiotrichum curvatum (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 419-430 
    Details
    ISSN: 0749-503X
    Keywords: Apiotrichum curvatum ; cDNA sequence ; DnaJ protein ; cytosolic Hsp70s ; ribosome association ; Sis1 protein ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: DnaJ proteins have been localized in different intracellular compartments of eukaryotes. In Apiotrichum curvatum, a fat-storing yeast, we found a DnaJ homolog associated with ribosomes and large cytosolic complexes as well. Using a plant DnaJ probe and a cDNA library constructed from poly(A)+ -RNA of A. curvatum grown on oleate we isolated a SIS1 cDNA coding for a 39·5 kDa protein. The putative protein contains neither a zinc finger motif nor a CAAX motif but is characterized by a J-domain at the N-terminal region and a large G-rich region in the middle part of the molecule. Heat shock applied for 1 h resulted in a pronounced but transient increase of the SIS1 mRNA. An antiserum was raised against the bacterially expressed protein. Cell fractions from A. curvatum were further separated by sedimentation centrifugation on sucrose gradients. Analysing the sub-fractions, we detected Sis1p mainly associated with ribosomes, and with particles sedimenting at approximately 200S. Hsp70 was found to be associated with the 200S fraction. The respective cytosolic A. curvatum Hsp70 cDNA was cloned and sequenced. High salt conditions caused the removal of Hsp70 and Sis1p from the 200S complexes. Mild RNase treatment of the 200S fraction afforded monosomes and 200S complexes unaffected by RNase. Heat shock led to a pronounced increase in the rate of de novo synthesis. However, due to the large pools of Sis1p on ribosomes and large cytosolic complexes, the increase in gene activation did not lead to a significant change of the total amount of Sis1p. Accession numbers are: Y12079 for ACHSP70 and Y12080 for ACSIS1. © 1998 John Wiley & Sons, Ltd.
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    Evolution of gene order and chromosome number in Saccharomyces, Kluyveromyces and related fungi (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 443-457 
    Details
    ISSN: 0749-503X
    Keywords: evolution ; polyploidy ; gene duplication ; gene order ; LEU2 ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: The extent to which the order of genes along chromosomes is conserved between Saccharomyces cerevisiae and related species was studied by analysing data from DNA sequence databases. As expected, the extent of gene order conservation decreases with increasing evolutionary distance. About 59% of adjacent gene pairs in Kluyveromyces lactis or K. marxianus are also adjacent in S. cerevisiae, and a further 16% of Kluyveromyces neighbours can be explained in terms of the inferred ancestral gene order in Saccharomyces prior to the occurrence of an ancient whole-genome duplication. Only 13% of Candida albicans linkages, and no Schizosaccharomyces pombe linkages, are conserved. Analysis of gene order arrangements, chromosome numbers, and ribosomal RNA sequences suggests that genome duplication occurred before the divergence of the four species in Saccharomyces sensu stricto (all of which have 16 chromosomes), but after this lineage had diverged from Saccharomyces kluyveri and the Kluyveromyces lactis/marxianus species assemblage. © 1998 John Wiley & Sons, Ltd.
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    Regulation of alcoholic fermentation in batch and chemostat cultures of Kluyveromyces lactis CBS 2359 (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 459-469 
    Details
    ISSN: 0749-503X
    Keywords: Crabtree effect ; yeast ; biomass ; Kluyveromyces lactis ; oxygen ; pyruvate decarboxylase ; regulation ; fermentation ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Kluyveromyces lactis is an important industrial yeast, as well as a popular laboratory model. There is currently no consensus in the literature on the physiology of this yeast, in particular with respect to aerobic alcoholic fermentation (‘Crabtree effect’). This study deals with regulation of alcoholic fermentation in K. lactis CBS 2359, a proposed reference strain for molecular studies. In aerobic, glucose-limited chemostat cultures (D=0·05-0·40 h-1) growth was entirely respiratory, without significant accumulation of ethanol or other metabolites. Alcoholic fermentation occurred in glucose-grown shake-flask cultures, but was absent during batch cultivation on glucose in fermenters under strictly aerobic conditions. This indicated that ethanol formation in the shake-flask cultures resulted from oxygen limitation. Indeed, when the oxygen feed to steady-state chemostat cultures (D=0·10 h-1) was lowered, a mixed respirofermentative metabolism only occurred at very low dissolved oxygen concentrations (less than 1% of air saturation). The onset of respirofermentative metabolism as a result of oxygen limitation was accompanied by an increase of the levels of pyruvate decarboxylase and alcohol dehydrogenase. When aerobic, glucose-limited chemostat cultures (D=0·10 h-1) were pulsed with excess glucose, ethanol production did not occur during the first 40 min after the pulse. However, a slow aerobic ethanol formation was invariably observed after this period. Since alcoholic fermentation did not occur in aerobic batch cultures this is probably a transient response, caused by an imbalanced adjustment of enzyme levels during the transition from steady-state growth at μ=0·10 h-1 to growth at μmax. It is concluded that in K. lactis, as in other Crabtree-negative yeasts, the primary environmental trigger for occurrence of alcoholic fermentation is oxygen limitation. © 1998 John Wiley & Sons, Ltd.
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    Influence of monovalent cations on yeast cytoplasmic and vacuolar pH (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 501-515 
    Details
    ISSN: 0749-503X
    Keywords: Saccharomyces cerevisiae ; bakers' yeast ; pH homeostasis ; cytoplasmic pH ; vacuolar pH ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: The effects of monovalent cations on the internal pH of yeast were studied. Our former procedure was modified, inducing maximal alkalinization of the cells with 100 mM-NH4OH instead of Tris base. The pH values were lower than reported before (Peña et al., J. Bacteriol. 1995 177, 1017-1022). With glucose as substrate, the internal cytoplasmic pH reached higher values when incubating at an external pH of 6·0, as compared to pH 4·0. Monovalent cations added approximately 5 min after glucose produced a further increase in the internal pH, which was higher at a previous incubation pH of 4·0 than that observed at pH 6·0. The selectivity of the changes followed a similar order to that of the transport system for monovalent cations.When incubating cells with glucose for more than 30 min, the initial changes of the internal pH appeared to be regulated by the cell. However, under the fluorescence microscope, it was observed that pyranine, which was confined to the cytoplasm during the first 15 min, was progressively concentrated in the vacuole. By studying the fluorescence changes of cells electroporated and then incubated with glucose or glucose plus potassium, we could follow the internal pH of this organelle, obtaining values within the range reported by other authors. Also, in cells preincubated with glucose for 60 min, and electroporated afterwards, the fluorescence of pyranine, which only entered the cytoplasm, allowed us to measure the pH of this compartment, showing that it was more alkaline than the vacuole. Moreover, the cytoplasmic pH increased upon addition of glucose or potassium. The vacuolar pH, on the other hand, increased upon addition of potassium after glucose, but decreased upon addition of glucose. In addition, incubation of the cells with glucose with or without pyranine produced vesiculation of the vacuole. © 1998 John Wiley & Sons, Ltd.
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    A family of laboratory strains of Saccharomyces cerevisiae carry rearrangements involving chromosomes I and III (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 551-564 
    Details
    ISSN: 0749-503X
    Keywords: yeast ; S. cerevisiae ; genetics ; karyotypes ; chromosomal rearrangements ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: In order to study meiotic segregation of chromosome length polymorphism in yeast, we analysed the progeny of a cross involving two laboratory strains FL100trp and YNN295. Analysis of the parental strains led us to detect an important length polymorphism of chromosomes I and III in FL100trp. A reciprocal translocation involving 80 kb of the left arm of chromosome III and 45 kb of the right arm of chromosome I was shown to be the cause for the observed polymorphism in this strain. The characterization of the translocation breakpoints revealed the existence of a transposition hot-spot on chromosome I: the sequence of the translocation joints on chromosomes I and III suggests that the mechanism very likely involved homologous recombination between Ty2 transposable elements on each chromosome. Analysis of FL100, FL200 and FL100trp ura, which are related to FL100trp, shows that this reciprocal translocation is present in some of the strains of the FL series, whereas the parental strain FL100 does not carry the same rearrangement. We evidenced instead the duplication of 80 kb of chromosome III on chromosome I and a deletion of 45 kb of the right arm of chromosome I in this strain, indicating that secondary events might have taken place and that the strain currently named FL100 is not the common ancestor of the FL series. © 1998 John Wiley & Sons, Ltd.
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  • 87
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    Identification of a putative histidine kinase two-component phosphorelay gene (CaHK1) in Candida albicans (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 665-674 
    Details
    ISSN: 0749-503X
    Keywords: histidine kinase ; phosphorylation ; signal transduction ; gene ; two-component ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: We have cloned and analysed the sequence of a putative histidine kinase, two-component gene (CaHK1) from Candida albicans. This gene encodes a 2471 amino acid protein (Cahk1p) with an estimated molecular mass of 281·8 kDa. A homology search of Cahk1p with other proteins in the databases showed that Cahk1p exhibits the greatest homology at its C-terminus with both the sensor and regulator components of prokaryotic and eukaryotic two-component histidine kinases. A further analysis of this homology showed that the Cahk1p possessed both sensor and regulator domains in the same polypeptide. Also, Cahk1p is likely to be a soluble protein. The sensor kinase domain of Cahk1p contains conserved motifs that are characteristic of all histidine kinase proteins, including the putative histidine which is believed to be autophosphorylated during activation, ATP binding motifs and others (F- and N-motifs), with unknown function. The Cahk1p regulator domain also contains conserved aspartate and lysine residues and the putative aspartate, which is secondarily phosphorylated by the autophosphorylated histidine. Finally, according to the codon usage frequency of the CaHK1 gene in comparison with other genes from C. albicans, there would appear to be a low level of expression of the gene. The accession number for the described sequence is AF013273, as filed in the EMBL/GenBank/DDBJ database. © 1998 John Wiley & Sons, Ltd.
    Additional Material: 5 Ill.
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  • 88
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    Genomic disruption of six budding yeast genes gives one drastic example of phenotype strain-dependence (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 655-664 
    Details
    ISSN: 0749-503X
    Keywords: Saccharomyces cerevisiae ; PCR-based disruption ; YOL113w ; YOL100w ; YOL107w ; YOR267c ; YGL196w ; YGL194c ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Using PCR to construct disruption cassettes, null alleles of six genes have been created in Saccharomyces cerevisiae. In a FY1679 background, no defects were detected in any of the haploid deletion mutants with respect to growth, gross morphology, or mating. A diploid FY1679-derived Δygl194c/Δygl194c homozygous disruptant displayed reduced sporulation. In contrast to the lack of phenotypic consequences of Δyol100w disruptions in the FY1679 background, in the CEN.PK2 strain even a heterozygous disruption of the same gene caused striking effects, very slow vegetative growth and highly impaired sporulation. Tetrad analysis showed YOL100w to be an essential gene in this strain. A copy of the YGL194c or the YOL100w wild-type gene borne on a centromeric episomal plasmid was introduced into a corresponding disruption mutant strain, and in both cases was found to partially complement the defects. © 1998 John Wiley & Sons, Ltd.
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  • 89
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    Secretion and pH-dependent self-processing of the pro-form of the Yarrowia lipolytica acid extracellular protease (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 1115-1125 
    Details
    ISSN: 0749-503X
    Keywords: Yarrowia lipolytica ; secretion ; pH ; extracellular protease ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: The secretion and maturation of the acid extracellular protease (AXP) of the yeast Yarrowia lipolytica have been characterized using antiserum raised against this enzyme. A 42 kDa pro-enzyme form of AXP was identified from lysates of radiolabelled Y. lipolytica cells and found to contain no N-linked carbohydrate moieties. Using pulse-chase immune precipitation it was demonstrated that the AXP precursor was secreted into the extracellular medium where, under conditions of low pH, it underwent autocatalytic activation forming the mature enzyme. Conversion of the AXP pro-form in the presence of the protease inhibitor pepstatin indicated that an intramolecularly-catalysed reaction mechanism was involved in AXP maturation. Further evidence supporting the role of autocatalytic processing came from the side-chain specificity of mature AXP towards the oxidized B-chain of insulin. © 1998 John Wiley & Sons, Ltd.
    Additional Material: 5 Ill.
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  • 90
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    A spheroplast rate assay for determination of cell wall integrity in yeast (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 1159-1166 
    Details
    ISSN: 0749-503X
    Keywords: cell walls ; protease ; β-glucanase ; lysis ; yeast ; antifungal drugs ; glucan ; mannoprotein ; S. cerevisiae ; C. albicans ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: The rate of formation of spheroplasts of yeast can be used as an assay to study the structural integrity of cell walls. Lysis can be measured spectrophotometrically in hypotonic solution in the presence of Zymolyase, a mixture of cell wall-digesting enzymes. The optical density of the cell suspension decreases as the cells lyse. We optimized this assay with respect to enzyme concentration, temperature, pH, and growth conditions for several strains of Saccharomyces cerevisiae. The level of variability (standard deviation) was 1-5% between trials where the replications were performed on the same culture using enzyme prepared from the same lot, and 5-15% for different cultures of the same strain. This assay can quantitate differences in cell wall structure (1) between exponentially growing and stationary phase cells, (2) among different S. cerevisiae strains, (3) between S. cerevisiae and Candida albicans, (4) between parental and mutated lines, and (5) between drug- or chemically-treated cells and controls. © 1998 John Wiley & Sons, Ltd.
    Additional Material: 4 Ill.
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  • 91
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    Fluorescent probing of membrane potential in walled cells: diS-C3(3) assay in Saccharomyces cerevisiae (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 1189-1197 
    Details
    ISSN: 0749-503X
    Keywords: carbocyanine fluorescent probes ; membrane potential ; yeast ; cell wall ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Membrane-potential-dependent accumulation of diS-C3(3) in intact yeast cells in suspension is accompanied by a red shift of the maximum of its fluorescence emission spectrum, λmax, caused by a readily reversible probe binding to cell constituents. Membrane depolarization by external KCl (with or without valinomycin) or by ionophores causes a fast and reproducible blue shift. As the potential-reporting parameter, the λmax shift is less affected by probe binding to cuvette walls and possible photobleaching than, for example, fluorescence intensity. The magnitude of the potential-dependent red λmax shift depends on relative cell-to-probe concentration ratio, a maximum shift (572→582 nm) being found in very thick suspensions and in cell lysates. The potential therefore has to be assessed at reasonably low cell (≤5×106 cells/ml) and probe (10-7 M) concentrations at which a clearly defined relationship exists between the λmax shift and the potential-dependent accumulation of the dye in the cells. The redistribution of the probe between the medium and yeast protoplasts takes about 5 min, but in intact cells it takes 10-30 min because the cell wall acts as a barrier, hampering probe penetration into the cells. The barrier properties of the cell wall correlate with its thickness: cells grown in 0·2% glucose (cell wall thickness 0·175±0·015 μm, n=30) are stained much faster and the λmax is more red-shifted than in cells grown in 2% glucose (cell wall thickness 0·260±0·043 μm, n=44). At a suitable cell and probe concentration and under standard conditions, the λmax shift of diS-C3(3) fluorescence provides reliable information on even fast changes in membrane potential in Saccharomyces cerevisiae. © 1998 John Wiley & Sons, Ltd.
    Additional Material: 7 Ill.
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  • 92
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    Stabilization of two families of critical targets for hyperthermic cell killing and acquired thermotolerance of yeast cells (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 1249-1255 
    Details
    ISSN: 0749-503X
    Keywords: critical target model ; differential scanning calorimetry ; Saccharomyces cerevisiae ; heat-shock response ; acquired thermotolerance ; thermal stability ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Hyperthermic cell killing profiles of Saccharomyces cerevisiae cells were biphasic and a shoulder (phase 1) was followed by an exponential killing (phase 2). Assuming that (i) the rate of thermal damage in particular macromolecules or their assemblies limits the rate of hyperthermic cell killing (the critical target model), and (ii) the damages of two families of targets are lethal independently, we built a ‘dual critical target model’ in order to interpret the biphasic cell killing.Time-courses of temperature-programmed fractional survival were traced for S. cerevisiae cells in exponentially growing phase, heat shocked, and in stationary phase. Non-linear curve-fitting of the time-courses by using the dual critial target model provided the Arrhenius parameters of denaturation of the two families of targets. The cells were killed more slowly in phase 1 than in phase 2. Arrest in stationary phase, not heat shock, stabilizes the family of targets that is critical to phase 1 death. On the other hand, both heat-shock response and arrest in stationary phase stabilizes the other family of targets that, in addition to the previous one, is responsible for phase 2 death. © 1998 John Wiley & Sons, Ltd.
    Additional Material: 4 Ill.
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  • 93
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    A history of research on yeasts 1: Work by chemists and biologists 1789-1850 (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 1439-1451 
    Details
    ISSN: 0749-503X
    Keywords: beginnings of yeast research ; yeasts ; history ; Lavoisier ; Cagniard-Latour ; Kutzing ; Schwann ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Additional Material: 6 Ill.
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  • 94
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    Candida rugosa lipases: Molecular biology and versatility in biotechnology (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 1069-1087 
    Details
    ISSN: 0749-503X
    Keywords: amines and amides ; biodetergents ; biocides ; bioremediation ; biosensors ; Candida rugosa ; carbohydrate esters ; cosmetics and perfumery ; food and flavour ; immobilisation ; isoenzymes ; lipases ; molecular biology ; pharmaceuticals ; single cell protein ; specificity ; tanning ; ultra-structure ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: This review describes how the versatile Candida rugosa lipases (CRL) have extended the frontiers of biotechnology. As evidenced by the current literature, CRL claims more applications than any other biocatalyst. This review comprises a detailed discussion on the molecular biology of CRL, its versatile catalytic reactions, broad specificities and diverse immobilization strategies. It also discusses its role in the food and flavour industry, the production of ice cream and single cell protein, biocatalytic resolution of life-saving pharmaceuticals, carbohydrate esters and amino acid derivatives unobtainable by conventional chemical synthesis, potent biocide making, biosensor modulations, eco-friendly approach and bioremediation, biosurfactants in detergent making, and recently, cosmetics and perfumery. © 1998 John Wiley & Sons, Ltd.
    Additional Material: 5 Ill.
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  • 95
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    Transcriptional profiling on all open reading frames of Saccharomyces cerevisiae (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 1209-1221 
    Details
    ISSN: 0749-503X
    Keywords: transcription ; microarrays ; expression profiling ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Open reading frames (6116) of the budding yeast Saccharomyces cerevisiae were PCR-amplified from genomic DNA using 12,232 primers specific to the ends of the coding sequences; the success rate of amplification was 97%. PCR-products were made accessible to hybridization by being arrayed at very high density on solid support media using various robotic devices. Probes made from total RNA preparations were hybridized for the analysis of the transcriptional activity of yeast under various growth conditions and of different strains. Experimental factors that proved critical to the performance, such as different RNA isolation procedures and the assessment of hybridization results, for example, were investigated in detail. Various software tools were developed that permit convenient handling and sound analysis of the large data quantities obtained from transcriptional profiling studies. Comprehensive arrays are being distributed within the European Yeast Functional Analysis Network (EUROFAN) and beyond. © 1998 John Wiley & Sons, Ltd.
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  • 96
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    Cloning and characterization of the Hansenula polymorpha homologue of the Saccharomyces cerevisiae PMR1 gene (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 1233-1240 
    Details
    ISSN: 0749-503X
    Keywords: yeast ; PMR1 ; Hansenula polymorpha ; Ca2+-ATPase ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: A gene homologous to Saccharomyces cerevisiae PMR1 has been cloned in the methylotrophic yeast Hansenula polymorpha. The partial DNA fragment of the H. polymorpha homologue was initially obtained by a polymerase chain reaction and used to isolate the entire gene which encodes a protein of 918 amino acids. The putative gene product contains all ten of the conserved regions observed in P-type ATPases. The cloned gene product exhibits 60·3% amino acid identity to the S. cerevisiae PMR1 gene product and complemented the growth defect of a S. cerevisiae pmr1 null mutant in the EGTA-containing medium. The results demonstrate that the H. polymorpha gene encodes the functional homologue of the S. cerevisiae PMR1 gene product, a P-type Ca2+-ATPase. The DNA sequence of the H. polymorpha homologue has been submitted to GenBank with the Accession Number U92083. © 1998 John Wiley & Sons, Ltd.
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  • 97
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    Cloning of the Candida albicans nucleoside transporter by complementation of nucleoside transport-deficient Saccharomyces (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 1257-1265 
    Details
    ISSN: 0749-503X
    Keywords: Candida albicans ; nucleoside transport ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: The nucleoside permease gene (i.e. NUP) from Candida albicans was cloned by complementation of Saccharomyces cerevisiae deficient in nucleoside transport capability. The permease transported adenosine and guanosine and was sensitive to the mammalian nucleoside transport inhibitors: dipyridamole and NBMPR. It did not transport uridine, cytidine, adenine, guanine or uracil. The inability to transport uridine indicated that the NUP gene product was different from the Candida uridine permease, which also transported cytosine and adenosine. The NUP gene coded for a protein of 407 amino acids in size which was approximately the size of the human, Giardia and E. coli nucleoside permeases. It did not, however, exhibit any significant degree of homology with these transporters. The GenBank accession number for the Candida NUP gene is AF016246. © 1998 John Wiley & Sons, Ltd.
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  • 98
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    Vectors for transcription factor cloning and target site identification by means of genetic selection in yeast (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 1407-1416 
    Details
    ISSN: 0749-503X
    Keywords: transcription factor ; yeast genetic selection ; bacteriophage λ vector ; Cre-loxP automatic plasmid subcloning ; integration vector ; one hybrid ; target genes ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: We describe the construction of a number of vectors that can be used in yeast genetic selection systems for cloning of transcription factors or other DNA-binding proteins and for identification of the target sites recognized by transcription factors. For transcription factor cloning we have designed an integration vector with two HIS3 reporter gene cassettes to stably integrate reporter gene constructs at the non-essential yeast PDC6 locus. This set of plasmids was tested in a one-hybrid assay with the rice transcription factor Oshox1, a member of the class of homeodomain leucine zipper proteins. A hybrid protein of Oshox1 and the Gal4 transcriptional activation domain was shown to specifically activate a reporter gene construct with upstream Oshox1 binding sites, which had been integrated at the PDC6 locus using the described vector system. Target site identification by genetic selection in yeast employs a transcriptional activator construct and a library of genomic or random DNA fragments upstream of a reporter gene. We have constructed two variants of a bacteriophage λ vector which facilitates the construction of the required reporter gene library because of high cloning efficiency and easy conversion into a yeast/Escherichia coli shuttle vector library by Cre-loxP-mediated automatic subcloning. Tests with Oxhox1 as transcriptional activator demonstrated the usefulness of the deprived reporter gene vector. © 1998 John Wiley & Sons, Ltd.
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  • 99
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    Cloning and characterization of an n-alkane-inducible cytochrome P450 gene essential for n-decane assimilation by Yarrowia lipolytica (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 1387-1397 
    Details
    ISSN: 0749-503X
    Keywords: Yarrowia lipolytica ; cytochrome P450 ; n-alkane metabolism ; n-alkane-inducible gene ; RT-PCR ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: A gene encoding cytochrome P450 involved in n-alkane utilization was cloned from an n-alkane assimilating yeast, Yarrowia lipolytica CX161-1B. The RT-PCR was performed on the mRNA prepared from the cells grown on n-alkane as a template using degenerated PCR primers designed for the conserved amino acid sequences of the CYP52 family. The RT-PCR amplified fragment was then used as a probe to isolate genes coding for P450 of the CYP52 family from the genomic DNA library of the strain CX161-1B. The nucleotide sequence of one of the positive clones was determined. An open reading frame which had the same nucleotide sequence as the RT-PCR-amplified fragment was identified. It was of 523 amino acid residues, 60·2 kDa in molecular mass, and had 30-45% sequence identity with the other members of the CYP52 family of Candida species so far analysed. The expression of the P450 gene that was named as YlALK1 was induced by n-tetradecane and repressed by glycerol. A YlALK1 gene disruptant did not grow well on n-decane, but grew on longer-chain n-alkanes such as hexadecane as a sole carbon source. Introduction of YlALK1 on a plasmid to the disruptant restored the decane assimilation. These results suggest that the YlALK1 gene product is the major P450Alk to metabolize short-chain n-alkanes such as decane and dodecane in Y. lipolytica. © 1998 John Wiley & Sons, Ltd.
    Additional Material: 6 Ill.
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  • 100
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    Oxidative stress responses of the yeast Saccharomyces cerevisiae (1998)
    New York, NY [u.a.] : Wiley-Blackwell
    Yeast 14 (1998), S. 1511-1527 
    Details
    ISSN: 0749-503X
    Keywords: Saccharomyces cerevisiae ; oxidative stress ; stress response ; signal transduction ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: All aerobically growing organisms suffer exposure to oxidative stress, caused by partially reduced forms of molecular oxygen, known as reactive oxygen species (ROS). These are highly reactive and capable of damaging cellular constituents such as DNA, lipids and proteins. Consequently, cells from many different organisms have evolved mechanisms to protect their components against ROS. This review concentrates on the oxidant defence systems of the budding yeast Saccharomyces cerevisiae , which appears to have a number of inducible adaptive stress responses to oxidants, such as H2 O2 , superoxide anion and lipid peroxidation products. The oxidative stress responses appear to be regulated, at least in part, at the level of transcription and there is considerable overlap between them and many diverse stress responses, allowing the yeast cell to integrate its response towards environmental stress. © 1998 John Wiley & Sons, Ltd.
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