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  • 1
    Electronic Resource
    Electronic Resource
    No diabetes-associated mutations in the coding region of the hepatocyte nuclear factor-4γ gene (HNF4G) in Japanese patients with MODY (2000)
    Springer
    Diabetologia 43 (2000), S. 1064-1069 
    Details
    ISSN: 1432-0428
    Keywords: Keywords Maturity-onset diabetes of the young ; MODY ; transcription factor ; nuclear receptor ; HNF-4γ ; diabetes mellitus ; insulin ; genetics ; mutation.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Aims/hypothesis. Mutations in the transcription factor hepatocyte nuclear factor (HNF)-4α are the cause of one form of maturity-onset diabetes of the young, MODY1. The HNF-4γ is structurally related to HNF-4α and is expressed together with HNF-4α in pancreatic islets. We therefore tested the hypothesis that genetic variation in the HNF-4γ gene (HNF4G) is associated with MODY in Japanese subjects. Methods. We screened the protein coding region of HNF4G (exons 3–11) for mutations in 57 unrelated Japanese subjects with MODY by amplifying each exon and adjacent intron region using the polymerase chain reaction (PCR) and specific primers and then directly sequencing the PCR products. The frequency of each variant was compared between patients with MODY and a group of non-diabetic subjects. Results. We found ten sequence variants, two of these were located in exons: exon 6, a silent substitution in codon 144, c.432A/G and exon 7, a G-to-A substitution in codon 190 (c.570G/A) resulting in a conservative Met-to-Ile substitution (M/I190) in the putative ligand-binding region of HNF-4γ protein. The remaining eight variants were located in introns. There was no significant difference in the frequency of these polymorphisms between subjects with MODY and non-diabetic control subjects. Conclusion/interpretation. Genetic variation in the coding region of HNF4G is unlikely to be a major cause of MODY in Japanese people. [Diabetologia (2000) 43: 1064–1069]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250051491
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  • 2
    Electronic Resource
    Electronic Resource
    Linkage studies in NIDDM with markers near the sulphonylurea receptor gene (1995)
    Springer
    Diabetologia 38 (1995), S. 1479-1481 
    Details
    ISSN: 1432-0428
    Keywords: Sulphonylurea receptor ; non-insulin-dependent diabetes mellitus ; genetics ; polymorphism ; linkage mapping
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The high affinity receptor for sulphonylureas, expressed on the beta cells of the pancreas, plays a crucial role in the control of insulin secretion. Mutations in the cytoplasmic domain of the sulphonylurea receptor (SUR) gene that disrupt the regulation of insulin secretion have been previously described. In the present study, the potential role of genetic variation in the SUR gene has been investigated in non-insulin-dependent diabetes mellitus (NIDDM) through linkage studies with microsatellite markers tightly linked to the SUR gene. The microsatellite markers were typed in 346 Mexican-American NIDDM affected sib pairs derived from 176 families and an additional 110 ethnically and geographically matched control subjects. No evidence of linkage, based on allele sharing, or association based on allele frequencies in patients and control subjects, for any microsatellite marker and NIDDM was observed in this population. These results suggest that genetic variation in the SUR gene does not play a major role in susceptibility to NIDDM in the Mexican-American population.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00400610
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  • 3
    Electronic Resource
    Electronic Resource
    Searching for NIDDM susceptibility genes: studies of genes with triplet repeats expressed in skeletal muscle (1996)
    Springer
    Diabetologia 39 (1996), S. 725-730 
    Details
    ISSN: 1432-0428
    Keywords: Diabetes mellitus ; insulin resistance ; genetics ; linkage analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The expansion of trinucleotide repeats has been associated with late-onset neurodegenerative disorders. Although the genes harbouring the triplet expansions may be widely expressed, the pathological expression of these diseases is restricted to specific tissues. Non-insulin-dependent diabetes mellitus (NIDDM) shares several features with diseases resulting from such dynamic mutations including late-onset and specific but limited sites of tissue pathology — muscle, fat, liver and insulin-secreting pancreatic beta cells. In order to examine the contribution of genes containing polymorphic CAG/CTG repeats to the development of NIDDM, we screened an adult human skeletal muscle cDNA library for expressed sequences containing tandem repeats of CAG and/or CTG. Ten different loci with polymorphic CAG/CTG repeats were identified, of which seven had a heterozygosity greater than 0.20. There was no evidence for linkage between these seven loci and NIDDM in a group of affected Mexican-American sib pairs. Nor was there a significant difference in the distribution of alleles between Caucasian patients with NIDDM and normal healthy control subjects or evidence for repeat expansion in diabetic subjects. Thus, muscle genes with polymorphic CAG/CTG repeats do not appear to play a significant role in the development of NIDDM.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00418545
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  • 4
    Electronic Resource
    Electronic Resource
    Searching for NIDDM susceptibility genes: studies of genes with triplet repeats expressed in skeletal muscle (1996)
    Springer
    Diabetologia 39 (1996), S. 725-730 
    Details
    ISSN: 1432-0428
    Keywords: Keywords Diabetes mellitus ; insulin resistance ; genetics ; linkage analysis.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The expansion of trinucleotide repeats has been associated with late-onset neurodegenerative disorders. Although the genes harbouring the triplet expansions may be widely expressed, the pathological expression of these diseases is restricted to specific tissues. Non-insulin-dependent diabetes mellitus (NIDDM) shares several features with diseases resulting from such dynamic mutations including late-onset and specific but limited sites of tissue pathology – muscle, fat, liver and insulin-secreting pancreatic beta cells. In order to examine the contribution of genes containing polymorphic CAG/CTG repeats to the development of NIDDM, we screened an adult human skeletal muscle cDNA library for expressed sequences containing tandem repeats of CAG and/or CTG. Ten different loci with polymorphic CAG/CTG repeats were identified, of which seven had a heterozygosity greater than 0.20. There was no evidence for linkage between these seven loci and NIDDM in a group of affected Mexican-American sib pairs. Nor was there a significant difference in the distribution of alleles between Caucasian patients with NIDDM and normal healthy control subjects or evidence for repeat expansion in diabetic subjects. Thus, muscle genes with polymorphic CAG/CTG repeats do not appear to play a significant role in the development of NIDDM. [Diabetologia (1996) 39: 725–730]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250050501
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  • 5
    Electronic Resource
    Electronic Resource
    Global Epidemiology of Influenza: Past and Present (2000)
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Medicine 51 (2000), S. 407-421 
    Details
    ISSN: 0066-4219
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Medicine
    Notes: Abstract Pandemics are the most dramatic presentation of influenza. Three have occurred in the twentieth century: the 1918 H1N1 pandemic, the 1957 H2N2 pandemic, and the 1968 H3N2 pandemic. The tools of molecular epidemiology have been applied in an attempt to determine the origin of pandemic viruses and to understand what made them such successful pathogens. An excellent example of this avenue of research is the recent phylogenetic analysis of genes of the virus that caused the devastating 1918 pandemic. This analysis has been used to identify evolutionarily related influenza virus genes as a clue to the source of the pandemic of 1918. Molecular methods have been used to investigate the avian H5N1 and H9N2 influenza viruses that recently infected humans in Hong Kong. Antigenic, genetic, and epidemiologic analyses have also furthered our understanding of interpandemic influenza. Although many questions remain, advances of the past two decades have demonstrated that several widely held concepts concerning the global epidemiology of influenza were false.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1146/annurev.med.51.1.407
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  • 6
    Electronic Resource
    Electronic Resource
    Structural Basis of Immune Recognition of Influenza Virus Hemagglutinin (1990)
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Immunology 8 (1990), S. 737-787 
    Details
    ISSN: 0732-0582
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1146/annurev.iy.08.040190.003513
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  • 7
    Electronic Resource
    Electronic Resource
    Linkage studies of maturity onset diabetes of the young — R. W. pedigree (1988)
    Springer
    Diabetologia 31 (1988), S. 778-778 
    Details
    ISSN: 1432-0428
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00274785
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  • 8
    Electronic Resource
    Electronic Resource
    Successful treatment of pulmonary Pseudallescheriasis with itraconazole (1993)
    Springer
    European journal of clinical microbiology & infectious diseases 12 (1993), S. 142-142 
    Details
    ISSN: 1435-4373
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01967593
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  • 9
    Electronic Resource
    Electronic Resource
    Oral terbinafine for treatment of pulmonaryPseudallescheria boydii infection refractory to itraconazole therapy (1997)
    Springer
    European journal of clinical microbiology & infectious diseases 16 (1997), S. 26-28 
    Details
    ISSN: 1435-4373
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01575117
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