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  • 1
    Electronic Resource
    Electronic Resource
    SOLUTION PROPERTIES OF β NERVE GROWTH FACTOR PROTEIN AND SOME OF ITS DERIVATIVES (1975)
    Oxford, UK : Blackwell Publishing Ltd
    Journal of neurochemistry 25 (1975), S. 0 
    Details
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract— The molecular weight of β nerve growth factor protein determined by sedimentation equilibrium in sodium acetate buffer, pH 40, and at protein concentrations around 0-5 mg/ml agrees with the value obtained from the amino acid sequence and confirms the dimeric character of the protein under these conditions. At pH values of 5.0 or greater, β nerve growth factor protein shows either partial dissociation into monomers or aggregation to higher polymers or both phenomena. The extent of dissociation or aggregation depends on buffer type and pH and is most pronounced at alkaline pH. The variation of molecular weight of β nerve growth factor with solvent conditions is similar to that of insulin or proinsulin. Removal of either the two COOH-terminal arginine residues or the two NH2-terminal octapeptide sequences from the protein has no effect on its solution properties at acid pH, the protein remaining a dimer. Species such as 2-5 S nerve growth factor or cyanogen bromide cleaved nerve growth factor which are partically deficient in COOH-terminal arginine residues and/or NH2-octapeptide or nonapeptide sequences are also dimers at pH40. The protein derivative which lacks the two NH2-terminal octapeptide sequence does not, like β-nerve growth factor, display dissociation or aggregation behavior at neutral pH, indicating that these sequences are involved in monomer-monomer interactions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1471-4159.1975.tb12243.x
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  • 2
    Electronic Resource
    Electronic Resource
    Linkage to atopy on chromosome 19 in north-eastern Italian families with allergic asthma (2001)
    Oxford, UK : Blackwell Science, Ltd
    Clinical & experimental allergy 31 (2001), S. 0 
    Details
    ISSN: 1365-2222
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background Allergic asthma is a multifactorial disease for which there is a widely assessed, although poorly understood, genetic involvement. Genome-wide screens reported evidence for linkage of allergic asthma-related phenotypes to several chromosomal locations. Markers on chromosome 19 have been linked to allergic asthma phenotypes in different populations in independent studies.Objective The aim of this study was to perform a genetic linkage analysis on chromosome 19 to search for DNA markers linked to phenotypes related to allergic asthma.Methods Using non-parametric multipoint linkage analysis on a total of 22 random DNA markers in 2 stages, a sample of 111 families (542 subjects) from north-eastern Italy, recruited through an asthmatic allergic proband, was investigated. Phenotypes examined were: clinical asthma, total serum elevated IgE, skin prick test positivity, bronchial hyper-responsiveness, and atopy defined as skin prick test positivity and/or elevated IgE. Simulation studies were performed to confirm the significance of the results.Results A novel linkage of atopy and skin prick test positivity to marker D19S601 (19q13.3) was found. Modest evidence for linkage of atopy, skin prick test positivity, and IgE was also found to marker D19S591 (19p13.3). Simulation analysis for atopy gave an NPL-Z 〉 3.326 in 2 replicates out of 1000 (P = 0.002) for D19S601, and an NPL-Z 〉 2.56 in 16 replicates out of 1000 (P = 0.016) for D19S591.Conclusions On chromosome 19, suggestive linkage of atopy and skin prick test positivity with marker D19S601 (19q13.3) and modest evidence of linkage of marker D19S591 (19p13.3) to the atopic phenotypes investigated were found. These results suggest that these regions may contain susceptibility loci associated to atopic phenotypes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2222.2001.01132.x
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  • 3
    Electronic Resource
    Electronic Resource
    Recurrent simple tandem repeat mutations during human Y-chromosome radiation in Caucasian subpopulations (1995)
    Springer
    Journal of molecular evolution 41 (1995), S. 966-973 
    Details
    ISSN: 1432-1432
    Keywords: Human Y chromosome ; Y polymorphisms ; Human radiation ; Single tandem repeats
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The haplotypes at four polymorphic loci of theY chromosome were determined in 245 Caucasian males from 12 subpopulations. The data show that haplotype radiation occurred among Caucasians. Haplotype radiation was accompanied by recurrent mutations at STR loci that caused partial randomization of haplotype structure. The present distribution of alleles at short tandem repeats (STRs) can be explained by a mutation pattern similar to those described for autosomal STRs. The degree of variation among groups of subpopulations was assayed by using the Analysis of Molecular Variance. The results confirm a faster divergence of the Y chromosome as compared to the rest of the genome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00173177
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  • 4
    Electronic Resource
    Electronic Resource
    Cystic fibrosis: The ΔF508 mutation does not lead to an exceptionally severe phenotype. A cohort study (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 1006-1011 
    Details
    ISSN: 1432-1076
    Keywords: Cystic fibrosis ; 508 Gene mutation ; Genotype ; Phenotype
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In an attenmpt to ascertain a relationship between genotype and phenotype, we studied the pulmonary and nutritional status of 123 cystic fibrosis patients with known genotype at an age of 8.5–10 years. Patients represent a cohort as they are almost all those born and diagnosed in a given area and period. They were followed at a single centre using uniform diagnostic and treatment protocols. Pulmonary and nutritional status of homozygous ΔF508 patients did not differ from that of compound heterozygotes or of patients with other unspecified genotypes. Pulmonary manifestations varied widely in all genotype groups. With the given number of patients, a slightly higher mortality of ΔF508 homozygotes could have been coincidental. We conclude that up to the age of 8.5–10 years the severity of pulmonary lesions and nutritional deficiencies is not related to the
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957227
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  • 5
    Electronic Resource
    Electronic Resource
    Analysis of 14 cystic fibrosis mutations in five South European populations (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 737-738 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have analysed five Southern European populations (Albanian, Greek, Italian, Spanish and Yugoslavian) for 14 cystic fibrosis (CF) mutations. The most frequent mutations, apart from ΔF508, were G542X (6.04%), R1162X (3.61%) and N1303K (3.24%). Each of the other analysed mutations were present at a frequency of less than 1% (R347P, R334W, S549RA, S549I, G551D, R553X and W1282X), and four mutations (D110H, ΔI507, S549RT, and S1255X) were not found in this sample. The data presented here allows the use of mutation analysis in 69.5% of Spanish, 58% of Greek, and 56.5% of Italian CF cases.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201737
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  • 6
    Electronic Resource
    Electronic Resource
    A base substitution at IVS-19 3′-end splice junction causes exon 20 skipping in proα2(I) collagen mRNA and produces mild osteogenesis imperfecta (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 681-687 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Molecular investigations on a young patient and her family were undertaken to identify the molecular defect responsible for a mild form of osteogenesis imperfecta (OI) with blue sclerae, dentinogenesis imperfecta and joint laxity. Analysis of collagenous proteins from the proband's fibroblasts showed the presence of two populations of α2(I) chains, one normal and one migrating faster on SDS gels, thereby suggesting deletion of amino acid sequences. The faster migrating chains were retained mainly in the cell layer and not found in the extracellular matrix deposited by cultured fibroblasts. Chemical cleavage of mismatch (CCM) analysis on the patient's proα2(I) mRNA:normal cDNA heteroduplexes localized the molecular defect. cDNA sequencing revealed a deletion of exon 20 (54 bp) in about half of the molecules. Genomic DNA sequencing revealed heterozygosity for a G-to-C transversion of the last nucleotide of intron 19, which changed the 3′ consensus splicing site. As a consequence proα2(I)mRNA was abnormally spliced from the last codon of exon 19 to the first codon of exon 21. To our knowledge, this is the first acceptor site mutation so far described in an OI patient. Restriction analysis indicated that the mutation was present also in three other affected family members. The full sequence of COL1A2 introns 19 and 20 are reported.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201570
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  • 7
    Electronic Resource
    Electronic Resource
    Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two South European populations (1989)
    Springer
    Human genetics 〈Berlin〉 83 (1989), S. 175-178 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Three polymorphic DNA marker loci (INT1L1, D7S23 and D7S399) map to a chromosomal region that is very close to the cystic fibrosis (CF) locus in terms of genetic distance. These marker loci have been used to analyse the linkage disequilibrium in 137CF families from two South European countries (Italy and Spain). The markers can be analysed for differences in linkage disequilibrium more easily in these populations than in North Europeans, in whom the disequilibrium between the allelic systems defined by the probes and CF is much greater and on a “plateau” through the genetic region. The different levels of disequilibrium found in the studied populations suggest that D7S399 and D7S23 are both closer to CF than INT1L1, and provide additional information on the origins and homogeneity of the CF defect.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00286713
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  • 8
    Electronic Resource
    Electronic Resource
    A tetranucleotide repeat polymorphism in the cystic fibrosis gene (1991)
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 625-625 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We describe a tetranucleotide (GATT) repeat polymorphism in the cystic fibrosis transmembrane conductance regulator gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201556
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  • 9
    Electronic Resource
    Electronic Resource
    Complete detection of mutations in cystic fibrosis patients of Native American origin (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 629-632 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract An increased incidence of cystic fibrosis (CF) has been reported in some populations of Native Americans of the Southwest such as the Pueblo, which is a genetic isolate. As the most common mutation found in Caucasians (ΔF508) was absent and only one chromosome carried the G542X mutation, we decided to analyze the entire coding sequence of the CFTR gene in eight Pueblo CF patients. We have identified four different mutations: G542X, R1162X, 3849+10kbC→T, and D648V that account for these 16 haplotypes. The R1162X was found on 11 chromosomes. Using intragenic microsatellites, we have compared the haplotypes of those chromosomes to those of Italian origin where the R1162X mutation was initially reported. These haplotypes turned out to be identical, suggesting a common origin and an admixture with Italian or Spanish settlers, followed by typical founder effect. In contrast the 3849+10kbC→T mutation, which was found on three chromosomes, is associated with different haplotypes than those on chromosomes carrying the same mutation in Caucasians. A novel mutation, D648V, observed on one chromosome has not been found outside the Pueblo population.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00206956
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