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  • 1
    Electronic Resource
    Electronic Resource
    Identification of missense mutations in the hepatocyte nuclear factor-3β gene in Japanese subjects with late-onset Type II diabetes mellitus (2000)
    Springer
    Diabetologia 43 (2000), S. 1197-1200 
    Details
    ISSN: 1432-0428
    Keywords: Keywords Keywords. HNF-3β ; HNF-1α ; mutation ; genetics.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Aims/hypothesis. Hepatocyte nuclear factor (HNF)-3β, a transcription factor expressed in pancreatic beta cells, is an upstream regulator of HNF-1α/MODY3, HNF-4α/MODY1 and IPF1/MODY5 genes. Our previous screening of MODY subjects showed that mutations in the HNF-3 β gene are not a common cause of this form of diabetes in the Japanese. We tested the hypothesis that mutations in the HNF-3 β gene cause late-onset Type II (non-insulin-dependent) diabetes mellitus in this population. Methods. Genotyping of the polymorphic TCC repeat in the HNF-3 β gene was done in 112 Japanese subjects with Type II diabetes (age at diagnosis 〉 35 and family history of Type II diabetes among their second-degree relatives) and 96 Japanese control subjects. Furthermore, we screened 57 Type II diabetic patients for mutations of the HNF-3 β gene. Transactivation activity of variant HNF-3β was investigated by transfection assay. Results. The distribution of alleles of the TCC repeat was similar between diabetic and control groups. Mutation screening identified two missense mutations, A86T and G114E. Neither mutation was observed in 225 control subjects. The transactivation activity of G114E-HNF-3β was similar to that of wild type-HNF-3β. In contrast, the activity of A86T-HNF-3β was statistically significantly reduced to 83–86 % of that of wild type. Conclusions/Interpretation. The A86T mutation in the HNF-3 β gene might be involved in the development of late-onset Type II diabetes in a small group of Japanese people. [Diabetologia (2000) 43: 1197–1200]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250051512
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    Paper (German National Licenses)
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  • 2
    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
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 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: 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
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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