Library

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 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
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 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
    BibTip Others were also interested in ...
    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
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...