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  • 1
    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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    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: 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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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Somatic variation during long term subculturing of plant cells caused by insertion of a transposable element in a phenylalanine ammonia-lyase (PAL) gene (1997)
    Springer
    Molecular genetics and genomics 254 (1997), S. 407-416 
    Details
    ISSN: 1617-4623
    Keywords: Key words Phenylalanine ammonia-lyase  ;  Somatic variation  ;  Tissue culture  ;  Transposon
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract We have identified a new En/Spm-like transposable element, Tdc1, in the 5′ flanking region of a phenylalanine ammonia-lyase gene (gDcPAL1) that is normally induced by transferring cells of carrot suspension cultures to fresh liquid medium (transfer or dilution effect). The initial integration into gDcPAL1 occurred more than 4 years after culture initiation. Tdc1 was first detected in gDcPAL1 genomic clones of a genomic library made from cells of the same cultured cell line 7 years after its initiation and thus following repeated subculturing. Twelve years after initiation, about 5–10% of the cells had Tdc1 inserted into the gDcPAL1 gene, indicating that Tdc1 insertion into gDcPAL1 occurred in one (or more) cell(s) during the first 4–7 years of subculturing. These mutant cells did not disappear during numerous passages; instead the proportion of cells having this Tdc1 inserted into gDcPAL1 has been increasing over the last 5 years. The promoter activity and the inducibility by transfer/dilution of the gDcPAL1 gene harboring Tdc1 is reduced relative to wild type. Finally, we show that insertion of a transposable element is one of the mechanisms that can cause variation of plant cell cultures during repeated subculture.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004380050433
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Mutations in the hepatocyte nuclear factor-1α gene (MODY3) are not a major cause of early-onset non-insulin-dependent (type 2) diabetes mellitus in Japanese (1998)
    Springer
    Journal of human genetics 43 (1998), S. 107-110 
    Details
    ISSN: 1435-232X
    Keywords: Key words Maturity-onset diabetes of the young (MODY) ; Mutation screening ; Direct sequencing
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Maturity-onset diabetes of the young (MODY3), a monogenic subtype of non-insulin-dependent diabetes mellitus (NIDDM) with an early age of onset, is characterized by a primary defect in insulin secretion. Recently, it has been shown that mutations of the gene encoding the transcription factor hepatocyte nuclear factor-1α (HNF-1α) cause MODY3. Since NIDDM in Japanese is characterized by insulin secretory defects due to primary β-cell dysfunction, we screened 60 Japanese nonobese subjects with early-onset NIDDM for mutations in this gene, 45 of whom had a first-degree relative with NIDDM. Direct sequencing of the ten exons and flanking introns of the gene in these subjects identified eight nucleotide substitutions including two amino acid changes, Ile-27-Leu and Ser-487-Asn, the frequencies of which were not significantly different in subjects with early-onset NIDDM and nondiabetic subjects. These results suggest that mutations in the HNF-1α gene are not a major cause of early-onset NIDDM in Japanese.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050049
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    Paper (German National Licenses)
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