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  • 1
    Electronic Resource
    Electronic Resource
    Mutation in the mitochondrial tRNAleu at position 3243 and spontaneous abortions in Japanese women attending a clinic for diabetic pregnancies (1995)
    Springer
    Diabetologia 38 (1995), S. 809-815 
    Details
    ISSN: 1432-0428
    Keywords: Key words Mitochondrial DNA mutation ; insulin-dependent diabetes mellitus ; non-insulin-dependent diabetes mellitus ; gestational diabetes mellitus.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Mitochondrial DNA is exclusively maternally inherited. We recently found the prevalence of diabetic patients with an A to G transition at position 3243 of leucine tRNA (3243 base pair (bp) mutation) to be nearly 1 % in randomly selected Japanese subjects. Here, we report the higher prevalence of diabetic patients with the 3243 bp mutation in a specific Japanese population of women attending a diabetic pregnancy clinic. Of 102 patients with non-insulin-dependent diabetes mellitus 6 (5.9 %) were positive for the mutation, 1 (8.3 %) of 12 patients with gestational diabetes and 2 (5.9 %) out of 34 borderline diabetic patients. In contrast, none of 64 patients (0 %) with insulin-dependent diabetes mellitus had the 3243 bp mutation. Moreover, there was a difference in the prevalence of spontaneous abortions between patients with and without this mutation (27.3 vs 12.4 %). Among nine probands with the mutation, four had a history of one spontaneous abortion (p = 0.0518) and two had a history of two abortions (p = 0.0479). Two probands had a spontaneous abortion even while under strict diabetic metabolic control. The 3243 bp mutation thus may cause spontaneous abortion during pregnancy. [Diabetologia (1995) 38: 809–815]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250050357
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  • 2
    Electronic Resource
    Electronic Resource
    Identification of four trp 1 gene variants murine pancreatic beta-cells (1997)
    Springer
    Diabetologia 40 (1997), S. 528-532 
    Details
    ISSN: 1432-0428
    Keywords: Keywordstrp1 ; Ca-release activated channel ; pancreatic beta cell ; MIN6 cell ; insulin secretion.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Insulin secretion is stimulated by glucose, hormones and neurotransmitters. Both activation of a non-selective cation current and activation of a Ca2 + current in response to depletion of intracellular Ca2 + stores have been suggested to play a role in this stimulation. The properties of these currents resemble those reported for the Drosophila genes trp and trpl. Using the reverse transcription polymerase chain reaction and Northern blot analysis we found that of the six mammalian trp-related genes (trp1–6), only trp1 was expressed at high levels in the mouse insulinoma cell line MIN6. We cloned the murine homologue of human trp1 from MIN6 cells and identified four variants (α, β, γ and δ), generated by alternative splicing near the N-terminus of the protein. In vitro translation showed that only the α and β splice variants are efficiently expressed. The β variant is the dominant form in MIN6 cells (and probably in mouse pancreatic islets), whereas the α variant is the major type in the mouse brain. The β variant showed 99 % identity to the human homologue at the amino acid level. [Diabetologia (1997) 40: 528–532]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250050711
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Glucose modulation of ATP-sensitive K-currents in wild-type, homozygous and heterozygous glucokinase knock-out mice (1998)
    Springer
    Diabetologia 41 (1998), S. 654-659 
    Details
    ISSN: 1432-0428
    Keywords: Keywords ATP-sensitive K-current ; glucokinase ; beta cell ; insulin secretion ; MODY.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary One type of maturity-onset diabetes of the young (MODY2) is caused by mutations in the glucokinase gene, a key glycolytic enzyme in the beta cell and liver. Glucose fails to stimulate insulin secretion in mice in which the glucokinase gene has been selectively knocked out in the beta cell. We tested the hypothesis that this effect results from defective metabolic regulation of beta cell ATP-sensitive potassium (KATP) channels. Glucose had little effect on KATP currents in homozygous (-/-) mice but inhibited KATP currents in wild-type (+/+) and heterozygous ( + /-) mice with EC50 of 3.2 mM and 5.5 mM, respectively, in newborn animals, and of 4.7 mM and 9.9 mM, respectively, in 1.5-year-old mice. Glucose (20 mmol/l) did not affect the resting membrane potential of -/- beta cells but depolarised wild-type and + /- beta cells and induced electrical activity. In contrast, 20 mmol/l ketoisocaproic acid or 0.5 mmol/l tolbutamide depolarised all three types of beta-cell. These results support the idea that defective glycolytic metabolism, produced by a loss (-/- mice) or reduction ( + /- mice) of glucokinase activity, leads to defective KATP channel regulation and thereby to the selective loss, or reduction, of glucose-induced insulin secretion. [Diabetologia (1998) 41: 654–659]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250050964
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  • 4
    Electronic Resource
    Electronic Resource
    Detection of mutations in the insulin receptor gene in patients with insulin resistance by analysis of single-stranded conformational polymorphisms (1992)
    Springer
    Diabetologia 35 (1992), S. 261-266 
    Details
    ISSN: 1432-0428
    Keywords: Hyperinsulinaemia ; tyrosine kinase activity ; Type 2 (non-insulin-dependent) diabetes mellitus ; obesity ; screening
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We analyzed single-stranded conformational poly morphisms to screen for mutations and polymorphisms in the insulin receptor gene in subjects with or without insulin resistance. Using this new technique, we demonstrated the existence of mutations in the insulin receptor gene which we had identified previously. In addition, a new mutation was found in exon 20 of the insulin receptor gene in a patient with moderate insulin resistance associated with morbid obesity, acanthosis nigricans, and polycystic ovary syndrome. The patient was heterozygous for a mutation substituting Leu (CTG) for Pro (CCG) at codon 1178. Pro1178 is a part of a characteristic sequence motif (D1150 F1151 G1152-A1177 P1178 E1179) common to many protein kinases. Analysis of single-stranded conformational polymorphisms was also used to estimate the frequency of a polymorphism at codon 1058. The two codons CAC (1058 His) and CAT (1058 His) both had a prevalence of 50% in 30 Japanese subjects. These data demonstrate that analysis of single-stranded conformational polymorphisms is a simple and sensitive screening method for mutations and polymorphisms in the insulin receptor gene in subjects with or without insulin resistance. Identification of a mutation in the insulin receptor gene in a patient with a moderate degree of insulin resistance associated with morbid obesity suggests that insulin receptor mutations may exist in patients with Type 2 (non-insulin-dependent) diabetes mellitus associated with a moderate degree of insulin resistance.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00400927
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    Paper (German National Licenses)
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