1992
DOI: 10.1016/0898-6568(92)90030-c
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Insulin receptor gene mutation: A molecular genetical and funtional analysis

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Cited by 19 publications
(11 citation statements)
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“…Mutations associated with NIDDM have been identified in the insulin [2], insulin receptor [3,4], glucokinase [5][6][7] and mitochondrial genes [8,9]. This suggests that direct screening of other candidate Received: 6 June 1994 and in revised form: 15 August 1994 Corresponding author: Dr. H. Makino, Second Department of Internal Medicine, Chiba University School of Medicine, 1-8-1 Inohana Chuo-ku, Chiba 260, Japan Abbreviations: NIDDM, Non-insulin-dependent diabetes mellitus; GLUT2, glucose transporter 2; IRS1, insulin receptor substrate-1; SSCR single-stranded conformation polymorphism; PCR, polymerase chain reaction; Thr, threonine; Phe, phenylalanine; Ala, alanine; Ser, serine; Ile, isoleucine; Val, valine; Gly, glycine.…”
mentioning
confidence: 99%
“…Mutations associated with NIDDM have been identified in the insulin [2], insulin receptor [3,4], glucokinase [5][6][7] and mitochondrial genes [8,9]. This suggests that direct screening of other candidate Received: 6 June 1994 and in revised form: 15 August 1994 Corresponding author: Dr. H. Makino, Second Department of Internal Medicine, Chiba University School of Medicine, 1-8-1 Inohana Chuo-ku, Chiba 260, Japan Abbreviations: NIDDM, Non-insulin-dependent diabetes mellitus; GLUT2, glucose transporter 2; IRS1, insulin receptor substrate-1; SSCR single-stranded conformation polymorphism; PCR, polymerase chain reaction; Thr, threonine; Phe, phenylalanine; Ala, alanine; Ser, serine; Ile, isoleucine; Val, valine; Gly, glycine.…”
mentioning
confidence: 99%
“…PTPases thus worsen insulin resistance by weakening insulin action [1] and play an important role in the pathogenesis of insulin resistance in diabetes [2,3] . We have shown that patients with an insulin receptor gene mutation have a severely insulin-resistant state [4 -7] , and fi broblasts from these patients provide an in vitro model of insulin resistance [8] . Here, we examined regulation of PTPase in fi broblasts from these patients to study the role of PTPase in insulin resistance.…”
Section: Protein Tyrosine Phosphatase Regulation In Fibroblasts From mentioning
confidence: 99%
“…It is characterized by marked intrauterine and postnatal growth retardation, dysmorphic facial features, hyperinsulinaemia, and altered glucose homeostasis (Donohue and Uchida, 1954). This syndrome is transmitted as an autosomal recessive trait and is associated with mutations in both alleles of the insulin receptor (IR) gene (Makino et al, 1992;Taylor, 1992). It is a rare disorder, the prevalence of mutant IR alleles being estimated as 1/2000 genes in the gene pool (Taylor et al, 1990).…”
Section: Introductionmentioning
confidence: 99%
“…Patients with homozygotes in the case of consanguineous kindreds, or compound heterozygotes if there was no inbreeding. In some patients, only one mutant IR allele was identified but indirect evidence suggested that there was a cis-acting mutation in the other allele (Makino et al, 1992;Taylor, 1992).…”
Section: Introductionmentioning
confidence: 99%