Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.
about
A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parentsA mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindredsHigher-Resolution Structure of the Human Insulin Receptor Ectodomain: Multi-Modal Inclusion of the Insert Domain.CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.Syndromes associated with insulin resistance and acanthosis nigricans.Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue.Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms.Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistanceInsulin resistance due to mutations of the insulin receptor gene: an overview.Severe insulin resistance alters metabolism in mesenchymal progenitor cells.The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.Activation of glucose transport by a natural mutation in the human insulin receptorReceptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coinTwo novel mutations identified in familial cases with Donohue syndromeDomain-dependent effects of insulin and IGF-1 receptors on signalling and gene expression.Effect of alternative glycosylation on insulin receptor processing.Glucagon receptor inhibition normalizes blood glucose in severe insulin-resistant mice.Insulin receptor gene expression and insulin resistance.Molecular aspects of non-insulin-dependent diabetes.Functional properties of a heterozygous mutation (Arg1174-->Gln) in the tyrosine kinase domain of the insulin receptor from a type A insulin resistant patient.Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidenceA novel leprechaunism mutation, Cys807Arg, in an Arab infant: a rare cause of hypoglycaemia.Hyperinsulinemia and Insulin Receptor Gene Mutation in Nonobese Healthy Subjects in Japan.Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation.Major circadian variations of glucose homeostasis in a patient with Rabson-Mendenhall syndrome and primary insulin resistance due to a mutation (Cys284-->Tyr) in the insulin receptor alpha-subunit.
P2860
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P2860
Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.
description
1990 nî lūn-bûn
@nan
1990 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Five mutant alleles of the ins ...... c forms of insulin resistance.
@ast
Five mutant alleles of the ins ...... c forms of insulin resistance.
@en
Five mutant alleles of the ins ...... c forms of insulin resistance.
@nl
type
label
Five mutant alleles of the ins ...... c forms of insulin resistance.
@ast
Five mutant alleles of the ins ...... c forms of insulin resistance.
@en
Five mutant alleles of the ins ...... c forms of insulin resistance.
@nl
prefLabel
Five mutant alleles of the ins ...... c forms of insulin resistance.
@ast
Five mutant alleles of the ins ...... c forms of insulin resistance.
@en
Five mutant alleles of the ins ...... c forms of insulin resistance.
@nl
P2093
P2860
P356
P1476
Five mutant alleles of the ins ...... c forms of insulin resistance.
@en
P2093
Kadowaki H
Kadowaki T
Rechler MM
Serrano-Rios M
P2860
P304
P356
10.1172/JCI114693
P407
P577
1990-07-01T00:00:00Z