Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance.
about
A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parentsPrevalence, predisposition and prevention of type II diabetes.The genetic basis of female reproductive disorders: etiology and clinical testingSequencing analysis of insulin receptor defects and detection of two novel mutations in INSR geneHigher-Resolution Structure of the Human Insulin Receptor Ectodomain: Multi-Modal Inclusion of the Insert Domain.14-3-3 proteins interact with the insulin-like growth factor receptor but not the insulin receptor.A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes.Protein-protein interaction in insulin signaling and the molecular mechanisms of insulin resistanceSyndromes associated with insulin resistance and acanthosis nigricans.Reduced expression of the liver/beta-cell glucose transporter isoform in glucose-insensitive pancreatic beta cells of diabetic ratsStructure of the human insulin receptor gene and characterization of its promoter.The genetics of type 2 diabetes.Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.Epidermal growth factor receptor defects in leprechaunism. A multiple growth factor-resistant syndromeGenetic disorders of human growth.Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recyclingImproved glucose metabolism in vitro and in vivo by an allosteric monoclonal antibody that increases insulin receptor binding affinityInsulin resistance due to mutations of the insulin receptor gene: an overview.Insulin receptor function in fibroblasts from patients with leprechaunism. Differential alterations in binding, autophosphorylation, kinase activity, and receptor-mediated internalization.Severe insulin resistance alters metabolism in mesenchymal progenitor cells.Mutant insulin receptors in syndromes of insulin resistance.Activation of glucose transport by a natural mutation in the human insulin receptorLRP6 enhances glucose metabolism by promoting TCF7L2-dependent insulin receptor expression and IGF receptor stabilization in humans.Molecular genetics of severe insulin resistanceBiosynthesis and regulation of the insulin receptor.The role of insulin receptor signaling in zebrafish embryogenesisTargeted inactivation of the insulin receptor gene in mouse 3T3-L1 fibroblasts via homologous recombination.Altered expression of insulin receptor types A and B in the skeletal muscle of non-insulin-dependent diabetes mellitus patients.Mouse platelet-derived growth factor receptor alpha gene is deleted in W19H and patch mutations on chromosome 5.Caenorhabditis elegans DAF-2 as a Model for Human Insulin Receptoropathies.A region of the insulin receptor important for ligand binding (residues 450-601) is recognized by patients' autoimmune antibodies and inhibitory monoclonal antibodies.Investigation of the mechanism of the dominant negative effect of mutations in the tyrosine kinase domain of the insulin receptor.A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction.Mechanistic insights into insulin resistance in the genetic era.Glucagon receptor inhibition normalizes blood glucose in severe insulin-resistant mice.Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation.The insulin receptor and the molecular mechanism of insulin action.Two aberrant splicings caused by mutations in the insulin receptor gene in cultured lymphocytes from a patient with Rabson-Mendenhall's syndrome.Molecular aspects of non-insulin-dependent diabetes.Disruption of estrogen-regulated gene expression by dioxin: downregulation of a gene associated with the onset of non-insulin-dependent diabetes mellitus (type 2 diabetes).
P2860
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P2860
Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance.
description
1988 nî lūn-bûn
@nan
1988年の論文
@ja
1988年学术文章
@wuu
1988年学术文章
@zh-cn
1988年学术文章
@zh-hans
1988年学术文章
@zh-my
1988年学术文章
@zh-sg
1988年學術文章
@yue
1988年學術文章
@zh
1988年學術文章
@zh-hant
name
Two mutant alleles of the insu ...... th extreme insulin resistance.
@en
Two mutant alleles of the insu ...... th extreme insulin resistance.
@nl
type
label
Two mutant alleles of the insu ...... th extreme insulin resistance.
@en
Two mutant alleles of the insu ...... th extreme insulin resistance.
@nl
prefLabel
Two mutant alleles of the insu ...... th extreme insulin resistance.
@en
Two mutant alleles of the insu ...... th extreme insulin resistance.
@nl
P2093
P356
P1433
P1476
Two mutant alleles of the insu ...... th extreme insulin resistance.
@en
P2093
Kadowaki H
Kadowaki T
Marcus-Samuels B
P304
P356
10.1126/SCIENCE.2834824
P407
P577
1988-05-01T00:00:00Z