Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genetic variants of insulin receptor substrate-1 (IRS-1) in syndromes of severe insulin resistance. Functional analysis of Ala513Pro and Gly1158Glu IRS-1.

Diabetic medicine : a journal of the British Diabetic Association - 1 Oct 2002

Berger D, Barroso I, Soos M, Yeo G, Schafer A J, O'Rahilly S, Whitehead J P

Abstract excerpt

AIMS: To define further the role of IRS-1 mutations in human syndromes of severe insulin resistance. METHODS: The IRS-1 gene was scanned for mutations in 83 unrelated affected subjects and 47 unaffected individuals using fluorescent single-strand conformation polymorphism (fSSCP) analysis. A novel heterozygous mutation, Gly1158Glu, was found in one affected subject. Four and two subjects were heterozygous for the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to CHO Cells
Share to Cricetinae

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Insulin Receptor Substrate Proteins

Share to Metabolic Syndrome

Share to Phosphatidylinositol 3-Kinases

Share to Phosphoproteins

Share to Polymorphism, Single-Stranded Conformational

Share to Transfection

Source

Identifiers

PMID: 12358865
DOI: 10.1046/j.1464-5491.2002.00779.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic variants of insulin receptor substrate-1 (IRS-1) in syndromes of severe insulin resistance. Functional analysis of Ala513Pro and Gly1158Glu IRS-1.PMID 12358865Read ↗

Insulin receptor substrate-1 variants in non-insulin-dependent diabetes.Semantic proximity Read ↗

Natural variants of human p85 alpha phosphoinositide 3-kinase in severe insulin resistance: a novel variant with impaired insulin-stimulated lipid kinase activity.Semantic proximity Read ↗

Molecular scanning for mutations in the insulin receptor substrate-1 (IRS-1) gene in Mexican Americans with Type 2 diabetes mellitus.Semantic proximity Read ↗

Association testing of common variants in the insulin receptor substrate-1 gene (IRS1) with type 2 diabetes.Semantic proximity Read ↗

Genetics of insulin resistanceSemantic proximity Read ↗

The Gly-->Arg972 amino acid polymorphism in insulin receptor substrate-1 affects glucose metabolism in skeletal muscle cells.Semantic proximity Read ↗

Expression of variant forms of insulin receptor substrate-1 identified in patients with noninsulin-dependent diabetes mellitus.Semantic proximity Read ↗

Polymorphisms of the insulin receptor substrate-2 in patients with type 2 diabetes.Semantic proximity Read ↗

Human insulin receptor substrate-1: variant sequences in familial non-insulin-dependent diabetes mellitus.Semantic proximity Read ↗

Role of allelic variants Gly972Arg of IRS-1 and Gly1057Asp of IRS-2 in moderate-to-severe insulin resistance of women with polycystic ovary syndrome.Semantic proximity Read ↗

Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.Semantic proximity Read ↗

Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.