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

Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling.

Diabetologia - 1 May 2011

Raffan E, Soos M A, Rocha N, Tuthill A, Thomsen A R, Hyden C S, Gregory J W, Hindmarsh P, Dattani M, Cochran E, Al Kaabi J, Gorden P, Barroso I, Morling N, O'Rahilly S, Semple R K

Abstract excerpt

AIMS/HYPOTHESIS: Genetic insulin receptoropathies are a rare cause of severe insulin resistance. We identified the Ile119Met missense mutation in the insulin receptor INSR gene, previously reported in a Yemeni kindred, in four unrelated patients with Somali ancestry. We aimed to investigate a possible genetic founder effect, and to study the mechanism of loss of function of the mutant receptor. METHODS:...

Read the complete abstract on PubMed

Topics

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

Share to Mutagenesis, Site-Directed
Share to Africa

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

Share to Cells, Cultured

Share to Haplotypes

Share to Infant

Share to Insulin Resistance

Share to Protein Precursors

Share to Receptor, Insulin

Source

Open in PubMed Open full text

Identifiers

PMID: 21318406
DOI: 10.1007/s00125-011-2066-z
PMCID: PMC3071941

Genes

INSR

Variants

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling.PMID 21318406Read ↗

Molecular characterization of a novel p.R118C mutation in the insulin receptor gene from patients with severe insulin resistance.Semantic proximity Read ↗

Deep mutational scanning of the human insulin receptor ectodomain to inform precision therapy for insulin resistanceSemantic proximity Read ↗

Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.Semantic proximity Read ↗

A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease.Semantic proximity Read ↗

Glycaemic and bodyweight effects of <i>GIPR</i> coding variation reflect differences in both surface expression and intrinsic functional impairmentSemantic proximity Read ↗

Genotype-phenotype correlation in inherited severe insulin resistance.Semantic proximity Read ↗

GENETICS IN ENDOCRINOLOGY: Genetic forms of severe insulin resistance: what endocrinologists should knowSemantic proximity Read ↗

Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.Semantic proximity Read ↗

Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations.Semantic proximity Read ↗

Functional properties of a heterozygous mutation (Arg1174-->Gln) in the tyrosine kinase domain of the insulin receptor from a type A insulin resistant patient.Semantic proximity Read ↗

Molecular biology of insulin resistance.Semantic proximity Read ↗

Mutant insulin receptors in syndromes of insulin resistance.Semantic proximity Read ↗

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