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

A mutation in the tyrosine kinase domain of the insulin receptor associated with insulin resistance in an obese woman.

The Journal of clinical endocrinology and metabolism - 1 Oct 1991

Cama A, de la Luz Sierra M, Ottini L, Kadowaki T, Gorden P, Imperato-McGinley J, Taylor S I

Abstract excerpt

Insulin resistance is frequently associated with acanthosis nigricans and hyperandrogenism. In patients with type A insulin resistance, this has been shown to be due to genetic defects in insulin receptor function. However, other patients with a similar clinical syndrome have been reported to have a variant of this syndrome, in which assays of insulin receptor function were normal. We have sequenced a portion of...

Topics

Adult
Exons
Female
Fibroblasts
Humans
Insulin Resistance
Isoleucine
Methionine
Mutation
Obesity
Protein-Tyrosine Kinases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptor, Insulin

Source

Identifiers

PMID: 1890161
DOI: 10.1210/jcem-73-4-894

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1890161-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A mutation in the tyrosine kinase domain of the insulin receptor associated with insulin resistance in an obese woman.PMID 1890161Read ↗

Substitution of isoleucine for methionine at position 1153 in the beta-subunit of the human insulin receptor. A mutation that impairs receptor tyrosine kinase activity, receptor endocytosis, and insulin action.Semantic proximity Read ↗

A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase function and is associated with dominantly inherited insulin resistance.Semantic proximity Read ↗

Mutation in a conserved motif next to the insulin receptor key autophosphorylation sites de-regulates kinase activity and impairs insulin action.Semantic proximity Read ↗

A glycine-1008 to valine mutation in the insulin receptor in a woman with type A insulin resistance.Semantic proximity Read ↗

A mutation (Trp1193-->Leu1193) in the tyrosine kinase domain of the insulin receptor associated with type A syndrome of insulin resistance.Semantic proximity Read ↗

Substitution of glutamic acid for alanine 1135 in the putative "catalytic loop" of the tyrosine kinase domain of the human insulin receptor. A mutation that impairs proteolytic processing into subunits and inhibits receptor tyrosine kinase activity.Semantic proximity Read ↗

Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor.Semantic proximity Read ↗

Decreased phosphorylation of mutant insulin receptor by protein kinase C and protein kinase A.Semantic proximity Read ↗

Detection of mutations in the insulin receptor gene in patients with insulin resistance by analysis of single-stranded conformational polymorphisms.Semantic proximity Read ↗

Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles.Semantic proximity Read ↗

Two naturally occurring mutations in the kinase domain of insulin receptor accelerate degradation of the insulin receptor and impair the kinase activity.Semantic proximity Read ↗

Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients.Semantic proximity Read ↗

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