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

An activating mutation of the thyrotropin receptor gene in hereditary non-autoimmune hyperthyroidism.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Feb 2002

Lee Yung-Seng, Poh LarryKokSeng, Loke Kah-Yin

Abstract excerpt

The thyroid stimulating hormone (TSH) receptor gene displays a diverse spectrum of activating and inactivating mutations. We report a germline activating mutation M463V of the TSH receptor gene in two siblings with hereditary non-autoimmune hyperthyroidism. The onset of disease in the affected members of the pedigree occurred during childhood or adolescence. The significance of diagnosing activating TSHR...

Read the complete abstract on PubMed

Topics

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

Share to Anxiety
Share to Child, Preschool
Share to Hyperthyroidism

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

Share to Pedigree

Share to Receptors, Thyrotropin

Share to Sequence Analysis, DNA

Share to Tremor

Share to Weight Loss

Source

Identifiers

PMID: 11874187
DOI: 10.1515/jpem.2002.15.2.211

Genes

TSHR

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

An activating mutation of the thyrotropin receptor gene in hereditary non-autoimmune hyperthyroidism.PMID 11874187Read ↗

Severe congenital non-autoimmune hyperthyroidism associated to a mutation in the extracellular domain of thyrotropin receptor gene.Semantic proximity Read ↗

Identification of a New Thyrotropin Receptor Germline Mutation (Leu629Phe) in a Family with Neonatal Onset of Autosomal Dominant Nonautoimmune HyperthyroidismSemantic proximity Read ↗

Similarities and differences in the phenotype of members of an Italian family with hereditary non-autoimmune hyperthyroidism associated with an activating TSH receptor germline mutation.Semantic proximity Read ↗

A Novel TSHR Gene Mutation in a Family with Non-autoimmune Hyperthyroidism.Semantic proximity Read ↗

Genetic defects, thyroid growth and malfunctions of the TSHR in pediatric patients.Semantic proximity Read ↗

Activating mutations of the TSH receptor gene cause thyroid diseases.Semantic proximity Read ↗

A new case of familial nonautoimmune hyperthyroidism caused by the M463V mutation in the TSH receptor with anticipation of the disease across generations: a possible role of iodine supplementation.Semantic proximity Read ↗

Thyrotropin receptor mutations as a tool to understand thyrotropin receptor action.Semantic proximity Read ↗

Germline mutations in the thyrotropin receptor gene cause non–autoimmune autosomal dominant hyperthyroidismSemantic proximity Read ↗

Novel TSHR germline mutation (Met463Val) masquerading as Graves' disease in a large Welsh kindred with hyperthyroidism.Semantic proximity Read ↗

Novel thyrotropin receptor germline mutation (Ile568Val) in a Saxonian family with hereditary nonautoimmune hyperthyroidism.Semantic proximity Read ↗

Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene.Semantic proximity Read ↗

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