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Article

Thyrotropin receptor mutations as a tool to understand thyrotropin receptor action.

Journal of molecular medicine (Berlin, Germany) - 1 Dec 2001

Wonerow P, Neumann S, Gudermann T, Paschke R

Abstract excerpt

A large number of mutations have been identified in the thyrotropin (TSH) receptor (TSHR) gene causing human diseases. Toxic thyroid nodules are frequently associated with somatic constitutively activating TSHR mutations. Autosomal dominant non-autoimmune hyperthyroidism is caused by activating TSHR germline mutations. Inactivating germline mutations cause TSH unresponsiveness. Discovery of the different TSHR...

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

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Source

Identifiers

PMID: 11862314
DOI: 10.1007/s001090100279

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.

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

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