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Article

The gene for the thyrotropin receptor (TSHR) as a candidate gene for congenital hypothyroidism with thyroid dysgenesis.

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 Jan 1996

Krude H, Biebermann H, Göpel W, Grüters A

Abstract excerpt

According to the central role of the TSH receptor for thyroid function and growth the gene for the TSH receptor is a possible candidate gene for mutations which result in an impairment of thyroid growth and function (Vassart and Dumont 1992). First evidence for the role of TSH receptor defects in the pathogenesis of congenital thyroid disorders was elucidated by the presence of activating germline mutations...

Read the complete abstract on PubMed

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Share to TSHR gene
Share to Hypothyroidism

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

Share to Mutation

Share to Polymorphism, Single-Stranded Conformational

Share to Receptors, Thyrotropin

Share to Thyroid Gland

Source

Identifiers

PMID: 8981017
DOI: 10.1055/s-0029-1211717

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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The gene for the thyrotropin receptor (TSHR) as a candidate gene for congenital hypothyroidism with thyroid dysgenesis.PMID 8981017Read ↗

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A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene.Semantic proximity Read ↗

[Familial congenital hypothyroidism due to loss of function mutation of the thyrotropin receptor (resistance to thyrotropin)].Semantic proximity Read ↗

Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene.Semantic proximity Read ↗

A family with a novel TSH receptor activating germline mutation (p.Ala485Val).Semantic proximity Read ↗

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Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor.Semantic proximity Read ↗

Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR).Semantic proximity Read ↗

An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis.Semantic proximity Read ↗

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