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Article

Analysis of mutations in exon 1 of the human thyrotropin receptor gene: high frequency of the D36H and P52T polymorphic variants.

Thyroid : official journal of the American Thyroid Association - 1 Jan 1999

Simanainen J, Kinch A, Westermark K, Winsa B, Bengtsson M, Schuppert F, Westermark B, Heldin N E

Abstract excerpt

The aim of the present study was to investigate the N-terminal part (the translated part of exon 1) of the human thyrotropin receptor (TSHR) for the presence of mutations. Patients with Graves' disease (n = 160) and healthy controls (blood donors; n = 140) were screened using single-stranded conformational polymorphism (SSCP) in combination with restriction enzyme digestion for the two previously known mutations...

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Source

Identifiers

PMID: 10037069
DOI: 10.1089/thy.1999.9.7

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

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Click a neighbor to travelStep 1 · 12 closest

Analysis of mutations in exon 1 of the human thyrotropin receptor gene: high frequency of the D36H and P52T polymorphic variants.PMID 10037069Read ↗

Analysis of the genetic variability of the 1st (CCC/ACC, P52T) and the 10th exons (bp 1012-1704) of the TSH receptor gene in Graves' disease.Semantic proximity Read ↗

No association between a thyrotropin receptor gene polymorphism and Graves' disease in the female population.Semantic proximity Read ↗

Functional analysis of a variant of the thyrotropin receptor gene in a family with Graves' disease.Semantic proximity Read ↗

A heritable point mutation in an extracellular domain of the TSH receptor involved in the interaction with Graves' immunoglobulins.Semantic proximity Read ↗

Identification of TSH receptor mutations in three families with resistance to TSH.Semantic proximity Read ↗

[Polymorphism of the 52 triplet gene (nucleotide 253) of the TSH receptor in Basedow-Graves patients and in healthy controls].Semantic proximity Read ↗

Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.Semantic proximity Read ↗

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

Thyroid-stimulating hormone receptor and its role in Graves' disease.Semantic proximity Read ↗

A germline single nucleotide polymorphism at the intracellular domain of the human thyrotropin receptor does not have a major effect on the development of Graves' disease.Semantic proximity Read ↗

The human thyrotropin receptor is highly mutable: a review of gain-of-function mutations.Semantic proximity Read ↗

Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism.Semantic proximity Read ↗

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