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Article

Identification and functional characterization of two novel activating thyrotropin receptor mutants in toxic thyroid follicular adenomas.

Thyroid : official journal of the American Thyroid Association - 1 Jun 2009

Castro Isabel, Lima Luis, Seoane Rafael, Lado-Abeal Joaquin

Abstract excerpt

BACKGROUND: Two previously unreported thyrotropin (TSH) receptor mutations, A623F and I635V, were identified in toxic follicular thyroid adenoma specimens from two patients with hyperthyroidism. Our aim was to characterize both novel mutants in terms of the following: cAMP basal constitutive activity, cAMP response to TSH, plasma membrane expression levels, and TSH binding properties. METHODS: We performed DNA...

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Source

Identifiers

PMID: 19499991
DOI: 10.1089/thy.2009.0002

Genes

TSHR

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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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