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Article

Functional significance of the thyrotropin receptor germline polymorphism D727E.

Biochemical and biophysical research communications - 21 Feb 2003

Sykiotis Gerasimos P, Neumann Susanne, Georgopoulos Neoklis A, Sgourou Argyro, Papachatzopoulou Adamantia, Markou Kostas B, Kyriazopoulou Venetsana, Paschke Ralf, Vagenakis Apostolos G, Papavassiliou Athanasios G

Abstract excerpt

In a toxic thyroid adenoma we identified a novel somatic mutation that constitutively activates the thyrotropin receptor (TSHR). Two heterozygous point mutations at adjacent nucleotides led to a substitution of alanine with asparagine at codon 593 (A593N) in the fifth transmembrane helix of TSHR. This somatic mutation resided on the same TSHR allele with the germline polymorphism D727E. The functional...

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Source

Identifiers

PMID: 12589819
DOI: 10.1016/s0006-291x(03)00071-8

Genes

TSHR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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