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Article

Two Novel Cases of Resistance to Thyroid Hormone Due to THRA Mutation.

Thyroid : official journal of the American Thyroid Association - 1 Aug 2020

le Maire Albane, Bouhours-Nouet Natacha, Soamalala Jessica, Mirebeau-Prunier Delphine, Paloni Matteo, Guee Laura, Heron Delphine, Mignot Cyril, Illouz Frédéric, Joubert Florence, Briet Claire, Rodien Patrice, Bourguet William, Flamant Frédéric, Guyot Romain

Abstract excerpt

Resistance to thyroid hormone alpha (RTHα) is a rare and under-recognized genetic disease caused by mutations of THRA, the gene encoding thyroid hormone receptor α1 (TRα1). We report here two novel THRA missense mutations (M259T, T273A) in patients with RTHα. We combined biochemical and cellular assays with in silico modeling to assess the capacity of mutant TRα1 to bind triiodothyronine (T3), to heterodimerize...

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Identifiers

PMID: 32204686
DOI: 10.1089/thy.2019.0602

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