Article
A novel natural mutation in the thyroid hormone receptor defines a dual functional domain that exchanges nuclear receptor corepressors and coactivators.
Molecular endocrinology (Baltimore, Md.) - 1 Dec 1998
Tagami T, Gu W X, Peairs P T, West B L, Jameson J L
Abstract excerpt
In a patient with severe resistance to thyroid hormone (RTH), we found a novel mutation (leucine to serine in codon 454, L454S) of the thyroid hormone receptor beta. This mutation is in the ligand-dependent transactivation domain that has been shown to interact with transcriptional coactivators (CoAs). The mutant protein binds T3, but its ability to activate transcription of a positively regulated gene...
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