[Pathogenesis of disorder due to thyroid hormone receptor mutation].

Abstract excerpt

Thyroid hormone action is mediated through its nuclear receptor (thyroid hormone receptor; TR). A mutation in the TR causes resistance to thyroid hormone (RTH) with autosomal dominant inheritance. Using T3 binding assay, gel shift assay and transfection study, the pathogenesis of this disorder was elucidated at a molecular level. Mutant TRs lose their T3 binding activity, and inhibit wild type TR action in a...

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