Article
Variable transcriptional activity and ligand binding of mutant beta 1 3,5,3'-triiodothyronine receptors from four families with generalized resistance to thyroid hormone.
Molecular endocrinology (Baltimore, Md.) - 1 Feb 1992
Meier C A, Dickstein B M, Ashizawa K, McClaskey J H, Muchmore P, Ransom S C, Menke J B, Hao E H, Usala S J, Bercu B B
Abstract excerpt
Mutations in the gene encoding the human beta 1 T3 receptor (hTR beta 1) have been associated with generalized resistance to thyroid hormone (GRTH). We measured the T3-binding affinity and transcriptional regulatory capacity of the mutant hTR beta 1 from four unrelated kindreds with GRTH. These mutations are contained in different functional regions of the ligand-binding domain. The T3 affinity of the mutant...
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