Article
Embryonic lethal effect of expressing a dominant negative mutant human thyroid hormone receptor alpha1 in mice.
Endocrine journal - 1 Oct 2003
Nishiyama Kozo, Baba Satoshi, Yamada Tomoko, Matsushita Akio, Natsume Hiroko, Nakano Keiko, Sasaki Shigekazu, Nakamura Hirotoshi
Abstract excerpt
Resistance to thyroid hormone (RTH) is caused mainly by mutations of the thyroid hormone receptor (TR) beta gene. Although, in vitro, TRalpha1 and TRbeta1 mutants exhibit similar dominant negative effects against wild-type TR, no TRalpha mutants have ever been identified in RTH patients. It has been postulated that mutations in TRalpha gene may be lethal, compensated completely by intact TRbeta or associated with...
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