PMID: 2510172Nov 1, 1989Paper

Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta

Proceedings of the National Academy of Sciences of the United States of America
A SakuraiL J DeGroot

Abstract

The syndrome of generalized resistance to thyroid hormone is characterized by elevated circulating levels of thyroid hormone in the presence of an overall eumetabolic state and failure to respond normally to triiodothyronine. We have evaluated a family with inherited generalized resistance to thyroid hormone for abnormalities in the thyroid hormone nuclear receptors. A single guanine----cytosine replacement in the codon for amino acid 340 resulted in a glycine----arginine substitution in the hormone-binding domain of one of two alleles of the patient's thyroid hormone nuclear receptor beta gene. In vitro translation products of this mutant human thyroid hormone nuclear receptor beta gene did not bind triiodothyronine. Thus, generalized resistance to thyroid hormone can result from expression of an abnormal thyroid hormone nuclear receptor molecule.

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Citations

Feb 19, 1996·Mutation Research·X K ZhangM O Lee
Nov 16, 1993·Biochimica Et Biophysica Acta·M MisrahiE Milgrom
Jun 18, 1990·Molecular and Cellular Endocrinology·A SakuraiL J DeGroot
Apr 18, 2001·Molecular and Cellular Endocrinology·N MessierM F Langlois
Aug 30, 2003·Trends in Endocrinology and Metabolism : TEM·Paul M Yen
May 23, 1998·Breast Cancer Research and Treatment·J K RicherK B Horwitz
Sep 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·Y YaoitaD D Brown
Oct 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·R A SpanjaardW W Chin
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Jan 1, 1991·Thyroid : Official Journal of the American Thyroid Association·S J Usala
Jan 1, 1994·Thyroid : Official Journal of the American Thyroid Association·S Refetoff
Jan 1, 1994·Thyroid : Official Journal of the American Thyroid Association·J L Jameson
Feb 28, 2008·Thyroid : Official Journal of the American Thyroid Association·Roy E Weiss
Jun 29, 2013·Thyroid : Official Journal of the American Thyroid Association·Cæcilie C LarsenRoy E Weiss
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Sep 5, 2012·The Journal of Clinical Investigation·Gregory A Brent

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