1991 Thyroid hormone resistance syndrome. Inhibition of normal receptor function by mutant thyroid hormone receptors. J Clin Invest. 87:1977-1984.Chatterjee VK, et al. Thyroid hormone resistance syndrome. Inhibition of normal receptor function by mutant thyroid hormone receptors. J. Clin. Invest. ...
Resistance to thyroid hormone syndrome (RTH) is an autosomal dominant or recessive genetic disease caused by mutation of either the thyroid hormone receptorβ (THR-β) gene or the thyroid hormone receptorα (THR-α) gene. RTH due to mutations of the THR-β gene (hereafter, RTH-β) is char...
Mutations in thyroid hormone receptor α1 (TRα1) cause Resistance to Thyroid Hormone α (RTHα), a disorder characterized by hypothyroidism in TRα1-expressing tissues including the heart. Surprisingly, we report that treatment of RTHα patients with th
1.Study on TRβ gene mutation in a thyroid hormone resistance syndrome family;甲状腺激素抵抗综合征一家系TRβ基因突变研究 2.Research a case of pituitary thyroid hormone resistance syndrome whose TRβexons\' gene mutation were not found.研究一例未发现TRβ(thyroid hormone receptorβ,TRβ)外显子基...
Thyroid hormone receptors and resistance to thyroid hormone disorders Nat Rev Endocrinol, 10 (2014), pp. 582-591 CrossrefView in ScopusGoogle Scholar 10 P. Beck-Peccoz, V.K. Chatterjee The variable clinical phenotype in thyroid hormone resistance syndrome Thyroid, 4 (1994), pp. 225-232 Cross...
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Resistance to thyroid hormone induced tachycardia in RTHalpha syndrome. Nat. Commun. 14, 3312 (2023). Article CAS PubMed PubMed Central Google Scholar Singh, B. K. & Yen, P. M. A clinician’s guide to understanding resistance to thyroid hormone due to receptor mutations in the TRalpha ...
Research a case of pituitary thyroid hormone resistance syndrome whose TRβexons\' gene mutation were not found. 研究一例未发现TRβ(thyroid hormone receptorβ,TRβ)外显子基因突变的选择性垂体甲状腺激素抵抗综合征(pituitary thyroid hormone resistance syndrome,PRTH)患者及其家系情况。 更多例句>> 4...
AR常将导致雄激素的作用障碍而表现为雄激素不敏感综合征(Androgen Insensitivity Syndrome,AIS),临床表现范围极广,可从发育良好的女性表型到发育良好的男性表型,仅有不育。 更多例句>> 4) Thyroid hormone resistance syndrome 甲状腺激素抵抗综合征 1. Thyroid hormone resistance syndromecaused by V458A mutation in ...
S. Refetoff, "The syndrome of generalized resistance to thyroid hormone (GRTH)," Endocrine Research, vol. 15, no. 4, pp. 717- 743, 1989.Refetoff S. The syndrome of generalized resistance to thyroid hormone (GRTH). Endocr Res. 1989;15(4): 717-43....