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3. Resistance to thyroid hormone caused by two mutant thyroid hormone receptors beta, R243Q and R243W, with marked impairment of function that cannot be explained by altered in vitro 3,5,3'-triiodothyroinine binding affinity. Yagi H; Pohlenz J; Hayashi Y; Sakurai A; Refetoff S J Clin Endocrinol Metab; 1997 May; 82(5):1608-14. PubMed ID: 9141558 [TBL] [Abstract][Full Text] [Related]
4. Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene. Pohlenz J; Weiss RE; Macchia PE; Pannain S; Lau IT; Ho H; Refetoff S J Clin Endocrinol Metab; 1999 Nov; 84(11):3919-28. PubMed ID: 10566629 [TBL] [Abstract][Full Text] [Related]
5. A novel TR beta mutation (R383H) in resistance to thyroid hormone syndrome predominantly impairs corepressor release and negative transcriptional regulation. Clifton-Bligh RJ; de Zegher F; Wagner RL; Collingwood TN; Francois I; Van Helvoirt M; Fletterick RJ; Chatterjee VK Mol Endocrinol; 1998 May; 12(5):609-21. PubMed ID: 9605924 [TBL] [Abstract][Full Text] [Related]
6. The thyroid hormone receptor-beta gene mutation R383H is associated with isolated central resistance to thyroid hormone. Safer JD; O'Connor MG; Colan SD; Srinivasan S; Tollin SR; Wondisford FE J Clin Endocrinol Metab; 1999 Sep; 84(9):3099-109. PubMed ID: 10487671 [TBL] [Abstract][Full Text] [Related]
7. N-terminal variants of thyroid hormone receptor beta: differential function and potential contribution to syndrome of resistance to thyroid hormone. Ng L; Forrest D; Haugen BR; Wood WM; Curran T Mol Endocrinol; 1995 Sep; 9(9):1202-13. PubMed ID: 7491112 [TBL] [Abstract][Full Text] [Related]
8. Functional properties of a mutant T3 receptor beta (R338W) identified in a subject with pituitary resistance to thyroid hormone. Sasaki S; Nakamura H; Tagami T; Miyoshi Y; Nakao K Mol Cell Endocrinol; 1995 Aug; 113(1):109-17. PubMed ID: 8674808 [TBL] [Abstract][Full Text] [Related]
9. A novel mutation (M310L) in the thyroid hormone receptor beta causing resistance to thyroid hormone in a Brazilian kindred and a neonate. Furlanetto TW; Kopp P; Peccin S; Gu WX; Jameson JL Mol Genet Metab; 2000 Nov; 71(3):520-6. PubMed ID: 11073720 [TBL] [Abstract][Full Text] [Related]
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12. Isoform-dependent actions of thyroid hormone nuclear receptors: lessons from knockin mutant mice. Cheng SY Steroids; 2005; 70(5-7):450-4. PubMed ID: 15862829 [TBL] [Abstract][Full Text] [Related]
13. Both thyroid hormone receptor (TR)beta 1 and TR beta 2 isoforms contribute to the regulation of hypothalamic thyrotropin-releasing hormone. Dupré SM; Guissouma H; Flamant F; Seugnet I; Scanlan TS; Baxter JD; Samarut J; Demeneix BA; Becker N Endocrinology; 2004 May; 145(5):2337-45. PubMed ID: 14726446 [TBL] [Abstract][Full Text] [Related]
14. Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor. Weiss RE; Hayashi Y; Nagaya T; Petty KJ; Murata Y; Tunca H; Seo H; Refetoff S J Clin Endocrinol Metab; 1996 Dec; 81(12):4196-203. PubMed ID: 8954015 [TBL] [Abstract][Full Text] [Related]
15. A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. Maraninchi M; Bourcigaux N; Dace A; El-Yazidi C; Malezet-Desmoulins C; Krempf M; Torresani J; Margotat A Exp Clin Endocrinol Diabetes; 2006 Nov; 114(10):569-76. PubMed ID: 17177139 [TBL] [Abstract][Full Text] [Related]
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17. Marked potentiation of the dominant negative action of a mutant thyroid hormone receptor beta in mice by the ablation of one wild-type beta allele. Suzuki H; Zhang XY; Forrest D; Willingham MC; Cheng SY Mol Endocrinol; 2003 May; 17(5):895-907. PubMed ID: 12576488 [TBL] [Abstract][Full Text] [Related]
18. A mechanism for pituitary-resistance to thyroid hormone (PRTH) syndrome: a loss in cooperative coactivator contacts by thyroid hormone receptor (TR)beta2. Lee S; Young BM; Wan W; Chan IH; Privalsky ML Mol Endocrinol; 2011 Jul; 25(7):1111-25. PubMed ID: 21622532 [TBL] [Abstract][Full Text] [Related]
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20. Nuclear corepressors enhance the dominant negative activity of mutant receptors that cause resistance to thyroid hormone. Tagami T; Jameson JL Endocrinology; 1998 Feb; 139(2):640-50. PubMed ID: 9449636 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]