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8. A novel point mutation (R243Q) in exon 7 of the c-erbA beta thyroid hormone receptor gene in a family with resistance to thyroid hormone. Onigata K, Yagi H, Sakurai A, Nagashima T, Nomura Y, Nagashima K, Hashizume K, Morikawa A. Thyroid; 1995 Oct; 5(5):355-8. PubMed ID: 8563471 [Abstract] [Full Text] [Related]
9. Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors? Hayashi Y, Weiss RE, Sarne DH, Yen PM, Sunthornthepvarakul T, Marcocci C, Chin WW, Refetoff S. J Clin Endocrinol Metab; 1995 Nov; 80(11):3246-56. PubMed ID: 7593433 [Abstract] [Full Text] [Related]
10. 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 [Abstract] [Full Text] [Related]
11. 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 [Abstract] [Full Text] [Related]
18. A novel resistance to thyroid hormone associated with a new mutation (T329N) in the thyroid hormone receptor beta gene. Sarkissian G, Dace A, Mesmacque A, Bony-Trifunovic H, Malezet-Desmoulins C, Torresani J, Margotat A. Thyroid; 1999 Feb; 9(2):165-71. PubMed ID: 10090317 [Abstract] [Full Text] [Related]
19. 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 [Abstract] [Full Text] [Related]