| 1 | CHNG6, GHTR, THRA, THRB
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| Thyroid hormone receptors and resistance to thyroid hormone disorders.
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| Ortiga-Carvalho TM, Sidhaye AR, Wondisford FE.
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| Nat Rev Endocrinol. Oct;10(10):582-91. doi: 10.1038/nrendo.2014.143. Epub 2014 Aug 19 2014
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| 2 | GHTR, THRB
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| Resistance to thyroid hormone is modulated in vivo by the nuclear receptor corepressor (NCOR1).
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| Fozzatti L, Lu C, Kim DW, Park JW, Astapova I, Gavrilova O, Willingham MC, Hollenberg AN, Cheng SY.
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| Proc Natl Acad Sci U S A 108(42):17462-7. Epub 2011 Oct 10.
2011
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| 3 | GHTR, THRB
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| Biochemical characterization of four novel mutations in the thyroid hormone receptor beta gene in patients with resistance to thyroid hormone.
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| Asadi AB, Torjesen PA, Haug E, Berg JP.
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| Scand J Clin Lab Invest 68(7):563-7.PMID: 19378427 2008
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| 4 | GHTR, THRB
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| A Novel Mutation (M310L) in the Thyroid Hormone Receptor beta Causing Resistance to Thyroid Hormone in a Brazilian Kindred and a Neonate.
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| Furlanetto TW, Kopp P, Peccin S, Gu WX, Jameson JL.
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| Mol Genet Metab 71(3):520-526. 2000
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| 5 | GHTR, THRB
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| A novel TRbeta mutation (R383H) in resistance to thyroid hormone syndrome predominantly impairs corepressor release and negative transcriptional regulation.
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| Clifton-Bligh RJ, et al.
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| Mol Endocrinol 12 : 609-621. 1998
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| 6 | GHTR, THRB
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| Detection of a new de novo mutation at codon 251 of exon 8 of thyroid hormone receptor beta gene in an Italian kindred with resistance to thyroid hormone.
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| Macchia E, et al.
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| J Endocrinol Invest 21 : 226-233. 1998
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| 7 | GHTR, THRB
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| A natural transactivation mutation in the thyroid hormone beta receptor : impaired interaction with putative transcriptional mediators.
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| Collingwood TN, et al.
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| Proc Natl Acad Sci U S A 94 : 248-253. 1997
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| 8 | GHTR, THRB
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| A mutant thyroid hormone receptor beta 1 identified in a patient with resistance to thyroid hormone inhibits the activities of not only the wild-type TRs, but also other nuclear receptors.
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| Miyoshi Y, Nakao K.
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| Biochem Biophys Res Commun 238(1):39-43. 1997
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| 9 | GHTR, THRB
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| A novel missense mutation in the thyroid hormone receptor beta gene in akindred with resistance to thyroid hormone.
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| Kijima H, et al.
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| Hum Genet 97 : 407-408. 1996
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| 10 | THRB, GHTR
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| Thyroid hormone receptor beta is essential for development of auditory function.
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| Forrest D, et al.
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| Nat Genet 13 : 354-357. 1996
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| 11 | GHTR, THRB
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| New point mutation (R243W) in the hormone binding domain of the c-erbA beta1 gene in a family with generalized resistance to thyroid hormone.
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| Pohlenz J, et al.
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| Hum Mutat 7 : 79-81. 1996
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| 12 | GHTR
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| Identification of a novel mutation (A268G) in exon 8 of the HTRbeta gene in a large family with thyroid hormone resistance.
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| Jˇzˇquel P, et al.
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| Hum Mutat 8 : 396. 1996
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| 13 | GHTR, THRB
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| Three novel mutations of thyroid hormone receptor beta gene in unrelated patients with resistance to thyroid hormone : two mutations of the same codon (H435L and H435Q) produce separate subtypes of resistance.
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| Tsukaguchi H, et al.
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| J Clin Endocrinol Metab 80 : 3613-3616. 1995
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| 14 | GHTR, THRB
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| Phenotypic variability in patients with generalised resistance to thyroid hormone.
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| Pohlenz J, et al.
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| J Med Genet 32 : 393-395. 1995
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| 15 | THRB, GHTR
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| Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone.
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| Adams M, et al.
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| J Clin Invest 94 : 506-515. 1994
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| 16 | GHTR, THRB
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| Three new mutations of thyroid hormone receptor-beta associated with resistance to thyroid hormone.
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| Bartolone L, et al.
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| J Clin Endocrinol Metab 79 : 323-326. 1994
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| 17 | GHTR, THRB
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| A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone.
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| Weiss RE, et al.
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| J Clin Endocrinol Metab 78 : 1253-1256. 1994
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