Refetoff S - Search Results

1

Transplantable human thyroid organoids generated from embryonic stem cells to rescue hypothyroidism.

Romitti M, Tourneur A, de Faria da Fonseca B, Doumont G, Gillotay P, Liao XH, Eski SE, Van Simaeys G, Chomette L, Lasolle H, Monestier O, Kasprzyk DF, Detours V, Singh SP, Goldman S, Refetoff S, Costagliola S. Romitti M, et al. Among authors: refetoff s. Nat Commun. 2022 Nov 17;13(1):7057. doi: 10.1038/s41467-022-34776-7. Nat Commun. 2022. PMID: 36396935 Free PMC article.

2

Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor.

Moeller LC, Kimura S, Kusakabe T, Liao XH, Van Sande J, Refetoff S. Moeller LC, et al. Among authors: refetoff s. Mol Endocrinol. 2003 Nov;17(11):2295-302. doi: 10.1210/me.2003-0175. Epub 2003 Aug 7. Mol Endocrinol. 2003. PMID: 12907760

3

A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.

Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S. Dumitrescu AM, et al. Among authors: refetoff s. Am J Hum Genet. 2004 Jan;74(1):168-75. doi: 10.1086/380999. Epub 2003 Dec 5. Am J Hum Genet. 2004. PMID: 14661163 Free PMC article.

4

Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter.

Bereket A, Liao XH, Turoglu T, Aribal E, Refetoff S. Bereket A, et al. Among authors: refetoff s. J Pediatr Endocrinol Metab. 2004 Jul;17(7):1021-9. doi: 10.1515/jpem.2004.17.7.1021. J Pediatr Endocrinol Metab. 2004. PMID: 15301052

5

Delineation of the discontinuous-conformational epitope of a monoclonal antibody displaying full in vitro and in vivo thyrotropin activity.

Costagliola S, Bonomi M, Morgenthaler NG, Van Durme J, Panneels V, Refetoff S, Vassart G. Costagliola S, et al. Among authors: refetoff s. Mol Endocrinol. 2004 Dec;18(12):3020-34. doi: 10.1210/me.2004-0231. Epub 2004 Aug 19. Mol Endocrinol. 2004. PMID: 15319453

6

A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone.

Lado-Abeal J, Dumitrescu AM, Liao XH, Cohen RN, Pohlenz J, Weiss RE, Lebrethon MC, Verloes A, Refetoff S. Lado-Abeal J, et al. Among authors: refetoff s. J Clin Endocrinol Metab. 2005 Mar;90(3):1760-7. doi: 10.1210/jc.2004-1488. Epub 2004 Dec 14. J Clin Endocrinol Metab. 2005. PMID: 15598685

7

Negative regulation by thyroid hormone receptor requires an intact coactivator-binding surface.

Ortiga-Carvalho TM, Shibusawa N, Nikrodhanond A, Oliveira KJ, Machado DS, Liao XH, Cohen RN, Refetoff S, Wondisford FE. Ortiga-Carvalho TM, et al. Among authors: refetoff s. J Clin Invest. 2005 Sep;115(9):2517-23. doi: 10.1172/JCI24109. Epub 2005 Aug 11. J Clin Invest. 2005. PMID: 16100573 Free PMC article.

8

Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.

Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S. Dumitrescu AM, et al. Among authors: refetoff s. Nat Genet. 2005 Nov;37(11):1247-52. doi: 10.1038/ng1654. Epub 2005 Oct 16. Nat Genet. 2005. PMID: 16228000

9

Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice.

Dumitrescu AM, Liao XH, Weiss RE, Millen K, Refetoff S. Dumitrescu AM, et al. Among authors: refetoff s. Endocrinology. 2006 Sep;147(9):4036-43. doi: 10.1210/en.2006-0390. Epub 2006 May 18. Endocrinology. 2006. PMID: 16709608

10

Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.

Mamanasiri S, Yesil S, Dumitrescu AM, Liao XH, Demir T, Weiss RE, Refetoff S. Mamanasiri S, et al. Among authors: refetoff s. J Clin Endocrinol Metab. 2006 Sep;91(9):3471-7. doi: 10.1210/jc.2006-0727. Epub 2006 Jun 27. J Clin Endocrinol Metab. 2006. PMID: 16804041

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