Resistance to thyroid hormone with and without receptor gene mutations

Annales d'Endocrinologie

Volumn 64, Issue 1, 2003, Pages 23-25

  Refetoff, S ^a  

^a UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LIOTHYRONINE; THYROID HORMONE; THYROXINE;

AMINO ACID SEQUENCE; ANIMAL MODEL; CONFERENCE PAPER; CONTROLLED STUDY; DISEASE ASSOCIATION; DOMINANT INHERITANCE; GENE MUTATION; HORMONE RESISTANCE; HUMAN; MAJOR CLINICAL STUDY; MOUSE; NONHUMAN; RECEPTOR GENE; RECESSIVE INHERITANCE;

ANIMALS; DISEASE MODELS, ANIMAL; HUMANS; MUTATION; RECEPTORS, THYROID HORMONE; THYROID HORMONE RESISTANCE SYNDROME;

EID: 0037308537     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (23)

1. Refetoff S, Weiss RE, Usala SJ, Hayashi Y. The syndromes of resistance to thyroid hormone: update 1994. In: Endocrine Reviews Monographs., edited by L. E. Braverman and S. Refetoff. Bethesda, MD: The Endocrine Society, 1994, p.336-343.
2. Takeda K, Sakurai A, DeGroot LJ, Refetoff S. Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-β gene. J Clin Endocrinol Metab 1992; 74: 49-55.
3. Huizenga NA, de Lange P, Koper JW, de Herder WW, Abs R, Kasteren JH, de Jong FH, Lamberts SW. Five patients with biochemical and/or clinical generalized glucocorticoid resistance without alterations in the glucocorticoid receptor gene. J Clin Endocrinol Metab 2000; 85: 2076-2081.
4. Meier CA, Dickstein BM, Ashizawa K, McClaskey JH, Muchmore P, Ransom SC, Menke JB, Hao EH, Usala SJ, Bercu BB, Cheng SY, Weintraub BD. Variable transcriptional activity and ligand binding of mutant β1 3,5,3′-triioclothyronine receptors from four families with generalized resistance to thyroid hormone. Mol Endocrinol 1992; 6: 248-258.
5. Hayashi Y, Weiss RE, Sarne DH, Yen PM, Sunthornthepvarakul T, Marcocci C, Chin WW, Refetoff S. Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-β receptors? J Clin Endocrinol Metab 1995; 80: 3246-3256.
6. Clifton-Bligh RJ, de Zegher F, Wagner RL, Collingwood TN, François I, Van Helvoirt M, Fletterick RJ, Chatterjee VKK. A novel mutation (R383H) in resistance to thyroid hormone syndrome predominantly impairs corepressor release and negative transcriptional regulation. Mol Endocrinol 1998; 12: 609-621.
7. Collingwood TN, Rajanayagam O, Adams M, Wagner R, Cavaillès V, Kalkhoven E, Matthews C, Nystrom E, Stenlof K, Lindstedt G, Tisell L, Fletterick RJ, Parker MG, Chatterjee VKK. A natural transactivation mutation in the thyroid hormone β receptor: Impaired interaction with putative transcriptional mediators. Proc Natl Acad Sci USA 1997: 94: 248-253.
8. Yagi H, Pohlenz J, Hayashi Y, Sakurai A, Refetoff S. Resistance to thyroid hormone caused by two mutant thyroid hormone receptor β, R243Q and R243W, with marked impairment of function that cannot be explained by altered in-vitro 3,5,3′-triiodothyronine binding affinity. J Clin Endocrinol Metab 1997; 82: 1608-1614.
9. Safer JD, Cohen RN, Hollenberg AN, Wondisford FE. Defective release of corepressor by hinge mutants of the thyroid hormone receptor found in patients with resistance to thyroid hormone. J Biol Chem 1998; 273: 30175-30182.
10. Weiss RE, Hayashi Y, Nagaya T, Petty KJ, Murata Y, Tunka H, Seo H, Refetoff S. Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptors α or β genes may be due to a defective co-factor. J Clin Endocrinol Metab 1996; 81: 4196-4203.
11. Pohlenz J, Weiss RE, Macchia P. E., Pannain S, Lau IT, Ho H, Refetoff S. Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor β gene. J Clin Endocrinol Metab 1999; 84: 3919-3928.
12. Vlaeminck-Guillem V, Margotat A, Torresani J, D'Herbomez M, Decoulx M, Wemeau JL. Resistance to thyroid hormone in a family with no TRβ gene anomaly: pathogenic hypotheses. Ann Endocrinol (Paris) 2000; 61: 194-199.
13. Reutrakul S, Sadow PM, Pannain S, Pohlenz J, Carvalho G, Macchia PE, Weiss RE, Refetoff S. Search for abnormalities of nuclear corepressors, coactivators and a coregulator in families with resistance to thyroid hormone without thyroid hormone receptor β or α? genes mutations. J Clin Endocrinol Metab 2000; 85: 3609-3617.
14. Forrest D, Erway LC, Ng L, Altschuler R, Curran T. Thyroid hormone receptor β is essential for development of auditory function. Nature Genet 1996; 13: 354-357.
15. Ng L, Hurley JB, Dierks B, Srinivas M, Salto C, Vennstrom B, Reh TA, Forrest D. A thyroid hormone receptor that is required for the development of green cone photoreceptors. Nat Genet 2001; 27: 94-98.
16. Weiss RE, Forrest D, Pohlenz J, Cua K, Curran T, Refetoff S. Thyrotropin regulation by thyroid hormone in thyroid hormone receptor β-deficient mice. Endocrinol 1997; 138: 3624-3629.
17. Weiss RE, Murata Y, Cua K, Hayashi Y, Seo H, Refetoff S. Thyroid hormone action on liver, heart and energy expenditure in thyroid hormone receptor β deficient mice. (Erratum, 141: 4767, 2000). Endocrinol 1998; 139: 4945-4952.
18. Hayashi Y, Mangoura D, Refetoff S. A mouse model of resistance to thyroid hormone produced by somatic gene transfer of a mutant thyroid hormone receptor. Mol Endocrinol 1996; 10: 100-106.
19. Kaneshige M, Kaneshige K, Zhu X-g, Dace A, Garrett L, Carter TA, Kazlauskaite R, Pankratz DG, Wynshaw-Boris A, Refetoff S, Weintraube B, Willingham MC, Barlow C, Cheng S-y. Mice with a targeted mutation in the thyroid hormone β receptor gene exhibit impaired growth and resistance to thyroid hormone. Proc Natl Acad Sci (USA) 2000; 97: 13209-13214.
20. Hashimoto K, Curty FH, Borges PP, Lee CE, Abel ED, Elmquist JK, Cohen RN, Wondisford FE. An unliganded thyroid hormone receptor causes severe neurological dysfunction. Proc Natl Acad Sci (USA) 2001; 98: 3998-4003.
21. Macchia PE, Takeuchi Y, Kawai T, Cua K, Gauthier K, Chassande O, Seo H, Hayashi Y, Samarut J, Murata Y, Weiss RE, Refetoff S. Increased sensitivity to thyroid hormone in mice with complete deficiency of thyroid hormone receptor alpha. Proc Natl Acad Sci (USA) 2001; 98: 349-354.
22. Morte B, Manzano J, Scanlan T, Vennstrom B, Bernal J. Deletion of the thyroid hormone receptor alpha 1 prevents the structural alterations of the cerebellum induced by hypothyroidism. Proc Natl Acad Sci (USA) 2002; 99: 3985-3989.
23. Kaneshige M, Suzuki H, Kaneshige K, Cheng J, Wimbrow H, Barlow C, Willingham MC, Cheng Sy S. A targeted dominant negative mutation of the thyroid hormone alpha 1 receptor causes increased mortality, infertility, and dwarfism in mice. Proc Natl Acad Sci (USA) 2001; 4: 4.