Resistance to thyroid hormone caused by a new mutation (V336M) in the thyroid hormone receptor β gene

Thyroid

Volumn 9, Issue 10, 1999, Pages 1001-1004

  Pohlenz, Joachim ^a,b   Schönberger, Winfried ^b   Koffler, Thomas ^b   Refetoff, Samuel ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; LIOTHYRONINE; THYROID HORMONE RECEPTOR; THYROTROPIN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; GENE EXPRESSION; GENE MUTATION; GENOME; HORMONE RECEPTOR INTERACTION; HORMONE RESISTANCE; HUMAN; HYPOTHALAMUS HYPOPHYSIS THYROID SYSTEM; INFANT; MALE; PREMATURITY; PRIORITY JOURNAL; RECEPTOR GENE; THYROID HORMONE RESISTANCE;

EID: 2442761728     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.1999.9.1001     Document Type: Article

References (10)

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2. Refetoff S, DeWind LT, DeGroot LJ 1967 Familial syndrome combining deafmutism, stippled epiphyses, goiter, and abnormally high PBI: Possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab 27:279-294.
3. Usala SJ, Bale AE, Gesundheit N, Weinberger C, Lash RW, Wondisford FE, McBride OW, Weintraub BD 1988 Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbAβ gene. Mol Endocrinol 2:1217-1220.
4. Adams M, Matthews C, Collingwood TN, Tone Y, Beck-Peccoz P, Chatterjee KK 1994 Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone: Identification of thirteen novel mutations in the thyroid hormone receptor β gene. J Clin Invest 94:506-515.
5. 3)-binding domain of the thyroid hormone receptor (TR) β gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone. J Clin Invest 94:607-615.
6. Smith TJ, Murata Y, Horwitz AL, Philipson L, Refetoff S 1982 Regulation of glycosaminoglycan accumulation by thyroid hormone in vitro. J Clin Invest 70:1066-1073.
7. Snyder D, Sesser D, Skeels M, Nelson G, LaFranchi S 1997 Thyroid disorders in newborn infants with elevated screening T4. Thyroid 7(suppl. 1):S-29.
8. Weiss RE, Balzano S, Scherberg NH, Refetoff S 1990 Neonatal detection of generalized resistance to thyroid hormone. JAMA 264:2245-2250.
9. Asteria C, Rajanayagam O, Collingwood N, Persani L, Romoli R, Mannavola D, Zamperini P, Buzi F, Ciralli F, Chatterjee VK, Beck-Peccoz P 1999 Prenatal diagnosis of thyroid hormone resistance. J Clin Endocrinol Metab 84:405-410.
10. Refetoff S, Weiss RE, Usala SJ, Hayashi Y 1994 The syndromes of resistance to thyroid hormone: update 1994. In: Braverman LE, Refetoff S (eds) Endocrine Reviews Monographs. The Endocrine Society, Bethesda, MD, p 336-343.