Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism

Thyroid

Volumn 24, Issue 3, 2014, Pages 407-409

  Refetoff, Samuel ^a   Bassett, J H Duncan ^b   Beck Peccoz, Paolo ^c,d   Bernal, Juan ^e,f   Brent, Gregory ^g   Chatterjee, Krishna ^h   De Groot, Leslie J ⁱ   Dumitrescu, Alexandra M ^a   Jameson, J Larry ^j   Kopp, Peter A ^k   Murata, Yoshiharu ^l   Persani, Luca ^c,m   Samarut, Jacques ⁿ   Weiss, Roy E ^a   Williams, Graham R ^b   Yen, Paul M ^o  

^a UNIVERSITY OF CHICAGO   (United States)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF MILAN   (Italy)

^d FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^e UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^f CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h UNIVERSITY OF CAMBRIDGE   (United Kingdom)

ⁱ Thyroidmanager and Endotext   (United States)

^j UNIVERSITY OF PENNSYLVANIA   (United States)

^k NORTHWESTERN UNIVERSITY   (United States)

^l NAGOYA UNIVERSITY   (Japan)

^m ISTITUTO AUXOLOGICO ITALIANO   (Italy)

ⁿ UNIVERSITÉ DE LYON   (France)

^o AGENCY FOR SCIENCE   (Singapore)

more..

Author keywords

[No Author keywords available]

Indexed keywords

LIOTHYRONINE; THYROID HORMONE; THYROXINE;

CELL MEMBRANE TRANSPORT; CELL METABOLISM; CELL TRANSPORT; CLASSIFICATION; FREE THYROXINE INDEX; GENE MUTATION; GENETIC DISORDER; HORMONE ACTION; NOMENCLATURE; NOTE; PHENOTYPE; PRIORITY JOURNAL; THYROID HORMONE METABOLISM; THYROID HORMONE RESISTANCE;

HUMANS; TERMINOLOGY AS TOPIC; THYROID DISEASES; THYROID HORMONES;

EID: 84896743458     PISSN: 10507256     EISSN: 15579077     Source Type: Journal    
DOI: 10.1089/thy.2013.3393.nomen     Document Type: Note

References (13)

1. Refetoff S, DeWind LT, DeGroot LJ 1967 Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab 27:279-294.
2. Sakurai A, Takeda K, Ain K, et al 1989 Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor b. Proc Natl Acad Sci USA 86:8977-8981.
3. Usala SJ, Tennyson GE, Bale AE, et al 1990 A base mutation of the c-erbA b thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds. J Clin Invest 85:93-100.
4. Weinberger C, Thompson CC, Ong ES, Lebo R, Gruol DJ, Evans RM 1986 The c-erb-A gene encodes a thyroid hormone receptor. Nature 324:641-646.
5. Sap J, Muñoz A, Damm K, et al 1986 The c-erb-A protein is a high-affinity receptor for thyroid hormone. Nature 324:635-640.
6. Refetoff S, Weiss RE, Usala SJ 1993 The syndromes of resistance to thyroid hormone. Endocr Rev 14:348-399.
7. Beck-Peccoz P, Chatterjee VK, Chin WW, et al 1994 Nomenclature of thyroid hormone receptor b-gene mutations in resistance to thyroid hormone: Consensus statement from the first workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, United Kingdom. J Clin Endocrinol Metab 78:990-993.
8. Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S 2004 A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet 74:168-175.
9. Friesema EC, Grueters A, Biebermann H, et al 2004 Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet 364:1435-1437.
10. Dumitrescu AM, Liao XH, Abdullah MS, et al 2005 Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet 37:1247-1252.
11. Bochukova E, Schoenmakers N, Agostini M, et al 2012 A mutation in the thyroid hormone receptor a gene. N Engl J Med 366:243-249.
12. van Mullem A, van Heerebeek R, Chrysis D, et al 2012 Clinical phenotype and mutant TRa1. N Engl J Med 366:1451-1453.
13. Weiss RE, Hayashi Y, Nagaya T, et al 1996 Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor a or b genes may be due to a defective cofactor. J Clin Endocrinol Metab 81:4196-4203.