KEGG   VARIANT: 7068v1
Entry
7068v1                      Variant                                
Name
THRB mutation
Type
Loss of function
Gene
THRB  thyroid hormone receptor beta [KO:K08362]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 190160
Network
nt06322  TRH-TSH-TH signaling
Disease
H00249  Thyroid hormone resistance syndrome
Reference
PMID:1991834
  Authors
Takeda K, Balzano S, Sakurai A, DeGroot LJ, Refetoff S
  Title
Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation.
  Journal
J Clin Invest 87:496-502 (1991)
DOI:10.1172/JCI115023
Reference
PMID:8013151
  Authors
Beck-Peccoz P, Chatterjee VK, Chin WW, DeGroot LJ, Jameson JL, Nakamura H, Refetoff S, Usala SJ, Weintraub BD
  Title
Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11 July 1993, Cambridge, UK.
  Journal
Clin Endocrinol (Oxf) 40:697-700 (1994)
DOI:10.1111/j.1365-2265.1994.tb03024.x
Reference
PMID:9927321
  Authors
Gloss B, Sayen MR, Trost SU, Bluhm WF, Meyer M, Swanson EA, Usala SJ, Dillmann WH
  Title
Altered cardiac phenotype in transgenic mice carrying the delta337 threonine thyroid hormone receptor beta mutant derived from the S family.
  Journal
Endocrinology 140:897-902 (1999)
DOI:10.1210/endo.140.2.6527
Reference
PMID:7711514
  Authors
Jameson JL
  Title
Mechanisms by which thyroid hormone receptor mutations cause clinical syndromes of resistance to thyroid hormone.
  Journal
Thyroid 4:485-92 (1994)
DOI:10.1089/thy.1994.4.485
Reference
  Authors
Dumitrescu AM, Refetoff S
  Title
Impaired Sensitivity to Thyroid Hormone: Defects of Transport, Metabolism and Action
  Journal
Endotext (2000)
Reference
  Authors
Singh BK, Yen PM
  Title
A clinician's guide to understanding resistance to thyroid hormone due to receptor mutations in the TRalpha and TRbeta isoforms.
  Journal
Clin Diabetes Endocrinol 3:8 (2017)
DOI:10.1186/s40842-017-0046-z
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