KEGG   NETWORK: N00799
Entry
N00799                      Network                                

Name
Mutation-inactivated THRA to thyroid hormone signaling pathway
Definition
(SLC16A10,SLC16A2) -> T3 // THRA* -- RXR
  Expanded
(117247,6567) -> C02465 // 7067v1 -- (6256,6257,6258)
Class
nt06322 TRH-TSH-TH signaling
Type
Variant
Disease
H00250  Congenital nongoitrous hypothyroidism (CHNG)
Gene
117247  SLC16A10; solute carrier family 16 member 10
6567  SLC16A2; solute carrier family 16 member 2
7067  THRA; thyroid hormone receptor alpha
6256  RXRA; retinoid X receptor alpha
6257  RXRB; retinoid X receptor beta
6258  RXRG; retinoid X receptor gamma
Variant
7067v1 (THRA*)  THRA mutation
Metabolite
C02465  Triiodothyronine
Reference
  Authors
Bassett JH, Williams GR
  Title
Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.
  Journal
Endocr Rev 37:135-87 (2016)
DOI:10.1210/er.2015-1106
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
Reference
PMID:8527577
  Authors
Cortes E, Pigrau C, Barbera J, Almirante B
  Title
Cellulitis and spondylitis due to Streptococcus pneumoniae.
  Journal
Clin Infect Dis 21:696 (1995)
DOI:10.1093/clinids/21.3.696
LinkDB

DBGET integrated database retrieval system