KEGG   NETWORK: N00925
Entry
N00925                      Network                                

Name
Mutation-inactivated NR3C1 to glucocorticoid receptor signaling pathway
Definition
GC // NR3C1* // MED14 => (IGFBP1,IRF8)
  Expanded
C00735 // 2908v1 // 9282 => (3484,3394)
Class
nt06310 CRH-ACTH-cortisol signaling
Type
Variant
Disease
H01702  Glucocorticoid resistance syndrome
Gene
2908  NR3C1; nuclear receptor subfamily 3 group C member 1
9282  MED14; mediator complex subunit 14
3484  IGFBP1; insulin like growth factor binding protein 1
3394  IRF8; interferon regulatory factor 8
Variant
2908v1 (NR3C1*)  NR3C1 mutation
Metabolite
C00735  Cortisol
Reference
  Authors
Nicolaides N, Lamprokostopoulou A, Sertedaki A, Charmandari E
  Title
Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance.
  Journal
Hormones (Athens) 15:23-34 (2016)
DOI:10.14310/horm.2002.1660
Reference
  Authors
Vitellius G, Trabado S, Bouligand J, Delemer B, Lombes M
  Title
Pathophysiology of Glucocorticoid Signaling.
  Journal
Ann Endocrinol (Paris) 79:98-106 (2018)
DOI:10.1016/j.ando.2018.03.001
Reference
  Authors
Kino T
  Title
Single Nucleotide Variations of the Human GR Gene Manifested as Pathologic Mutations or Polymorphisms.
  Journal
Endocrinology 159:2506-2519 (2018)
DOI:10.1210/en.2017-03254
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