KEGG   NETWORK: N00887
Entry
N00887                      Network                                
Name
Mutation-inactivated ESR1 to nuclear-initiated estrogen signaling pathway
Definition
E2 // ESR1*
  Expanded
C00951 // 2099v2
Class
nt06323 KISS1-GnRH-LH/FSH-E2 signaling
Type
Variant
Disease
H02061  Estrogen resistance syndrome
Gene
2099  ESR1; estrogen receptor 1
Variant
2099v2 (ESR1*)  ESR1 mutations
Metabolite
C00951  Estradiol-17beta
Reference
  Authors
Quaynor SD, Stradtman EW Jr, Kim HG, Shen Y, Chorich LP, Schreihofer DA, Layman LC
  Title
Delayed puberty and estrogen resistance in a woman with estrogen receptor alpha variant.
  Journal
N Engl J Med 369:164-71 (2013)
DOI:10.1056/NEJMoa1303611
Reference
PMID:8090165
  Authors
Smith EP, Boyd J, Frank GR, Takahashi H, Cohen RM, Specker B, Williams TC, Lubahn DB, Korach KS
  Title
Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man.
  Journal
N Engl J Med 331:1056-61 (1994)
DOI:10.1056/NEJM199410203311604
Reference
  Authors
Bernard V, Kherra S, Francou B, Fagart J, Viengchareun S, Guechot J, Ladjouze A, Guiochon-Mantel A, Korach KS, Binart N, Lombes M, Christin-Maitre S
  Title
Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation.
  Journal
J Clin Endocrinol Metab 102:93-99 (2017)
DOI:10.1210/jc.2016-2749
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