KEGG   VARIANT: 2099v2
Entry
2099v2                      Variant                                
Name
ESR1 mutations
Gene
ESR1  estrogen receptor 1 [KO:K08550]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 133430
Network
nt06323  KISS1-GnRH-LH/FSH-E2 signaling
  Element
N00887  Mutation-inactivated ESR1 to nuclear-initiated estrogen signaling pathway
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
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
  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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