Entry |
|
Name |
|
Gene |
|
Organism |
hsa_var Human gene variants (Homo sapiens)
|
Variation |
|
Network |
nt06323 KISS1-GnRH-LH/FSH-E2 signaling |
Disease |
H02061 | Estrogen resistance syndrome |
|
Drug target |
|
Reference |
|
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 |
|
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 |
|
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 |
|
LinkDB |
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