| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| 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 |
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|---|
| LinkDB |
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