| Entry |
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| Name |
Mutation-inactivated ESR1 to nuclear-initiated estrogen signaling pathway
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| Definition |
E2 // ESR1* |
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| Expanded |
C00951 // 2099v2 |
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| Class |
nt06323 KISS1-GnRH-LH/FSH-E2 signaling
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| Type |
Variant
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| Disease |
| H02061 | Estrogen resistance syndrome |
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| Gene |
| 2099 | ESR1; estrogen receptor 1 |
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| Variant |
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| Metabolite |
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| Reference |
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| 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. |
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| Journal |
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| Reference |
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| Authors |
Smith EP, Boyd J, Frank GR, Takahashi H, Cohen RM, Specker B, Williams TC, Lubahn DB, Korach KS |
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| Title |
Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. |
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| Journal |
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| Reference |
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| 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. |
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| Journal |
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| LinkDB |
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