 | | NETWORK: N00883 | |
| Entry |
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| Name |
Mutation-inactivated TAC3 to TAC3-TACR3-PLC-PKC signaling pathway
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| Definition |
TAC3* // TACR3 |
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| Expanded |
6866v1 // 6870 |
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| Class |
nt06323 KISS1-GnRH-LH/FSH-E2 signaling
nt06361 Hypogonadotropic hypogonadism
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| Type |
Variant
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| Disease |
| H00255 | Hypogonadotropic hypogonadism |
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| Gene |
| 6866 | TAC3; tachykinin precursor 3 |
| 6870 | TACR3; tachykinin receptor 3 |
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| Variant |
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| Reference |
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| Authors |
Topaloglu AK, Reimann F, Guclu M, Yalin AS, Kotan LD, Porter KM, Serin A, Mungan NO, Cook JR, Ozbek MN, Imamoglu S, Akalin NS, Yuksel B, O'Rahilly S, Semple RK |
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| Title |
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. |
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| Journal |
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| Reference |
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| Authors |
Francou B, Bouligand J, Voican A, Amazit L, Trabado S, Fagart J, Meduri G, Brailly-Tabard S, Chanson P, Lecomte P, Guiochon-Mantel A, Young J |
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| Title |
Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations. |
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| Journal |
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| LinkDB |
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