| Entry |
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| Name |
Mutation-inactivated PROKR2 to PROK-PRKR-Gi-ERK signaling pathway
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| Definition |
PROK1/2 -> PROKR2* -> GNAI -> ERK |
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| Expanded |
(84432,60675) -> 128674v1 -> (2770,2771,2773) -> (5594,5595) |
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| Class |
nt06361 Hypogonadotropic hypogonadism
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| Type |
Variant
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| Disease |
| H00255 | Hypogonadotropic hypogonadism |
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| Gene |
| 84432 | PROK1; prokineticin 1 |
| 60675 | PROK2; prokineticin 2 |
| 128674 | PROKR2; prokineticin receptor 2 |
| 2770 | GNAI1; G protein subunit alpha i1 |
| 2771 | GNAI2; G protein subunit alpha i2 |
| 2773 | GNAI3; G protein subunit alpha i3 |
| 5594 | MAPK1; mitogen-activated protein kinase 1 |
| 5595 | MAPK3; mitogen-activated protein kinase 3 |
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| Variant |
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| Reference |
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| Authors |
Abreu AP, Kaiser UB, Latronico AC |
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| Title |
The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism. |
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| Journal |
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| Reference |
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| Authors |
Dode C, Rondard P |
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| Title |
PROK2/PROKR2 Signaling and Kallmann Syndrome. |
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| Journal |
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| Reference |
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| Authors |
Cole LW, Sidis Y, Zhang C, Quinton R, Plummer L, Pignatelli D, Hughes VA, Dwyer AA, Raivio T, Hayes FJ, Seminara SB, Huot C, Alos N, Speiser P, Takeshita A, Van Vliet G, Pearce S, Crowley WF Jr, Zhou QY, Pitteloud N |
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| Title |
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. |
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| Journal |
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| Reference |
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| Authors |
Chen J, Kuei C, Sutton S, Wilson S, Yu J, Kamme F, Mazur C, Lovenberg T, Liu C |
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| Title |
Identification and pharmacological characterization of prokineticin 2 beta as a selective ligand for prokineticin receptor 1. |
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| Journal |
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| LinkDB |
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