Entry |
|
Name |
Mutation-inactivated FGFR1 to RAS-ERK signaling pathway
|
Definition |
FGF8 // FGFR1* -> GRB2 -> SOS -> RAS -> RAF -> MEK -> ERK |
Expanded |
2253 // 2260v2 -> 2885 -> (6654,6655) -> (3265,3845,4893) -> (369,673,5894) -> (5604,5605) -> (5594,5595) |
Class |
nt06361 Hypogonadotropic hypogonadism
|
Type |
Variant
|
Disease |
H00255 | Hypogonadotropic hypogonadism |
|
Gene |
2253 | FGF8; fibroblast growth factor 8 |
2260 | FGFR1; fibroblast growth factor receptor 1 |
2885 | GRB2; growth factor receptor bound protein 2 |
6654 | SOS1; SOS Ras/Rac guanine nucleotide exchange factor 1 |
6655 | SOS2; SOS Ras/Rho guanine nucleotide exchange factor 2 |
3265 | HRAS; HRas proto-oncogene, GTPase |
3845 | KRAS; KRAS proto-oncogene, GTPase |
4893 | NRAS; NRAS proto-oncogene, GTPase |
369 | ARAF; A-Raf proto-oncogene, serine/threonine kinase |
673 | BRAF; B-Raf proto-oncogene, serine/threonine kinase |
5894 | RAF1; Raf-1 proto-oncogene, serine/threonine kinase |
5604 | MAP2K1; mitogen-activated protein kinase kinase 1 |
5605 | MAP2K2; mitogen-activated protein kinase kinase 2 |
5594 | MAPK1; mitogen-activated protein kinase 1 |
5595 | MAPK3; mitogen-activated protein kinase 3 |
|
Variant |
2260v2 (FGFR1*) FGFR1 mutation
|
Reference |
|
Authors |
Miraoui H, Dwyer A, Pitteloud N |
Title |
Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction. |
Journal |
|
Reference |
|
Authors |
Trarbach EB, Abreu AP, Silveira LF, Garmes HM, Baptista MT, Teles MG, Costa EM, Mohammadi M, Pitteloud N, Mendonca BB, Latronico AC |
Title |
Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency. |
Journal |
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LinkDB |
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