| 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 |
|
|---|
| LinkDB |
|
|---|
