KEGG   NETWORK: N00876Help
Entry
N00876                      Network                                

Name
Mutation-inactivated FGF8 to RAS-ERK signaling pathway
Definition
FGF8* // FGFR1 -> GRB2 -> SOS -> RAS -> RAF -> MEK -> ERK
  Expanded
2253v1 // 2260-> 2885 -> (6654,6655) -> (3265,3845,4893) -> (369,673,5894) -> (5604,5605) -> (5594,5595)
Type
Variant
Pathway
hsa04010  MAPK signaling pathway
Disease
H00255  Hypogonadotropic hypogonadism
Gene
2253  FGF8; fibroblast growth factor 8
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
2253v1  FGF8 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
Mol Cell Endocrinol 346:37-43 (2011)
DOI:10.1016/j.mce.2011.05.042
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
J Clin Endocrinol Metab 95:3491-6 (2010)
DOI:10.1210/jc.2010-0176

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