KEGG   VARIANT: 2260v2
Entry
2260v2                      Variant                                
Name
FGFR1 mutation
Gene
FGFR1  fibroblast growth factor receptor 1 [KO:K04362]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 136350
Network
nt06361  Hypogonadotropic hypogonadism
  Element
N00878  Mutation-inactivated FGFR1 to RAS-ERK signaling pathway
Disease
H00255  Hypogonadotropic hypogonadism
Reference
  Authors
Dode C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pecheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP
  Title
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
  Journal
Nat Genet 33:463-5 (2003)
DOI:10.1038/ng1122
Reference
  Authors
Trarbach EB, Costa EM, Versiani B, de Castro M, Baptista MT, Garmes HM, de Mendonca BB, Latronico AC
  Title
Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.
  Journal
J Clin Endocrinol Metab 91:4006-12 (2006)
DOI:10.1210/jc.2005-2793
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
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