Article
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.
The Journal of clinical investigation - 1 Aug 2008
Falardeau John, Chung Wilson C J, Beenken Andrew, Raivio Taneli, Plummer Lacey, Sidis Yisrael, Jacobson-Dickman Elka E, Eliseenkova Anna V, Ma Jinghong, Dwyer Andrew, Quinton Richard, Na Sandra, Hall Janet E, Huot Celine, Alois Natalie, Pearce Simon H S, Cole Lindsay W, Hughes Virginia, Mohammadi Moosa, Tsai Pei, Pitteloud Nelly
Abstract excerpt
Idiopathic hypogonadotropic hypogonadism (IHH) with anosmia (Kallmann syndrome; KS) or with a normal sense of smell (normosmic IHH; nIHH) are heterogeneous genetic disorders associated with deficiency of gonadotropin-releasing hormone (GnRH). While loss-of-function mutations in FGF receptor 1 (FGFR1) cause human GnRH deficiency, to date no specific ligand for FGFR1 has been identified in GnRH neuron ontogeny....
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