Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

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...

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Veröffentlicht in:	The Journal of clinical investigation 2008-08, Vol.118 (8), p.2822-2831
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Animals Biomedical research Case-Control Studies Cohort Studies Female Fibroblast Growth Factor 8 - chemistry Fibroblast Growth Factor 8 - genetics Fibroblast Growth Factor 8 - metabolism Gene mutations Genetic aspects Gonadotropin releasing hormone Gonadotropin-Releasing Hormone - deficiency Gonadotropin-Releasing Hormone - genetics Gonadotropin-Releasing Hormone - metabolism Health aspects Heterozygote Humans Hypogonadism - genetics Hypogonadism - physiopathology Kallmann Syndrome - genetics Kallmann Syndrome - physiopathology Male Mice Mice, Transgenic Models, Molecular Mutation Neurons - cytology Neurons - metabolism Olfaction Disorders - genetics Pedigree Physiological aspects Signal Transduction
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