Ontology highlight
ABSTRACT:
SUBMITTER: Pitteloud N
PROVIDER: S-EPMC2077276 | biostudies-literature | 2007 Oct
REPOSITORIES: biostudies-literature
Pitteloud Nelly N Zhang Chengkang C Pignatelli Duarte D Li Jia-Da JD Raivio Taneli T Cole Lindsay W LW Plummer Lacey L Jacobson-Dickman Elka E EE Mellon Pamela L PL Zhou Qun-Yong QY Crowley William F WF
Proceedings of the National Academy of Sciences of the United States of America 20071024 44
Gonadotropin-releasing hormone (GnRH) deficiency in the human presents either as normosmic idiopathic hypogonadotropic hypogonadism (nIHH) or with anosmia [Kallmann syndrome (KS)]. To date, several loci have been identified to cause these disorders, but only 30% of cases exhibit mutations in known genes. Recently, murine studies have demonstrated a critical role of the prokineticin pathway in olfactory bulb morphogenesis and GnRH secretion. Therefore, we hypothesize that mutations in prokinetici ...[more]