Ontology highlight
ABSTRACT:
SUBMITTER: Guran T
PROVIDER: S-EPMC4306717 | biostudies-literature | 2009 Oct
REPOSITORIES: biostudies-literature
Guran Tulay T Tolhurst Gwen G Bereket Abdullah A Rocha Nuno N Porter Keith K Turan Serap S Gribble Fiona M FM Kotan L Damla LD Akcay Teoman T Atay Zeynep Z Canan Husniye H Serin Ayse A O'Rahilly Stephen S Reimann Frank F Semple Robert K RK Topaloglu A Kemal AK
The Journal of clinical endocrinology and metabolism 20090915 10
<h4>Context</h4>The neurokinin B (NKB) receptor, encoded by TACR3, is widely expressed within the central nervous system, including hypothalamic nuclei involved in regulating GnRH release. We have recently reported two mutations in transmembrane segments of the receptor and a missense mutation in NKB in patients with normosmic isolated hypogonadotropic hypogonadism (nIHH).<h4>Patients and methods</h4>We sequenced the TACR3 gene in a family in which three siblings had nIHH. The novel mutant recep ...[more]