Hypogonadotropic Hypogonadism due to a Novel Missense Mutation in the First Extracellular Loop of the Neurokinin B Receptor

GÜRAN, TÜLAY; Tolhurst, Gwen; BEREKET, ABDULLAH; Rocha, Nuno; Porter, Keith; Turan, Serap; Gribble, Fiona; KOTAN, LEMAN; Akcay, Teoman; Atay, Zeynep; Canan, Husniye; Serin, Ayse; O'Rahilly, Stephen; Reimann, Frank; Semple, Robert; TOPALOĞLU, ALİ

doi:10.1210/jc.2009-0551

Hypogonadotropic Hypogonadism due to a Novel Missense Mutation in the First Extracellular Loop of the Neurokinin B Receptor

GÜRAN T., Tolhurst G., BEREKET A., Rocha N., Porter K., Turan S., ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.94, sa.10, ss.3633-3639, 2009 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 94 Sayı: 10
Basım Tarihi: 2009
Doi Numarası: 10.1210/jc.2009-0551
Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.3633-3639
Çukurova Üniversitesi Adresli: Evet

Özet

Context: 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).