CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism

TURAN, İHSAN; Hutchins, B.; Hacihamdioglu, Bulent; KOTAN, LEMAN; GÜRBÜZ, FATİH; Ulubay, Ayca; Mengen, Eda; YÜKSEL, BİLGİN; Wray, Susan; TOPALOĞLU, ALİ

doi:10.1210/jc.2016-3391

CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism

TURAN İ., Hutchins B. I., Hacihamdioglu B., KOTAN L. D., GÜRBÜZ F., Ulubay A., ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.102, sa.6, ss.1816-1825, 2017 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 102 Sayı: 6
Basım Tarihi: 2017
Doi Numarası: 10.1210/jc.2016-3391
Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1816-1825
Çukurova Üniversitesi Adresli: Evet

Özet

Context: Gonadotropin-releasing hormone neurons originate outside the central nervous systemin the olfactory placode and migrate into the central nervous system, becoming integral components of the hypothalamic-pituitary-gonadal axis. Failure of this migration can lead to idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS). We have previously shown that CCDC141 knockdown leads to impaired migration of GnRH neurons but not of olfactory receptor neurons.