POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression

POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression

Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by the absence of pubertal development and subsequent impaired fertility often due to gonadotropin-releasing hormone (GnRH) deficits. Exome sequencing of two independent cohorts of IHH patients identified 12 rare missense variants in PO...

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Bibliographic Details
Main Authors: Hyun-Ju Cho, Fatih Gurbuz, Maria Stamou, Leman Damla Kotan, Stephen Matthew Farmer, Sule Can, Miranda Faith Tompkins, Jamala Mammadova, S. Ayca Altincik, Cumali Gokce, Gonul Catli, Fuat Bugrul, Keenan Bartlett, Ihsan Turan, Ravikumar Balasubramanian, Bilgin Yuksel, Stephanie B. Seminara, Susan Wray, A. Kemal Topaloglu
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-08-01
Series:Frontiers in Endocrinology
Subjects:
idiopathic hypogonadotropic hypogonadism
GnRH
POU6f2 isoform1
transcription
puberty
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2023.1203542/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2023.1203542/full

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