Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism

Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by absent puberty and subsequent infertility due to gonadotropin-releasing hormone (GnRH) deficiency. IHH can be accompanied by normal or compromised olfaction (Kallmann syndrome). Several semaphorins are known potent modulators of GnRH...

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Veröffentlicht in:	Genetics in medicine 2021-06, Vol.23 (6), p.1008-1016
Hauptverfasser:	Kotan, Leman Damla, Ternier, Gaetan, Cakir, Aydilek Dagdeviren, Emeksiz, Hamdi Cihan, Turan, Ihsan, Delpouve, Gaspard, De Kardelen, Asli rya, Ozcabi, Bahar, Isik, Emregul, Mengen, Eda, De Cakir, Esra niz P., Yuksel, Aysegul, Agladioglu, Sebahat Yilmaz, Dilek, Semine Ozdemir, Evliyaoglu, Olcay, Darendeliler, Feyza, Gurbuz, Fatih, Akkus, Gamze, Yuksel, Bilgin, Giacobini, Paolo, Topaloglu, A. Kemal
Format:	Artikel
Sprache:	eng
Schlagworte:	Amenorrhea Biomedical and Life Sciences Biomedicine Cell Adhesion Molecules Cryptorchidism Endocrinology Genes Genetic testing Genomics Health sciences HEK293 Cells Hospitals Human Genetics Humans Hypogonadism - genetics Infertility Laboratory Medicine Medicine Membrane Proteins Nerve Tissue Proteins - genetics Neurons Neurosciences Pathogenesis Pediatrics Plasmids Proteins Puberty Receptors, Cell Surface Semaphorins Signal transduction
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