Article
BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein.
Human mutation - 1 May 2009
Rossetti Raffaella, Di Pasquale Elisa, Marozzi Anna, Bione Silvia, Toniolo Daniela, Grammatico Paola, Nelson Lawrence M, Beck-Peccoz Paolo, Persani Luca
Abstract excerpt
Bone morphogenetic protein-15 (BMP15) is selectively synthesized by oocytes as a pre-proprotein and is considered an ovarian follicle organizer whose adequate function is critical for female fertility. Missense mutations were reported in primary ovarian insufficiency (POI) but their biological impact remained unexplored. Here, screening of 300 unrelated idiopathic overt POI women with primary or secondary...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
