A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks

BACKGROUND: Primary Ovarian Insufficiency (POI), a major cause of infertility, affects about 1–3% of women under forty years of age. Although there is a growing list of causal genetic alterations, POI remains mostly idiopathic. METHODS: We performed exome sequencing (WES) of two sisters affected wit...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:EBioMedicine
Asıl Yazarlar: Caburet, Sandrine, Todeschini, Anne-Laure, Petrillo, Cynthia, Martini, Emmanuelle, Farran, Nada D., Legois, Bérangère, Livera, Gabriel, Younis, Johnny S., Shalev, Stavit, Veitia, Reiner A.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2019
Konular:
Research paper
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6491878/
https://ncbi.nlm.nih.gov/pubmed/31000419
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebiom.2019.03.075
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