PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice

The genetic causes of oocyte meiotic deficiency (OMD), a form of primary infertility characterised by the production of immature oocytes, remain largely unexplored. Using whole exome sequencing, we found that 26% of a cohort of 23 subjects with OMD harboured the same homozygous nonsense pathogenic m...

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Publicat a:EMBO Mol Med
Autors principals: Christou‐Kent, Marie, Kherraf, Zine‐Eddine, Amiri‐Yekta, Amir, Le Blévec, Emilie, Karaouzène, Thomas, Conne, Béatrice, Escoffier, Jessica, Assou, Said, Guttin, Audrey, Lambert, Emeline, Martinez, Guillaume, Boguenet, Magalie, Fourati Ben Mustapha, Selima, Cedrin Durnerin, Isabelle, Halouani, Lazhar, Marrakchi, Ouafi, Makni, Mounir, Latrous, Habib, Kharouf, Mahmoud, Coutton, Charles, Thierry‐Mieg, Nicolas, Nef, Serge, Bottari, Serge P, Zouari, Raoudha, Issartel, Jean Paul, Ray, Pierre F, Arnoult, Christophe
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2018
Matèries:
Research Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5938616/
https://ncbi.nlm.nih.gov/pubmed/29661911
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201708515
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