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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938616/
https://www.ncbi.nlm.nih.gov/pubmed/29661911
http://dx.doi.org/10.15252/emmm.201708515

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