A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation

BACKGROUND: Maternal effect mutations in the components of the subcortical maternal complex (SCMC) of the human oocyte can cause early embryonic failure, gestational abnormalities and recurrent pregnancy loss. Enigmatically, they are also associated with DNA methylation abnormalities at imprinted ge...

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Detalles Bibliográficos
Autores principales: Demond, Hannah, Anvar, Zahra, Jahromi, Bahia Namavar, Sparago, Angela, Verma, Ankit, Davari, Maryam, Calzari, Luciano, Russo, Silvia, Jahromi, Mojgan Akbarzadeh, Monk, David, Andrews, Simon, Riccio, Andrea, Kelsey, Gavin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6918611/
https://www.ncbi.nlm.nih.gov/pubmed/31847873
http://dx.doi.org/10.1186/s13073-019-0694-y

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