Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s41431-018-0141-3.pdf
Reference20 articles.
1. Murdoch S, Djuric U, Mazhar B, et al. Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet. 2006;38:300–2.
2. Parry DA, Logan CV, Hayward BE, et al. Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte. Am J Hum Genet. 2011;89:451–8.
3. Akoury E, Zhang L, Ao A, Slim R. NLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton. Human Reprod. 2015;30:159–69.
4. Zhu K, Yan L, Zhang X, et al. Identification of a human subcortical maternal complex. Mol Hum Reprod. 2015;21:320–9.
5. Li L, Baibakov B, Dean J. A subcortical maternal complex essential for preimplantation mouse embryogenesis. Dev Cell. 2008;15:416–25.
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