Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

A Maternal Functional Module in the Mammalian Oocyte-To-Embryo Transition

(2017) Xukun Lu et al.   TRENDS IN MOLECULAR MEDICINE

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest

(2016) Yao Xu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The human knockout phenotype ofPADI6is female sterility caused by cleavage failure of their fertilized eggs

(2016) S. Maddirevula et al.   CLINICAL GENETICS

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

(2015) Louise E. Docherty et al.   Nature Communications

NLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton

(2014) Elie Akoury et al.   HUMAN REPRODUCTION

Comprehensive genotype–phenotype correlations betweenNLRP7mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation

(2014) Ngoc Minh Phuong Nguyen et al.   JOURNAL OF MEDICAL GENETICS

Identification of a human subcortical maternal complex

(2014) K. Zhu et al.   MOLECULAR HUMAN REPRODUCTION

Recurrent Pregnancy Loss in a Woman With NLRP7 Mutation

(2013) Lucia Brown et al.   INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY

Histopathological features of biparental complete hydatidiform moles in women with NLRP7 mutations

(2012) N.J. Sebire et al.   PLACENTA

Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte

(2011) David A. Parry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A strong founder effect for twoNLRP7mutations in the Indian population: an intriguing observation

(2009) R Slim et al.   CLINICAL GENETICS

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

(2009) Esther Meyer et al.   PLoS Genetics

Role for PADI6 and the cytoplasmic lattices in ribosomal storage in oocytes and translational control in the early mouse embryo

(2008) P. Yurttas et al.   DEVELOPMENT

A Subcortical Maternal Complex Essential for Preimplantation Mouse Embryogenesis

(2008) Lei Li et al.   DEVELOPMENTAL CELL