Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest

2016/08/22 by Yao Xu, Yingli Shi, Jing Fu +15 · 256 citations
Medicine · #Andrology #Assisted Reproductive Technology and Twin Pregnancy #Biology #Embryo #Embryogenesis #Embryonic stem cell #Gene #Genetics #In vitro fertilisation #Infertility #Intracytoplasmic sperm injection #Male infertility #Medicine #Phenotype #Pregnancy #Prenatal Screening and Diagnostics #Reproductive Biology and Fertility

paper · pdf · doi:10.1016/j.ajhg.2016.06.024

published in The American Journal of Human Genetics 99(3), 744-752 (Elsevier BV)

openalex publication_date 2016/08/22 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28

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• Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance. [europepmc]
• Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family. [europepmc]
• Genetic factors as potential molecular markers of human oocyte and embryo quality. [europepmc]
• Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development. [europepmc]
• Molecular Drivers of Developmental Arrest in the Human Preimplantation Embryo: A Systematic Review and Critical Analysis Leading to Mapping Future Research. [europepmc]
• DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting. [europepmc]
• Maternal effect genes: Update and review of evidence for a link with birth defects. [europepmc]
• Citrullination in the pathology of inflammatory and autoimmune disorders: recent advances and future perspectives. [europepmc]
• The virtues and vices of protein citrullination. [europepmc]
• Genetics of Oocyte Maturation Defects and Early Embryo Development Arrest. [europepmc]
• PAD4 and Its Inhibitors in Cancer Progression and Prognosis. [europepmc]
• Remodeling of maternal mRNA through poly(A) tail orchestrates human oocyte-to-embryo transition. [europepmc]
• Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects. [europepmc]