Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest

2016/08/22 by Yao Xu, Yingli Shi, Jing Fu +15 · 27 citations
Medicine · #Reproductive Biology and Fertility #Prenatal Screening and Diagnostics #Assisted Reproductive Technology and Twin Pregnancy

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

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• Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility
• A comprehensive review for defining cut-off values of oocyte, zygote, and embryo maturation arrest (OZEMA) due to maternal-effect genes: towards the establishment of clinical criteria
• Role for PADI6 in securing the mRNA-MSY2 complex to the oocyte cytoplasmic lattices. [europepmc]
• Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming. [europepmc]
• Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring. [europepmc]
• Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles. [europepmc]
• Genetics of human female infertility†. [europepmc]
• Novel compound heterozygous mutations in WEE2 causes female infertility and fertilization failure. [europepmc]
• New biallelic mutations in PADI6 cause recurrent preimplantation embryonic arrest characterized by direct cleavage. [europepmc]
• A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation. [europepmc]
• Expanding the genetic and phenotypic spectrum of female infertility caused by TLE6 mutations. [europepmc]
• Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest. [europepmc]
• Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility. [europepmc]
• Biallelic mutations in CDC20 cause female infertility characterized by abnormalities in oocyte maturation and early embryonic development. [europepmc]
• 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]