Associated Papers
A novel PADI6 splice-site variant induces non-canonical GC-AG splicing and embryonic arrest in humans.
Hu H et al.
Functional & Integrative Genomics, 2025
Structural insight into the function of human peptidyl arginine deiminase 6.
Williams JPC et al.
Computational and Structural Biotechnology Journal, 2024
Advances in the genetic etiology of female infertility.
Gu R et al.
Journal of Assisted Reproduction and Genetics, 2024
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
PADI6: What we know about the elusive fifth member of the peptidyl arginine deiminase family.
Williams JPC et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023
Genetic variants underlying developmental arrests in human preimplantation embryos.
Ozturk S
Molecular Human Reproduction, 2023
A novel homozygous variant in PADI6 is associate with human cleavage-stage embryonic arrest.
Cao G et al.
Frontiers in Genetics, 2023
Gene mutations impede oocyte maturation, fertilization, and early embryonic development.
Fei CF et al.
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2022
Novel biallelic mutations in PADI6 in patients with early embryonic arrest.
Dong J et al.
Journal of Human Genetics, 2022
DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting.
Anvar Z et al.
Genes, 2021
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.
Cubellis MV et al.
Clinical Epigenetics, 2020
New biallelic mutations in PADI6 cause recurrent preimplantation embryonic arrest characterized by direct cleavage.
Zheng W et al.
Journal of Assisted Reproduction and Genetics, 2020
Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles.
Qian J et al.
European Journal of Human Genetics : Ejhg, 2018