ArticleEuropean journal of human genetics : EJHG2018
Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
59 citing papers in PubMed, 3 syntheses or guidelines pooled it, 118 citations in OpenAlex.
- Role of the PADI family in inflammatory autoimmune diseases and cancers: A systematic review.Frontiers in immunology · 2023Pooled it
- Molecular Drivers of Developmental Arrest in the Human Preimplantation Embryo: A Systematic Review and Critical Analysis Leading to Mapping Future Research.International journal of molecular sciences · 2021Pooled it
- Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes.Journal of assisted reproduction and genetics · 2019Pooled it
- Pathogenicity assessment of genetic variants in reproductive disorders.Journal of assisted reproduction and genetics · 2026Review
- In-situ cryo-ET of mouse embryos reveals cytoplasmic lattices contain ubiquitin-charged E2-E3 ligase assemblies.The EMBO journal · 2026Article
- Unveiling nuclear localization signals in human arginine deiminase proteins.Protein science : a publication of the Protein Society · 2026Article
- Human YTHDC2 mutations disturb RNA homeostasis of oocytes and early embryos.Human genetics · 2026Article
- TCL1A mediates DNA methylation defects in recurrent hydatidiform mole with NLRP7 pathogenic variants.Nature communications · 2026Article
- The maternal PADI6-UHRF1-UBE2D complex regulates ubiquitination during oocyte maturation and embryogenesis.Nature structural & molecular biology · 2026Article
- The superpowers of imprinting control regions.Genome research · 2026Review
- Genomics of pregnancy loss.Journal of assisted reproduction and genetics · 2026Review
- Case Report: BiallelicFrontiers in genetics · 2026Article
- Variants of NLRP genes encoding subcortical maternal complex components are linked to biparental placental mesenchymal dysplasia.Human genomics · 2025Article
- Placental Protein Citrullination Signatures Are Modified in Early- and Late-Onset Fetal Growth Restriction.International journal of molecular sciences · 2025Article
- Subcortical Maternal Complex in Female Infertility: A Transition from Animal Models to Human Studies.Molecular biology reports · 2025Review
- Whole-Exome Sequencing in Recurrent Pregnancy Loss: Current Evidence and Future Directions in Saudi Arabia.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2025Review
- Novel variants in PADI6 genes cause female infertility due to early embryo arrest.Journal of assisted reproduction and genetics · 2024Article
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- Structural insight into the function of human peptidyl arginine deiminase 6.Computational and structural biotechnology journal · 2024Article
- A novel heterozygous missense variant of PANX1 causes human oocyte death and female infertility.Journal of ovarian research · 2024Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
Abstract
Recurrent hydatidiform moles (RHM) are aberrant human pregnancies characterized by absence of, or abnormal, embryonic development, hydropic degeneration of chorionic villi, and hyperproliferation of the trophoblast. Biallelic mutations in two maternal-effect genes, NLRP7 and KHDC3L, underlie the causation of RHM in 60% of patients. We performed exome sequencing on a patient with six pregnancy losses, two miscarriages and four HM, and found no variants that affect the functions of the known genes. We found biallelic missense variants that affect conserved amino acids in PADI6 and segregate with the disease phenotype in the family. PADI6 is another maternal-effect gene and a member of the subcortical maternal complex that has been shown to have recessive variants that affect the gene function in four unrelated women with infertility who also experienced early embryonic arrest during preimplantation development after IVF. We demonstrated that PADI6 co-localizes with NLRP7 in human oocytes and preimplantation embryos and reviewed the morphology and genotypes of four products of conception from our patient. Our data expand the involvement of PADI6 to other forms of reproductive loss and highlight the commonality between infertility, miscarriages, and molar pregnancies, in some cases.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.