ArticleJournal of assisted reproduction and genetics2021
Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development.
Article in Journal of assisted reproduction and genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Role of the PADI family in inflammatory autoimmune diseases and cancers: A systematic review.Frontiers in immunology · 2023Pooled it
- Spontaneous natural conception and live birth in three patients with likely pathogenic variants in TUBB8, ZP2, and ZP3 associated with female subfertility.Journal of ovarian research · 2026Article
- The maternal PADI6-UHRF1-UBE2D complex regulates ubiquitination during oocyte maturation and embryogenesis.Nature structural & molecular biology · 2026Article
- Novel variants in MEI1 cause female infertility characterized by early embryonic arrest and implantation failure.Journal of assisted reproduction and genetics · 2026Article
- Novel mutations in transducin-like enhancer of split 6 cause infertility in women with embryonic arrest.Journal of assisted reproduction and genetics · 2025Article
- The Mammalian Oocyte: A Central Hub for Cellular Reprogramming and Stemness.Stem cells and cloning : advances and applications · 2025Review
- Identification of a novel TLE6 mutation linked to embryonic arrest and limited rescue by mRNA supplementation.Frontiers in medicine · 2025Article
- 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
- Cryo-EM structure of the human subcortical maternal complex and the associated discovery of infertility-associated variants.Nature structural & molecular biology · 2024Article
- Crystal structure of human peptidylarginine deiminase type VI (PAD6) provides insights into its inactivity.IUCrJ · 2024Article
- Proteomic Analysis of Domestic Cat Blastocysts and Their Secretome Produced in an In Vitro Culture System without the Presence of the Zona Pellucida.International journal of molecular sciences · 2024Article
- PADI6: What we know about the elusive fifth member of the peptidyl arginine deiminase family.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2023Review
- NLRP7 participates in the human subcortical maternal complex and its variants cause female infertility characterized by early embryo arrest.Journal of molecular medicine (Berlin, Germany) · 2023Article
- Peptidylarginine deiminase enzymes and citrullinated proteins in female reproductive physiology and associated diseases†.Biology of reproduction · 2022Review
- Review
- A novel homozygous mutation in the PADI6 gene causes early embryo arrest.Reproductive health · 2022Article
- Novel biallelic mutations in PADI6 in patients with early embryonic arrest.Journal of human genetics · 2022Article
- Molecular tools for the genomic assessment of oocyte's reproductive competence.Journal of assisted reproduction and genetics · 2022Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
purposeThis study aims to identify genetic causes of female infertility associated with recurrent failure of assisted reproductive technology (ART) characterized by embryonic developmental arrest.
methodsWe recruited infertile patients from two consanguineous families from the Reproductive Medicine Center of Guizhou Provincial People's Hospital. Peripheral blood was collected for genomic DNA extraction. Two affected individuals and their family members were performed with whole-exome sequencing and Sanger validation in order to identify possible causative genes. For further analyzing the effect of splicing mutation on mRNA integrity in vivo, TLE6 cDNA from the peripheral blood lymphocyte of the affected individual was sequenced. In addition, the possible impact of the pathogenic mutation on the structure and function of the protein were also assessed.
resultsTwo novel homozygous mutations in the peptidylarginine deiminase type VI (PADI6) and the transducin-like enhancer of split 6 (TLE6) genes were identified in the two families. One patient carried the frameshift deletion mutation c.831_832del:p.S278Pfs
conclusionsOur findings expand the mutational spectrum of PADI6 and TLE6 associated with embryonic developmental arrest and deepen our understanding of the genetic causes of infertility with recurrent ART failure.
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