ArticleAmerican journal of human genetics2017
Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 76 citations in OpenAlex.
- Metaphase I-arrest oocyte with agar-like zona pellucida, abandon or not abandon?Journal of ovarian research · 2026Article
- Identification of novel variants and expansion of the phenotypic spectrum in PATL2, WEE2, and TUBB8 associated with human early embryonic arrest.Journal of assisted reproduction and genetics · 2025Article
- Infertile females with biallelic mutations in APC/C genes are characterized by oocyte or early embryo defects.Journal of assisted reproduction and genetics · 2025Article
- Evaluation of Risk Factors and a Gene Panel as a Tool for Unexplained Infertility Diagnosis by Next-Generation Sequencing.Medicina (Kaunas, Lithuania) · 2025Review
- Novel Genetic Variants inInternational journal of medical sciences · 2025Article
- PATL2 mutations affect human oocyte maternal mRNA homeostasis and protein interactions in cell cycle regulation.Cell & bioscience · 2024Article
- Novel splicing mutations in PATL2 and WEE2 cause oocyte degradation and fertilization failure.Journal of assisted reproduction and genetics · 2024Article
- Identification of a novel mutation inBiochemistry and biophysics reports · 2024Article
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- Genetic factors of oocyte maturation arrest: an important cause for recurrent IVF/ICSI failures.Journal of assisted reproduction and genetics · 2024Article
- Novel PATL2 variants cause female infertility with oocyte maturation defect.Journal of assisted reproduction and genetics · 2024Article
- Reduced PATL2 Impairs the Proliferation of Ovarian Granulosa Cells by Decreasing ADM2 Expression in Patients with PCOS.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Mitochondrial deoxyguanosine kinase is required for female fertility in mice.Acta biochimica et biophysica Sinica · 2024Article
- Homozygous variants in CDC23 cause female infertility characterized by oocyte maturation defects.Human genetics · 2023Article
- Advances in the study of genetic factors and clinical interventions for fertilization failure.Journal of assisted reproduction and genetics · 2023Review
- Biallelic variants ineLife · 2023Article
- Female infertility from oocyte maturation arrest: assembling the genetic puzzle.EMBO molecular medicine · 2023Article
- Bi-allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility.EMBO molecular medicine · 2023Article
- Remodeling of maternal mRNA through poly(A) tail orchestrates human oocyte-to-embryo transition.Nature structural & molecular biology · 2023Article
- Investigating the Effects of Hydro-alcoholic Urtica Dioica Extract and Retinoic Acid on Follicular Development: An Animal Study.Medical journal of the Islamic Republic of Iran · 2023Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Infertility is a relatively common disorder of the reproductive system and remains unexplained in many cases. In vitro fertilization techniques have uncovered previously unrecognized infertility phenotypes, including oocyte maturation arrest, the molecular etiology of which remains largely unknown. We report two families affected by female-limited infertility caused by oocyte maturation failure. Positional mapping and whole-exome sequencing revealed two homozygous, likely deleterious variants in PATL2, each of which fully segregates with the phenotype within the respective family. PATL2 encodes a highly conserved oocyte-specific mRNP repressor of translation. Previous data have shown the strict requirement for PATL2 in oocyte-maturation in model organisms. Data gathered from the families in this study suggest that the role of PATL2 is conserved in humans and expand our knowledge of the factors that are necessary for female meiosis.
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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.