ArticleJournal of assisted reproduction and genetics2020
Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest.
Article in Journal of assisted reproduction and genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 36 citations in OpenAlex.
- Novel biallelic PATL2 variants causing predominant germinal vesicle arrest and recurrent ART failure: expanded mutational spectrum and evidence-based reproductive counseling guidance.Journal of assisted reproduction and genetics · 2026Article
- Identification of two novel PATL2 variants and transcriptome sequencing reveals their role in oocyte maturation.Journal of ovarian research · 2026Article
- Article
- Compound heterozygous variants inFrontiers in medicine · 2026Article
- Identification of aFrontiers in genetics · 2025Article
- Novel Genetic Variants inInternational journal of medical sciences · 2025Article
- Novel splicing mutations in PATL2 and WEE2 cause oocyte degradation and fertilization failure.Journal of assisted reproduction and genetics · 2024Article
- A novel heterozygous missense variant of PANX1 causes human oocyte death and female infertility.Journal of ovarian research · 2024Article
- Novel PATL2 variants cause female infertility with oocyte maturation defect.Journal of assisted reproduction and genetics · 2024Article
- Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure.Journal of assisted reproduction and genetics · 2024Article
- Improved reproductive outcomes in normogonadotropic oligomenorrheic women undergoing ovarian stimulation with intrauterine insemination: a retrospective cohort analysis of real-world data.Frontiers in endocrinology · 2024Article
- Advances in the study of genetic factors and clinical interventions for fertilization failure.Journal of assisted reproduction and genetics · 2023Review
- Bi-allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility.EMBO molecular medicine · 2023Article
- Prediction of Weight Loss to Decrease the Risk for Type 2 Diabetes Using Multidimensional Data in Filipino Americans: Secondary Analysis.JMIR diabetes · 2023Article
- High carrier frequency of pathogenic PATL2 gene mutations predicted in population: a bioinformatics-based approach.Frontiers in genetics · 2023Article
- Review
- Molecular tools for the genomic assessment of oocyte's reproductive competence.Journal of assisted reproduction and genetics · 2022Review
- GVBD rate is an independent predictor for pregnancy in ICSI patients with surplus immature oocytes.Frontiers in endocrinology · 2022Article
- Oocyte phenotype, genetic diagnosis, and clinical outcome in case of patients with oocyte maturation arrest.Frontiers in endocrinology · 2022Article
- Identification and characterization of a novel homozygous splice site variant ofFrontiers in genetics · 2022Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
purposeTo identify the disease gene in 40 patients with female infertility due to oocyte maturation arrest.
methodsGenomic DNA was extracted from peripheral blood of 40 patients and their family members. Whole-exome sequencing was performed on the patients, and the PATL2 mutations were identified and confirmed by Sanger sequencing. Harmfulness of the mutations was analyzed by SIFT, Polyphen-2, Mutation Taster, and M-CAP software, and we used western immunoblotting analysis to check the effect of mutations on PATL2 protein expression in vitro.
resultsTwo novel missense mutations c.1528C>A (p.Pro510Thr) and c.1376C>A (p.Ser459Tyr) in PATL2 were identified in three patients (7.5%) from two consanguineous families in our cohort. We found that mutations in PATL2 resulted in variable oocyte phenotypes, including GV arrest, MI arrest, and morphologic abnormalities. Western immunoblotting analysis showed that the expression levels of the two novel mutant PATL2 proteins decreased significantly.
conclusionsWe identified two novel PATL2 mutations that caused oocyte maturation arrest and abnormal morphology, and variable phenotypes in patients.
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