ArticleJournal of assisted reproduction and genetics2021
Novel WEE2 compound heterozygous mutations identified in patients with fertilization failure or poor fertilization.
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 14 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Pooled it
- Wee Kinases, Big Impact: Wee and Myt Kinases as Critical Regulators of Meiotic Progression.Journal of developmental biology · 2026Review
- A comprehensive review for defining cut-off values of oocyte, zygote, and embryo maturation arrest (OZEMA) due to maternal-effect genes: towards the establishment of clinical criteria.Human reproduction (Oxford, England) · 2026Review
- The efficacy of ionomycin - induced artificial oocyte activation in preventing fertilization failure in an ICSI cycle: an eight - year retrospective study.Journal of ovarian research · 2025Article
- Novel homozygous variants in ASTL and WEE2 responsible for female infertility characterized by abnormal fertilization.Journal of assisted reproduction and genetics · 2025Article
- 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
- Association of WEE2 Gene Polymorphism with Fertilization Failure in Women Undergoing Intracytoplasmic Sperm Injection.International journal of women's health · 2025Article
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- Novel splicing mutations in PATL2 and WEE2 cause oocyte degradation and fertilization failure.Journal of assisted reproduction and genetics · 2024Article
- Advances in the study of genetic factors and clinical interventions for fertilization failure.Journal of assisted reproduction and genetics · 2023Review
- Predicting the unexpected total fertilization failure in conventionalFrontiers in cell and developmental biology · 2023Article
- Review
- Molecular tools for the genomic assessment of oocyte's reproductive competence.Journal of assisted reproduction and genetics · 2022Review
- Gene mutations associated with fertilization failure afterFrontiers in endocrinology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
purposeTo study associations between novel WEE2 mutations and patients with fertilization failure or poor fertilization.
methodsThirty-one Chinese patients who underwent treatment with assisted reproductive technology and suffered from repeated (at least two times) total fertilization failure (TFF) or a low fertilization rate were enrolled. Genomic DNA was extracted from patients for whole-exome sequencing. Suspicious mutations were validated by Sanger sequencing. WEE2 protein levels in oocytes from affected patients were examined by immunofluorescence. Disruptive effects of mutations on WEE2 protein stability, subcellular localization, and kinase function were analyzed through western blotting, immunofluorescence, and flow cytometry in HeLa cells.
resultsThree of thirty-one (9.6%) enrolled patients had six compound heterozygous mutations of the WEE2 gene, and three of them were reported here for the first time (c.115_116insT, c.756_758delTGA, and c.C1459T). Oocytes from affected patients showed decreased WEE2 immunofluorescence signals. In vitro experiments showed that the mutant WEE2 gene caused reduced WEE2 protein levels or cellular compartment translocation in HeLa cells, leading to decreased levels of the phosphorylated Cdc2 protein. Compared with the wild-type WEE2 protein, the mutant WEE2 proteins were also found to have different effects on the cell cycle.
conclusionThree novel compound heterozygous WEE2 variants were found in patients with pronucleus formation failure. This study provides new evidence that WEE2 mutations result in loss of function, which could result in fertilization failure.
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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.