ArticleJournal of assisted reproduction and genetics2020
A homozygous nonsense mutation of PLCZ1 cause male infertility with oocyte activation deficiency.
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 14 papers, 1 of them a synthesis 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
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Phospholipase C Zeta in Human Spermatozoa: A Systematic Review on Current Development and Clinical Application.International journal of molecular sciences · 2024Pooled it
- PLCZ1 gene mutation leads to fertilization disorder: a case report.JBRA assisted reproduction · 2025Article
- Review
- Genome Editing for Fertility: Unlocking the Promise of CRISPR/Cas9 in Addressing Male Infertility - A Narrative Review.Reproductive sciences (Thousand Oaks, Calif.) · 2025Review
- Effect of Sperm DNA Fragmentation and Chromatin Decondensation on PLCζ Efficacy in Infertile Patients.Current issues in molecular biology · 2025Article
- Phospholipase Cζ, the Molecular Spark of Fertilization and Male Infertility: Insights from Bench to Bedside.Medicina (Kaunas, Lithuania) · 2025Review
- Phospholipase C zeta: a hidden face of sperm for oocyte activation and early embryonic development.Obstetrics & gynecology science · 2024Article
- Novel PLCZ1 mutation caused polyspermy during in vitro fertilization.Asian journal of andrology · 2024Article
- High rate of detected variants in maleHuman reproduction open · 2024Article
- Phospholipase C Zeta 1 (PLCZ1): The Function and Potential for Fertility Assessment and In Vitro Embryo Production in Cattle and Horses.Veterinary sciences · 2023Review
- A novel homozygous mutation in ACTL7A leads to male infertility.Molecular genetics and genomics : MGG · 2023Article
- Plcz1 Deficiency Decreased Fertility in Male Mice Which Is Associated with Sperm Quality Decline and Abnormal Cytoskeleton in Epididymis.International journal of molecular sciences · 2022Article
- Gene mutations associated with fertilization failure afterFrontiers in endocrinology · 2022Review
- Diagnosis and Treatment of Male Infertility-Related Fertilization Failure.Journal of clinical medicine · 2020Review
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
Abstract
purposeTo identify the pathogenic PLCZ1 mutation involved in male infertility and fertilization failure.
methodsAll coding regions of PLCZ1 were sequenced by Sanger sequencing. The expression and localization of PLCZ1 in sperm was determined by Western blotting and immunofluorescence. To promote the fertilization rate, the infertile man with PLCZ1 mutation was treated with intracytoplasmic sperm injection (ICSI) accompanied by assisted oocyte activation (AOA) in the following cycle.
resultWe identified a novel homozygous PLCZ1 nonsense mutation, c.588C>A (p.Cys196Ter) in an infertile man from a consanguineous family. No PLCZ1 protein was detected by Western blotting and immunofluorescence in ejaculated sperm from the patient. The treatment of ICSI + AOA avoided fertilization failure but did not result in pregnancy in the following cycle.
conclusionOur study confirmed the essential role of PLCZ1 in fertilization and male fertility, which indicated the potential prognostic value of testing for PLCZ1 mutations in primary infertile men with sperm-derived fertilization failure.
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Registered trials
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