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Article

A maternally inherited autosomal point mutation in human phospholipase C zeta (PLCζ) leads to male infertility.

Human reproduction (Oxford, England) - 1 Jan 2012

Kashir Junaid, Konstantinidis Michalis, Jones Celine, Lemmon Bernadette, Lee Hoi Chang, Hamer Rebecca, Heindryckx Bjorn, Deane Charlotte M, De Sutter Petra, Fissore Rafael A, Parrington John, Wells Dagan, Coward Kevin

Abstract excerpt

BACKGROUND: Male factor and idiopathic infertility contribute significantly to global infertility, with abnormal testicular gene expression considered to be a major cause. Certain types of male infertility are caused by failure of the sperm to activate the oocyte, a process normally regulated by...

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Share to Calcium
Share to Infertility, Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Oocytes

Share to Phosphoinositide Phospholipase C

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Share to RNA, Complementary

Share to Sequence Analysis, DNA

Source

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Identifiers

PMID: 22095789
DOI: 10.1093/humrep/der384
PMCID: PMC3241606

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22095789-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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A maternally inherited autosomal point mutation in human phospholipase C zeta (PLCζ) leads to male infertility.PMID 22095789Read ↗

Pathogenic homozygous PLCZ1 mutation reduces sperm protein levels with a simulated reduction of PIP2 binding: a case report.Semantic proximity Read ↗

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A novel homozygous mutation of phospholipase C zeta leading to defective human oocyte activation and fertilization failure.Semantic proximity Read ↗

Phospholipase C zeta (PLCζ) and male infertility: Clinical update and topical developments.Semantic proximity Read ↗

Novel mutations in PLCZ1 cause male infertility due to fertilization failure or poor fertilization.Semantic proximity Read ↗

Loss of activity mutations in phospholipase C zeta (PLCζ) abolishes calcium oscillatory ability of human recombinant protein in mouse oocytes.Semantic proximity Read ↗

Essential Role of Sperm-Specific PLC-Zeta in Egg Activation and Male Factor Infertility: An UpdateSemantic proximity Read ↗

Characterization of two heterozygous mutations of the oocyte activation factor phospholipase C zeta (PLCζ) from an infertile man by use of minisequencing of individual sperm and expression in somatic cells.Semantic proximity Read ↗

Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP.Semantic proximity Read ↗

Oocyte activation and phospholipase C zeta (PLCζ): diagnostic and therapeutic implications for assisted reproductive technologySemantic proximity Read ↗

Novel PLCZ1 compound heterozygous mutations indicate gene dosage effect involved in total fertilisation failure after ICSI.Semantic proximity Read ↗

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