Varaico: Literature-Extracted Genetic Variants

Gene:PLCZ1
Variant:p.I489F
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PLCZ1

NM_033123.4:p.I489F

Associated Papers

Phospholipase Cζ, the Molecular Spark of Fertilization and Male Infertility: Insights from Bench to Bedside.

Kaltsas A et al.

Medicina (kaunas, Lithuania), 2025

Structural Implications of H233L and H398P Mutations in Phospholipase Cζ: A Full-Atom Molecular Dynamics Study on Infertility-Associated Dysfunctions.

Hinostroza F et al.

International Journal of Molecular Sciences, 2025

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

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

Li Q et al.

Reproduction (cambridge, England), 2024

SPERM FACTORS AND EGG ACTIVATION: Phospholipase C zeta (PLCZ1) and the clinical diagnosis of oocyte activation deficiency.

Jones C et al.

Reproduction (cambridge, England), 2022

SPERM FACTORS AND EGG ACTIVATION: The structure and function relationship of sperm PLCZ1.

Thanassoulas A et al.

Reproduction (cambridge, England), 2022

Gene mutations associated with fertilization failure after in vitro fertilization/intracytoplasmic sperm injection.

Xue Y et al.

Frontiers in Endocrinology, 2022

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

Yuan P et al.

Human Reproduction (oxford, England), 2020

A homozygous nonsense mutation of PLCZ1 cause male infertility with oocyte activation deficiency.

Wang F et al.

Journal of Assisted Reproduction and Genetics, 2020

The identification of novel mutations in PLCZ1 responsible for human fertilization failure and a therapeutic intervention by artificial oocyte activation.

Mu J et al.

Molecular Human Reproduction, 2020

Novel phospholipase C zeta 1 mutations associated with fertilization failures after ICSI.

Torra-Massana M et al.

Human Reproduction (oxford, England), 2019

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

Escoffier J et al.

Human Molecular Genetics, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."