Varaico: Literature-Extracted Genetic Variants

Gene:PLCZ1
Variant:p.H233L
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PLCZ1

NM_033123.4:p.H233L

Associated Papers

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

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

Li Q et al.

Reproduction (cambridge, England), 2024

High rate of detected variants in male PLCZ1 and ACTL7A genes causing failed fertilization after ICSI.

Cardona Barberán A et al.

Human Reproduction Open, 2024

Exonic genetic variants associated with unexpected fertilization failure and zygotic arrest after ICSI: a systematic review.

Torra-Massana M et al.

Zygote (cambridge, England), 2023

Novel mutations in PLCZ1 lead to early embryonic arrest as a male factor.

Lin Y et al.

Frontiers in Cell and Developmental Biology, 2023

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

Genetic variations as molecular diagnostic factors for idiopathic male infertility: current knowledge and future perspectives.

Karimian M et al.

Expert Review of Molecular Diagnostics, 2021

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 mutations in PLCZ1 cause male infertility due to fertilization failure or poor fertilization.

Yan Z et al.

Human Reproduction (oxford, England), 2020

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

Torra-Massana M et al.

Human Reproduction (oxford, England), 2019

Male infertility-linked point mutation reveals a vital binding role for the C2 domain of sperm PLCζ.

Nomikos M et al.

The Biochemical Journal, 2017

PLCζ sequence, protein levels, and distribution in human sperm do not correlate with semen characteristics and fertilization rates after ICSI.

Ferrer-Vaquer A et al.

Journal of Assisted Reproduction and Genetics, 2016

Phospholipase Cζ rescues failed oocyte activation in a prototype of male factor infertility.

Nomikos M et al.

Fertility and Sterility, 2013

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.

Kashir J et al.

Fertility and Sterility, 2012

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

Kashir J et al.

Human Reproduction (oxford, England), 2012

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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."