Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice
Published 2021 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice
Authors
Keywords
fertilization failure, poor fertilization, ACTL9, perinuclear theca, PLCζ, male factor, assisted oocyte activation, whole-exome sequencing, mouse model
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 108, Issue 3, Pages 469-481
Publisher
Elsevier BV
Online
2021-02-24
DOI
10.1016/j.ajhg.2021.02.004
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Essential Role of Sperm-Specific PLC-Zeta in Egg Activation and Male Factor Infertility: An Update
- (2020) Alaaeldin Saleh et al. Frontiers in Cell and Developmental Biology
- Disruption in ACTL7A causes acrosomal ultrastructural defects in human and mouse sperm as a novel male factor inducing early embryonic arrest
- (2020) Aijie Xin et al. Science Advances
- Novel phospholipase C zeta 1 mutations associated with fertilization failures after ICSI
- (2019) Marc Torra-Massana et al. HUMAN REPRODUCTION
- Novel homozygous variations in PLCZ1 lead to poor or failed fertilization characterized by abnormal localization patterns of PLCζ in sperm
- (2019) Jing Dai et al. CLINICAL GENETICS
- Mechanism of Acrosome Biogenesis in Mammals
- (2019) Muhammad Babar Khawar et al. Frontiers in Cell and Developmental Biology
- Novel mutations in PLCZ1 cause male infertility due to fertilization failure or poor fertilization
- (2019) Zheng Yan et al. HUMAN REPRODUCTION
- Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility
- (2018) Qing Sang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Expression of sperm PLCζ and clinical outcomes of ICSI-AOA in men affected by globozoospermia due to DPY19L2 deletion
- (2018) Marziyeh Tavalaee et al. REPRODUCTIVE BIOMEDICINE ONLINE
- New Insights into the Molecular Events of Mammalian Fertilization
- (2018) Yuhkoh Satouh et al. TRENDS IN BIOCHEMICAL SCIENCES
- The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility
- (2018) Biaobang Chen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Polar body transfer restores the developmental potential of oocytes to blastocyst stage in a case of repeated embryo fragmentation
- (2017) Shuo-Ping Zhang et al. JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
- Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP
- (2015) Jessica Escoffier et al. HUMAN MOLECULAR GENETICS
- Another look at human sperm morphology
- (2015) J. Auger et al. HUMAN REPRODUCTION
- Total fertilization failure: is it the end of the story?
- (2014) Inci Kahyaoglu et al. JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
- Subcellular localization of phospholipase Cζ in human sperm and its absence in DPY19L2-deficient sperm are consistent with its role in oocyte activation
- (2014) Jessica Escoffier et al. MOLECULAR HUMAN REPRODUCTION
- Starting a new life: Sperm PLC-zeta mobilizes the Ca2+ signal that induces egg activation and embryo development
- (2011) Michail Nomikos et al. BIOESSAYS
- A maternally inherited autosomal point mutation in human phospholipase C zeta (PLC ) leads to male infertility
- (2011) J. Kashir et al. HUMAN REPRODUCTION
- Molecular Recognition of the Tes LIM2–3 Domains by the Actin-related Protein Arp7A
- (2011) Batiste Boëda et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Oocyte activation, phospholipase C zeta and human infertility
- (2010) J. Kashir et al. HUMAN REPRODUCTION UPDATE
- Efficiency of assisted oocyte activation as a solution for failed intracytoplasmic sperm injection
- (2010) Björn Heindryckx et al. REPRODUCTIVE BIOMEDICINE ONLINE
- New technique for mouse oocyte injection via a modified holding pipette
- (2010) Q.F. Lyu et al. REPRODUCTIVE BIOMEDICINE ONLINE
- Artificial oocyte activation and intracytoplasmic sperm injection
- (2009) Mohammad Hossein Nasr-Esfahani et al. FERTILITY AND STERILITY
- World Health Organization reference values for human semen characteristics*‡
- (2009) Trevor G. Cooper et al. HUMAN REPRODUCTION UPDATE
- Nuclear localization of profilin III-ArpM1 complex in mouse spermiogenesis
- (2008) Yuki Hara et al. FEBS LETTERS
- Human sperm devoid of PLC, zeta 1 fail to induce Ca2+ release and are unable to initiate the first step of embryo development
- (2008) Sook-Young Yoon et al. JOURNAL OF CLINICAL INVESTIGATION
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started