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PubMed (cited) for id: 617214
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ACROSIN deficiency causes total fertilization failure in humans by preventing the sperm from penetrating the zona pellucida.
Hum Reprod. 2023 Jun 1;38(6):1213-1223. doi: 10.1093/humrep/dead059.
Hum Reprod. 2023.
PMID: 37004249
Novel variants in ACTL7A and PLCZ1 are associated with male infertility and total fertilization failure.
Zhao S, Cui Y, Guo S, Liu B, Bian Y, Zhao S, Chen Z, Zhao H.
Zhao S, et al.
Clin Genet. 2023 May;103(5):603-608. doi: 10.1111/cge.14293. Epub 2023 Jan 13.
Clin Genet. 2023.
PMID: 36593593
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Novel homozygous variations in PLCZ1 lead to poor or failed fertilization characterized by abnormal localization patterns of PLCζ in sperm.
Dai J, Dai C, Guo J, Zheng W, Zhang T, Li Y, Lu C, Gong F, Lu G, Lin G.
Dai J, et al.
Clin Genet. 2020 Feb;97(2):347-351. doi: 10.1111/cge.13636. Epub 2019 Sep 8.
Clin Genet. 2020.
PMID: 31463947
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Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP.
Escoffier J, Lee HC, Yassine S, Zouari R, Martinez G, Karaouzène T, Coutton C, Kherraf ZE, Halouani L, Triki C, Nef S, Thierry-Mieg N, Savinov SN, Fissore R, Ray PF, Arnoult C.
Escoffier J, et al.
Hum Mol Genet. 2016 Mar 1;25(5):878-91. doi: 10.1093/hmg/ddv617. Epub 2015 Dec 31.
Hum Mol Genet. 2016.
PMID: 26721930
Free PMC article.
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