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Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice.
Coutton C, Martinez G, Kherraf ZE, Amiri-Yekta A, Boguenet M, Saut A, He X, Zhang F, Cristou-Kent M, Escoffier J, Bidart M, Satre V, Conne B, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Pernet-Gallay K, Bonhivers M, Hennebicq S, Rives N, Dulioust E, Touré A, Gourabi H, Cao Y, Zouari R, Hosseini SH, Nef S, Thierry-Mieg N, Arnoult C, Ray PF. Coutton C, et al. Among authors: nef s. Am J Hum Genet. 2019 Feb 7;104(2):331-340. doi: 10.1016/j.ajhg.2018.12.013. Epub 2019 Jan 24. Am J Hum Genet. 2019. PMID: 30686508 Free PMC article.
A conserved function of Human DLC3 and Drosophila Cv-c in testis development.
Sotillos S, von der Decken I, Domenech Mercadé I, Srinivasan S, Sirokha D, Livshits L, Vanni S, Nef S, Biason-Lauber A, Rodríguez Gutiérrez D, Castelli-Gair Hombría J. Sotillos S, et al. Among authors: nef s. Elife. 2022 Nov 3;11:e82343. doi: 10.7554/eLife.82343. Elife. 2022. PMID: 36326091 Free PMC article.
Dcp1-bodies in mouse oocytes.
Swetloff A, Conne B, Huarte J, Pitetti JL, Nef S, Vassalli JD. Swetloff A, et al. Among authors: nef s. Mol Biol Cell. 2009 Dec;20(23):4951-61. doi: 10.1091/mbc.e09-02-0123. Epub 2009 Oct 7. Mol Biol Cell. 2009. PMID: 19812249 Free PMC article.
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. Among authors: nef s. 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.
144 results