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Dpy19l2-deficient globozoospermic sperm display altered genome packaging and DNA damage that compromises the initiation of embryo development.
Yassine S, Escoffier J, Martinez G, Coutton C, Karaouzène T, Zouari R, Ravanat JL, Metzler-Guillemain C, Lee HC, Fissore R, Hennebicq S, Ray PF, Arnoult C. Yassine S, et al. Mol Hum Reprod. 2015 Feb;21(2):169-85. doi: 10.1093/molehr/gau099. Epub 2014 Oct 29. Mol Hum Reprod. 2015. PMID: 25354700 Free PMC article.
Polyploidy in large-headed sperm: FISH study of three cases.
Devillard F, Metzler-Guillemain C, Pelletier R, DeRobertis C, Bergues U, Hennebicq S, Guichaoua M, Sèle B, Rousseaux S. Devillard F, et al. Hum Reprod. 2002 May;17(5):1292-8. doi: 10.1093/humrep/17.5.1292. Hum Reprod. 2002. PMID: 11980754
Subcellular localization of phospholipase Cζ in human sperm and its absence in DPY19L2-deficient sperm are consistent with its role in oocyte activation.
Escoffier J, Yassine S, Lee HC, Martinez G, Delaroche J, Coutton C, Karaouzène T, Zouari R, Metzler-Guillemain C, Pernet-Gallay K, Hennebicq S, Ray PF, Fissore R, Arnoult C. Escoffier J, et al. Mol Hum Reprod. 2015 Feb;21(2):157-68. doi: 10.1093/molehr/gau098. Epub 2014 Oct 29. Mol Hum Reprod. 2015. PMID: 25354701 Free PMC article.
Single gene defects leading to sperm quantitative anomalies.
Mitchell MJ, Metzler-Guillemain C, Toure A, Coutton C, Arnoult C, Ray PF. Mitchell MJ, et al. Clin Genet. 2017 Feb;91(2):208-216. doi: 10.1111/cge.12900. Epub 2016 Nov 22. Clin Genet. 2017. PMID: 27779755 Review.
SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.
Kherraf ZE, Christou-Kent M, Karaouzene T, Amiri-Yekta A, Martinez G, Vargas AS, Lambert E, Borel C, Dorphin B, Aknin-Seifer I, Mitchell MJ, Metzler-Guillemain C, Escoffier J, Nef S, Grepillat M, Thierry-Mieg N, Satre V, Bailly M, Boitrelle F, Pernet-Gallay K, Hennebicq S, Fauré J, Bottari SP, Coutton C, Ray PF, Arnoult C. Kherraf ZE, et al. EMBO Mol Med. 2017 Aug;9(8):1132-1149. doi: 10.15252/emmm.201607461. EMBO Mol Med. 2017. PMID: 28554943 Free PMC article.
60 results