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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.
Human and mouse ZFY genes produce a conserved testis-specific transcript encoding a zinc finger protein with a short acidic domain and modified transactivation potential.
Decarpentrie F, Vernet N, Mahadevaiah SK, Longepied G, Streichemberger E, Aknin-Seifer I, Ojarikre OA, Burgoyne PS, Metzler-Guillemain C, Mitchell MJ. Decarpentrie F, et al. Hum Mol Genet. 2012 Jun 15;21(12):2631-45. doi: 10.1093/hmg/dds088. Epub 2012 Mar 9. Hum Mol Genet. 2012. PMID: 22407129 Free PMC article.
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.
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.
56 results