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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. Among authors: mitchell mj. EMBO Mol Med. 2017 Aug;9(8):1132-1149. doi: 10.15252/emmm.201607461. EMBO Mol Med. 2017. PMID: 28554943 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.
Homozygous deletion of SUN5 in three men with decapitated spermatozoa.
Elkhatib RA, Paci M, Longepied G, Saias-Magnan J, Courbière B, Guichaoua MR, Lévy N, Metzler-Guillemain C, Mitchell MJ. Elkhatib RA, et al. Among authors: mitchell mj. Hum Mol Genet. 2017 Aug 15;26(16):3167-3171. doi: 10.1093/hmg/ddx200. Hum Mol Genet. 2017. PMID: 28541472
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. Among authors: mitchell mj. 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.
Abnormal retention of nuclear lamina and disorganization of chromatin-related proteins in spermatozoa from DPY19L2-deleted globozoospermic patients.
Paci M, Elkhatib R, Longepied G, Hennebicq S, Bessonat J, Courbière B, Bourgeois P, Levy N, Mitchell MJ, Metzler-Guillemain C. Paci M, et al. Among authors: mitchell mj. Reprod Biomed Online. 2017 Nov;35(5):562-570. doi: 10.1016/j.rbmo.2017.07.013. Epub 2017 Aug 4. Reprod Biomed Online. 2017. PMID: 28882431
HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation.
Kichine E, Rozé V, Di Cristofaro J, Taulier D, Navarro A, Streichemberger E, Decarpentrie F, Metzler-Guillemain C, Lévy N, Chiaroni J, Paquis-Flucklinger V, Fellmann F, Mitchell MJ. Kichine E, et al. Among authors: mitchell mj. Hum Reprod. 2012 Feb;27(2):615-24. doi: 10.1093/humrep/der421. Epub 2011 Dec 8. Hum Reprod. 2012. PMID: 22158087
353 results