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Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility.
Machev N, Saut N, Longepied G, Terriou P, Navarro A, Levy N, Guichaoua M, Metzler-Guillemain C, Collignon P, Frances AM, Belougne J, Clemente E, Chiaroni J, Chevillard C, Durand C, Ducourneau A, Pech N, McElreavey K, Mattei MG, Mitchell MJ. Machev N, et al. Among authors: levy n. J Med Genet. 2004 Nov;41(11):814-25. doi: 10.1136/jmg.2004.022111. J Med Genet. 2004. PMID: 15520406 Free PMC article.
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: levy n. Hum Reprod. 2012 Feb;27(2):615-24. doi: 10.1093/humrep/der421. Epub 2011 Dec 8. Hum Reprod. 2012. PMID: 22158087
Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men.
Auguste Y, Delague V, Desvignes JP, Longepied G, Gnisci A, Besnier P, Levy N, Beroud C, Megarbane A, Metzler-Guillemain C, Mitchell MJ. Auguste Y, et al. Among authors: levy n. Am J Hum Genet. 2018 Sep 6;103(3):413-420. doi: 10.1016/j.ajhg.2018.07.013. Epub 2018 Aug 16. Am J Hum Genet. 2018. PMID: 30122541 Free PMC article.
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: levy n. Hum Mol Genet. 2017 Aug 15;26(16):3167-3171. doi: 10.1093/hmg/ddx200. Hum Mol Genet. 2017. PMID: 28541472
1,118 results