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Page 1
DPY19L2 deletion as a major cause of globozoospermia.
Koscinski I, Elinati E, Fossard C, Redin C, Muller J, Velez de la Calle J, Schmitt F, Ben Khelifa M, Ray PF, Kilani Z, Barratt CL, Viville S. Koscinski I, et al. Among authors: elinati e. Am J Hum Genet. 2011 Mar 11;88(3):344-50. doi: 10.1016/j.ajhg.2011.01.018. Am J Hum Genet. 2011. PMID: 21397063 Free PMC article.
Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.
Elinati E, Kuentz P, Redin C, Jaber S, Vanden Meerschaut F, Makarian J, Koscinski I, Nasr-Esfahani MH, Demirol A, Gurgan T, Louanjli N, Iqbal N, Bisharah M, Pigeon FC, Gourabi H, De Briel D, Brugnon F, Gitlin SA, Grillo JM, Ghaedi K, Deemeh MR, Tanhaei S, Modarres P, Heindryckx B, Benkhalifa M, Nikiforaki D, Oehninger SC, De Sutter P, Muller J, Viville S. Elinati E, et al. Hum Mol Genet. 2012 Aug 15;21(16):3695-702. doi: 10.1093/hmg/dds200. Epub 2012 May 31. Hum Mol Genet. 2012. PMID: 22653751
Autosomal mutations and human spermatogenic failure.
El Inati E, Muller J, Viville S. El Inati E, et al. Biochim Biophys Acta. 2012 Dec;1822(12):1873-9. doi: 10.1016/j.bbadis.2012.07.006. Epub 2012 Jul 27. Biochim Biophys Acta. 2012. PMID: 22841926 Free article. Review.
A new mutation identified in SPATA16 in two globozoospermic patients.
ElInati E, Fossard C, Okutman O, Ghédir H, Ibala-Romdhane S, Ray PF, Saad A, Hennebicq S, Viville S. ElInati E, et al. J Assist Reprod Genet. 2016 Jun;33(6):815-20. doi: 10.1007/s10815-016-0715-3. Epub 2016 Apr 16. J Assist Reprod Genet. 2016. PMID: 27086357 Free PMC article.
Mammalian meiotic silencing exhibits sexually dimorphic features.
Cloutier JM, Mahadevaiah SK, ElInati E, Tóth A, Turner J. Cloutier JM, et al. Among authors: elinati e. Chromosoma. 2016 Jun;125(2):215-26. doi: 10.1007/s00412-015-0568-z. Epub 2015 Dec 28. Chromosoma. 2016. PMID: 26712235 Free PMC article.
ATR is a multifunctional regulator of male mouse meiosis.
Widger A, Mahadevaiah SK, Lange J, ElInati E, Zohren J, Hirota T, Pacheco S, Maldonado-Linares A, Stanzione M, Ojarikre O, Maciulyte V, de Rooij DG, Tóth A, Roig I, Keeney S, Turner JMA. Widger A, et al. Among authors: elinati e. Nat Commun. 2018 Jul 5;9(1):2621. doi: 10.1038/s41467-018-04850-0. Nat Commun. 2018. PMID: 29976923 Free PMC article.
SETDB1 Links the Meiotic DNA Damage Response to Sex Chromosome Silencing in Mice.
Hirota T, Blakeley P, Sangrithi MN, Mahadevaiah SK, Encheva V, Snijders AP, ElInati E, Ojarikre OA, de Rooij DG, Niakan KK, Turner JMA. Hirota T, et al. Among authors: elinati e. Dev Cell. 2018 Dec 3;47(5):645-659.e6. doi: 10.1016/j.devcel.2018.10.004. Epub 2018 Nov 1. Dev Cell. 2018. PMID: 30393076 Free PMC article.
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