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Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.
Ben Khelifa M, Coutton C, Zouari R, Karaouzène T, Rendu J, Bidart M, Yassine S, Pierre V, Delaroche J, Hennebicq S, Grunwald D, Escalier D, Pernet-Gallay K, Jouk PS, Thierry-Mieg N, Touré A, Arnoult C, Ray PF. Ben Khelifa M, et al. Among authors: escalier d. Am J Hum Genet. 2014 Jan 2;94(1):95-104. doi: 10.1016/j.ajhg.2013.11.017. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360805 Free PMC article.
MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.
Coutton C, Zouari R, Abada F, Ben Khelifa M, Merdassi G, Triki C, Escalier D, Hesters L, Mitchell V, Levy R, Sermondade N, Boitrelle F, Vialard F, Satre V, Hennebicq S, Jouk PS, Arnoult C, Lunardi J, Ray PF. Coutton C, et al. Among authors: escalier d. Hum Reprod. 2012 Aug;27(8):2549-58. doi: 10.1093/humrep/des160. Epub 2012 May 24. Hum Reprod. 2012. PMID: 22627659
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
Kott E, Duquesnoy P, Copin B, Legendre M, Dastot-Le Moal F, Montantin G, Jeanson L, Tamalet A, Papon JF, Siffroi JP, Rives N, Mitchell V, de Blic J, Coste A, Clement A, Escalier D, Touré A, Escudier E, Amselem S. Kott E, et al. Among authors: escalier d. Am J Hum Genet. 2012 Nov 2;91(5):958-64. doi: 10.1016/j.ajhg.2012.10.003. Am J Hum Genet. 2012. PMID: 23122589 Free PMC article.
Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.
Dirami T, Rode B, Jollivet M, Da Silva N, Escalier D, Gaitch N, Norez C, Tuffery P, Wolf JP, Becq F, Ray PF, Dulioust E, Gacon G, Bienvenu T, Touré A. Dirami T, et al. Among authors: escalier d. Am J Hum Genet. 2013 May 2;92(5):760-6. doi: 10.1016/j.ajhg.2013.03.016. Epub 2013 Apr 11. Am J Hum Genet. 2013. PMID: 23582645 Free PMC article.
The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population.
Dieterich K, Zouari R, Harbuz R, Vialard F, Martinez D, Bellayou H, Prisant N, Zoghmar A, Guichaoua MR, Koscinski I, Kharouf M, Noruzinia M, Nadifi S, Sefiani A, Lornage J, Zahi M, Viville S, Sèle B, Jouk PS, Jacob MC, Escalier D, Nikas Y, Hennebicq S, Lunardi J, Ray PF. Dieterich K, et al. Among authors: escalier d. Hum Mol Genet. 2009 Apr 1;18(7):1301-9. doi: 10.1093/hmg/ddp029. Epub 2009 Jan 15. Hum Mol Genet. 2009. PMID: 19147683
Septins at the annulus of mammalian sperm.
Toure A, Rode B, Hunnicutt GR, Escalier D, Gacon G. Toure A, et al. Among authors: escalier d. Biol Chem. 2011 Aug;392(8-9):799-803. doi: 10.1515/BC.2011.074. Epub 2011 Jul 11. Biol Chem. 2011. PMID: 21740329 Review.
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.
Duquesnoy P, Escudier E, Vincensini L, Freshour J, Bridoux AM, Coste A, Deschildre A, de Blic J, Legendre M, Montantin G, Tenreiro H, Vojtek AM, Loussert C, Clément A, Escalier D, Bastin P, Mitchell DR, Amselem S. Duquesnoy P, et al. Among authors: escalier d. Am J Hum Genet. 2009 Dec;85(6):890-6. doi: 10.1016/j.ajhg.2009.11.008. Am J Hum Genet. 2009. PMID: 19944405 Free PMC article.
Absence of annulus in human asthenozoospermia: case report.
Lhuillier P, Rode B, Escalier D, Lorès P, Dirami T, Bienvenu T, Gacon G, Dulioust E, Touré A. Lhuillier P, et al. Among authors: escalier d. Hum Reprod. 2009 Jun;24(6):1296-303. doi: 10.1093/humrep/dep020. Epub 2009 Feb 15. Hum Reprod. 2009. PMID: 19221096
67 results