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Page 1
Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.
Dacheux D, Martinez G, Broster Reix CE, Beurois J, Lores P, Tounkara M, Dupuy JW, Robinson DR, Loeuillet C, Lambert E, Wehbe Z, Escoffier J, Amiri-Yekta A, Daneshipour A, Hosseini SH, Zouari R, Mustapha SFB, Halouani L, Jiang X, Shen Y, Liu C, Thierry-Mieg N, Septier A, Bidart M, Satre V, Cazin C, Kherraf ZE, Arnoult C, Ray PF, Toure A, Bonhivers M, Coutton C. Dacheux D, et al. Among authors: lores p. Elife. 2023 Nov 7;12:RP87698. doi: 10.7554/eLife.87698. Elife. 2023. PMID: 37934199 Free PMC article.
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.
Coutton C, Vargas AS, Amiri-Yekta A, Kherraf ZE, Ben Mustapha SF, Le Tanno P, Wambergue-Legrand C, Karaouzène T, Martinez G, Crouzy S, Daneshipour A, Hosseini SH, Mitchell V, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Deleuze JF, Boland A, Hennebicq S, Satre V, Jouk PS, Thierry-Mieg N, Conne B, Dacheux D, Landrein N, Schmitt A, Stouvenel L, Lorès P, El Khouri E, Bottari SP, Fauré J, Wolf JP, Pernet-Gallay K, Escoffier J, Gourabi H, Robinson DR, Nef S, Dulioust E, Zouari R, Bonhivers M, Touré A, Arnoult C, Ray PF. Coutton C, et al. Among authors: lores p. Nat Commun. 2018 Feb 15;9(1):686. doi: 10.1038/s41467-017-02792-7. Nat Commun. 2018. PMID: 29449551 Free PMC article.
Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.
Dong FN, Amiri-Yekta A, Martinez G, Saut A, Tek J, Stouvenel L, Lorès P, Karaouzène T, Thierry-Mieg N, Satre V, Brouillet S, Daneshipour A, Hosseini SH, Bonhivers M, Gourabi H, Dulioust E, Arnoult C, Touré A, Ray PF, Zhao H, Coutton C. Dong FN, et al. Among authors: lores p. Am J Hum Genet. 2018 Apr 5;102(4):636-648. doi: 10.1016/j.ajhg.2018.03.007. Am J Hum Genet. 2018. PMID: 29606301 Free PMC article.
Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.
Lorès P, Dacheux D, Kherraf ZE, Nsota Mbango JF, Coutton C, Stouvenel L, Ialy-Radio C, Amiri-Yekta A, Whitfield M, Schmitt A, Cazin C, Givelet M, Ferreux L, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Daneshipour A, El Khouri E, Do Cruzeiro M, Favier M, Guillonneau F, Chaudhry M, Sakheli Z, Wolf JP, Patrat C, Gacon G, Savinov SN, Hosseini SH, Robinson DR, Zouari R, Ziyyat A, Arnoult C, Dulioust E, Bonhivers M, Ray PF, Touré A. Lorès P, et al. Am J Hum Genet. 2019 Dec 5;105(6):1148-1167. doi: 10.1016/j.ajhg.2019.10.007. Epub 2019 Nov 14. Am J Hum Genet. 2019. PMID: 31735292 Free PMC article.
A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.
Lorès P, Kherraf ZE, Amiri-Yekta A, Whitfield M, Daneshipour A, Stouvenel L, Cazin C, Cavarocchi E, Coutton C, Llabador MA, Arnoult C, Thierry-Mieg N, Ferreux L, Patrat C, Hosseini SH, Mustapha SFB, Zouari R, Dulioust E, Ray PF, Touré A. Lorès P, et al. Hum Genet. 2021 Jul;140(7):1031-1043. doi: 10.1007/s00439-021-02270-7. Epub 2021 Mar 10. Hum Genet. 2021. PMID: 33689014
Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.
Lorès P, Coutton C, El Khouri E, Stouvenel L, Givelet M, Thomas L, Rode B, Schmitt A, Louis B, Sakheli Z, Chaudhry M, Fernandez-Gonzales A, Mitsialis A, Dacheux D, Wolf JP, Papon JF, Gacon G, Escudier E, Arnoult C, Bonhivers M, Savinov SN, Amselem S, Ray PF, Dulioust E, Touré A. Lorès P, et al. Hum Mol Genet. 2018 Apr 1;27(7):1196-1211. doi: 10.1093/hmg/ddy034. Hum Mol Genet. 2018. PMID: 29365104 Clinical Trial.
Correction to: A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.
Lorès P, Kherraf ZE, Amiri-Yekta A, Whitfield M, Daneshipour A, Stouvenel L, Cazin C, Cavarocchi E, Coutton C, Llabador MA, Arnoult C, Thierry-Mieg N, Ferreux L, Patrat C, Hosseini SH, Mustapha SFB, Zouari R, Dulioust E, Ray PF, Touré A. Lorès P, et al. Hum Genet. 2021 Jul;140(7):1045. doi: 10.1007/s00439-021-02278-z. Hum Genet. 2021. PMID: 33770252 No abstract available.
Identification of IQCH as a calmodulin-associated protein required for sperm motility in humans.
Cavarocchi E, Sayou C, Lorès P, Cazin C, Stouvenel L, El Khouri E, Coutton C, Kherraf ZE, Patrat C, Govin J, Thierry-Mieg N, Whitfield M, Ray PF, Dulioust E, Touré A. Cavarocchi E, et al. Among authors: lores p. iScience. 2023 Jul 10;26(8):107354. doi: 10.1016/j.isci.2023.107354. eCollection 2023 Aug 18. iScience. 2023. PMID: 37520705 Free PMC article.
Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction.
Petre G, Lorès P, Sartelet H, Truffot A, Poreau B, Brandeis S, Martinez G, Satre V, Harbuz R, Ray PF, Amblard F, Devillard F, Vieville G, Berger F, Jouk PS, Vaiman D, Touré A, Coutton C, Bidart M. Petre G, et al. Among authors: lores p. Clin Genet. 2018 Dec;94(6):575-580. doi: 10.1111/cge.13449. Epub 2018 Oct 17. Clin Genet. 2018. PMID: 30221343
43 results