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Year Number of Results
2013 1
2014 1
2016 1
2018 3
2019 4
2020 2
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Page 1
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: el khouri e. Nat Commun. 2018 Feb 15;9(1):686. doi: 10.1038/s41467-017-02792-7. Nat Commun. 2018. PMID: 29449551 Free PMC article.
NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.
Louvrier C, Assrawi E, El Khouri E, Melki I, Copin B, Bourrat E, Lachaume N, Cador-Rousseau B, Duquesnoy P, Piterboth W, Awad F, Jumeau C, Legendre M, Grateau G, Georgin-Lavialle S, Karabina SA, Amselem S, Giurgea I. Louvrier C, et al. Among authors: el khouri e. J Allergy Clin Immunol. 2020 Apr;145(4):1254-1261. doi: 10.1016/j.jaci.2019.11.035. Epub 2019 Dec 6. J Allergy Clin Immunol. 2020. PMID: 31816408
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. Among authors: el khouri e. 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.
RNF185 is a novel E3 ligase of endoplasmic reticulum-associated degradation (ERAD) that targets cystic fibrosis transmembrane conductance regulator (CFTR).
El Khouri E, Le Pavec G, Toledano MB, Delaunay-Moisan A. El Khouri E, et al. J Biol Chem. 2013 Oct 25;288(43):31177-91. doi: 10.1074/jbc.M113.470500. Epub 2013 Sep 9. J Biol Chem. 2013. PMID: 24019521 Free PMC article.
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. Among authors: el khouri e. Hum Mol Genet. 2018 Apr 1;27(7):1196-1211. doi: 10.1093/hmg/ddy034. Hum Mol Genet. 2018. PMID: 29365104 Clinical Trial.
Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria.
Assrawi E, Louvrier C, Lepelletier C, Georgin-Lavialle S, Bouaziz JD, Awad F, Moinet F, Moguelet P, Vignon-Pennamen MD, Piterboth W, Jumeau C, Cobret L, El Khouri E, Copin B, Duquesnoy P, Legendre M, Grateau G, Karabina SA, Amselem S, Giurgea I. Assrawi E, et al. Among authors: el khouri e. J Invest Dermatol. 2020 Apr;140(4):791-798.e2. doi: 10.1016/j.jid.2019.06.153. Epub 2019 Sep 9. J Invest Dermatol. 2020. PMID: 31513803
Slc26a3 deficiency is associated with epididymis dysplasia and impaired sperm fertilization potential in the mouse.
El Khouri E, Whitfield M, Stouvenel L, Kini A, Riederer B, Lores P, Roemermann D, di Stefano G, Drevet JR, Saez F, Seidler U, Touré A. El Khouri E, et al. Mol Reprod Dev. 2018 Aug;85(8-9):682-695. doi: 10.1002/mrd.23055. Epub 2018 Sep 7. Mol Reprod Dev. 2018. PMID: 30118583
Corrigendum: 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, Khouri EE, 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. Among authors: khouri ee. Hum Mol Genet. 2019 Mar 15;28(6):1052. doi: 10.1093/hmg/ddy368. Hum Mol Genet. 2019. PMID: 30517620 No abstract available.
Functional interaction of the cystic fibrosis transmembrane conductance regulator with members of the SLC26 family of anion transporters (SLC26A8 and SLC26A9): physiological and pathophysiological relevance.
El Khouri E, Touré A. El Khouri E, et al. Int J Biochem Cell Biol. 2014 Jul;52:58-67. doi: 10.1016/j.biocel.2014.02.001. Epub 2014 Feb 14. Int J Biochem Cell Biol. 2014. PMID: 24530837 Review.
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
El Khouri E, Thomas L, Jeanson L, Bequignon E, Vallette B, Duquesnoy P, Montantin G, Copin B, Dastot-Le Moal F, Blanchon S, Papon JF, Lorès P, Yuan L, Collot N, Tissier S, Faucon C, Gacon G, Patrat C, Wolf JP, Dulioust E, Crestani B, Escudier E, Coste A, Legendre M, Touré A, Amselem S. El Khouri E, et al. Am J Hum Genet. 2016 Aug 4;99(2):489-500. doi: 10.1016/j.ajhg.2016.06.022. Am J Hum Genet. 2016. PMID: 27486783 Free PMC article.
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