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A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.
Mustapha M, Chouery E, Torchard-Pagnez D, Nouaille S, Khrais A, Sayegh FN, Mégarbané A, Loiselet J, Lathrop M, Petit C, Weil D. Mustapha M, et al. Among authors: nouaille s. Hum Genet. 2002 Apr;110(4):348-50. doi: 10.1007/s00439-002-0690-x. Epub 2002 Mar 12. Hum Genet. 2002. PMID: 11941484
Unconventional myosin VIIA is a novel A-kinase-anchoring protein.
Küssel-Andermann P, El-Amraoui A, Safieddine S, Hardelin JP, Nouaille S, Camonis J, Petit C. Küssel-Andermann P, et al. Among authors: nouaille s. J Biol Chem. 2000 Sep 22;275(38):29654-9. doi: 10.1074/jbc.M004393200. J Biol Chem. 2000. PMID: 10889203 Free article.
Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.
Zwaenepoel I, Mustapha M, Leibovici M, Verpy E, Goodyear R, Liu XZ, Nouaille S, Nance WE, Kanaan M, Avraham KB, Tekaia F, Loiselet J, Lathrop M, Richardson G, Petit C. Zwaenepoel I, et al. Among authors: nouaille s. Proc Natl Acad Sci U S A. 2002 Apr 30;99(9):6240-5. doi: 10.1073/pnas.082515999. Epub 2002 Apr 23. Proc Natl Acad Sci U S A. 2002. PMID: 11972037 Free PMC article.
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G.
Emptoz A, Michel V, Lelli A, Akil O, Boutet de Monvel J, Lahlou G, Meyer A, Dupont T, Nouaille S, Ey E, Franca de Barros F, Beraneck M, Dulon D, Hardelin JP, Lustig L, Avan P, Petit C, Safieddine S. Emptoz A, et al. Among authors: nouaille s. Proc Natl Acad Sci U S A. 2017 Sep 5;114(36):9695-9700. doi: 10.1073/pnas.1708894114. Epub 2017 Aug 23. Proc Natl Acad Sci U S A. 2017. PMID: 28835534 Free PMC article.
45 results