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Page 1
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.
Michel V, Booth KT, Patni P, Cortese M, Azaiez H, Bahloul A, Kahrizi K, Labbé M, Emptoz A, Lelli A, Dégardin J, Dupont T, Aghaie A, Oficjalska-Pham D, Picaud S, Najmabadi H, Smith RJ, Bowl MR, Brown SD, Avan P, Petit C, El-Amraoui A. Michel V, et al. Among authors: aghaie a. EMBO Mol Med. 2017 Dec;9(12):1711-1731. doi: 10.15252/emmm.201708087. EMBO Mol Med. 2017. PMID: 29084757 Free PMC article.
Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.
Sahly I, Dufour E, Schietroma C, Michel V, Bahloul A, Perfettini I, Pepermans E, Estivalet A, Carette D, Aghaie A, Ebermann I, Lelli A, Iribarne M, Hardelin JP, Weil D, Sahel JA, El-Amraoui A, Petit C. Sahly I, et al. Among authors: aghaie a. J Cell Biol. 2012 Oct 15;199(2):381-99. doi: 10.1083/jcb.201202012. Epub 2012 Oct 8. J Cell Biol. 2012. PMID: 23045546 Free PMC article.
Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes.
Delmaghani S, Defourny J, Aghaie A, Beurg M, Dulon D, Thelen N, Perfettini I, Zelles T, Aller M, Meyer A, Emptoz A, Giraudet F, Leibovici M, Dartevelle S, Soubigou G, Thiry M, Vizi ES, Safieddine S, Hardelin JP, Avan P, Petit C. Delmaghani S, et al. Among authors: aghaie a. Cell. 2015 Nov 5;163(4):894-906. doi: 10.1016/j.cell.2015.10.023. Cell. 2015. PMID: 26544938 Free article.
Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment.
Schietroma C, Parain K, Estivalet A, Aghaie A, Boutet de Monvel J, Picaud S, Sahel JA, Perron M, El-Amraoui A, Petit C. Schietroma C, et al. Among authors: aghaie a. J Cell Biol. 2017 Jun 5;216(6):1849-1864. doi: 10.1083/jcb.201612030. Epub 2017 May 11. J Cell Biol. 2017. PMID: 28495838 Free PMC article.
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.
Delmaghani S, Aghaie A, Bouyacoub Y, El Hachmi H, Bonnet C, Riahi Z, Chardenoux S, Perfettini I, Hardelin JP, Houmeida A, Herbomel P, Petit C. Delmaghani S, et al. Among authors: aghaie a. Am J Hum Genet. 2016 Jun 2;98(6):1266-1270. doi: 10.1016/j.ajhg.2016.04.015. Am J Hum Genet. 2016. PMID: 27259055 Free PMC article.
44 results