Mirna Mustapha

Publications

• Genetic background of Prop1(df) mutants provides remarkable protection against hypothyroidism-induced hearing impairment. Fang Q, Giordimaina AM, Dolan DF, Camper SA, Mustapha M. J Assoc Res Otolaryngol. 2012; 13 (2): 173-84
• High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects. Ben Saïd M, Hmani-Aifa M, Amar I, Baig SM, Mustapha M, Delmaghani S, Tlili A, Ghorbel A, Ayadi H, Van Camp G, Smith RJ, Tekin M, Masmoudi S. Genet Test Mol Biomarkers. 2010; 14 (3): 307-11
• Deafness and permanently reduced potassium channel gene expression and function in hypothyroid Pit1dw mutants. Mustapha M, Fang Q, Gong TW, Dolan DF, Raphael Y, Camper SA, Duncan RK. J Neurosci. 2009; 29 (4): 1212-23
• Complexity and integration in the control of inner-ear development. Swiderski DL, Gong TW, Mustapha M. Genome Biol. 2007; 8 (9): 315
• Whirler mutant hair cells have less severe pathology than shaker 2 or double mutants. Mustapha M, Beyer LA, Izumikawa M, Swiderski DL, Dolan DF, Raphael Y, Camper SA. J Assoc Res Otolaryngol. 2007; 8 (3): 329-37
• Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS, Perfettini I, Parkinson N, Mallon AM, Glenister P, Rogers MJ, Paige AJ, Moir L, Clay J, Rosenthal A, Liu XZ, Blanco G, Steel KP, Petit C, Brown SD. Nat Genet. 2003; 34 (4): 421-8
• Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C. Hum Mol Genet. 2003; 12 (5): 463-71
• 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. Hum Genet. 2002; 110 (4): 348-50
• DFNB21. Denoyelle F, Mustapha M, Petit C. Adv Otorhinolaryngol. 2002: 61 153-5
• DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34. Mustapha M, Chouery E, Chardenoux S, Naboulsi M, Paronnaud J, Lemainque A, Mégarbané A, Loiselet J, Weil D, Lathrop M, Petit C. Eur J Hum Genet. 2002; 10 (3): 210-2
• Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations. Medlej-Hashim M, Mustapha M, Chouery E, Weil D, Parronaud J, Salem N, Delague V, Loiselet J, Lathrop M, Petit C, Mégarbané A. Eur J Hum Genet. 2002; 10 (6): 391-4
• 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. Proc Natl Acad Sci U S A. 2002; 99 (9): 6240-5
• Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene. Mustapha M, Salem N, Delague V, Chouery E, Ghassibeh M, Rai M, Loiselet J, Petit C, Mégarbané A. J Med Genet. 2001; 38 (10): E36
• Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family. Mégarbané A, Mustapha M, Bleik J, Waked N, Delague V, Loiselet J. Clin Genet. 2000; 58 (6): 473-8
• A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C. Nat Genet. 1999; 21 (4): 363-9
• An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Mustapha M, Weil D, Chardenoux S, Elias S, El-Zir E, Beckmann JS, Loiselet J, Petit C. Hum Mol Genet. 1999; 8 (3): 409-12
• Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness. Mustapha M, Salem N, Weil D, el-Zir E, Loiselet J, Petit C. Eur J Hum Genet. 1998 Nov-Dec; 6 (6): 548-51
• A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36. Mustapha M, Chardenoux S, Nieder A, Salem N, Weissenbach J, el-Zir E, Loiselet J, Petit C. Eur J Hum Genet. 1998 May-Jun; 6 (3): 245-50
• Further refinement of Pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425. Mustapha M, Azar ST, Moglabey YB, Saouda M, Zeitoun G, Loiselet J, Slim R. J Med Genet. 1998; 35 (3): 202-4
• The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region. Saouda M, Mansour A, Bou Moglabey Y, El Zir E, Mustapha M, Chaib H, Nehmé A, Mégarbané A, Loiselet J, Petit C, Slim R. Hum Genet. 1998; 103 (2): 193-8
• Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dodé C, Marlin S, Boulila-ElGaïed A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir E, Aubois A, Joannard A, Levilliers J, Garabédian EN, Mueller RF, Gardner RJ, Petit C. Hum Mol Genet. 1997; 6 (12): 2173-7