PUBLICATIONS

Sundaresan S, Kong JH, Fang Q, Salles F, Wangsawihardja F, Ricci AJ, Mustapha M. Thyroid hormone is required for pruning, functioning and long-term maintenance of afferent inner hair cell synapses. Eur J Neurosci. 2015 Sep 19. doi: 10.1111/ejn.13081. [Epub ahead of print] PubMed PMID: 26386265.

Fang Q, Indzhykulian AA, Mustapha M, Riordan GP, Dolan DF, Friedman TB, Belyantseva IA, Frolenkov GI, Camper SA, Bird JE. The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearing. Elife. 2015 Aug 24;4. doi: 10.7554/eLife.08627. [Epub ahead of print] PubMed PMID: 26302205.

Mendus D, Rankin-Gee EK, Mustapha M, Porter BE. Increased sensitivity to kindling in mice lacking TSP1. Neuroscience. 2015 Oct 1;305:302-8. doi:
10.1016/j.neuroscience.2015.07.075. Epub 2015 Aug 1. PubMed PMID: 26241338.

Calton MA, Lee D, Sundaresan S, Mendus D, Leu R, Wangsawihardja F, Johnson KR, Mustapha M. A lack of immune system genes causes loss in high frequency hearing but does not disrupt cochlear synapse maturation in mice. PLoS One. 2014 May 7;9(5):e94549. doi: 10.1371/journal.pone.0094549. eCollection 2014. PubMed PMID: 24804771; PubMed Central PMCID: PMC4012943.

Mendus D, Sundaresan S, Grillet N, Wangsawihardja F, Leu R, Müller U, Jones SM, Mustapha M. Thrombospondins 1 and 2 are important for afferent synapse formation and function in the inner ear. Eur J Neurosci. 2014 Apr;39(8):1256-67. doi: 10.1111/ejn.12486. Epub 2014 Jan 27. PubMed PMID: 24460873; PubMed Central PMCID: PMC4132060.

JARO Cover

Fang Q, Giordimaina AM, Dolan DF, Camper SA, Mustapha M. Genetic background of Prop1(df) mutants provides remarkable protection against hypothyroidism-induced hearing impairment. J Assoc Res Otolaryngol. 2012 Apr;13(2):173-84. doi: 10.1007/s10162-011-0302-3. Epub 2011 Dec 6. PubMed PMID: 22143287; PubMed Central PMCID: PMC3298611.

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. High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects. Genet Test Mol Biomarkers. 2010 Jun;14(3):307-11. doi: 10.1089/gtmb.2009.0174. PubMed PMID: 20373850; PubMed Central PMCID: PMC2936956.

Mustapha M, Fang Q, Gong TW, Dolan DF, Raphael Y, Camper SA, Duncan RK. Deafness and permanently reduced potassium channel gene expression and function in hypothyroid Pit1dw mutants. J Neurosci. 2009 Jan 28;29(4):1212-23. doi: 10.1523/JNEUROSCI.4957-08.2009. PubMed PMID: 19176829; PubMed Central PMCID: PMC3862029.

Swiderski DL, Gong TW, Mustapha M. Complexity and integration in the control of inner-ear development. Genome Biol. 2007;8(9):315. PubMed PMID: 17915040; PubMed Central PMCID: PMC2375016.

Cover of JARO

Mustapha M, Beyer LA, Izumikawa M, Swiderski DL, Dolan DF, Raphael Y, Camper SA. Whirler mutant hair cells have less severe pathology than shaker 2 or double mutants. J Assoc Res Otolaryngol. 2007 Sep;8(3):329-37. Epub 2007 Jul 6. PubMed PMID: 17619105; PubMed Central PMCID: PMC2538434.

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. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet. 2003 Aug;34(4):421-8. PubMed PMID: 12833159.

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. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet. 2003 Mar 1;12(5):463-71. PubMed PMID: 12588794.

Denoyelle F, Mustapha M, Petit C. DFNB21. Adv Otorhinolaryngol.
2002;61:153-5. PubMed PMID: 12408078.

Medlej-Hashim M, Mustapha M, Chouery E, Weil D, Parronaud J, Salem N, Delague V, Loiselet J, Lathrop M, Petit C, Mégarbané A. Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations. Eur J Hum Genet. 2002 Jun;10(6):391-4. PubMed PMID: 12080392.

Mustapha M, Chouery E, Chardenoux S, Naboulsi M, Paronnaud J, Lemainque A, Mégarbané A, Loiselet J, Weil D, Lathrop M, Petit C. DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34. Eur J Hum Genet. 2002 Mar;10(3):210-2. PubMed PMID: 11973626.

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. 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. Proc Natl Acad Sci U S A. 2002 Apr 30;99(9):6240-5. Epub 2002 Apr 23. PubMed PMID: 11972037; PubMed Central PMCID: PMC122933.

Mustapha M, Chouery E, Torchard-Pagnez D, Nouaille S, Khrais A, Sayegh FN, Mégarbané A, Loiselet J, Lathrop M, Petit C, Weil D. A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. Hum Genet. 2002 Apr;110(4):348-50. Epub 2002 Mar 12. PubMed PMID: 11941484.

Mustapha M, Salem N, Delague V, Chouery E, Ghassibeh M, Rai M, Loiselet J, Petit C, Mégarbané A. 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. J Med Genet. 2001 Oct;38(10):E36. PubMed PMID: 11584050; PubMed Central PMCID: PMC1734738.

Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet. 1999 Apr;21(4):363-9. PubMed PMID: 10192385.

Mustapha M, Weil D, Chardenoux S, Elias S, El-Zir E, Beckmann JS, Loiselet J, Petit C. An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet. 1999 Mar;8(3):409-12. PubMed PMID: 9949200.

Mustapha M, Salem N, Weil D, el-Zir E, Loiselet J, Petit C. Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness. Eur J Hum Genet. 1998 Nov-Dec;6(6):548-51. PubMed PMID: 9887371.

Saouda M, Mansour A, Bou Moglabey Y, El Zir E, Mustapha M, Chaib H, Nehmé A, Mégarbané A, Loiselet J, Petit C, Slim R. The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region. Hum Genet. 1998 Aug;103(2):193-8. PubMed PMID: 9760205.

Mustapha M, Azar ST, Moglabey YB, Saouda M, Zeitoun G, Loiselet J, Slim R. Further refinement of Pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425. J Med Genet. 1998 Mar;35(3):202-4. PubMed PMID: 9541103; PubMed Central PMCID: PMC1051242.

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, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet. 1997 Nov;6(12):2173-7. PubMed PMID: 9336442.