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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. Mburu P, et al. Nat Genet. 2003 Aug;34(4):421-8. doi: 10.1038/ng1208. Nat Genet. 2003. PMID: 12833159
Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.
Dunbar LA, Patni P, Aguilar C, Mburu P, Corns L, Wells HR, Delmaghani S, Parker A, Johnson S, Williams D, Esapa CT, Simon MM, Chessum L, Newton S, Dorning J, Jeyarajan P, Morse S, Lelli A, Codner GF, Peineau T, Gopal SR, Alagramam KN, Hertzano R, Dulon D, Wells S, Williams FM, Petit C, Dawson SJ, Brown SD, Marcotti W, El-Amraoui A, Bowl MR. Dunbar LA, et al. Among authors: mburu p. EMBO Mol Med. 2019 Sep;11(9):e10288. doi: 10.15252/emmm.201910288. Epub 2019 Aug 26. EMBO Mol Med. 2019. PMID: 31448880 Free PMC article.
26 results