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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
A type VII myosin encoded by the mouse deafness gene shaker-1.
Gibson F, Walsh J, Mburu P, Varela A, Brown KA, Antonio M, Beisel KW, Steel KP, Brown SD. Gibson F, et al. Among authors: mburu p. Nature. 1995 Mar 2;374(6517):62-4. doi: 10.1038/374062a0. Nature. 1995. PMID: 7870172
Mutation analysis of the mouse myosin VIIA deafness gene.
Mburu P, Liu XZ, Walsh J, Saw D Jr, Cope MJ, Gibson F, Kendrick-Jones J, Steel KP, Brown SD. Mburu P, et al. Genes Funct. 1997 Jun;1(3):191-203. doi: 10.1046/j.1365-4624.1997.00020.x. Genes Funct. 1997. PMID: 9680294
A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse.
Nolan PM, Peters J, Strivens M, Rogers D, Hagan J, Spurr N, Gray IC, Vizor L, Brooker D, Whitehill E, Washbourne R, Hough T, Greenaway S, Hewitt M, Liu X, McCormack S, Pickford K, Selley R, Wells C, Tymowska-Lalanne Z, Roby P, Glenister P, Thornton C, Thaung C, Stevenson JA, Arkell R, Mburu P, Hardisty R, Kiernan A, Erven A, Steel KP, Voegeling S, Guenet JL, Nickols C, Sadri R, Nasse M, Isaacs A, Davies K, Browne M, Fisher EM, Martin J, Rastan S, Brown SD, Hunter J. Nolan PM, et al. Among authors: mburu p. Nat Genet. 2000 Aug;25(4):440-3. doi: 10.1038/78140. Nat Genet. 2000. PMID: 10932191
Defective myosin VIIA gene responsible for Usher syndrome type 1B.
Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD, et al. Weil D, et al. Among authors: mburu p. Nature. 1995 Mar 2;374(6517):60-1. doi: 10.1038/374060a0. Nature. 1995. PMID: 7870171
Unravelling the genetics of deafness.
Steel KP, Mburu P, Gibson F, Walsh J, Varela A, Brown K, Self T, Mahony M, Fleming J, Pearce A, Harvey D, Cable J, Brown SD. Steel KP, et al. Among authors: mburu p. Ann Otol Rhinol Laryngol Suppl. 1997 May;168:59-62. Ann Otol Rhinol Laryngol Suppl. 1997. PMID: 9153119 Review.
Genetic mapping of the whirler mutation.
Rogers MJ, Fleming J, Kiernan BW, Mburu P, Varela A, Brown SD, Steel KP. Rogers MJ, et al. Among authors: mburu p. Mamm Genome. 1999 May;10(5):513-9. doi: 10.1007/s003359901032. Mamm Genome. 1999. PMID: 10337627
ENU mutagenesis and the search for deafness genes.
Hardisty RE, Mburu P, Brown SD. Hardisty RE, et al. Among authors: mburu p. Br J Audiol. 1999 Oct;33(5):279-83. doi: 10.3109/03005369909090110. Br J Audiol. 1999. PMID: 10890141
26 results