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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. Among authors: brown sd. Nat Genet. 2003 Aug;34(4):421-8. doi: 10.1038/ng1208. Nat Genet. 2003. PMID: 12833159
Protein 4.1 expression in the developing hair cells of the mouse inner ear.
Okumura K, Mochizuki E, Yokohama M, Yamakawa H, Shitara H, Mburu P, Yonekawa H, Brown SD, Kikkawa Y. Okumura K, et al. Among authors: brown sd. Brain Res. 2010 Jan 11;1307:53-62. doi: 10.1016/j.brainres.2009.10.039. Epub 2009 Oct 22. Brain Res. 2010. PMID: 19853587
Mutation at the Evi1 locus in Junbo mice causes susceptibility to otitis media.
Parkinson N, Hardisty-Hughes RE, Tateossian H, Tsai HT, Brooker D, Morse S, Lalane Z, MacKenzie F, Fray M, Glenister P, Woodward AM, Polley S, Barbaric I, Dear N, Hough TA, Hunter AJ, Cheeseman MT, Brown SD. Parkinson N, et al. Among authors: brown sd. PLoS Genet. 2006 Oct 6;2(10):e149. doi: 10.1371/journal.pgen.0020149. PLoS Genet. 2006. PMID: 17029558 Free PMC article.
1,049 results