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- W2065809189 abstract "Williams syndrome (a.k.a. Williams-Beuren Syndrome) is a multisystem disorder caused by the hemizygous deletion of a 1.6-Mb region at 7q11.23 encompassing about 26 genes, including that encoding LIM kinase 1 (LIMK1). Individuals with Williams Syndrome manifest hyperacusis and progressive hearing loss, and hyperacusis early onset suggests that it could be associated with one of the deleted genes. Based on our results about the critical role of LIM kinases in the regulation of the motile response of cochlear outer hair cells and cochlear amplification, we propose here that a reduced expression of LIMK1 in outer hair cells would be the major underlying cause of the hyperacusis and progressive hearing loss observed in patients with Williams Syndrome. Moreover, we propose a novel model of gain-control for cochlear amplification based on the LIMK-mediated regulation of slow motility of cochlear outer hair cells." @default.
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- W2065809189 date "2011-03-01" @default.
- W2065809189 modified "2023-10-12" @default.
- W2065809189 title "Linking LIMK1 deficiency to hyperacusis and progressive hearing loss in individuals with Williams syndrome" @default.
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- W2065809189 doi "https://doi.org/10.4161/cib.4.2.14491" @default.
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