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- W2085982647 endingPage "1165" @default.
- W2085982647 startingPage "1165" @default.
- W2085982647 abstract "Usher syndrome is the most common deafness-blindness caused by genetic mutations. To date, three genes have been identified underlying the most prevalent form of Usher syndrome, the type II form (USH2). The proteins encoded by these genes are demonstrated to form a complex in vivo. This complex is localized mainly at the periciliary membrane complex in photoreceptors and the ankle-link of the stereocilia in hair cells. Many proteins have been found to interact with USH2 proteins in vitro, suggesting that they are potential additional components of this USH2 complex and that the genes encoding these proteins may be the candidate USH2 genes. However, further investigations are critical to establish their existence in the USH2 complex in vivo. Based on the predicted functional domains in USH2 proteins, their cellular localizations in photoreceptors and hair cells, the observed phenotypes in USH2 mutant mice, and the known knowledge about diseases similar to USH2, putative biological functions of the USH2 complex have been proposed. Finally, therapeutic approaches for this group of diseases are now being actively explored." @default.
- W2085982647 created "2016-06-24" @default.
- W2085982647 creator A5013090606 @default.
- W2085982647 creator A5065851309 @default.
- W2085982647 creator A5066396102 @default.
- W2085982647 creator A5079842510 @default.
- W2085982647 date "2012-01-01" @default.
- W2085982647 modified "2023-10-18" @default.
- W2085982647 title "Current understanding of usher syndrome type II" @default.
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