Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss
Author:
Funder
Association SOS Rétinite France French Agency of Biomedicine
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-023-01374-0.pdf
Reference27 articles.
1. Morton NE. Genetic epidemiology of hearing impairment. Ann N. Y Acad. Sci. 1991;630:16–31.
2. Shiraishi-Yamaguchi Y, Furuichi T. The Homer family proteins. Genome Biol. 2007;8:206.
3. Shiraishi-Yamaguchi Y, Sato Y, Sakai R, Mizutani A, Knöpfel T, Mori N, et al. Interaction of Cupidin/Homer2 with two actin cytoskeletal regulators, Cdc42 small GTPase and Drebrin, in dendritic spines. BMC Neurosci. 2009;10:25.
4. Azaiez H, Decker AR, Booth KT, Simpson AC, Shearer AE, Huygen PLM, et al. HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. PLoS Genet. 2015;11:e1005137.
5. Lu X, Wang Q, Gu H, Zhang X, Qi Y, Liu Y. Whole exome sequencing identified a second pathogenic variant in HOMER2 for autosomal dominant non-syndromic deafness. Clin Genet. 2018;94:419–28.
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