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A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family.
Cheng J, Han DY, Dai P, Sun HJ, Tao R, Sun Q, Yan D, Qin W, Wang HY, Ouyang XM, Yang SZ, Cao JY, Feng GY, Du LL, Zhang YZ, Zhai SQ, Yang WY, Liu XZ, He L, Yuan HJ. Cheng J, et al. Among authors: yang sz, yang wy. Clin Genet. 2007 Nov;72(5):471-7. doi: 10.1111/j.1399-0004.2007.00889.x. Epub 2007 Sep 14. Clin Genet. 2007. PMID: 17868390
The application of genome editing in studying hearing loss.
Zou B, Mittal R, Grati M, Lu Z, Shu Y, Tao Y, Feng Y, Xie D, Kong W, Yang S, Chen ZY, Liu X. Zou B, et al. Among authors: yang s. Hear Res. 2015 Sep;327:102-8. doi: 10.1016/j.heares.2015.04.016. Epub 2015 May 15. Hear Res. 2015. PMID: 25987504 Free PMC article. Review.
Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents.
Gao X, Tao Y, Lamas V, Huang M, Yeh WH, Pan B, Hu YJ, Hu JH, Thompson DB, Shu Y, Li Y, Wang H, Yang S, Xu Q, Polley DB, Liberman MC, Kong WJ, Holt JR, Chen ZY, Liu DR. Gao X, et al. Among authors: yang s. Nature. 2018 Jan 11;553(7687):217-221. doi: 10.1038/nature25164. Epub 2017 Dec 20. Nature. 2018. PMID: 29258297 Free PMC article.
Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64.
Cheng J, Zhu Y, He S, Lu Y, Chen J, Han B, Petrillo M, Wrzeszczynski KO, Yang S, Dai P, Zhai S, Han D, Zhang MQ, Li W, Liu X, Li H, Chen ZY, Yuan H. Cheng J, et al. Among authors: yang s. Am J Hum Genet. 2011 Jul 15;89(1):56-66. doi: 10.1016/j.ajhg.2011.05.027. Epub 2011 Jun 30. Am J Hum Genet. 2011. PMID: 21722859 Free PMC article.
De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.
Yuan Y, Zhang J, Chang Q, Zeng J, Xin F, Wang J, Zhu Q, Wu J, Lu J, Guo W, Yan X, Jiang H, Zhou B, Li Q, Gao X, Yuan H, Yang S, Han D, Mao Z, Chen P, Lin X, Dai P. Yuan Y, et al. Among authors: yang s. Cell Res. 2014 Nov;24(11):1370-3. doi: 10.1038/cr.2014.77. Epub 2014 Jun 10. Cell Res. 2014. PMID: 24913193 Free PMC article. No abstract available.
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