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Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise.
Yan D, Zhu Y, Walsh T, Xie D, Yuan H, Sirmaci A, Fujikawa T, Wong AC, Loh TL, Du L, Grati M, Vlajkovic SM, Blanton S, Ryan AF, Chen ZY, Thorne PR, Kachar B, Tekin M, Zhao HB, Housley GD, King MC, Liu XZ. Yan D, et al. Among authors: du l. Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):2228-33. doi: 10.1073/pnas.1222285110. Epub 2013 Jan 23. Proc Natl Acad Sci U S A. 2013. PMID: 23345450 Free PMC article.
Audiologic and genetic features of the A3243G mtDNA mutation.
Vivero RJ, Ouyang X, Kim YG, Liu W, Du L, Yan D, Liu XZ. Vivero RJ, et al. Among authors: du l. Genet Test Mol Biomarkers. 2013 May;17(5):383-9. doi: 10.1089/gtmb.2012.0403. Epub 2013 Mar 11. Genet Test Mol Biomarkers. 2013. PMID: 23477312 Free PMC article.
Audiological and genetic features of the mtDNA mutations.
Liu XZ, Angeli S, Ouyang XM, Liu W, Ke XM, Liu YH, Liu SX, Du LL, Deng XW, Yuan H, Yan D. Liu XZ, et al. Among authors: du ll. Acta Otolaryngol. 2008 Jul;128(7):732-8. doi: 10.1080/00016480701719011. Acta Otolaryngol. 2008. PMID: 18568513 Free PMC article.
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: du ll. 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
8,191 results