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Mitochondrial ND5 T12338C, tRNA(Cys) T5802C, and tRNA(Thr) G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees.
Chen B, Sun D, Yang L, Zhang C, Yang A, Zhu Y, Zhao J, Chen Y, Guan M, Wang X, Li R, Tang X, Wang J, Tao Z, Lu J, Guan MX. Chen B, et al. Among authors: yang a, yang l. Am J Med Genet A. 2008 May 15;146A(10):1248-58. doi: 10.1002/ajmg.a.32285. Am J Med Genet A. 2008. PMID: 18386806
Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss.
Jin L, Yang A, Zhu Y, Zhao J, Wang X, Yang L, Sun D, Tao Z, Tsushima A, Wu G, Xu L, Chen C, Yi B, Cai J, Tang X, Wang J, Li D, Yuan Q, Liao Z, Chen J, Li Z, Lu J, Guan MX. Jin L, et al. Among authors: yang a, yang l. Biochem Biophys Res Commun. 2007 Sep 14;361(1):133-9. doi: 10.1016/j.bbrc.2007.06.171. Epub 2007 Jul 10. Biochem Biophys Res Commun. 2007. PMID: 17659260
Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.
Chen J, Yang L, Yang A, Zhu Y, Zhao J, Sun D, Tao Z, Tang X, Wang J, Wang X, Tsushima A, Lan J, Li W, Wu F, Yuan Q, Ji J, Feng J, Wu C, Liao Z, Li Z, Greinwald JH, Lu J, Guan MX. Chen J, et al. Among authors: yang a, yang l. Gene. 2007 Oct 15;401(1-2):4-11. doi: 10.1016/j.gene.2007.06.009. Epub 2007 Jun 20. Gene. 2007. PMID: 17698299 Free PMC article.
The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family.
Liao Z, Zhao J, Zhu Y, Yang L, Yang A, Sun D, Zhao Z, Wang X, Tao Z, Tang X, Wang J, Guan M, Chen J, Li Z, Lu J, Guan MX. Liao Z, et al. Among authors: yang a, yang l. Biochem Biophys Res Commun. 2007 Oct 26;362(3):670-6. doi: 10.1016/j.bbrc.2007.08.034. Epub 2007 Aug 15. Biochem Biophys Res Commun. 2007. PMID: 17723226 Free PMC article.
Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss.
Lu J, Li Z, Zhu Y, Yang A, Li R, Zheng J, Cai Q, Peng G, Zheng W, Tang X, Chen B, Chen J, Liao Z, Yang L, Li Y, You J, Ding Y, Yu H, Wang J, Sun D, Zhao J, Xue L, Wang J, Guan MX. Lu J, et al. Among authors: yang a, yang l. Mitochondrion. 2010 Jun;10(4):380-90. doi: 10.1016/j.mito.2010.01.007. Epub 2010 Jan 25. Mitochondrion. 2010. PMID: 20100600 Free PMC article.
5,283 results