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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: zhai 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.
Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss.
Yuan H, Qian Y, Xu Y, Cao J, Bai L, Shen W, Ji F, Zhang X, Kang D, Mo JQ, Greinwald JH, Han D, Zhai S, Young WY, Guan MX. Yuan H, et al. Among authors: zhai s. Am J Med Genet A. 2005 Oct 1;138A(2):133-40. doi: 10.1002/ajmg.a.30952. Am J Med Genet A. 2005. PMID: 16152638 Free PMC article.
Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation.
Wang Q, Li QZ, Han D, Zhao Y, Zhao L, Qian Y, Yuan H, Li R, Zhai S, Young WY, Guan MX. Wang Q, et al. Among authors: zhai s. Biochem Biophys Res Commun. 2006 Feb 10;340(2):583-8. doi: 10.1016/j.bbrc.2005.12.045. Epub 2005 Dec 19. Biochem Biophys Res Commun. 2006. PMID: 16380089
Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss.
Yuan H, Chen J, Liu X, Cheng J, Wang X, Yang L, Yang S, Cao J, Kang D, Dai P, Zhai S, Han D, Young WY, Guan MX. Yuan H, et al. Among authors: zhai s. Biochem Biophys Res Commun. 2007 Oct 12;362(1):94-100. doi: 10.1016/j.bbrc.2007.07.161. Epub 2007 Aug 8. Biochem Biophys Res Commun. 2007. PMID: 17698030
Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss.
Chen J, Yuan H, Lu J, Liu X, Wang G, Zhu Y, Cheng J, Wang X, Han B, Yang L, Yang S, Yang A, Sun Q, Kang D, Zhang X, Dai P, Zhai S, Han D, Young WY, Guan MX. Chen J, et al. Among authors: zhai s. Mitochondrion. 2008 Sep;8(4):285-92. doi: 10.1016/j.mito.2008.05.002. Epub 2008 May 23. Mitochondrion. 2008. PMID: 18639500
1,607 results