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The mitochondrial COI/tRNASER(UCN) G7444A mutation may be associated with hearing impairment in a Han Chinese family


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Xing J, Liu X, Tian Y, Tan J, Zhao H. Genetic and clinical analysis of nonsyndromic hearing impairment in pediatric and adult cases. Balkan J Med Genet. 2016; 19(1): 35-42.XingJLiuXTianYTanJZhaoH.Genetic and clinical analysis of nonsyndromic hearing impairment in pediatric and adult casesBalkan J Med Genet.2016191354210.1515/bjmg-2016-0005Search in Google Scholar

Sukarova Stefanovska E, Cakar M, Filipce I, Plaseska Karanfilska D. Genetics of non syndromic hearing loss in the republic of macedonia. Balkan J Med Genet. 2012;15(Suppl): 57-59.Sukarova StefanovskaECakarMFilipceIPlaseska KaranfilskaD.Genetics of non syndromic hearing loss in the republic of macedoniaBalkan J Med Genet.201215Suppl575910.2478/v10034-012-0020-0Search in Google Scholar

Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and nonsyndromic deafness. Nat Genet. 1993; 4(3): 289-294.PrezantTRAgapianJVBohlmanMCBuXOztasSQiuWQMitochondrial ribosomal RNA mutation associated with both antibiotic-induced and nonsyndromic deafnessNat Genet.19934328929410.1038/ng0793-289Search in Google Scholar

Pandya A, Xia X, Radnaabazar J, Batsuuri J, Dangaansuren B, Fischel-Ghodsian N, et al. Mutation in the mitochondrial 12S ribosomal-RNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. J Med Genet. 1997; 34(2): 169-172.PandyaAXiaXRadnaabazarJBatsuuriJDangaansurenBFischel-GhodsianNMutation in the mitochondrial 12S ribosomal-RNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicityJ Med Genet.199734216917210.1136/jmg.34.2.169Search in Google Scholar

Ma Y, Xiao Y, Bai X, Zhang F, Zhang D, Xu X, et al. GJB2, SLC26A4, and mitochondrial DNA12S rRNA hot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, China. Acta Otolaryngol. 2016; 136(8): 800-805.MaYXiaoYBaiXZhangFZhangDXuXGJB2, SLC26A4, and mitochondrial DNA12S rRNA hot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, ChinaActa Otolaryngol.2016136880080510.3109/00016489.2016.1164893Search in Google Scholar

Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, et al. Maternally inherited aminoglycoside-induced and non-syndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet. 2004; 74(1): 139-152.ZhaoHLiRWangQYanQDengJHHanDMaternally inherited aminoglycoside-induced and non-syndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese familyAm J Hum Genet.200474113915210.1086/381133Search in Google Scholar

Ding Y, Leng J, Fan F, Xia B, Xu P. The role of mitochondrial DNA mutations in hearing loss. Biochem Genet. 2013; 51(7-8): 588-602.DingYLengJFanFXiaBXuP.The role of mitochondrial DNA mutations in hearing lossBiochem Genet.2013517-858860210.1007/s10528-013-9589-6Search in Google Scholar

Estivill X, Govea N, Barcely E, Badenas C, Romero E, Moral L, et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. Am J Hum Genet. 1998; 62(1): 27-35.EstivillXGoveaNBarcelyEBadenasCRomeroEMoralLFamilial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosidesAm J Hum Genet.1998621273510.1086/301676Search in Google Scholar

del Castillo FJ, Rodríguez-Ballesteros M, Martín Y, Arellano B, Gallo-Terбn J, Morales-Angulo C, et al. Het-eroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. J Med Genet. 2003; 40(8): 632-636.del CastilloFJRodríguez-BallesterosMMartínYArellanoBGallo-TerбnJMorales-AnguloCHet-eroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing lossJ Med Genet.200340863263610.1136/jmg.40.8.632Search in Google Scholar

Guan MX, Fischel-Ghodsian N, Attardi G. Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. Hum Mol Genet. 1996; 5(7): 963-971.GuanMXFischel-GhodsianNAttardiG.Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutationHum Mol Genet.19965796397110.1093/hmg/5.7.963Search in Google Scholar

Zhao H, Young WY, Yan Q, Li R, Cao J, Wang Q, et al. Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and nonsyndromic hearing loss. Nucleic Acid Res. 2005; 33(3): 1132-9.ZhaoHYoungWYYanQLiRCaoJWangQFunctional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and nonsyndromic hearing lossNucleic Acid Res.20053331132910.1093/nar/gki262Search in Google Scholar

Rieder MJ, Taylor SL, Tobe VO, Nickerson DA. Automating the identification of DNA variations using quality-based fluorescence resequencing: analysis of the human mitochondrial genome. Nucleic Acids Res. 1998; 26(4): 967-73.RiederMJTaylorSLTobeVONickersonDA.Automating the identification of DNA variations using quality-based fluorescence resequencing: analysis of the human mitochondrial genomeNucleic Acids Res.19982649677310.1093/nar/26.4.967Search in Google Scholar

Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet. 1999; 23(2): 147.AndrewsRMKubackaIChinneryPFLightowlersRNTurnbullDMHowellN.Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNANat Genet.199923214710.1038/13779Search in Google Scholar

Peyvandi A, Morovvati S, Rabiee H, Ranjbar R, Ajalloueyan M, Hassanalifard M. Detection of the GJB2 mutation in Iranian children with hearing loss treated with cochlear implantation. Balkan J Med Genet. 2011; 14(1): 19-24.PeyvandiAMorovvatiSRabieeHRanjbarRAjalloueyanMHassanalifardM.Detection of the GJB2 mutation in Iranian children with hearing loss treated with cochlear implantationBalkan J Med Genet.2011141192410.2478/v10034-011-0013-4Search in Google Scholar

Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, et al. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness associated mitochondrial 12 S ribosomal RNA mutations. Am J Hum Genet. 2006; 79(2): 291-302.GuanMXYanQLiXBykhovskayaYGallo-TeranJHajekPMutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness associated mitochondrial 12 S ribosomal RNA mutationsAm J Hum Genet.200679229130210.1086/506389Search in Google Scholar

Bibb MJ, Van Etten RA, Wright CT, Walberg MW, Clayton DA. Sequence and gene organization of mouse mitochondrial DNA. Cell. 1981; 26(2): 167-180.BibbMJVan EttenRAWrightCTWalbergMWClaytonDA.Sequence and gene organization of mouse mitochondrial DNACell.198126216718010.1016/0092-8674(81)90300-7Search in Google Scholar

Gadaleta G, Pepe G, De Candia G, Quagliariello C, Sbisa E, Saccone C. The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: Cryptic signals revealed by comparative analysis between vertebrates. J Mol Evol. 1989; 28(6): 497-516.GadaletaGPepeGDe CandiaGQuagliarielloCSbisaESacconeC.The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: Cryptic signals revealed by comparative analysis between vertebratesJ Mol Evol.198928649751610.1007/BF02602930Search in Google Scholar

Roe BA, Ma DP, Wilson RK, Wong JF. The complete nucleotide sequence of the Xenopus laevis mitochondrial genome. J Biol Chem. 1985; 260(17): 9759-9774.RoeBAMaDPWilsonRKWongJF.The complete nucleotide sequence of the Xenopus laevis mitochondrial genomeJ Biol Chem.1985260179759977410.1016/S0021-9258(17)39303-1Search in Google Scholar

Guan MX, Enriquez JA, Fischel-Ghodsian N, Puranam RS, Lin CP, Maw MA, et al. The Deafness-associated mtDNA 7445 mutation, which affects tRNA Ser(UCN) precursor processing, has long-range effects on NADH dehydrogenase ND6 subunit gene expression. Mol Cell Biol. 1998; 18(10): 5868-5879.GuanMXEnriquezJAFischel-GhodsianNPuranamRSLinCPMawMAThe Deafness-associated mtDNA 7445 mutation, which affects tRNA Ser(UCN) precursor processing, has long-range effects on NADH dehydrogenase ND6 subunit gene expressionMol Cell Biol.199818105868587910.1128/MCB.18.10.5868Search in Google Scholar

Han D, Dai P, Zhu Q, Liu X, Huang D, Yuan Y, et al. The mitochondrial tRNA(Ala) T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss. Biochem Biophys Res Commun. 2007; 357(2): 554-560.HanDDaiPZhuQLiuXHuangDYuanYThe mitochondrial tRNA(Ala) T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing lossBiochem Biophys Res Commun.2007357255456010.1016/j.bbrc.2007.03.199Search in Google Scholar

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