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Journal Abstract Search

226 related items for PubMed ID: 20153673

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  • 44. Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.
    Sue CM, Tanji K, Hadjigeorgiou G, Andreu AL, Nishino I, Krishna S, Bruno C, Hirano M, Shanske S, Bonilla E, Fischel-Ghodsian N, DiMauro S, Friedman R.
    Neurology; 1999 Jun 10; 52(9):1905-8. PubMed ID: 10371545
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  • 45. [Mitochondrial 12S rRNA A1555G mutation associated with nonsyndromic hearing loss in twenty-five Han Chinese pedigrees].
    Peng GH, Zheng BJ, Fang F, Wu Y, Liang LZ, Zheng J, Nan BY, Yu X, Tang XW, Zhu Y, Lu JX, Chen BB, Guan MX.
    Yi Chuan; 2013 Jan 10; 35(1):62-72. PubMed ID: 23357266
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  • 46. Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss.
    Labay V, Garrido G, Madeo AC, Nance WE, Friedman TB, Friedman PL, Del Castillo I, Griffith AJ.
    Clin Genet; 2008 Jan 10; 73(1):50-4. PubMed ID: 18028453
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  • 47. [Mutations analysis in a pedigree with maternally inherited sensorineural hearing loss].
    Xu C, Zhang H, Zhang Y, Zhao S, Geng X, Shan Y, Shan X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Apr 10; 22(2):125-8. PubMed ID: 15793769
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  • 50. A South African family with the mitochondrial A1555G mutation on haplogroup L0d.
    Human H, Lombard D, de Jong G, Bardien S.
    Biochem Biophys Res Commun; 2009 May 01; 382(2):390-4. PubMed ID: 19285484
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  • 51. Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation.
    Meng F, Cang X, Peng Y, Li R, Zhang Z, Li F, Fan Q, Guan AS, Fischel-Ghosian N, Zhao X, Guan MX.
    J Biol Chem; 2017 Feb 17; 292(7):2881-2892. PubMed ID: 28049726
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  • 56. 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.
    Biochem Biophys Res Commun; 2007 Oct 26; 362(3):670-6. PubMed ID: 17723226
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  • 57. The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover.
    Toompuu M, Yasukawa T, Suzuki T, Hakkinen T, Spelbrink JN, Watanabe K, Jacobs HT.
    J Biol Chem; 2002 Jun 21; 277(25):22240-50. PubMed ID: 11919191
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  • 58. Molecular and clinical characterization of the variable phenotype in Korean families with hearing loss associated with the mitochondrial A1555G mutation.
    Bae JW, Kim DB, Choi JY, Park HJ, Lee JD, Hur DG, Bae SH, Jung DJ, Lee SH, Kim UK, Lee KY.
    PLoS One; 2012 Jun 21; 7(8):e42463. PubMed ID: 22879993
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  • 59. [Analysis of mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia].
    Dzhemileva LU, Posukh OL, Tazetdinov AM, Barashkov NA, Zhuravskiĭ SG, Ponidelko SN, Markova TG, Tadinova VN, Fedorova SA, Maksimova NR, Khusnutdinova EK.
    Genetika; 2009 Jul 21; 45(7):982-91. PubMed ID: 19705751
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