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Journal Abstract Search

242 related items for PubMed ID: 30336267

  • 21. Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.
    Tang X, Li R, Zheng J, Cai Q, Zhang T, Gong S, Zheng W, He X, Zhu Y, Xue L, Yang A, Yang L, Lu J, Guan MX.
    Mol Genet Metab; 2010 May; 100(1):57-64. PubMed ID: 20153673
    [Abstract] [Full Text] [Related]

  • 22. A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.
    Gong S, Peng Y, Jiang P, Wang M, Fan M, Wang X, Zhou H, Li H, Yan Q, Huang T, Guan MX.
    Nucleic Acids Res; 2014 Jul; 42(12):8039-48. PubMed ID: 24920829
    [Abstract] [Full Text] [Related]

  • 23. Mitochondrial tRNASer(UCN) 7471delC may be a novel mutation associated with maternally transmitted hypertension.
    Yang P, Wu P, Liu X, Feng J, Zheng S, Wang Y, Fan Z.
    Ir J Med Sci; 2020 May; 189(2):489-496. PubMed ID: 31776834
    [Abstract] [Full Text] [Related]

  • 24. A deafness-associated mitochondrial DNA mutation caused pleiotropic effects on DNA replication and tRNA metabolism.
    Meng F, Jia Z, Zheng J, Ji Y, Wang J, Xiao Y, Fu Y, Wang M, Ling F, Guan MX.
    Nucleic Acids Res; 2022 Sep 09; 50(16):9453-9469. PubMed ID: 36039763
    [Abstract] [Full Text] [Related]

  • 25. [Sequence analysis of mtDNA 12S rRNA, tRNA(Leu(UUR)),tRNA(Ser(UCN))and 16S rRNA gene of 12 nonsyndromic inherited deafness pedigrees].
    Li W, Han D, Yuan H, Wang Y, Cao J, Yang W, Jiang S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Dec 09; 18(6):415-20. PubMed ID: 11774206
    [Abstract] [Full Text] [Related]

  • 26. A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis.
    Jia Z, Zhang Y, Li Q, Ye Z, Liu Y, Fu C, Cang X, Wang M, Guan MX.
    Nucleic Acids Res; 2019 Feb 28; 47(4):2056-2074. PubMed ID: 30541130
    [Abstract] [Full Text] [Related]

  • 27. Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.
    Tuppen HA, Naess K, Kennaway NG, Al-Dosary M, Lesko N, Yarham JW, Bruhn H, Wibom R, Nennesmo I, Weleber RG, Blakely EL, Taylor RW, McFarland R.
    Eur J Hum Genet; 2012 Aug 28; 20(8):897-904. PubMed ID: 22378285
    [Abstract] [Full Text] [Related]

  • 28. Screening of the general Polish population for deafness-associated mutations in mitochondrial 12S rRNA and tRNA Ser(UCN) genes.
    Rydzanicz M, Wróbel M, Cywińska K, Froehlich D, Gawecki W, Szyfter W, Szyfter K.
    Genet Test Mol Biomarkers; 2009 Apr 28; 13(2):167-72. PubMed ID: 19371214
    [Abstract] [Full Text] [Related]

  • 29. Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation.
    Götz A, Isohanni P, Liljeström B, Rummukainen J, Nikolajev K, Herrgård E, Marjavaara S, Suomalainen A.
    Pediatr Res; 2012 Jul 28; 72(1):90-4. PubMed ID: 22453297
    [Abstract] [Full Text] [Related]

  • 30. 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
    [Abstract] [Full Text] [Related]

  • 31. A mitochondrial myopathy-associated tRNASer(UCN) 7453G>A mutation alters tRNA metabolism and mitochondrial function.
    Lin Y, Xu X, Wang W, Liu F, Zhao D, Li D, Ji K, Li W, Zhao Y, Yan C.
    Mitochondrion; 2021 Mar 10; 57():1-8. PubMed ID: 33279600
    [Abstract] [Full Text] [Related]

  • 32. Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation.
    Reid FM, Rovio A, Holt IJ, Jacobs HT.
    Hum Mol Genet; 1997 Mar 10; 6(3):443-9. PubMed ID: 9147648
    [Abstract] [Full Text] [Related]

  • 33. A deafness-associated tRNA mutation caused pleiotropic effects on the m1G37 modification, processing, stability and aminoacylation of tRNAIle and mitochondrial translation.
    Meng F, Zhou M, Xiao Y, Mao X, Zheng J, Lin J, Lin T, Ye Z, Cang X, Fu Y, Wang M, Guan MX.
    Nucleic Acids Res; 2021 Jan 25; 49(2):1075-1093. PubMed ID: 33398350
    [Abstract] [Full Text] [Related]

  • 34. A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome.
    Nakamura M, Nakano S, Goto Y, Ozawa M, Nagahama Y, Fukuyama H, Akiguchi I, Kaji R, Kimura J.
    Biochem Biophys Res Commun; 1995 Sep 05; 214(1):86-93. PubMed ID: 7669057
    [Abstract] [Full Text] [Related]

  • 35. In vitro 3'-end endonucleolytic processing defect in a human mitochondrial tRNA(Ser(UCN)) precursor with the U7445C substitution, which causes non-syndromic deafness.
    Levinger L, Jacobs O, James M.
    Nucleic Acids Res; 2001 Nov 01; 29(21):4334-40. PubMed ID: 11691920
    [Abstract] [Full Text] [Related]

  • 36. The contribution of the mitochondrial COI/tRNA(Ser(UCN)) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients.
    Rydzanicz M, Cywińska K, Wróbel M, Pollak A, Gawęcki W, Wojsyk-Banaszak I, Lechowicz U, Mueller-Malesińska M, Ołdak M, Płoski R, Skarżyński H, Szyfter K, Szyfter W.
    Mol Genet Metab; 2011 Nov 01; 104(1-2):153-9. PubMed ID: 21621438
    [Abstract] [Full Text] [Related]

  • 37. Deafness-associated tRNAPhe mutation impaired mitochondrial and cellular integrity.
    Chen X, Meng F, Chen C, Li S, Chou Z, Xu B, Mo JQ, Guo Y, Guan MX.
    J Biol Chem; 2024 May 01; 300(5):107235. PubMed ID: 38552739
    [Abstract] [Full Text] [Related]

  • 38. A Hypertension-Associated tRNAAla Mutation Alters tRNA Metabolism and Mitochondrial Function.
    Jiang P, Wang M, Xue L, Xiao Y, Yu J, Wang H, Yao J, Liu H, Peng Y, Liu H, Li H, Chen Y, Guan MX.
    Mol Cell Biol; 2016 Jul 15; 36(14):1920-30. PubMed ID: 27161322
    [Abstract] [Full Text] [Related]

  • 39. Mytilus mitochondrial DNA contains a functional gene for a tRNASer(UCN) with a dihydrouridine arm-replacement loop and a pseudo-tRNASer(UCN) gene.
    Beagley CT, Okimoto R, Wolstenholme DR.
    Genetics; 1999 Jun 15; 152(2):641-52. PubMed ID: 10353906
    [Abstract] [Full Text] [Related]

  • 40. Mechanistic insights into mitochondrial tRNAAla 3'-end metabolism deficiency.
    Ji Y, Nie Z, Meng F, Hu C, Chen H, Jin L, Chen M, Zhang M, Zhang J, Liang M, Wang M, Guan MX.
    J Biol Chem; 2021 Jul 15; 297(1):100816. PubMed ID: 34023389
    [Abstract] [Full Text] [Related]

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