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Journal Abstract Search

129 related items for PubMed ID: 28186612

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  • 3. A deafness-associated mitochondrial DNA mutation altered the tRNASer(UCN) metabolism and mitochondrial function.
    Xue L, Chen Y, Tang X, Yao J, Huang H, Wang M, Ye S, Wang M, Guan MX.
    Mitochondrion; 2019 May; 46():370-379. PubMed ID: 30336267
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  • 4. 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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  • 6. A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment.
    Hutchin TP, Parker MJ, Young ID, Davis AC, Pulleyn LJ, Deeble J, Lench NJ, Markham AF, Mueller RF.
    J Med Genet; 2000 Sep 21; 37(9):692-4. PubMed ID: 10978361
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  • 7. Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNASer(UCN) 7511A>G mutation.
    Fan W, Zheng J, Kong W, Cui L, Aishanjiang M, Yi Q, Wang M, Cang X, Tang X, Chen Y, Mo JQ, Sondheimer N, Ge W, Guan MX.
    J Biol Chem; 2019 Dec 13; 294(50):19292-19305. PubMed ID: 31685661
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  • 8. 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
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  • 9. Low penetrance of hearing loss in two Chinese families carrying the mitochondrial tRNASer(UCN) mutations.
    Peng W, Zhong Y, Zhao X, Yuan J.
    Mol Med Rep; 2020 Jul 01; 22(1):77-86. PubMed ID: 32377700
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  • 10. Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness.
    Li X, Fischel-Ghodsian N, Schwartz F, Yan Q, Friedman RA, Guan MX.
    Nucleic Acids Res; 2004 Jul 01; 32(3):867-77. PubMed ID: 14960712
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  • 11. Mitochondrial tRNA mutations associated with deafness.
    Zheng J, Ji Y, Guan MX.
    Mitochondrion; 2012 May 01; 12(3):406-13. PubMed ID: 22538251
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  • 12. 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 May 01; 104(1-2):153-9. PubMed ID: 21621438
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  • 15. A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.
    Cardaioli E, Da Pozzo P, Gallus GN, Malandrini A, Gambelli S, Gaudiano C, Malfatti E, Viscomi C, Zicari E, Berti G, Serni G, Dotti MT, Federico A.
    Neuromuscul Disord; 2007 Oct 01; 17(9-10):681-3. PubMed ID: 17614276
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  • 16. Translation activity of mitochondrial tRNA with unusual secondary structure.
    Hanada T, Suzuki T, Watanabe K.
    Nucleic Acids Symp Ser; 2000 Oct 01; (44):249-50. PubMed ID: 12903362
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  • 17. Is mitochondrial tRNA(Ser(UCN)) T7501C mutation associated with cardiovascular disease?
    Ding Y, Huang J.
    Mitochondrial DNA A DNA Mapp Seq Anal; 2016 Oct 01; 27(1):205-8. PubMed ID: 24491108
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  • 18. [Hearing loss and epilepsy may be associated with the novel mitochondrial tRNASer(UCN) 7472delC mutation in a Chinese family].
    Zhao JY, Tang XW, Lan JS, Lv JX, Yang L, Li ZY, Zhu Y, Sun DM, Yang AF, Wang JD, Xu J, Guan MX.
    Yi Chuan; 2008 Dec 01; 30(12):1557-62. PubMed ID: 19073569
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  • 19. A novel MT-CO1 m.6498C>A variation associated with the m.7444G>A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes in a patient with hearing impairment, diabetes and congenital visual loss.
    Mkaouar-Rebai E, Chamkha I, Kammoun T, Alila-Fersi O, Aloulou H, Hachicha M, Fakhfakh F.
    Biochem Biophys Res Commun; 2013 Jan 11; 430(2):585-91. PubMed ID: 23219819
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  • 20. Application of next‑generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss.
    Lechowicz U, Pollak A, Frączak A, Rydzanicz M, Stawiński P, Lorens A, Skarżyński PH, Skarżyński H, Płoski R, Ołdak M.
    Mol Med Rep; 2018 Jan 11; 17(1):1782-1790. PubMed ID: 29257206
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