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226 related items for PubMed ID: 20153673

  • 1. 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]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss.
    Tang X, Zheng J, Ying Z, Cai Z, Gao Y, He Z, Yu H, Yao J, Yang Y, Wang H, Chen Y, Guan MX.
    Mitochondrion; 2015 Jul 13; 23():17-24. PubMed ID: 25968158
    [Abstract] [Full Text] [Related]

  • 4. Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family.
    Xing G, Chen Z, Wei Q, Tian H, Li X, Zhou A, Bu X, Cao X.
    Biochem Biophys Res Commun; 2006 Jun 16; 344(4):1253-7. PubMed ID: 16650816
    [Abstract] [Full Text] [Related]

  • 5. Mitochondrial ND5 T12338C, tRNA(Cys) T5802C, and tRNA(Thr) G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees.
    Chen B, Sun D, Yang L, Zhang C, Yang A, Zhu Y, Zhao J, Chen Y, Guan M, Wang X, Li R, Tang X, Wang J, Tao Z, Lu J, Guan MX.
    Am J Med Genet A; 2008 May 15; 146A(10):1248-58. PubMed ID: 18386806
    [Abstract] [Full Text] [Related]

  • 6. [Hearing loss may be associated with the novel mitochondrial tRNA(Asp) A7551G mutation in a Chinese family].
    Wu Y, Liang LZ, Xiao HL, Yang YL, Yu X, Zheng J, Fang F, Zheng BJ, Tang XW, Jin LJ, Guan MX.
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2013 Dec 15; 48(12):978-84. PubMed ID: 24506995
    [Abstract] [Full Text] [Related]

  • 7. Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.
    Wang X, Lu J, Zhu Y, Yang A, Yang L, Li R, Chen B, Qian Y, Tang X, Wang J, Zhang X, Guan MX.
    Pharmacogenet Genomics; 2008 Dec 15; 18(12):1059-70. PubMed ID: 18820594
    [Abstract] [Full Text] [Related]

  • 8. 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 Dec 15; 32(3):867-77. PubMed ID: 14960712
    [Abstract] [Full Text] [Related]

  • 9. 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.
    Biochem Biophys Res Commun; 2007 Oct 12; 362(1):94-100. PubMed ID: 17698030
    [Abstract] [Full Text] [Related]

  • 10. Novel m.4268T>C mutation in the mitochondrial tRNAIle gene is associated with hearing loss in two Chinese families.
    Zhao LJ, Zhang ZL, Fu Y.
    World J Clin Cases; 2022 Jan 07; 10(1):205-216. PubMed ID: 35071519
    [Abstract] [Full Text] [Related]

  • 11. [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 07; 30(12):1557-62. PubMed ID: 19073569
    [Abstract] [Full Text] [Related]

  • 12. Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNASerUCN gene in a Japanese family.
    Li R, Ishikawa K, Deng JH, Heman-Ackah S, Tamagawa Y, Yang L, Bai Y, Ichimura K, Guan MX.
    Biochem Biophys Res Commun; 2005 Mar 04; 328(1):32-7. PubMed ID: 15670746
    [Abstract] [Full Text] [Related]

  • 13. Mitochondrial tRNA(Glu) A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family.
    Ding Y, Li Y, You J, Yang L, Chen B, Lu J, Guan MX.
    J Genet Genomics; 2009 Apr 04; 36(4):241-50. PubMed ID: 19376484
    [Abstract] [Full Text] [Related]

  • 14. 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.
    Mitochondrion; 2008 Sep 04; 8(4):285-92. PubMed ID: 18639500
    [Abstract] [Full Text] [Related]

  • 15. Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese Family.
    Li R, Liu Y, Li Z, Yang L, Wang S, Guan MX.
    Hypertension; 2009 Aug 04; 54(2):329-37. PubMed ID: 19546379
    [Abstract] [Full Text] [Related]

  • 16. [Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss in five Han Chinese pedigrees].
    Zhang T, Chen BB, Zheng J, Gong SS, Zhang CQ, Lv JX, Guan MX.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Aug 04; 28(4):367-73. PubMed ID: 21811972
    [Abstract] [Full Text] [Related]

  • 17. 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 04; 22(1):77-86. PubMed ID: 32377700
    [Abstract] [Full Text] [Related]

  • 18. Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.
    Chen J, Yang L, Yang A, Zhu Y, Zhao J, Sun D, Tao Z, Tang X, Wang J, Wang X, Tsushima A, Lan J, Li W, Wu F, Yuan Q, Ji J, Feng J, Wu C, Liao Z, Li Z, Greinwald JH, Lu J, Guan MX.
    Gene; 2007 Oct 15; 401(1-2):4-11. PubMed ID: 17698299
    [Abstract] [Full Text] [Related]

  • 19. Mitochondrial COI/tRNASer(UCN) G7444A mutation may be associated with hearing impairment in a Han Chinese family.
    Ding Y, Xia BH, Teng YS, Zhuo GC, Leng JH.
    Int J Clin Exp Pathol; 2017 Oct 15; 10(9):9496-9502. PubMed ID: 31966824
    [Abstract] [Full Text] [Related]

  • 20. [Characterization of two Chinese families with aminoglycoside-induced and nonsyndromic hearing loss both carrying a mitochondrial 12S rRNA 1494C>T mutation].
    Gong SS, Chen BB, Peng GH, Zheng J, Zhang T, Zheng BJ, Fang F, Zhang CQ, Lv JX, Guan MX.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Aug 15; 29(4):382-7. PubMed ID: 22875491
    [Abstract] [Full Text] [Related]

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