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178 related items for PubMed ID: 19338775

  • 1. Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment.
    de Moraes VC, Alexandrino F, Andrade PB, Câmara MF, Sartorato EL.
    Biochem Biophys Res Commun; 2009 Apr 03; 381(2):210-3. PubMed ID: 19338775
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  • 2. 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 03; 18(12):1059-70. PubMed ID: 18820594
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  • 3. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
    Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, Zhao H, Garrido G, Mengesha E, Suzuki T, del Castillo I, Peters JL, Li R, Qian Y, Wang X, Ballana E, Shohat M, Lu J, Estivill X, Watanabe K, Fischel-Ghodsian N.
    Am J Hum Genet; 2006 Aug 03; 79(2):291-302. PubMed ID: 16826519
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  • 4. 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
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  • 5. Maternally transmitted aminoglycoside-induced and non-syndromic hearing loss caused by the 1494C > T mutation in the mitochondrial 12S rRNA gene in two Chinese families.
    Wei Q, Xu D, Chen Z, Li H, Lu Y, Liu C, Bu X, Xing G, Cao X.
    Int J Audiol; 2013 Feb 15; 52(2):98-103. PubMed ID: 23237192
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  • 6. Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations.
    Yan Q, Bykhovskaya Y, Li R, Mengesha E, Shohat M, Estivill X, Fischel-Ghodsian N, Guan MX.
    Biochem Biophys Res Commun; 2006 Apr 21; 342(4):1130-6. PubMed ID: 16513084
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  • 9. 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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  • 10. Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness.
    Otaegui D, Irizar H, Goicoechea M, Pérez-Tur J, Belar M, López de Munain A.
    Audiol Neurootol; 2008 Feb 17; 13(5):320-7. PubMed ID: 18391568
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  • 11. [Modifier factors influencing the phenotypic manifestation of the deafness associated mitochondrial DNA mutations].
    YANG AF, ZHENG J, LV JX, GUAN MX.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Apr 17; 28(2):165-71. PubMed ID: 21462128
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  • 12. 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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  • 13. Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation.
    Tang X, Yang L, Zhu Y, Liao Z, Wang J, Qian Y, Tao Z, Hu L, Wu G, Lan J, Wang X, Ji J, Wu J, Ji Y, Feng J, Chen J, Li Z, Zhang X, Lu J, Guan MX.
    Gene; 2007 May 15; 393(1-2):11-9. PubMed ID: 17341440
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  • 20. Association between idiopathic hearing loss and mitochondrial DNA mutations: a study on 169 hearing-impaired subjects.
    Guaran V, Astolfi L, Castiglione A, Simoni E, Olivetto E, Galasso M, Trevisi P, Busi M, Volinia S, Martini A.
    Int J Mol Med; 2013 Oct 15; 32(4):785-94. PubMed ID: 23969527
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