MITOMAP References for RNA Mutation G15927A

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Index PMID Date Reference
1 8899049 1996 Mayr-Wohlfart, U., Paulus, C., Henneberg, A., Rodel, G. (1996) Mitochondrial DNA mutations in multiple sclerosis patients with severe optic involvement Acta Neurologica Scandinavica . 94 (3): 167-171 .
2 9113500 1997 Mayr-Wohlfart, U., Rodel, G., Henneberg, A. (1997) Mitochondrial tRNA(Gln) and tRNA(Thr) gene variants in Parkinson's disease European Journal of Medical Research . 2 (3): 111-113 .
3 10680807 1999 Simon, D.K., Mayeux, R., Marder, K., Kowall, N.W., Beal, M.F., Johns, D.R. (1999) Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease Neurology . 54 (3): 703-709 .
4 18386806 2008 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, M. X. (2008) 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 American Journal of Medical Genetics. Part A . 146A (10): 1248-1258 .
5 18820594 2008 Wang, X., Lu, J., Zhu, Y., Yang, A., Yang, L., Li, R., Chen, B., Qian, Y., Tang, X., Wang, J., Zhang, X., Guan, M. X. (2008) Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families Pharmacogenetics and Genomics . 18 (12): 1059-1070 .
6 19818876 2010 Lu, J., Qian, Y., Li, Z., Yang, A., Zhu, Y., Li, R., Yang, L., Tang, X., Chen, B., Ding, Y., Li, Y., You, J., Zheng, J., Tao, Z., Zhao, F., Wang, J., Sun, D., Zhao, J., Meng, Y., Guan, M. X. (2010) Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation Mitochondrion . 10 (1): 69-81 .
7 23563965 2013 Levin, L., Zhidkov, I., Gurman, Y., Hawlena, H., Mishmar, D. (2013) Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease Genome Biology and Evolution . 5 (5): 876-890 .
8 23736300 2013 Jia, Z., Wang, X., Qin, Y., Xue, L., Jiang, P., Meng, Y., Shi, S., Wang, Y., Qin Mo, J., Guan, M. X. (2013) Coronary heart disease is associated with a mutation in mitochondrial tRNA Human Molecular Genetics . 22 (20): 4064-4073 .
9 24470521 2014 Qin, Y., Xue, L., Jiang, P., Xu, M., He, Y., Shi, S., Huang, Y., He, J., Mo, J. Q., Guan, M. X. (2014) Mitochondrial tRNA variants in Chinese subjects with coronary heart disease Journal of the American Heart Association . 3 (1): e000437 .
10 26782414 2015 Yin, S. L., Lan, C., Pei, H., Zhu, Z. Q. (2015) Mitochondrial transfer RNA mutations and hypertension Genetics and Molecular Research . 14 (4): 17692-17698 .
11 29225014 2018 Zhang, J., Ji, Y., Liu, X., Chen, J., Wang, B., Zhang, M., Guan, M. X. (2018) Leber's hereditary optic neuropathy caused by a mutation in mitochondrial tRNA(Thr) in eight Chinese pedigrees Mitochondrion . 42 (): 84-91 .
12 30541130 2019 Jia, Z., Zhang, Y., Li, Q., Ye, Z., Liu, Y., Fu, C., Cang, X., Wang, M., Guan, M. X. (2019) A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis Nucleic Acids Research . 47 (4): 2056-2074 .
13 30854964 2019 Ding, Y., Teng, Y. S., Zhuo, G. C., Xia, B. H., Leng, J. H. (2019) The mitochondrial tRNAHis G12192A mutation may modulate the clinical expression of deafness-associated tRNAThr G15927A mutation in a Chinese pedigree Current Molecular Medicine . 19 (2): 136-146 .
14 31965079 2020 Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 .