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 . |