Index | PMID | Date | Reference |
---|---|---|---|
1 | 21931169 | 2011 | Yan, X., Wang, X., Wang, Z., Sun, S., Chen, G., He, Y., Mo, J. Q., Li, R., Jiang, P., Lin, Q., Sun, M., Li, W., Bai, Y., Zhang, J., Zhu, Y., Lu, J., Yan, Q., Li, H., Guan, M. X. (2011) Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene Journal of Medical Genetics . 48 (10): 682-90 . |
2 | 22538251 | 2012 | Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 . |
3 | 23463613 | 2013 | Tang, S., Wang, J., Zhang, W., Li, F., Landsverk, M., Cui, H., Truong, C., Wang, G., Li, C., Graham, B., Scaglia, F., Schmitt, E. S., Craigen, W. J., Wong, L. C. (2013) Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects Human Mutation . 34 (6): 882-893 Most reported SNVs are not found in the body of the paper itself but are listed in the supplemental information as Unclassified Variants. |
4 | 24920829 | 2014 | Gong, S., Peng, Y., Jiang, P., Wang, M., Fan, M., Wang, X., Zhou, H., Li, H., Yan, Q., Huang, T., Guan, M. X. (2014) A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential Nucleic Acids Research . 42 (12): 8039-8048 . |
5 | 31819004 | 2020 | Gong, S., Wang, X., Meng, F., Cui, L., Yi, Q., Zhao, Q., Cang, X., Cai, Z., Mo, J. Q., Liang, Y., Guan, M. X. (2020) Overexpression of mitochondrial histidyl-tRNA synthetase restores mitochondrial dysfunction caused by a deafness-associated tRNA(His) mutation The Journal of Biological Chemistry 295 (4): 940-954 . |
6 | 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 . |
7 | 32169613 | 2020 | Zheng, J., Bai, X., Xiao, Y., Ji, Y., Meng, F., Aishanjiang, M., Gao, Y., Wang, H., Fu, Y., Guan, M. X. (2020) Mitochondrial tRNA mutations in 887 Chinese subjects with hearing loss Mitochondrion . 52 (): 163-172 . |
8 | 33064405 | 2020 | Vellers, H. L., Verhein, K. C., Burkholder, A. B., Lee, J., Kim, Y., Lightfoot, J. T., Shi, M., Weinberg, C. R., Sarzynski, M. A., Bouchard, C., Kleeberger, S. R. (2020) Association between mitochondrial DNA sequence variants and V O2 max trainability Medicine and Science in Sports and Exercise . 52 (11): 2303-2309 . |