MITOMAP References for Variant T12201C at 12201

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PMID Reference
NA Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub ( 798264 .
31965079 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 .
21931169 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 .
23463613 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.
31819004 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 .
24920829 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 .
33064405 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 .
32169613 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 .
22538251 Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 .