Index | PMID | Date | Reference |
---|---|---|---|
1 | 10371545 | 1999 | Sue, C. M., Tanji, K., Hadjigeorgiou, G., Andreu, A. L., Nishino, I., Krishna, S., Bruno, C., Hirano, M., Shanske, S., Bonilla, E., Fischel-Ghodsian, N., DiMauro, S., Friedman, R. (1999) Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene Neurology . 52 (9): 1905-1908 . |
2 | 10521313 | 1999 | Rocha, H., Flores, C., Campos, Y., Arenas, J., Vilarinho, L., Santorelli, F.M., Torroni, A. (1999) About the 'pathological' role of the mtDNA T3308C mutation... American Journal of Human Genetics . 65 (5): 1457-1459 . |
3 | 11938495 | 2002 | Herrnstadt, C., Elson, J. L., Fahy, E., Preston, G., Turnbull, D. M., Anderson, C., Ghosh, S. S., Olefsky, J. M., Beal, M. F., Davis, R. E., Howell, N. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups American Journal of Human Genetics . 70 (5): 1152-1171 . |
4 | 14960712 | 2004 | Li, X., Fischel-Ghodsian, N., Schwartz, F., Yan, Q., Friedman, R. A., Guan, M. X. (2004) Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness Nucleic Acids Research . 32 (3): 867-77 . |
5 | 21041797 | 2011 | Batini, C., Lopes, J., Behar, D. M., Calafell, F., Jorde, L. B., van der Veen, L., Quintana-Murci, L., Spedini, G., Destro-Bisol, G., Comas, D. (2011) Insights into the demographic history of African Pygmies from complete mitochondrial genomes Molecular Biology and Evolution . 28 (2): 1099-1110 . |
6 | 21741027 | 2011 | Shah, A. M., Tamang, R., Moorjani, P., Rani, D. S., Govindaraj, P., Kulkarni, G., Bhattacharya, T., Mustak, M. S., Bhaskar, L. V., Reddy, A. G., Gadhvi, D., Gai, P. B., Chaubey, G., Patterson, N., Reich, D., Tyler-Smith, C., Singh, L., Thangaraj, K. (2011) Indian Siddis: African descendants with Indian admixture American Journal of Human Genetics . 89 (1): 154-161 . |
7 | 22538251 | 2012 | Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 . |
8 | 24002810 | 2013 | Kang, L., Zheng, H. X., Chen, F., Yan, S., Liu, K., Qin, Z., Liu, L., Zhao, Z., Li, L., Wang, X., He, Y., Jin, L. (2013) mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands. [Supplementary Materials online.] Molecular Biology and Evolution . 30 (12): 2579-2587 . |
9 | NA | 2014 | van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb . |
10 | 25968158 | 2015 | Tang, X., Zheng, J., Ying, Z., Cai, Z., Gao, Y., He, Z., Yu, H., Yao, J., Yang, Y., Wang, H., Chen, Y., Guan, M. X. (2015) Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss Mitochondrion . 23 (): 17-24 . |
11 | 27161322 | 2016 | Jiang, P., Wang, M., Xue, L., Xiao, Y., Yu, J., Wang, H., Yao, J., Liu, H., Peng, Y., Liu, H., Li, H., Chen, Y., Guan, M. X. (2016) A hypertension-associated tRNAAla mutation alters tRNA metabolism and mitochondrial function Molecular and Cellular Biology . 36 (14): 1920-1930 . |
12 | 27544295 | 2016 | Xue, L., Wang, M., Li, H., Wang, H., Jiang, F., Hou, L., Geng, J., Lin, Z., Peng, Y., Zhou, H., Yu, H., Jiang, P., Mo, J. Q., Guan, M. X. (2016) Mitochondrial tRNA mutations in 2070 Chinese Han subjects with hypertension Mitochondrion . 30 (): 208-21 . |
13 | 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 . |
14 | 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 . |
15 | 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 . |
16 | 34991096 | 2022 | Qi, Y., Wu, Z., Bai, Y., Jiao, Y., Li, P. (2022) Screening for mitochondrial tRNA mutations in 318 patients with dilated cardiomyopathy Human Heredity . 87 (1): 1-11 . |