MITOMAP References for Variant T>C at 5655

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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 .