MITOMAP References for RNA Mutation A8348G

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Index PMID Date Reference
1 11446509 2001 Terasaki, F., Tanaka, M., Kawamura, K., Kanzaki, Y., Okabe, M., Hayashi, T., Shimomura, H., Ito, T., Suwa, M., Gong, J. S., Zhang, J., Kitaura, Y. (2001) A case of cardiomyopathy showing progression from the hypertrophic to the dilated form: association of Mt8348A-->G mutation in the mitochondrial tRNA(Lys) gene with severe ultrastructural alterations of mitochondria in cardiomyocytes Japanese Circulation Journal . 65 (7): 691-694 .
2 15100439 2004 Sissler, M., Helm, M., Frugier, M., Giege, R., Florentz, C. (2004) Aminoacylation properties of pathology-related human mitochondrial tRNA(Lys) variants RNA . 10 (5): 841-853 .
3 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
4 16337222 2006 Ueki, I., Koga, Y., Povalko, N., Akita, Y., Nishioka, J., Yatsuga, S., Fukiyama, R., Matsuishi, T. (2006) Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis Mitochondrion . 6 (1): 29-36 .
5 18252214 2008 Rajasimha, H. K., Chinnery, P. F., Samuels, D. C. (2008) Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood American Journal of Human Genetics . 82 (2): 333-343 .
6 19778529 2009 Zhu, H. Y., Wang, S. W., Liu, L., Chen, R., Wang, L., Gong, X. L., Zhang, M. L. (2009) Genetic variants in mitochondrial tRNA genes are associated with essential hypertension in a Chinese Han population Clinica Chimica Acta . 410 (40545): 64-69 .
7 20064630 2010 Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 .
8 20111055 2010 Kato, T., Nishigaki, Y., Noguchi, Y., Ueno, H., Hosoya, H., Ito, T., Kimura, Y., Kitamura, K., Tanaka, M. (2010) Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss Journal of Human Genetics . 55 (3): 147-154 .
9 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 .