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 . |