Index | PMID | Date | Reference |
---|---|---|---|
1 | 8889580 | 1996 | Merante, F., Myint, T., Tein, I., Benson, L., Robinson, B. H. (1996) An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy Human Mutation . 8 (3): 216-222 . |
2 | 11406419 | 2001 | Finnila, S., Hassinen, I. E., Majamaa, K. (2001) Phylogenetic analysis of mitochondrial DNA in patients with an occipital stroke. Evaluation of mutations by using sequence data on the entire coding region Mutation Research . 458 (40545): 31-39 . |
3 | 12655007 | 2003 | Levinger, L., Giege, R., Florentz, C. (2003) Pathology-related substitutions in human mitochondrial tRNA(Ile) reduce precursor 3' end processing efficiency in vitro Nucleic Acids Research . 31 (7): 1904-1912 . |
4 | 15477393 | 2004 | Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 . |
5 | 16947981 | 2006 | Ruiz-Pesini, E., Wallace, D. C. (2006) Evidence for adaptive selection acting on the tRNA and rRNA genes of the human mitochondrial DNA Human Mutation . 27 (11): 1072-1081 . |
6 | 18177739 | 2008 | Li, Z., Liu, Y., Yang, L., Wang, S., Guan, M. X. (2008) Maternally inherited hypertension is associated with the mitochondrial tRNA(Ile) A4295G mutation in a Chinese family Biochemical and Biophysical Research Communications . 367 (4): 906-911 . |
7 | 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 . |
8 | 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 . |
9 | 21263444 | 2012 | Rossignol, D. A., Frye, R. E. (2012) Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis Molecular Psychiatry . 17 (3): 290-314 . |
10 | 22241583 | 2012 | Gutierrez Cortes, N., Pertuiset, C., Dumon, E., Borlin, M., Hebert-Chatelain, E., Pierron, D., Feldmann, D., Jonard, L., Marlin, S., Letellier, T., Rocher, C. (2012) Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss Human Mutation . 33 (4): 681-689 . |
11 | 29253894 | 2017 | Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 . |
12 | 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 . |
13 | 33398350 | 2021 | Meng, F., Zhou, M., Xiao, Y., Mao, X., Zheng, J., Lin, J., Lin, T., Ye, Z., Cang, X., Fu, Y., Wang, M., Guan, M. X. (2021) A deafness-associated tRNA mutation caused pleiotropic effects on the m1G37 modification, processing, stability and aminoacylation of tRNAIle and mitochondrial translation Nucleic Acids Research . 49 (2): 1075-1093 . |