MITOMAP References for RNA Mutation A4317G

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Index PMID Date Reference
1 1433821 1992 Ito, T., Hattori, K., Obayashi, T., Tanaka, M., Sugiyama, S., Ozawa, T. (1992) Mitochondrial DNA mutations in cardiomyopathy Japanese Circulation Journal . 56 (10): 1045-1053 .
2 1978914 1990 Tanaka, M., Ino, H., Ohno, K., Hattori, K., Sato, W., Ozawa, T., Tanaka, T., Itoyama, S. (1990) Mitochondrial mutation in fatal infantile cardiomyopathy Lancet . 336 (8728): 1452 .
3 7603519 1995 Tanaka, M., Obayashi, T., Yoneda, M., Kovalenko, S.A., Sugiyama, S., Ozawa, T. (1995) Mitochondrial DNA mutations in cardiomyopathy: combination of replacements yielding cysteine residues and tRNA mutations Muscle and Nerve . 3 (9): S165-169 .
4 23847141 2013 Bannwarth, S., Procaccio, V., Lebre, A. S., Jardel, C., Chaussenot, A., Hoarau, C., Maoulida, H., Charrier, N., Gai, X., Xie, H. M., Ferre, M., Fragaki, K., Hardy, G., Mousson de Camaret, B., Marlin, S., Dhaenens, C. M., Slama, A., Rocher, C., Paul Bonnefont, J., Rotig, A., Aoutil, N., Gilleron, M., Desquiret-Dumas, V., Reynier, P., Ceresuela, J., Jonard, L., Devos, A., Espil-Taris, C., Martinez, D., Gaignard, P., Le Quan Sang, K. H., Amati-Bonneau, P., Falk, M. J., Florentz, C., Chabrol, B., Durand-Zaleski, I., Paquis-Flucklinger, V. (2013) Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders Journal of Medical Genetics . 50 (10): 704-714 .
5 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 .
6 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 .
7 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 .
8 9466989 1998 Degoul, F., Brule, H., Cepanec, C., Helm, M., Marsac, C., Leroux, J., Giege, R., Florentz, C. (1998) Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene Human Molecular Genetics . 7 (3): 347-354 .
9 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
10 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 .
11 29348176 2018 Meng, F., He, Z., Tang, X., Zheng, J., Jin, X., Zhu, Y., Ren, X., Zhou, M., Wang, M., Gong, S., Mo, J. Q., Shu, Q., Guan, M. X. (2018) Contribution of the tRNA(Ile) 4317A-->G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A-->G mutation The Journal of Biological Chemistry . 293 (9): 3321-3334 .
12 30272361 2018 Cui, Y., He, D. J. (2018) Mitochondrial tRNAIle A4317G mutation may be associated with hearing impairment in a Han Chinese family Mol Med Rep . 18 (6): 5159-5165 .
13 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 .