Index | PMID | Date | Reference |
---|---|---|---|
1 | 9571188 | 1998 | Kameoka, K., Isotani, H., Tanaka, K., Azukari, K., Fujimura, Y., Shiota, Y., Sasaki, E., Majima, M., Furukawa, K., Haginomori, S., Kitaoka, H., Ohsawa, N. (1998) Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes Biochemical and Biophysical Research Communications . 245 (2): 523-527 . |
2 | 9802769 | 1998 | Kameoka, K., Isotani, H., Tanaka, K., Kitaoka, H., Ohsawa, N. (1998) Impaired insulin secretion in Japanese diabetic subjects with an A-to-G mutation at nucleotide 8296 of the mitochondrial DNA in tRNA(Lys) Diabetes Care . 21 (11): 2034-2035 . |
3 | 9932960 | 1999 | Arenas, J., Campos, Y., Bornstein, B., Ribacoba, R., Martin, M. A., Rubio, J. C., Santorelli, F. M., Zeviani, M., DiMauro, S., Garesse, R. (1999) A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers Neurology . 52 (2): 377-382 . |
4 | 10220138 | 1999 | Fischel-Ghodsian, N. (1999) Mitochondrial deafness mutations reviewed Human Mutation . 13 (4): 261-270 . |
5 | 10525672 | 1999 | Isotani, H., Kameoka, K., Nagano, Y., Kitaoka, H., Ohsawa, N. (1999) Characteristic neuroimaging findings in patients with diabetes and the 8296 mitochondrial tRNA(Lys) Diabetologia . 42 (10): 1266-1267 . |
6 | 10737988 | 2000 | Akita, Y., Koga, Y., Iwanaga, R., Wada, N., Tsubone, J., Fukuda, S., Nakamura, Y., Kato, H. (2000) Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNA(Lys) gene Human Mutation . 15 (4): 382 . |
7 | 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 . |
8 | 11857739 | 2002 | Bornstein, B., Mas, J. A., Fernandez-Moreno, M. A., Campos, Y., Martin, M. A., del Hoyo, P., Rubio, J. C., Arenas, J., Garesse, R. (2002) The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines Human Mutation . 19 (3): 234-239 . |
9 | 12504210 | 2002 | Sakuta, R., Honzawa, S., Murakami, N., Goto, Y., Nagai, T. (2002) Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation Pediatric Neurology . 27 (5): 397-400 . |
10 | 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 . |
11 | 15126302 | 2004 | Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 . |
12 | 15477393 | 2004 | Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 . |
13 | 15554876 | 2005 | Bornstein, B., Mas, J. A., Patrono, C., Fernandez-Moreno, M. A., Gonzalez-Vioque, E., Campos, Y., Carrozzo, R., Martin, M. A., del Hoyo, P., Santorelli, F. M., Arenas, J., Garesse, R. (2005) Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene Biochemical Journal . 387 (Pt 3): 773-778 . |
14 | 18651333 | 2008 | Ahadi, A. M., Sadeghizadeh, M., Houshmand, M., Gharagoozli, K., Banoei, M. M., Panahai, M. S. (2008) An A8296G mutation in the MT-TK gene of a patient with epilepsy - a disease-causing mutation or rare polymorphism? Neurologia i Neurochirurgia Polska . 42 (3): 263-266 . |
15 | 19370763 | 2009 | Dobrowolski, S. F., Gray, J., Miller, T., Sears, M. (2009) Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling Human Mutation (Online) . 30 (6): 891-898 . |
16 | 24689073 | 2014 | Gonzalez-Vioque, E., Bornstein, B., Gallardo, M. E., Fernandez-Moreno, M. A., Garesse, R. (2014) The pathogenicity scoring system for mitochondrial tRNA mutations revisited Molecular Genetics and Genomic Medicine . 2 (2): 107-114 . |