Index | PMID | Date | Reference |
---|---|---|---|
1 | 1709275 | 1991 | Lauber, J., Marsac, C., Kadenbach, B., Seibel, P. (1991) Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases Nucleic Acids Research . 19 (7): 1393-1397 . |
2 | 1757091 | 1991 | Marzuki, S., Noer, A. S., Letrit, P., Thyagarajan, D., Kapsa, R., Utthanaphol, P., Byrne, E. (1991) Normal variants of human mitochondrial DNA and translation products: the building of a reference data base Human Genetics . 88 (2): 139-145 . |
3 | 1910259 | 1991 | Noer, A.S., Sudoya, H., Lertrit, P., Thyagarajan, D., Utthanaphol, P., Kapsa, R., Byrne, E., Marzuki, S. (1991) A tRNALys mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome American Journal of Human Genetics . 49 (4): 715-722 . |
4 | 1542564 | 1992 | van den Ouweland, J. M., Bruining, G. J., Lindhout, D., Wit, J. M., Veldhuyzen, B. F., Maassen, J. A. (1992) Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia Nucleic Acids Research . 20 (4): 679-682 . |
5 | 8254046 | 1993 | Moraes, C. T., Ciacci, F., Bonilla, E., Jansen, C., Hirano, M., Rao, N., Lovelace, R. E., Rowland, L. P., Schon, E. A., DiMauro, S. (1993) Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNALeu(UUR) gene an etiologic hot spot? Journal of Clinical Investigation . 92 (6): 2906-2915 . |
6 | 8079988 | 1994 | Merante, F., Tein, I., Benson, L., Robinson, B. H. (1994) Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene American Journal of Human Genetics . 55 (3): 437-446 . |
7 | 8155739 | 1994 | Houshmand, M., Larsson, N.G., Holme, E., Oldfors, A., Tulinius, M.H., Andersen, O. (1994) Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy Biochimica et Biophysica Acta . 1226 (1): 49-55 . |
8 | 9384601 | 1998 | Sternberg, D., Danan, C., Lombes, A., Laforet, P., Girodon, E., Goossens, M., Amselem, S. (1998) Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders Human Molecular Genetics . 7 (1): 33-42 . |
9 | 11145497 | 2000 | Pulkes, T., Sweeney, M. G., Hanna, M. G. (2000) Increased risk of stroke in patients with the A12308G polymorphism in mitochondria Lancet . 356 (9247): 2068-2069 . |
10 | 11313776 | 2001 | Grasso, M., Diegoli, M., Brega, A., Campana, C., Tavazzi, L., Arbustini, E. (2001) The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathy European Journal of Human Genetics . 9 (4): 311-315 . |
11 | 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 . |
12 | 14571278 | 2003 | Crimi, M., Del Bo, R., Galbiati, S., Sciacco, M., Bordoni, A., Bresolin, N., Comi, G. P. (2003) Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion European Journal of Human Genetics . 11 (11): 896-898 . |
13 | 16406974 | 2006 | Booker, L. M., Habermacher, G. M., Jessie, B. C., Sun, Q. C., Baumann, A. K., Amin, M., Lim, S. D., Fernandez-Golarz, C., Lyles, R. H., Brown, M. D., Marshall, F. F., Petros, J. A. (2006) North American white mitochondrial haplogroups in prostate and renal cancer Journal of Urology . 175 (2): 468-472; discussion 472-473 . |
14 | 16773565 | 2006 | Saxena, R., de Bakker, P. I., Singer, K., Mootha, V., Burtt, N., Hirschhorn, J. N., Gaudet, D., Isomaa, B., Daly, M. J., Groop, L., Ardlie, K. G., Altshuler, D. (2006) Comprehensive association testing of common mitochondrial DNA variation in metabolic disease American Journal of Human Genetics . 79 (1): 54-61 . |
15 | 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 . |
16 | 18502698 | 2008 | Zifa, E., Theotokis, P., Kaminari, A., Maridaki, H., Leze, H., Petsiava, E., Mamuris, Z., Stathopoulos, C. (2008) A novel G3337A mitochondrial ND1 mutation related to cardiomyopathy co-segregates with tRNALeu(CUN) A12308G and tRNAThr C15946T mutations Mitochondrion . 8 (3): 229-236 . |
17 | 18709563 | 2008 | Covarrubias, D., Bai, R. K., Wong, L. J., Leal, S. M. (2008) Mitochondrial DNA variant interactions modify breast cancer risk Journal of Human Genetics . 53 (10): 924-928 . |
18 | 19290059 | 2009 | Rollins, B., Martin, M. V., Sequeira, P. A., Moon, E. A., Morgan, L. Z., Watson, S. J., Schatzberg, A., Akil, H., Myers, R. M., Jones, E. G., Wallace, D. C., Bunney, W. E., Vawter, M. P. (2009) Mitochondrial variants in schizophrenia, bipolar disorder, and major depressive disorder PLoS One . 4 (3): e4913 . |
19 | 24667788 | 2015 | Zhang, J., Zhang, Z. X., Du, P. C., Zhou, W., Wu, S. D., Wang, Q. L., Chen, C., Shi, Q., Chen, C., Gao, C., Tian, C., Dong, X. P. (2015) Analyses of the mitochondrial mutations in the Chinese patients with sporadic Creutzfeldt-Jakob disease European Journal of Human Genetics . 23 (1): 86-91 . |
20 | 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 . |