MITOMAP References for RNA Mutation A12308G

Download PMID list

Index PMID Date Reference
1 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 .
2 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 .
3 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 .
4 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 .
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 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 .
7 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 .
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 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 .
11 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 .
12 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 .
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 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 .
15 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 .
16 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 .
17 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 .
18 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 .
19 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 .
20 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 .