Index | PMID | Date | Reference |
---|---|---|---|
1 | 20142618 | 2010 | Zsurka, G., Hampel, K. G., Nelson, I., Jardel, C., Mirandola, S. R., Sassen, R., Kornblum, C., Marcorelles, P., Lavoue, S., Lombes, A., Kunz, W. S. (2010) Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene Neurology . 74 (6): 507-512 . |
2 | 28267784 | 2017 | Connor, T. M., Hoer, S., Mallett, A., Gale, D. P., Gomez-Duran, A., Posse, V., Antrobus, R., Moreno, P., Sciacovelli, M., Frezza, C., Duff, J., Sheerin, N. S., Sayer, J. A., Ashcroft, M., Wiesener, M. S., Hudson, G., Gustafsson, C. M., Chinnery, P. F., Maxwell, P. H. (2017) Mutations in mitochondrial DNA causing tubulointerstitial kidney disease PLoS Genetics . 13 (3): e1006620 . |
3 | 31722346 | 2020 | Lorenz, R., Ahting, U., Betzler, C., Heimering, S., Borggrafe, I., Lange-Sperandio, B. (2020) Homoplasmy of the mitochondrial DNA mutation m.616T>C leads to mitochondrial tubulointerstitial kidney disease and encephalopathia Nephron . 144 (3): 156-160 . |
4 | 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 . |
5 | 34607911 | 2022 | Viering, D., Schlingmann, K. P., Hureaux, M., Nijenhuis, T., Mallett, A., Chan, M. M. Y., van Beek, A., van Eerde, A. M., Coulibaly, J. M., Vallet, M., Decramer, S., Pelletier, S., Klaus, G., Komhoff, M., Beetz, R., Patel, C., Shenoy, M., Steenbergen, E. J., Anderson, G., Bongers, E., Bergmann, C., Panneman, D., Rodenburg, R. J., Kleta, R., Houillier, P., Konrad, M., Vargas-Poussou, R., Knoers, N., Bockenhauer, D., de Baaij, J. H. F., Genomics England Research Consortium (2022) Gitelman-like syndrome caused by pathogenic variants in mtDNA Journal of the American Society of Nephrology . 33 (2): 305-325 . |
6 | 35472031 | 2022 | Xu, C., Tong, L., Rao, J., Ye, Q., Chen, Y., Zhang, Y., Xu, J., Mao, X., Meng, F., Shen, H., Lu, Z., Cang, X., Fu, H., Wang, S., Gu, W., Lai, E. Y., Guan, M. X., Jiang, P., Mao, J. (2022) Heteroplasmic and homoplasmic m.616T>C in mitochondria tRNAPhe promote isolated chronic kidney disease and hyperuricemia JCI Insight . 7 (11): . |