Index | PMID | Date | Reference |
---|---|---|---|
1 | 10371545 | 1999 | Sue, C. M., Tanji, K., Hadjigeorgiou, G., Andreu, A. L., Nishino, I., Krishna, S., Bruno, C., Hirano, M., Shanske, S., Bonilla, E., Fischel-Ghodsian, N., DiMauro, S., Friedman, R. (1999) Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene Neurology . 52 (9): 1905-1908 . |
2 | 10760311 | 2000 | Willems, P. J. (2000) Genetic causes of hearing loss New England Journal of Medicine . 342 (15): 1101-1109 . |
3 | 10905659 | 2000 | Van Camp, G., Smith, R. J. (2000) Maternally inherited hearing impairment Clinical Genetics . 57 (6): 409-414 . |
4 | 11215518 | 2000 | Hutchin, T. P., Cortopassi, G. A. (2000) Mitochondrial defects and hearing loss Cellular and Molecular Life Sciences . 57 (13-14): 1927-1937 |
5 | 12172268 | 2002 | Ishikawa, K., Tamagawa, Y., Takahashi, K., Kimura, H., Kusakari, J., Hara, A., Ichimura, K. (2002) Nonsyndromic hearing loss caused by a mitochondrial T7511C mutation Laryngoscope . 112 (8 Pt 1): 1494-1499 . |
6 | 12461693 | 2002 | Chapiro, E., Feldmann, D., Denoyelle, F., Sternberg, D., Jardel, C., Eliot, M. M., Bouccara, D., Weil, D., Garabedian, E. N., Couderc, R., Petit, C., Marlin, S. (2002) Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor European Journal of Human Genetics . 10 (12): 851-856 . |
7 | 14960712 | 2004 | Li, X., Fischel-Ghodsian, N., Schwartz, F., Yan, Q., Friedman, R. A., Guan, M. X. (2004) Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness Nucleic Acids Research . 32 (3): 867-77 . |
8 | 15126302 | 2004 | Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 . |
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 | 15292920 | 2005 | Jacobs, H. T., Hutchin, T. P., Kappi, T., Gillies, G., Minkkinen, K., Walker, J., Thompson, K., Rovio, A. T., Carella, M., Melchionda, S., Zelante, L., Gasparini, P., Pyykko, I., Shah, Z. H., Zeviani, M., Mueller, R. F. (2005) Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment European Journal of Human Genetics . 13 (1): 26-33 . |
11 | 15670746 | 2005 | Li, R., Ishikawa, K., Deng, J. H., Heman-Ackah, S., Tamagawa, Y., Yang, L., Bai, Y., Ichimura, K., Guan, M. X. (2005) Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNA(Ser(UCN)) gene in a Japanese family Biochemical and Biophysical Research Communications . 328 (1): 32-37 . |
12 | 16361254 | 2006 | Yan, H., Zareen, N., Levinger, L. (2006) Naturally occurring mutations in human mitochondrial pre-tRNASer(UCN) can affect the transfer ribonuclease Z cleavage site, processing kinetics, and substrate secondary structure Journal of Biological Chemistry . 281 (7): 3926-3935 . |
13 | 17489842 | 2007 | Kokotas, H., Petersen, M. B., Willems, P. J. (2007) Mitochondrial deafness Clinical Genetics . 71 (5): 379-391 . |
14 | 17637808 | 2007 | Leveque, M., Marlin, S., Jonard, L., Procaccio, V., Reynier, P., Amati-Bonneau, P., Baulande, S., Pierron, D., Lacombe, D., Duriez, F., Francannet, C., Mom, T., Journel, H., Catros, H., Drouin-Garraud, V., Obstoy, M. F., Dollfus, H., Eliot, M. M., Faivre, L., Duvillard, C., Couderc, R., Garabedian, E. N., Petit, C., Feldmann, D., Denoyelle, F. (2007) Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip European Journal of Human Genetics . 15 (11): 1145-1155 . |
15 | 18340555 | 2007 | Yamasoba, T., Tsukuda, K., Suzuki, M. (2007) Isolated hearing loss associated with T7511C mutation in mitochondrial DNA Acta Oto-Laryngologica . 127 (Suppl 559): 13-18 . |
16 | 20064630 | 2010 | Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 . |
17 | 22538251 | 2012 | Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 . |
18 | 25968158 | 2015 | Tang, X., Zheng, J., Ying, Z., Cai, Z., Gao, Y., He, Z., Yu, H., Yao, J., Yang, Y., Wang, H., Chen, Y., Guan, M. X. (2015) Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss Mitochondrion . 23 (): 17-24 . |
19 | 26279247 | 2015 | Chen, D. Y., Zhu, W. D., Chai, Y. C., Chen, Y., Sun, L., Yang, T., Wu, H. (2015) Mutation in PCDH15 may modify the phenotypic expression of the 7511T>C mutation in MT-TS1 in a Chinese Han family with maternally inherited nonsyndromic hearing loss International Journal of Pediatric Otorhinolaryngology . 79 (10): 1654-1657 . |
20 | 28320335 | 2017 | Mutai, H., Watabe, T., Kosaki, K., Ogawa, K., Matsunaga, T. (2017) Mitochondrial mutations in maternally inherited hearing loss BMC Medical Genetics . 18 (1): 32 . |
21 | 29257206 | 2018 | Lechowicz, U., Pollak, A., Fraczak, A., Rydzanicz, M., Stawinski, P., Lorens, A., Skarzynski, P. H., Skarzynski, H., Ploski, R., Oldak, M. (2018) Application of nextgeneration sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss Molecular Medicine Reports . 17 (1): 1782-1790 . |
22 | NA | 2019 | Fan, W., Zheng, J., Kong, W., Cui, L., Aishanjiang, M., Yi, Q., Wang, M., Cang, X., Tang, X., Chen, Y., Mo, J. Q., Sondheimer, N., Ge, W., Guan, M. X. (2019) Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNASer(UCN) 7511A>G mutation The Journal of Biological Chemistry (in press) . (): . |
23 | 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 . |
24 | 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 . |