MITOMAP References for Variant T7511C at 7511

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PMID Reference
10371545 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 .
12461693 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 .
NA Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub (https://www.biorxiv.org/content/10.1101/798264v3): 798264 .
31965079 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 .
10905659 Van Camp, G., Smith, R. J. (2000) Maternally inherited hearing impairment Clinical Genetics . 57 (6): 409-414 .
14960712 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 .
15126302 Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 .
15670746 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 .
10760311 Willems, P. J. (2000) Genetic causes of hearing loss New England Journal of Medicine . 342 (15): 1101-1109 .
16361254 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 .
15477393 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
18340555 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 .
12172268 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 .
17637808 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 .
11215518 Hutchin, T. P., Cortopassi, G. A. (2000) Mitochondrial defects and hearing loss Cellular and Molecular Life Sciences . 57 (13-14): 1927-1937
15292920 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 .
20064630 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 .
17489842 Kokotas, H., Petersen, M. B., Willems, P. J. (2007) Mitochondrial deafness Clinical Genetics . 71 (5): 379-391 .
29257206 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 .
28320335 Mutai, H., Watabe, T., Kosaki, K., Ogawa, K., Matsunaga, T. (2017) Mitochondrial mutations in maternally inherited hearing loss BMC Medical Genetics . 18 (1): 32 .
NA 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) . (): .
26279247 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 .
25968158 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 .
32169613 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 .
22538251 Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 .