MITOMAP References for Variant C1494T at 1494

Download PMID list

PMID Reference
14681830 Zhao, H., Li, R., Wang, Q., Yan, Q., Deng, J. H., Han, D., Bai, Y., Young, W. Y., Guan, M. X. (2004) Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family American Journal of Human Genetics . 74 (1): 139-152 .
16947981 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 .
16826519 Guan, M. X., Yan, Q., Li, X., Bykhovskaya, Y., Gallo-Teran, J., Hajek, P., Umeda, N., Zhao, H., Garrido, G., Mengesha, E., Suzuki, T., del Castillo, I., Peters, J. L., Li, R., Qian, Y., Wang, X., Ballana, E., Shohat, M., Lu, J., Estivill, X., Watanabe, K., Fischel-Ghodsian, N. (2006) Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations American Journal of Human Genetics . 79 (2): 291-302 .
19144107 Bardien, S., Human, H., Harris, T., Hefke, G., Veikondis, R., Schaaf, H. S., van der Merwe, L., Greinwald, J. H., Fagan, J., de Jong, G. (2009) A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness BMC Medical Genetics . 10 (-): 2 .
20860455 Pacheu-Grau, D., Gomez-Duran, A., Montoya, J., Ruiz-Pesini, E. (2010) Influence of mtDNA genetic variation on antibiotic therapy Pharmacogenomics . 11 (9): 1185-1187 .
25838379 Amunts, A., Brown, A., Toots, J., Scheres, S. H., Ramakrishnan, V. (2015) Ribosome. The structure of the human mitochondrial ribosome Science . 348 (6230): 95-98 .
25837512 Greber, B. J., Bieri, P., Leibundgut, M., Leitner, A., Aebersold, R., Boehringer, D., Ban, N. (2015) Ribosome. The complete structure of the 55S mammalian mitochondrial ribosome Science . 348 (6232): 303-308 .
29253894 Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 .
24092330 Smith, P. M., Elson, J. L., Greaves, L. C., Wortmann, S. B., Rodenburg, R. J., Lightowlers, R. N., Chrzanowska-Lightowlers, Z. M., Taylor, R. W., Vila-Sanjurjo, A. (2014) The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential Human Molecular Genetics . 23 (4): 949-967 .
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 .
15126302 Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 .
15722487 Zhao, H., Young, W. Y., Yan, Q., Li, R., Cao, J., Wang, Q., Li, X., Peters, J. L., Han, D., Guan, M. X. (2005) Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss Nucleic Acids Research . 33 (3): 1132-1139 .
16380089 Wang, Q., Li, Q. Z., Han, D., Zhao, Y., Zhao, L., Qian, Y., Yuan, H., Li, R., Zhai, S., Young, W. Y., Guan, M. X. (2006) Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation Biochemical and Biophysical Research Communications . 340 (2): 583-588 .
17434445 Han, D., Dai, P., Zhu, Q., Liu, X., Huang, D., Yuan, Y., Yuan, H., Wang, X., Qian, Y., Young, W. Y., Guan, M. X. (2007) The mitochondrial tRNA(Ala) T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss Biochemical and Biophysical Research Communications . 357 (2): 554-560 .
17698030 Yuan, H., Chen, J., Liu, X., Cheng, J., Wang, X., Yang, L., Yang, S., Cao, J., Kang, D., Dai, P., Zhai, S., Han, D., Young, W. Y., Guan, M. X. (2007) Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss Biochemical and Biophysical Research Communications . 362 (1): 94-100 .
17698299 Chen, J., Yang, L., Yang, A., Zhu, Y., Zhao, J., Sun, D., Tao, Z., Tang, X., Wang, J., Wang, X., Tsushima, A., Lan, J., Li, W., Wu, F., Yuan, Q., Ji, J., Feng, J., Wu, C., Liao, Z., Li, Z., Greinwald, J. H., Lu, J., Guan, M. X. (2007) Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees Gene . 401 (40545): 4-11 .
18308926 Hobbie, S. N., Bruell, C. M., Akshay, S., Kalapala, S. K., Shcherbakov, D., Bottger, E. C. (2008) Mitochondrial deafness alleles confer misreading of the genetic code Proceedings of the National Academy of Sciences of the United States of America . 105 (9): 3244-3249 .
18325329 Mkaouar-Rebai, E., Tlili, A., Masmoudi, S., Charfeddine, I., Fakhfakh, F. (2008) New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss Biochemical and Biophysical Research Communications . 369 (3): 849-852 .
16458854 Ballana, E., Morales, E., Rabionet, R., Montserrat, B., Ventayol, M., Bravo, O., Gasparini, P., Estivill, X. (2006) Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment Biochemical and Biophysical Research Communications . 341 (4): 950-957 .
19687236 Qian, Y., Guan, M. X. (2009) Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation Antimicrobial Agents and Chemotherapy . 53 (11): 4612-4618 .
20100600 Lu, J., Li, Z., Zhu, Y., Yang, A., Li, R., Zheng, J., Cai, Q., Peng, G., Zheng, W., Tang, X., Chen, B., Chen, J., Liao, Z., Yang, L., Li, Y., You, J., Ding, Y., Yu, H., Wang, J., Sun, D., Zhao, J., Xue, L., Wang, J., Guan, M. X. (2010) Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss Mitochondrion . 10 (4): 380-390 .
16890911 Wang, C. Y., Kong, Q. P., Yao, Y. G., Zhang, Y. P. (2006) mtDNA mutation C1494T, haplogroup A, and hearing loss in Chinese Biochemical and Biophysical Research Communications . 348 (2): 712-715 .
21495045 Ealy, M., Lynch, K. A., Meyer, N. C., Smith, R. J. (2011) The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population Laryngoscope . 121 (6): 1184-1186 .
17489842 Kokotas, H., Petersen, M. B., Willems, P. J. (2007) Mitochondrial deafness Clinical Genetics . 71 (5): 379-391 .
21047563 Guan, M. X. (2011) Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity Mitochondrion . 11 (2): 237-45 .
29707576 Wang, C., Wang, S., Chen, H., Lu, D. (2018) Establishment of a gene detection system for hotspot mutations of hearing loss Biomed Research International . 2018 (): 6828306 .
28901477 Duan, S. H., Ma, J. L., Yang, X. L., Guo, Y. F. (2017) Simultaneous multigene mutation screening using SNPscan in patients from ethnic minorities with nonsyndromic hearingimpairment in Northwest China Molecular Medicine Reports . 16 (5): 6722-6728 .
30523288 Igumnova, V., Veidemane, L., Viksna, A., Capligina, V., Zole, E., Ranka, R. (2019) The prevalence of mitochondrial mutations associated with aminoglycoside-induced deafness in ethnic Latvian population: the appraisal of the evidence Journal of Human Genetics . 64 (3): 199-206 .
20209292 Postal, M., Palodeto, B., Sartorato, E. L., Oliveira, C. A. (2009) C1494T mitochondrial DNA mutation, hearing loss, and aminoglycosides antibiotics Brazilian Journal of Otorhinolaryngology 75 (6): 884-887 .
30693673 Zhou, Y., Li, C., Li, M., Zhao, Z., Tian, S., Xia, H., Liu, P., Han, Y., Ren, R., Chen, J., Jia, C., Guo, W. (2019) Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province Molecular Genetics and Genomic Medicine . 7 (3): e537 .
27654872 Barbarino, J. M., McGregor, T. L., Altman, R. B., Klein, T. E. (2016) PharmGKB summary: very important pharmacogene information for MT-RNR1 Pharmacogenetics and Genomics . 26 (12): 558-567 .
34467602 Yang, Z., Slone, J., Wang, X., Zhan, J., Huang, Y., Namjou, B., Kaufman, K. M., Pauciulo, M., Harley, J. B., Muglia, L. J., Chepelev, I., Huang, T. (2021) Validation of low-coverage whole-genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth Human Mutation ePub ahead of print, http://doi.org/10.1002/humu.24279 (): .