MITOMAP References for RNA Mutation T961delT+ / -C(n)ins

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Index PMID Date Reference
1 8104867 1993 Shoffner, J.M., Brown, M.D., Torroni, A., Lott, M.T., Cabell, M.R., Mirra, S.S., Beal, M.F., Yang, C., Gearing, M., Salvo, R., Watts, R.L., Juncos, J.L., Hansen, L.A., Crain, B.J., Fayad, M., Reckord, C.L., Wallace, D.C. (1993) Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients Genomics . 17 (1): 171-184 .
2 14681830 2004 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 .
3 7550368 1995 Bacino, C., Prezant, T. R., Bu, X., Fournier, P., Fischel-Ghodsian, N. (1995) Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness Pharmacogenetics . 5 (3): 165-172 .
4 10220138 1999 Fischel-Ghodsian, N. (1999) Mitochondrial deafness mutations reviewed Human Mutation . 13 (4): 261-270 .
5 19144107 2009 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 .
6 24092330 2014 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 .
7 14581685 2003 Pulkes, T., Liolitsa, D., Nelson, I. P., Hanna, M. G. (2003) Classical mitochondrial phenotypes without mtDNA mutations: The possible role of nuclear genes Neurology . 61 (8): 1144-1147 .
8 10326749 1999 Casano, R. A., Johnson, D. F., Bykhovskaya, Y., Torricelli, F., Bigozzi, M., Fischel-Ghodsian, N. (1999) Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications American Journal of Otolaryngology . 20 (3): 151-156 .
9 12037390 2002 Yoshida, M., Shintani, T., Hirao, M., Himi, T., Yamaguchi, A., Kikuchi, K. (2002) Aminoglycoside-induced hearing loss in a patient with the 961 mutation in mitochondrial DNA ORL; Journal for Oto-Rhino-Laryngology and its Related Specialties . 64 (3): 219-222 .
10 12394346 2002 Tang, H. Y., Hutcheson, E., Neill, S., Drummond-Borg, M., Speer, M., Alford, R. L. (2002) Genetic susceptibility to aminoglycoside ototoxicity: how many are at risk? Genetics in Medicine . 4 (5): 336-345 .
11 16120283 2001 Ito, M., Tran Le, S., Chaudhari, D., Higashimoto, T., Maslim, A., Boles, R. G. (2001) Screening for mitochondrial DNA heteroplasmy in children at risk for mitochondrial disease Mitochondrion . 1 (3): 269-278 .
12 18790089 2008 Konings, A., Van Camp, G., Goethals, A., Van Eyken, E., Vandevelde, A., Ben Azza, J., Peeters, N., Wuyts, W., Smeets, H., Van Laer, L. (2008) Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients Mitochondrion . 8 (40669): 377-382 .
13 19703591 2010 Tanaka, N., Goto, Y. I., Akanuma, J., Kato, M., Kinoshita, T., Yamashita, F., Tanaka, M., Asada, T. (2010) Mitochondrial DNA variants in a Japanese population of patients with Alzheimer's disease Mitochondrion . 10 (1): 32-37 .
14 15917167 2005 Kobayashi, K., Oguchi, T., Asamura, K., Miyagawa, M., Horai, S., Abe, S., Usami, S. (2005) Genetic features, clinical phenotypes, and prevalence of sensorineural hearing loss associated with the 961delT mitochondrial mutation Auris, Nasus, Larynx . 32 (2): 119-124 .
15 18851951 2008 Elstner, M., Schmidt, C., Zingler, V. C., Prokisch, H., Bettecken, T., Elson, J. L., Rudolph, G., Bender, A., Halmagyi, G. M., Brandt, T., Strupp, M., Klopstock, T. (2008) Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathy Biochemical and Biophysical Research Communications . 377 (2): 379-383 .
16 20100600 2010 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 .
17 21495045 2011 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 .
18 17489842 2007 Kokotas, H., Petersen, M. B., Willems, P. J. (2007) Mitochondrial deafness Clinical Genetics . 71 (5): 379-391 .
19 19705751 2009 Dzhemileva, L. U., Posukh, O. L., Tazetdinov, A. M., Barashkov, N. A., Zhuravskii, S. G., Ponidelko, S. N., Markova, T. G., Tadinova, V. N., Fedorova, S. A., Maksimova, N. R., Khusnutdinova, E. K. (2009) [Analysis of mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia] Genetika . 45 (7): 982-991 .
20 30053855 2018 Bianco, A., Bisceglia, L., De Caro, M. F., Galeandro, V., De Bonis, P., Tullo, A., Zoccolella, S., Guerriero, S., Petruzzella, V. (2018) Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report BMC Medical Genetics . 19 (1): 129 .
21 27654872 2016 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 .