MITOMAP References for RNA Mutation C7471CC

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1 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 .
2 22538251 2012 Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 .
3 32504279 2020 Formichi, P., Cardone, N., Taglia, I., Cardaioli, E., Salvatore, S., Gerfo, A. L., Simoncini, C., Montano, V., Siciliano, G., Mancuso, M., Malandrini, A., Federico, A., Dotti, M. T. (2020) Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions Neurological Sciences . 41 (12): 3653-3662 .
4 34467602 2021 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 (): .
5 19718780 2009 Elson, J. L., Swalwell, H., Blakely, E. L., McFarland, R., Taylor, R. W., Turnbull, D. M. (2009) Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? Human Mutation . 30 (11): E984-992 .
6 7581383 1995 Tiranti, V., Chariot, P., Carella, F., Toscano, A., Soliveri, P., Girlanda, P., Carrara, F., Fratta, G. M., Reid, F. M., Mariotti, C., Zeviani, M. (1995) Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene Human Molecular Genetics . 4 (8): 1421-1427 .
7 9708714 1998 Ensink, R.J., Verhoeven, K., Marres, H.A., Huygen, P.L., Padberg, G.W., ter Laak, H., van Camp, G., Willems, P.J., Cremers, C.W. (1998) Early-onset sensorineural hearing loss and late-onset neurologic complaints caused by a mitochondrial mutation at position 7472 Archives of Otolaryngology -- Head and Neck Surgery . 124 (8): 886-891 .
8 9778262 1998 Jaksch, M., Klopstock, T., Kurlemann, G., Dorner, M., Hofmann, S., Kleinle, S., Hegemann, S., Weissert, M., Muller-Hocker, J., Pongratz, D., Gerbitz, K. D. (1998) Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene Annals of Neurology . 44 (4): 635-640 .
9 9832034 1998 Jaksch, M., Hofmann, S., Kleinle, S., Liechti-Gallati, S., Pongratz, D. E., Muller-Hocker, J., Jedele, K. B., Meitinger, T., Gerbitz, K. D. (1998) A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy Journal of Medical Genetics . 35 (11): 895-900 .
10 9778273 1998 Schuelke, M., Bakker, M., Stoltenburg, G., Sperner, J., von Moers, A. (1998) Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation Annals of Neurology . 44 (4): 700-704 .
11 10094190 1999 Verhoeven, K., Ensink, R. J., Tiranti, V., Huygen, P. L., Johnson, D. F., Schatteman, I., Van Laer, L., Verstreken, M., Van de Heyning, P., Fischel-Ghodsian, N., Zeviani, M., Cremers, C. W., Willems, P. J., Van Camp, G. (1999) Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene European Journal of Human Genetics . 7 (1): 45-51 .
12 15482956 2004 Fetoni, V., Briem, E., Carrara, F., Mora, M., Zeviani, M. (2004) Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene Neuromuscular Disorders . 14 (11): 723-726 .
13 10545608 1999 Toompuu, M., Tiranti, V., Zeviani, M., Jacobs, H. T. (1999) Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids Human Molecular Genetics . 8 (12): 2275-2283 .
14 10220138 1999 Fischel-Ghodsian, N. (1999) Mitochondrial deafness mutations reviewed Human Mutation . 13 (4): 261-270 .
15 10905659 2000 Van Camp, G., Smith, R. J. (2000) Maternally inherited hearing impairment Clinical Genetics . 57 (6): 409-414 .
16 10760311 2000 Willems, P. J. (2000) Genetic causes of hearing loss New England Journal of Medicine . 342 (15): 1101-1109 .
17 11215518 2000 Hutchin, T. P., Cortopassi, G. A. (2000) Mitochondrial defects and hearing loss Cellular and Molecular Life Sciences . 57 (13-14): 1927-1937
18 11378827 2001 Hutchin, T. P., Navarro-Coy, N. C., Van Camp, G., Tiranti, V., Zeviani, M., Schuelke, M., Jaksch, M., Newton, V., Mueller, R. F. (2001) Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction European Journal of Human Genetics . 9 (5): 385-387 .
19 11919191 2002 Toompuu, M., Yasukawa, T., Suzuki, T., Hakkinen, T., Spelbrink, J. N., Watanabe, K., Jacobs, H. T. (2002) The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover Journal of Biological Chemistry . 277 (25): 22240-22250 .
20 15126302 2004 Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 .
21 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
22 15382008 2004 Achilli, A., Rengo, C., Magri, C., Battaglia, V., Olivieri, A., Scozzari, R., Cruciani, F., Zeviani, M., Briem, E., Carelli, V., Moral, P., Dugoujon, J. M., Roostalu, U., Loogvali, E. L., Kivisild, T., Bandelt, H. J., Richards, M., Villems, R., Santachiara-Benerecetti, A. S., Semino, O., Torroni, A. (2004) The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool American Journal of Human Genetics . 75 (5): 910-918 .
23 15833431 2005 Pulkes, T., Liolitsa, D., Eunson, L. H., Rose, M., Nelson, I. P., Rahman, S., Poulton, J., Marchington, D. R., Landon, D. N., Debono, A. G., Morgan-Hughes, J. A., Hanna, M. G. (2005) New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation Neuromuscular Disorders . 15 (5): 364-371 .
24 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 .
25 16368237 2006 Cardaioli, E., Da Pozzo, P., Cerase, A., Sicurelli, F., Malandrini, A., De Stefano, N., Stromillo, M. L., Battisti, C., Dotti, M. T., Federico, A. (2006) Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene Neuromuscular Disorders . 16 (1): 26-31 .
26 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 .
27 17489842 2007 Kokotas, H., Petersen, M. B., Willems, P. J. (2007) Mitochondrial deafness Clinical Genetics . 71 (5): 379-391 .
28 18398437 2008 Swalwell, H., Blakely, E. L., Sutton, R., Tonska, K., Elstner, M., He, L., Taivassalo, T., Burns, D. K., Turnbull, D. M., Haller, R. G., Davidson, M. M., Taylor, R. W. (2008) A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one? European Journal of Human Genetics . 16 (10): 1265-1274 .
29 18977334 2009 Valente, L., Piga, D., Lamantea, E., Carrara, F., Uziel, G., Cudia, P., Zani, A., Farina, L., Morandi, L., Mora, M., Spinazzola, A., Zeviani, M., Tiranti, V. (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy Biochimica et Biophysica Acta . 1787 (5): 491-501 .
30 20722495 2010 Uehara, D. T., Rincon, D., Abreu-Silva, R. S., Auricchio, M. T., Tabith, A., Kok, F., Mingroni-Netto, R. C. (2010) Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss Genetic Testing and Molecular Biomarkers . 14 (5): 611-616 .
31 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 .
32 23847141 2013 Bannwarth, S., Procaccio, V., Lebre, A. S., Jardel, C., Chaussenot, A., Hoarau, C., Maoulida, H., Charrier, N., Gai, X., Xie, H. M., Ferre, M., Fragaki, K., Hardy, G., Mousson de Camaret, B., Marlin, S., Dhaenens, C. M., Slama, A., Rocher, C., Paul Bonnefont, J., Rotig, A., Aoutil, N., Gilleron, M., Desquiret-Dumas, V., Reynier, P., Ceresuela, J., Jonard, L., Devos, A., Espil-Taris, C., Martinez, D., Gaignard, P., Le Quan Sang, K. H., Amati-Bonneau, P., Falk, M. J., Florentz, C., Chabrol, B., Durand-Zaleski, I., Paquis-Flucklinger, V. (2013) Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders Journal of Medical Genetics . 50 (10): 704-714 .