MITOMAP References for Variant C7471CC at 7471

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7581383 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 .
9708714 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 .
9778262 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 .
9832034 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 .
9778273 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 .
11378827 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 .
11919191 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 .
10220138 Fischel-Ghodsian, N. (1999) Mitochondrial deafness mutations reviewed Human Mutation . 13 (4): 261-270 .
20722495 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 .
23847141 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 .
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 .
10094190 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 .
10905659 Van Camp, G., Smith, R. J. (2000) Maternally inherited hearing impairment Clinical Genetics . 57 (6): 409-414 .
15126302 Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 .
15382008 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 .
10760311 Willems, P. J. (2000) Genetic causes of hearing loss New England Journal of Medicine . 342 (15): 1101-1109 .
15477393 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
16368237 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 .
15833431 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 .
15482956 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 .
18398437 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 .
10545608 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 .
18977334 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 .
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 .
19718780 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 .
22538251 Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 .
32504279 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 .
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 (): .