MITOMAP References for Variant T7510C at 7510

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PMID Reference
10978361 Hutchin, T. P., Parker, M. J., Young, I. D., Davis, A. C., Pulleyn, L. J., Deeble, J., Lench, N. J., Markham, A. F., Mueller, R. F. (2000) A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment Journal of Medical Genetics . 37 (9): 692-694 .
12471220 del Castillo, F. J., Villamar, M., Moreno-Pelayo, M. A., Almela, J. J., Morera, C., Adiego, I., Moreno, F., del Castillo, I. (2002) Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene Journal of Medical Genetics . 39 (12): e82 .
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 .
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 .
18252214 Rajasimha, H. K., Chinnery, P. F., Samuels, D. C. (2008) Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood American Journal of Human Genetics . 82 (2): 333-343 .
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 .
22781547 Yarham, J. W., McFarland, R., Taylor, R. W., Elson, J. L. (2012) A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations Mitochondrion . 12 (5): 533-538 .
23430555 Komlosi, K., Maasz, A., Kisfali, P., Hadzsiev, K., Bene, J., Melegh, B. I., Melegh, B., Ablonczy, M., Nemeth, K., Fekete, G. (2013) Non-syndromic hearing impairment in a Hungarian family with the m.7510T>C mutation of mitochondrial tRNA(Ser(UCN)) and review of published cases JIMD Reports . 9 (): 105-111; erratum in JIMD Rep (2013) 9:E1 .
29299381 Kytovuori, L., Gardberg, M., Majamaa, K., Martikainen, M. H. (2017) The m.7510T>C mutation: hearing impairment and a complex neurologic phenotype Brain and Behavior . 7 (12): e00859 .
32970680 Toncheva, D., Serbezov, D., Karachanak-Yankova, S., Nesheva, D. (2020) Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease PLoS One 15 (9): e0233666 .