MITOMAP References for RNA Mutation T14709C

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Index PMID Date Reference
1 7726154 1995 Hao, H., Bonilla, E., Manfredi, G., DiMauro, S., Moraes, C. T. (1995) Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus American Journal of Human Genetics . 56 (5): 1017-1025 .
2 7726155 1995 Hanna, M. G., Nelson, I., Sweeney, M. G., Cooper, J. M., Watkins, P. J., Morgan-Hughes, J. A., Harding, A. E. (1995) Congenital encephalomyopathy and adult-onset myopathey and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation American Journal of Human Genetics . 56 (5): 1026-1033 .
3 9353617 1997 Vialettes, B. H., Paquis-Flucklinger, V., Pelissier, J. F., Bendahan, D., Narbonne, H., Silvestre-Aillaud, P., Montfort, M. F., Righini-Chossegros, M., Pouget, J., Cozzone, P. J., Desnuelle, C. (1997) Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report Diabetes Care . 20 (11): 1731-1737 .
4 10220138 1999 Fischel-Ghodsian, N. (1999) Mitochondrial deafness mutations reviewed Human Mutation . 13 (4): 261-270 .
5 10392369 1999 Damore, M. E., Speiser, P. W., Slonim, A. E., New, M. I., Shanske, S., Xia, W., Santorelli, F. M., DiMauro, S. (1999) Early onset of diabetes mellitus associated with the mitochondrial DNA T.14709.C point mutation: patient report and literature review Journal of Pediatric Endrocrinology and Metabolism . 12 (2): 207-213 .
6 11938495 2002 Herrnstadt, C., Elson, J. L., Fahy, E., Preston, G., Turnbull, D. M., Anderson, C., Ghosh, S. S., Olefsky, J. M., Beal, M. F., Davis, R. E., Howell, N. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups American Journal of Human Genetics . 70 (5): 1152-1171 .
7 12393175 2002 Perucca-Lostanlen, D., Taylor, R. W., Narbonne, H., Mousson de Camaret, B., Hayes, C. M., Saunieres, A., Paquis-Flucklinger, V., Turnbull, D. M., Vialettes, B., Desnuelle, C. (2002) Molecular and functional effects of the T.14709.C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness Biochimica et Biophysica Acta . 1588 (3): 210-216 .
8 15048886 2004 McFarland, R., Schaefer, A. M., Gardner, J. L., Lynn, S., Hayes, C. M., Barron, M. J., Walker, M., Chinnery, P. F., Taylor, R. W., Turnbull, D. M. (2004) Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation Annals of Neurology . 55 (4): 478-484 .
9 15126302 2004 Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 .
10 15607216 2005 Mancuso, M., Ferraris, S., Nishigaki, Y., Azan, G., Mauro, A., Sammarco, P., Krishna, S., Tay, S. K., Bonilla, E., Romansky, S. G., Hirano, M., DiMauro, S. (2005) Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation Journal of the Neurological Sciences . 228 (1): 93-97 .
11 15880407 2005 Bannwarth, S., Procaccio, V., Paquis-Flucklinger, V. (2005) Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects Human Mutation . 25 (6): 575-582 .
12 15983868 2005 Vilmi, T., Moilanen, J. S., Finnila, S., Majamaa, K. (2005) Sequence variation in the tRNA genes of human mitochondrial DNA Journal of Molecular Evolution . 60 (5): 587-597 .
13 17653689 2007 Whittaker, R. G., Schaefer, A. M., McFarland, R., Taylor, R. W., Walker, M., Turnbull, D. M. (2007) Prevalence and progression of diabetes in mitochondrial disease Diabetologia . 50 (10): 2085-2089 .
14 17886296 2007 Schaefer, A. M., McFarland, R., Blakely, E. L., He, L., Whittaker, R. G., Taylor, R. W., Chinnery, P. F., Turnbull, D. M. (2007) Prevalence of mitochondrial DNA disease in adults Annals of Neurology . 63 (1): 35-39 .
15 20045353 2009 Mezghani, N., Mkaouar-Rebai, E., Mnif, M., Charfi, N., Rekik, N., Youssef, S., Abid, M., Fakhfakh, F. (2009) The heteroplasmic m.14709T>C mutation in the tRNA(Glu) gene in two Tunisian families with mitochondrial diabetes Journal of Diabetes and its Complications . 24 (4): 270-277 .
16 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 .
17 22249460 2012 Lax, N. Z., Hepplewhite, P. D., Reeve, A. K., Nesbitt, V., McFarland, R., Jaros, E., Taylor, R. W., Turnbull, D. M. (2012) Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study Journal of Neuropathology and Experimental Neurology . 71 (2): 148-161 .
18 22577219 2012 Lax, N. Z., Pienaar, I. S., Reeve, A. K., Hepplewhite, P. D., Jaros, E., Taylor, R. W., Kalaria, R. N., Turnbull, D. M. (2012) Microangiopathy in the cerebellum of patients with mitochondrial DNA disease Brain . 135 (Pt 6): 1736-1750 .
19 25652200 2015 Gorman, G. S., Schaefer, A. M., Ng, Y., Gomez, N., Blakely, E. L., Alston, C. L., Feeney, C., Horvath, R., Yu-Wai-Man, P., Chinnery, P. F., Taylor, R. W., Turnbull, D. M., McFarland, R. (2015) Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease Annals of Neurology . 77 (5): 753-759 .
20 29253894 2017 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 .