MITOMAP References for Variant T14709C at 14709

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1 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 .
2 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 .
3 10220138 1999 Fischel-Ghodsian, N. (1999) Mitochondrial deafness mutations reviewed Human Mutation . 13 (4): 261-270 .
4 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 .
5 15126302 2004 Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 .
6 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 .
7 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 .
8 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 .
9 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 .
10 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 .
11 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 .
12 23301511 2013 Mkaouar-Rebai, E., Chamkha, I., Mezghani, N., Ben Ayed, I., Fakhfakh, F. (2013) Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study Mitochondrial DNA . 24 (3): 163-178 .
13 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 .
14 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 .
15 11437868 2001 Rigoli, L., Prisco, F., Caruso, R. A., Iafusco, D., Ursomanno, G., Zuccarello, D., Ingenito, N., Rigoli, M., Barberi, I. (2001) Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family Diabetic Medicine . 18 (4): 334-336 .
16 32313153 2020 Riley, L. G., Cowley, M. J., Gayevskiy, V., Minoche, A. E., Puttick, C., Thorburn, D. R., Rius, R., Compton, A. G., Menezes, M. J., Bhattacharya, K., Coman, D., Ellaway, C., Alexander, I. E., Adams, L., Kava, M., Robinson, J., Sue, C. M., Balasubramaniam, S., Christodoulou, J. (2020) The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease Genetics in Medicine 22 (7): 1254-1261 .
17 26469001 2015 Rocha, M. C., Grady, J. P., Grunewald, A., Vincent, A., Dobson, P. F., Taylor, R. W., Turnbull, D. M., Rygiel, K. A. (2015) A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis Scientific Reports . 5 (): 15037 .
18 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 .
19 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 .
20 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 .
21 19199242 2009 Wang, S. J., Wu, S. H., Zheng, T. S., Wang, L., Lu, H. J., Xiang, K. S. (2009) [Study on the mitochondrial DNA mutations in familial diabetes mellitus in Chinese population] Zhonghua Yi Xue Yi Chuan Xue Za Zhi . 26 (1): 6-10 .
22 32948797 2020 Warren, C., McDonald, D., Capaldi, R., Deehan, D., Taylor, R. W., Filby, A., Turnbull, D. M., Lawless, C., Vincent, A. E. (2020) Decoding mitochondrial heterogeneity in single muscle fibres by imaging mass cytometry Scientific Reports . 10 (1): 15336 .
23 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 .
24 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 .
25 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 .
26 22538251 2012 Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 .
27 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 .
28 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 .