MITOMAP References for Variant T14709C at 14709

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7726154 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 .
7726155 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 .
9353617 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 .
11938495 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 .
12393175 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 .
10392369 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 .
10220138 Fischel-Ghodsian, N. (1999) Mitochondrial deafness mutations reviewed Human Mutation . 13 (4): 261-270 .
15880407 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 .
15983868 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 .
17886296 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 .
25652200 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 .
29253894 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 .
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 .
15126302 Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 .
11437868 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 .
15048886 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 .
15607216 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 .
17653689 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 .
20045353 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 .
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 .
22577219 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 .
22249460 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 .
19199242 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 .
32313153 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 .
23301511 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 .
26469001 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 .
32948797 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 .
22538251 Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 .