MITOMAP References for Mutation G-A at 3316

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1 7733935 1995 Nakagawa, Y., Ikegami, H., Yamato, E., Takekawa, K., Fujisawa, T., Hamada, Y., Ueda, H., Uchigata, Y., Miki, T., Kumahara, Y., Ogihara, T. (1995) A new mitochondrial DNA mutation associated with non-insulin-dependent diabetes mellitus [published erratum appears in Biochim Biophys Res Commun 209:664-668, 1995] Biochemical and Biophysical Research Communications . 209 (2): 664-668 .
2 9384601 1998 Sternberg, D., Danan, C., Lombes, A., Laforet, P., Girodon, E., Goossens, M., Amselem, S. (1998) Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders Human Molecular Genetics . 7 (1): 33-42 .
3 10395242 1998 Nakano, S., Fukuda, M., Hotta, F., Ito, T., Ishii, T., Kitazawa, M., Nishizawa, M., Kigoshi, T., Kakinuma, H., Takahashi, H., Uchida, K. (1998) Mitochondrial DNA point mutation at nucleotide pair 3316 in a Japanese family with heterogeneous phenotypes of diabetes Endocrine Journal . 45 (5): 625-630 .
4 10520236 1999 Matsumoto, M., Hayasaka, S., Kadoi, C., Hotta, Y., Fujiki, K., Fujimaki, T., Takeda, M., Ishida, N., Endo, S., Kanai, A. (1999) Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy Ophthalmic Genetics . 20 (3): 153-160 .
5 12436196 2002 Sudoyo, H., Suryadi, H., Lertrit, P., Pramoonjago, P., Lyrawati, D., Marzuki, S. (2002) Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy Journal of Human Genetics . 47 (11): 594-604 .
6 10636741 1999 Odawara, M., Maki, H., Yamada, N. (1999) Pathogenicity of homoplasmic mitochondrial DNA mutation and nuclear gene involvement Journal of Medical Genetics . 36 (12): 934-935 .
7 11238687 2001 Lam, C. W., Yang, T., Tsang, M. W., Pang, C. P. (2001) Homoplasmic 3316G-->A in the ND1 gene of the mitochondrial genome: a pathogenic mutation or a neutral polymorphism? Journal of Medical Genetics . 38 (3): E10 .
8 15972314 2006 Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., Turnbull, D. M. (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Journal of Medical Genetics . 43 (2): 175-179 .
9 16409568 2006 Zhang, D., Zhou, Z., Li, L., Weng, J., Huang, G., Jing, P., Zhang, C., Peng, J., Xiu, L. (2006) Islet autoimmunity and genetic mutations in Chinese subjects initially thought to have Type 1B diabetes Diabetic Medicine . 23 (1): 67-71 .
10 NA 2005 Dorraj, G., Houshmand, M., Larijani, B., Majd, A., Hosseini, B., Montazeri, M., Panahi, M. S. (2005) Lack of association of mitochondrial A3243G tRNALeu mutation in Iranian patients with type 2 diabetes Iranian Journal of Biotechnology . 3 (4): 243-248 .
11 8858117 1996 Odawara, M., Sasaki, K., Yamashita, K. (1996) A G-to-A substitution at nucleotide position 3316 in mitochondrial DNA is associated with Japanese non-insulin-dependent diabetes mellitus Biochemical and Biophysical Research Communications . 227 (1): 147-151 .
12 10704697 2000 Chen, Y., Liao, W. X., Roy, A. C., Loganath, A., Ng, S. C. (2000) Mitochondrial gene mutations in gestational diabetes mellitus Diabetes Research and Clinical Practice . 48 (1): 29-35 .
13 11961525 2002 Lam, C. W. (2002) Mutation not universally linked with diabetes Nature . 416 (6882): 677 .
14 15338331 2004 Mostafaie, N., Rossmanith, W., Hombauer, H., Dechat, T., Raffelsberger, T., Bauer, K., Worofka, B., Kittl, E., Hofmann, J., Hejtman, M., Kirchmeyr, W., Schreiber, W., Weissgram, S., Jungwirth, S., Fischer, P., Bittner, R., Huber, K. (2004) Mitochondrial genotype and risk for Alzheimer's disease: cross-sectional data from the Vienna-Transdanube-Aging "VITA" study Journal of Neural Transmission . 111 (9): 1155-1165 .
15 16477364 2006 Phasukkijwatana, N., Chuenkongkaew, W. L., Suphavilai, R., Suktitipat, B., Pingsuthiwong, S., Ruangvaravate, N., Atchaneeyasakul, L. O., Warrasak, S., Poonyathalang, A., Sura, T., Lertrit, P. (2006) The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees Journal of Human Genetics . 51 (4): 298-304 .
16 16331560 2005 Tang, D. L., Zhou, X., Zhou, K. Y., Li, X., Zhao, L., Liu, F., Zheng, F., Liu, S. M. (2005) [Association of mitochondrial DNA variation with type 2 diabetes mellitus] Zhonghua Yi Xue Yi Chuan Xue Za Zhi . 22 (6): 636-640 .
17 16414144 2006 Tang, D. L., Zhou, X., Li, X., Zhao, L., Liu, F. (2006) Variation of mitochondrial gene and the association with type 2 diabetes mellitus in a Chinese population Diabetes Research and Clinical Practice . 73 (1): 77-82 .
18 22949535 2012 Liu, C., Yang, Q., Hwang, S. J., Sun, F., Johnson, A. D., Shirihai, O. S., Vasan, R. S., Levy, D., Schwartz, F. (2012) Association of genetic variation in the mitochondrial genome with blood pressure and metabolic traits Hypertension . 60 (4): 949-956 .
19 29987491 2018 O'Keefe, H., Queen, R. A., Meldau, S., Lord, P., Elson, J. L. (2018) Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations Journal of Molecular Evolution . 86 (6): 395-403 .
20 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 .
21 29387390 2018 Dai, Y., Wang, C., Nie, Z., Han, J., Chen, T., Zhao, X., Ai, C., Ji, Y., Gao, T., Jiang, P. (2018) Mutation analysis of Leber's hereditary optic neuropathy using a multi-gene panel Biomedical Reports . 8 (1): 51-58 .
22 29464373 2018 Lanza, G., Cantone, M., Musso, S., Borgione, E., Scuderi, C., Ferri, R. (2018) Early-onset subcortical ischemic vascular dementia in an adult with mtDNA mutation 3316G>A Journal of Neurology . 265 (4): 968-969 .