MITOMAP References for Mutation G-A at 11696

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1 8644732 1996 De Vries, D.D., Went, L.N., Bruyn, G.W., Scholte, H.R., Hofstra, R.M., Bolhuis, P.A., van Oost, B.A. (1996) Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia American Journal of Human Genetics . 58 (4): 703-711 .
2 27159682 2017 Xie, S., Zhang, J., Sun, J., Zhang, M., Zhao, F., Wei, Q. P., Tong, Y., Liu, X., Zhou, X., Jiang, P., Ji, Y., Guan, M. X. (2017) Mitochondrial haplogroup D4j specific variant m.11696G > a(MT-ND4) may increase the penetrance and expressivity of the LHON-associated m.11778G > a mutation in Chinese pedigrees Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis . 28 (3): 434-441 .
3 20301353 2021 Yu-Wai-Man, P., Chinnery, P. F. (2021) Leber hereditary optic neuropathy [updated 2021 Mar 11] GeneReviews® M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirza, A. Amemiya (): https://www.ncbi.nlm.nih.gov/books/NBK1174/ .
4 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 .
5 16364244 2006 Zhou, X., Wei, Q., Yang, L., Tong, Y., Zhao, F., Lu, C., Qian, Y., Sun, Y., Lu, F., Qu, J., Guan, M. X. (2006) Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families Biochemical and Biophysical Research Communications . 340 (1): 69-75 .
6 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 .
7 17300996 2007 Qu, J., Li, R., Zhou, X., Tong, Y., Yang, L., Chen, J., Zhao, F., Lu, C., Qian, Y., Lu, F., Guan, M. X. (2007) Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family Mitochondrion . 7 (40545): 140-146 .
8 19818876 2010 Lu, J., Qian, Y., Li, Z., Yang, A., Zhu, Y., Li, R., Yang, L., Tang, X., Chen, B., Ding, Y., Li, Y., You, J., Zheng, J., Tao, Z., Zhao, F., Wang, J., Sun, D., Zhao, J., Meng, Y., Guan, M. X. (2010) Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation Mitochondrion . 10 (1): 69-81 .
9 19001017 2009 Yu-Wai-Man, P., Griffiths, P. G., Hudson, G., Chinnery, P. F. (2009) Inherited mitochondrial optic neuropathies [Review] Journal of Medical Genetics . 46 (3): 145-158 .
10 17123466 2007 Bandelt, H. J., Yao, Y. G., Salas, A., Kivisild, T., Bravi, C. M. (2007) High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients Biochemical and Biophysical Research Communications . 352 (2): 283-291 .
11 17922426 2007 Zhao, F. X., Zhou, X. T., Qu, J., Wei, Q. P., Tong, Y., Yang, L., Lv, J. X., Guan, M. X. (2007) [Leber's hereditary optic neuropathy is associated with the mitochondrial G11696A mutation in two Chinese families] Zhonghua Yi Xue Yi Chuan Xue Za Zhi . 24 (5): 556-559 .
12 21482521 2011 Ji, Y. C., Liu, X. L., Zhao, F. X., Zhang, J. J., Zhang, Y., Zhou, X. T., Qu, J., Guan, M. X. (2011) [The mitochondrial ND5 T12338C mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families] Yi Chuan . 33 (4): 322-328 .
13 21457906 2011 Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 .
14 17723226 2007 Liao, Z., Zhao, J., Zhu, Y., Yang, L., Yang, A., Sun, D., Zhao, Z., Wang, X., Tao, Z., Tang, X., Wang, J., Guan, M., Chen, J., Li, Z., Lu, J., Guan, M. X. (2007) The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family Biochemical and Biophysical Research Communications . 362 (3): 670-676 .
15 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 .
16 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 .
17 35104579 2022 Gowri, P., Sathish, P., Mahesh Kumar, S., Sundaresan, P. (2022) Mutation profile of neurodegenerative mitochondriopathy - LHON in Southern India Gene . 819 (): 146202 .
18 NA 2014 van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb .