Guan MX - Search Results

1

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

Peng Y, Shinde DN, Valencia CA, Mo JS, Rosenfeld J, Truitt Cho M, Chamberlin A, Li Z, Liu J, Gui B, Brockhage R, Basinger A, Alvarez-Leon B, Heydemann P, Magoulas PL, Lewis AM, Scaglia F, Gril S, Chong SC, Bower M, Monaghan KG, Willaert R, Plona MR, Dineen R, Milan F, Hoganson G, Powis Z, Helbig KL, Keller-Ramey J, Harris B, Anderson LC, Green T, Sukoff Rizzo SJ, Kaylor J, Chen J, Guan MX, Sellars E, Sparagana SP, Gibson JB, Reinholdt LG, Tang S, Huang T. Peng Y, et al. Among authors: guan mx. Hum Mol Genet. 2017 Dec 15;26(24):4937-4950. doi: 10.1093/hmg/ddx377. Hum Mol Genet. 2017. PMID: 29040572 Free PMC article.

2

Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family.

Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, Bai Y, Young WY, Guan MX. Zhao H, et al. Among authors: guan mx. Am J Hum Genet. 2004 Jan;74(1):139-52. doi: 10.1086/381133. Epub 2003 Dec 12. Am J Hum Genet. 2004. PMID: 14681830 Free PMC article.

3

Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene.

Yan X, Wang X, Wang Z, Sun S, Chen G, He Y, Mo JQ, Li R, Jiang P, Lin Q, Sun M, Li W, Bai Y, Zhang J, Zhu Y, Lu J, Yan Q, Li H, Guan MX. Yan X, et al. Among authors: guan mx. J Med Genet. 2011 Oct;48(10):682-90. doi: 10.1136/jmedgenet-2011-100219. J Med Genet. 2011. PMID: 21931169

4

Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy.

Liang M, Jiang P, Li F, Zhang J, Ji Y, He Y, Xu M, Zhu J, Meng X, Zhao F, Tong Y, Liu X, Sun Y, Zhou X, Mo JQ, Qu J, Guan MX. Liang M, et al. Among authors: guan mx. Invest Ophthalmol Vis Sci. 2014 Mar 6;55(3):1321-31. doi: 10.1167/iovs.13-13011. Invest Ophthalmol Vis Sci. 2014. PMID: 24398099

5

Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families.

Ji Y, Liang M, Zhang J, Zhang M, Zhu J, Meng X, Zhang S, Gao M, Zhao F, Wei QP, Jiang P, Tong Y, Liu X, Qin Mo J, Guan MX. Ji Y, et al. Among authors: guan mx. J Hum Genet. 2014 Mar;59(3):134-40. doi: 10.1038/jhg.2013.134. Epub 2014 Jan 16. J Hum Genet. 2014. PMID: 24430572

6

Species identification through mitochondrial rRNA genetic analysis.

Yang L, Tan Z, Wang D, Xue L, Guan MX, Huang T, Li R. Yang L, et al. Among authors: guan mx. Sci Rep. 2014 Feb 13;4:4089. doi: 10.1038/srep04089. Sci Rep. 2014. PMID: 24522485 Free PMC article.

7

A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.

Gong S, Peng Y, Jiang P, Wang M, Fan M, Wang X, Zhou H, Li H, Yan Q, Huang T, Guan MX. Gong S, et al. Among authors: guan mx. Nucleic Acids Res. 2014 Jul;42(12):8039-48. doi: 10.1093/nar/gku466. Epub 2014 Jun 11. Nucleic Acids Res. 2014. PMID: 24920829 Free PMC article.

8

Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy.

Jiang P, Liang M, Zhang J, Gao Y, He Z, Yu H, Zhao F, Ji Y, Liu X, Zhang M, Fu Q, Tong Y, Sun Y, Zhou X, Huang T, Qu J, Guan MX. Jiang P, et al. Among authors: guan mx. Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4778-88. doi: 10.1167/iovs.14-16158. Invest Ophthalmol Vis Sci. 2015. PMID: 26218905

9

The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.

Jiang P, Jin X, Peng Y, Wang M, Liu H, Liu X, Zhang Z, Ji Y, Zhang J, Liang M, Zhao F, Sun YH, Zhang M, Zhou X, Chen Y, Mo JQ, Huang T, Qu J, Guan MX. Jiang P, et al. Among authors: guan mx. Hum Mol Genet. 2016 Feb 1;25(3):584-96. doi: 10.1093/hmg/ddv498. Epub 2015 Dec 8. Hum Mol Genet. 2016. PMID: 26647310

10

Modeling autosomal dominant optic atrophy using induced pluripotent stem cells and identifying potential therapeutic targets.

Chen J, Riazifar H, Guan MX, Huang T. Chen J, et al. Among authors: guan mx. Stem Cell Res Ther. 2016 Jan 7;7:2. doi: 10.1186/s13287-015-0264-1. Stem Cell Res Ther. 2016. PMID: 26738566 Free PMC article.

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