A peep into mitochondrial disorder: multifaceted from mitochondrial DNA mutations to nuclear gene modulation

by Chen, Chao, Chen, Ye, Guan, Min-Xin
Published 2015

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

by Chen, Jing, Riazifar, Hamidreza, Guan, Min-Xin, Huang, Taosheng
Published 2016

Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss

by Zhao, Hui, Young, Wie-Yen, Yan, Qingfeng, Li, Ronghua, Cao, Juyang, Wang, Qiuju, Li, Xiaoming, Peters, Jennifer L., Han, Dongyi, Guan, Min-Xin
Published 2005

The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree

by Lu, Zhongqiu, Chen, Hong, Meng, Yanzi, Wang, Yan, Xue, Ling, Zhi, Shaoce, Qiu, Qiaomeng, Yang, Li, Mo, Jun Qin, Guan, Min-Xin
Published 2011

Mitochondrial tRNA Variants in Chinese Subjects With Coronary Heart Disease

by Qin, Yanwen, Xue, Ling, Jiang, Pingping, Xu, Meifen, He, Yiqun, Shi, Suxue, Huang, Yangyiyi, He, Jiqiang, Mo, Jun Qin, Guan, Min‐Xin
Published 2014

Phenotypic and functional characterization of Bst+/− mouse retina

by Riazifar, Hamidreza, Sun, Guoli, Wang, Xinjian, Rupp, Alan, Vemaraju, Shruti, Ross-Cisneros, Fred N., Lang, Richard A., Sadun, Alfredo A., Hattar, Samer, Guan, Min-Xin, Huang, Taosheng
Published 2015

A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function

by Wang, Meng, Peng, Yanyan, Zheng, Jing, Zheng, Binjiao, Jin, Xiaofen, Liu, Hao, Wang, Yong, Tang, Xiaowen, Huang, Taosheng, Jiang, Pingping, Guan, Min-Xin
Published 2016

Mitochondrial haplogroup B increases the risk for hearing loss among the Eastern Asian pedigrees carrying 12S rRNA 1555A>G mutation

by Ying, Zhengbiao, Zheng, Jing, Cai, Zhaoyang, Liu, Li, Dai, Yu, Yao, Juan, Wang, Hui, Gao, Yinglong, Zheng, Binjiao, Tang, Xiaowen, Zhu, Yi, Guan, Min-Xin, Chen, Ye
Published 2015

GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss

by Zheng, Jing, Ying, Zhengbiao, Cai, Zhaoyang, Sun, Dongmei, He, Zheyun, Gao, Yinglong, Zhang, Ting, Zhu, Yi, Chen, Ye, Guan, Min-Xin
Published 2015

Aminoglycoside Stress Together with the 12S rRNA 1494C>T Mutation Leads to Mitophagy

by Yu, Jialing, Zheng, Jing, Zhao, Xiaoxu, Liu, Junxia, Mao, Zhuochao, Ling, Yining, Chen, Danni, Chen, Chao, Hui, Lanlan, Cui, Limei, Chen, Ye, Jiang, Pingping, Guan, Min-Xin
Published 2014

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

by Gong, Shasha, Peng, Yanyan, Jiang, Pingping, Wang, Meng, Fan, Mingjie, Wang, Xinjian, Zhou, Hong, Li, Huawei, Yan, Qingfeng, Huang, Taosheng, Guan, Min-Xin
Published 2014

A Hypertension-Associated tRNAAla Mutation Alters tRNA Metabolism and Mitochondrial Function

by Jiang, Pingping, Wang, Meng, Xue, Ling, Xiao, Yun, Yu, Jialing, Wang, Hui, Yao, Juan, Liu, Hao, Peng, Yanyan, Liu, Hanqing, Li, Haiying, Chen, Ye, Guan, Min-Xin
Published 2016

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

by Simon, Mariella, Richard, Elodie M., Wang, Xinjian, Shahzad, Mohsin, Huang, Vincent H., Qaiser, Tanveer A., Potluri, Prasanth, Mahl, Sarah E., Davila, Antonio, Nazli, Sabiha, Hancock, Saege, Yu, Margret, Gargus, Jay, Chang, Richard, Al-sheqaih, Nada, Newman, William G., Abdenur, Jose, Starr, Arnold, Hegde, Rashmi, Dorn, Thomas, Busch, Anke, Park, Eddie, Wu, Jie, Schwenzer, Hagen, Flierl, Adrian, Florentz, Catherine, Sissler, Marie, Khan, Shaheen N., Li, Ronghua, Guan, Min-Xin, Friedman, Thomas B., Wu, Doris K., Procaccio, Vincent, Riazuddin, Sheikh, Wallace, Douglas C., Ahmed, Zubair M., Huang, Taosheng, Riazuddin, Saima
Published 2015