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

TBX3 over-expression causes mammary gland hyperplasia and increases mammary stem-like cells in an inducible transgenic mouse model

by Liu, Jing, Esmailpour, Taraneh, Shang, Xiying, Gulsen, Gultekin, Liu, Andy, Huang, Taosheng
Published 2011

A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

by Tang, Shaohua, Xu, Qiyu, Xu, Xueqin, Du, Jicheng, Yang, Xuemei, Jiang, Yusheng, Wang, Xiaoqin, Speck, Nancy, Huang, Taosheng
Published 2007

Heterozygous Mutation of Drosophila Opa1 Causes the Development of Multiple Organ Abnormalities in an Age-Dependent and Organ-Specific Manner

by Shahrestani, Parvin, Leung, Hung-Tat, Le, Phung Khanh, Pak, William L., Tse, Stephanie, Ocorr, Karen, Huang, Taosheng
Published 2009

The Molecular Mechanisms of OPA1-Mediated Optic Atrophy in Drosophila Model and Prospects for Antioxidant Treatment

by Yarosh, Will, Monserrate, Jessica, Tong, James Jiayuan, Tse, Stephanie, Le, Phung Khanh, Nguyen, Kimberly, Brachmann, Carrie B, Wallace, Douglas C, Huang, Taosheng
Published 2008

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

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

Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism

by Valencia, C. Alexander, Wang, Xinjian, Wang, Jin, Peters, Anna, Simmons, Julia R., Moran, Molly C., Mathur, Abhinav, Husami, Ammar, Qian, Yaping, Sheridan, Rachel, Bove, Kevin E., Witte, David, Huang, Taosheng, Miethke, Alexander G.
Published 2016

Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder

by Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdul-Rahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E.
Published 2015

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