Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities P Mathur, J Yang Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1852 (3), 406-420, 2015 | 380 | 2015 |
Rootletin, a novel coiled-coil protein, is a structural component of the ciliary rootlet. LT Yang J, Liu X, Yue G, Adamian M, Bulgakov O The Journal of cell biology 159 (3), 431-440, 2002 | 270 | 2002 |
RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia. LT Hong DH, Pawlyk B, Sokolov M, Strissel KJ, Yang J, Tulloch B, Wright AF ... Investigative ophthalmology & visual science 44 (6), 2413-2421, 2003 | 248 | 2003 |
Rootletin interacts with C-Nap1 and may function as a physical linker between the pair of centrioles/basal bodies in cells. LT Yang J, Adamian M Molecular biology of the cell. 17 (2), 1033-1040, 2006 | 198 | 2006 |
The ciliary rootlet maintains long-term stability of sensory cilia. LT Yang J, Gao J, Adamian M, Wen XH, Pawlyk B, Zhang L, Sanderson MJ, Zuo J ... Molecular and cellular biology 25 (10), 4129-4137, 2005 | 172 | 2005 |
Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss. LT Yang J, Liu X, Zhao Y, Adamian M, Pawlyk B, Sun X, McMillan DR, Liberman MC PLoS genetics. 6 (5), e1000955, 2010 | 146 | 2010 |
AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase. LT Liu X, Bulgakov OV, Wen XH, Woodruff ML, Pawlyk B, Yang J, Fain GL ... Proceedings of the National Academy of Sciences of the United States of …, 2004 | 122* | 2004 |
Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors. YJ Zou J, Luo L, Shen Z, Chiodo VA, Ambati BK, Hauswirth WW Investigative ophthalmology & visual science. 52 (5), 2343-2351, 2011 | 84 | 2011 |
Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II. YJ Wang L, Zou J, Shen Z, Song E Human molecular genetics. 21 (3), 692-710, 2012 | 70 | 2012 |
Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice J Zou, T Zheng, C Ren, C Askew, XP Liu, B Pan, JR Holt, Y Wang, J Yang Human molecular genetics 23 (9), 2374-2390, 2014 | 67 | 2014 |
The ciliary rootlet interacts with kinesin light chains and may provide a scaffold for kinesin-1 vesicular cargos. LT Yang J Experimental cell research. 309 (2), 379-389, 2005 | 62 | 2005 |
Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2 Q Chen, J Zou, Z Shen, W Zhang, J Yang Journal of Biological Chemistry 289 (52), 36070-36088, 2014 | 59 | 2014 |
GPSM2-GNAI specify the tallest stereocilia and define hair bundle row identity TB Tadenev ALD, Akturk A, Devannery N, Mathur PD, Clark AM, Yang J Curr biol, 2019 | 58 | 2019 |
Usher syndrome and non-syndromic deafness: functions fo different whirlin isoforms in the cochlea, vestibular organs, and retina YJ Mathur PD Hear Res 375, 14-24, 2019 | 54 | 2019 |
Current understanding of usher syndrome type II. SM Yang J, Wang L, Song H Frontiers in bioscience (Landmark edition). 17, 1165-1183, 2012 | 49* | 2012 |
The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells J Zou, Q Chen, A Almishaal, PD Mathur, T Zheng, C Tian, QY Zheng, ... Human molecular genetics 26 (3), 624-636, 2017 | 43 | 2017 |
Mpp4 is required for proper localization of plasma membrane calcium ATPases and maintenance of calcium homeostasis at the rod photoreceptor synaptic terminals. LT Yang J, Pawlyk B, Wen XH, Adamian M, Soloviev M, Michaud N, Zhao Y ... Human molecular genetics. 16 (9), 1017-1029, 2007 | 39 | 2007 |
Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle J Zou, PD Mathur, T Zheng, Y Wang, A Almishaal, AH Park, J Yang Human molecular genetics 24 (24), 6944-6957, 2015 | 38 | 2015 |
Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31 PD Mathur, J Zou, T Zheng, A Almishaal, Y Wang, Q Chen, L Wang, ... Human molecular genetics 24 (21), 6213-6228, 2015 | 35 | 2015 |
Usher syndrome in the inner ear: etiologies and advances in gene therapy LX De Joya EM, Colbert BM, Tang, P, Lam BL, Yang J, Blanton SH, Dykxhoorn DM Int J Mol Sci, 2021 | 26 | 2021 |