Browsing by Author "Pawlyk, Basil"

Now showing items 1-4 of 4

    • Ablation of Whirlin Long Isoform Disrupts the USH2 Protein Complex and Causes Vision and Hearing Loss 

      Yang, Jun; Liu, Xiaoqing; Zhao, Yun; Adamian, Michael; Pawlyk, Basil; Sun, Xun; McMillan, D. Randy; Liberman, M. Charles; Li, Tiansen (Public Library of Science, 2010)
      Mutations in whirlin cause either Usher syndrome type II (USH2), a deafness-blindness disorder, or nonsyndromic deafness. The molecular basis for the variable disease expression is unknown. We show here that only the whirlin ...

    • Evidence for Baseline Retinal Pigment Epithelium Pathology in the Trp1-Cre Mouse 

      Thanos, Aristomenis; Morizane, Yuki; Murakami, Yusuke; Giani, Andrea; Mantopoulos, Dimosthenis; Kayama, Maki; Roh, Mi In; Michaud, Norman; Pawlyk, Basil; Sandberg, Michael Arthur; Young, Lucy Hwa-Yue; Miller, Joan Whitten; Vavvas, Demetrios (Elsevier BV, 2012)
      The increasing popularity of the Cre/loxP recombination system has led to the generation of numerous transgenic mouse lines in which Cre recombinase is expressed under the control of organ- or cell-specific promoters. ...

    • Increased Light Exposure Alleviates One Form of Photoreceptor Degeneration Marked by Elevated Calcium in the Dark 

      Liu, Xiaoqing; Pawlyk, Basil; Adamian, Michael; Olshevskaya, Elena V.; Dizhoor, Alexander M.; Makino, Clint L.; Li, Tiansen (Public Library of Science, 2009)
      Background: In one group of gene mutations that cause photoreceptor degeneration in human patients, guanylyl cyclase is overactive in the dark. The ensuing excess opening of cGMP-gated cation channels causes intracellular ...

    • Photoreceptor Rescue by an Abbreviated Human RPGR Gene in a Murine Model of X-linked Retinitis Pigmentosa 

      Pawlyk, Basil S.; Adamian, Michael; Sun, Xun; Bulgakov, Oleg V.; Shu, Xinhua; Smith, Alexander J.; Berson, Eliot L.; Ali, Robin R.; Khani, Shahrokh; F.Wright, Alan; Sandberg, Michael A.; Li, Tiansen (2015)
      The X-linked RP3 gene codes for the ciliary protein RPGR and accounts for over 10% of inherited retinal degenerations. The critical RPGR-ORF15 splice variant contains a highly repetitive purine-rich linker region that ...