Now showing items 1-5 of 5

    • Molecular Genetics of FAM161A in North American Patients with Early-Onset Retinitis Pigmentosa 

      Venturini, Giulia; Di Gioia, Silvio Alessandro; Harper, Shyana; Weigel-DiFranco, Carol; Rivolta, Carlo; Berson, Eliot L. (Public Library of Science, 2014)
      Retinitis pigmentosa (RP) is a hereditary disease that leads to the progressive degeneration of retinal photoreceptor cells and to blindness. It is caused by mutations in several distinct genes, including the ciliary gene ...
    • Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa 

      Benaglio, Paola; San Jose, Patricia Fernandez; Avila-Fernandez, Almudena; Ascari, Giulia; Harper, Shyana; Manes, Gaël; Ayuso, Carmen; Hamel, Christian; Berson, Eliot L.; Rivolta, Carlo (Molecular Vision, 2014)
      Purpose Mutations in genes encoding proteins from the tri-snRNP complex of the spliceosome account for more than 12% of cases of autosomal dominant retinitis pigmentosa (adRP). Although the exact mechanism by which splicing ...
    • NMNAT1 Mutations Cause Leber Congenital Amaurosis 

      Falk, Marni J; Nakamaru-Ogiso, Eiko; Kannabiran, Chitra; Chakarova, Christina; Audo, Isabelle; Mackay, Donna S; Zeitz, Christina; Borman, Arundhati Dev; Shukla, Rachna; Palavalli, Lakshmi; Mohand-Said, Saddek; Waseem, Naushin H; Jalali, Subhadra; Perin, Juan C; Ostrovsky, Julian; Xiao, Rui; Bhattacharya, Shomi S; Webster, Andrew R; Sahel, José-Alain; Moore, Anthony T; Gai, Xiaowu; Zhang, Qi; Kelly, Zoe; Staniszewska, Magdalena; Place, Emily Margaret; Consugar, Mark Bryant; Berson, Eliot Lawrence; Liu, Qin; Pierce, Eric Adam (Nature Publishing Group, 2012)
      Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration characterized by severe vision loss. Two-thirds of LCA cases are caused by mutations in 17 known disease genes (RetNet Retinal ...
    • 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 ...
    • Search for a Correlation between Telomere Length and Severity of Retinitis Pigmentosa due to the Dominant Rhodopsin Pro23His Mutation 

      Hartong, Dyonne T.; McGee, Terri L.; Sandberg, Michael Arthur; Berson, Eliot Lawrence; Asselbergs, Folkert W.; van der Harst, Pim; De Vivo, Immaculata; Dryja, Thaddeus Peter (Molecular Vision, 2009)
      Purpose: Great variation exists in the age of onset of symptoms and the severity of disease at a given age in patients with retinitis pigmentosa (RP). The final pathway for this disease may involve apoptotic photoreceptor ...