Literature DB >> 27868054

Unraveling the mysteries of pre-mRNA splicing in the retina via stem cell technology.

Rob W J Collin1.   

Abstract

Year:  2016        PMID: 27868054      PMCID: PMC5104582          DOI: 10.21037/sci.2016.10.05

Source DB:  PubMed          Journal:  Stem Cell Investig        ISSN: 2306-9759


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  44 in total

1.  Integration-free induced pluripotent stem cells derived from retinitis pigmentosa patient for disease modeling.

Authors:  Zi-Bing Jin; Satoshi Okamoto; Ping Xiang; Masayo Takahashi
Journal:  Stem Cells Transl Med       Date:  2012-06-01       Impact factor: 6.940

2.  CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content.

Authors:  Branch Craige; Che-Chia Tsao; Dennis R Diener; Yuqing Hou; Karl-Ferdinand Lechtreck; Joel L Rosenbaum; George B Witman
Journal:  J Cell Biol       Date:  2010-09-06       Impact factor: 10.539

3.  Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial.

Authors:  Albert M Maguire; Katherine A High; Alberto Auricchio; J Fraser Wright; Eric A Pierce; Francesco Testa; Federico Mingozzi; Jeannette L Bennicelli; Gui-shuang Ying; Settimio Rossi; Ann Fulton; Kathleen A Marshall; Sandro Banfi; Daniel C Chung; Jessica I W Morgan; Bernd Hauck; Olga Zelenaia; Xiaosong Zhu; Leslie Raffini; Frauke Coppieters; Elfride De Baere; Kenneth S Shindler; Nicholas J Volpe; Enrico M Surace; Carmela Acerra; Arkady Lyubarsky; T Michael Redmond; Edwin Stone; Junwei Sun; Jennifer Wellman McDonnell; Bart P Leroy; Francesca Simonelli; Jean Bennett
Journal:  Lancet       Date:  2009-10-23       Impact factor: 79.321

4.  Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

Authors:  Valeska Frank; Anneke I den Hollander; Nadina Ortiz Brüchle; Marijke N Zonneveld; Gudrun Nürnberg; Christian Becker; Gabriele Du Bois; Heide Kendziorra; Susanne Roosing; Jan Senderek; Peter Nürnberg; Frans P M Cremers; Klaus Zerres; Carsten Bergmann
Journal:  Hum Mutat       Date:  2008-01       Impact factor: 4.878

5.  Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial.

Authors:  Nicola G Ghazi; Emad B Abboud; Sawsan R Nowilaty; Hisham Alkuraya; Abdulrahman Alhommadi; Huimin Cai; Rui Hou; Wen-Tao Deng; Sanford L Boye; Abdulrahman Almaghamsi; Fahad Al Saikhan; Hassan Al-Dhibi; David Birch; Christopher Chung; Dilek Colak; Matthew M LaVail; Douglas Vollrath; Kirsten Erger; Wenqiu Wang; Thomas Conlon; Kang Zhang; William Hauswirth; Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2016-01-29       Impact factor: 4.132

6.  Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Authors:  Isabelle Perrault; Nathalie Delphin; Sylvain Hanein; Sylvie Gerber; Jean-Louis Dufier; Olivier Roche; Sabine Defoort-Dhellemmes; Hélène Dollfus; Elisa Fazzi; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
Journal:  Hum Mutat       Date:  2007-04       Impact factor: 4.878

7.  Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa.

Authors:  Budd A Tucker; Robert F Mullins; Luan M Streb; Kristin Anfinson; Mari E Eyestone; Emily Kaalberg; Megan J Riker; Arlene V Drack; Terry A Braun; Edwin M Stone
Journal:  Elife       Date:  2013-08-27       Impact factor: 8.140

8.  Generation, purification and transplantation of photoreceptors derived from human induced pluripotent stem cells.

Authors:  Deepak A Lamba; Andrew McUsic; Roli K Hirata; Pei-Rong Wang; David Russell; Thomas A Reh
Journal:  PLoS One       Date:  2010-01-20       Impact factor: 3.240

9.  Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.

Authors:  Robert E MacLaren; Markus Groppe; Alun R Barnard; Charles L Cottriall; Tanya Tolmachova; Len Seymour; K Reed Clark; Matthew J During; Frans P M Cremers; Graeme C M Black; Andrew J Lotery; Susan M Downes; Andrew R Webster; Miguel C Seabra
Journal:  Lancet       Date:  2014-01-16       Impact factor: 79.321

10.  Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT).

Authors:  Hendrik P N Scholl; Anthony T Moore; Robert K Koenekoop; Yuquan Wen; Gerald A Fishman; L Ingeborgh van den Born; Ava Bittner; Kristen Bowles; Emily C Fletcher; Frederick T Collison; Gislin Dagnelie; Simona Degli Eposti; Michel Michaelides; David A Saperstein; Ronald A Schuchard; Claire Barnes; Wadih Zein; Ditta Zobor; David G Birch; Janine D Mendola; Eberhart Zrenner
Journal:  PLoS One       Date:  2015-12-10       Impact factor: 3.240

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