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Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.
Buskin, Adriana; Zhu, Lili; Chichagova, Valeria; Basu, Basudha; Mozaffari-Jovin, Sina; Dolan, David; Droop, Alastair; Collin, Joseph; Bronstein, Revital; Mehrotra, Sudeep; Farkas, Michael; Hilgen, Gerrit; White, Kathryn; Pan, Kuan-Ting; Treumann, Achim; Hallam, Dean; Bialas, Katarzyna; Chung, Git; Mellough, Carla; Ding, Yuchun; Krasnogor, Natalio; Przyborski, Stefan; Zwolinski, Simon; Al-Aama, Jumana; Alharthi, Sameer; Xu, Yaobo; Wheway, Gabrielle; Szymanska, Katarzyna; McKibbin, Martin; Inglehearn, Chris F; Elliott, David J; Lindsay, Susan; Ali, Robin R; Steel, David H; Armstrong, Lyle; Sernagor, Evelyne; Urlaub, Henning; Pierce, Eric; Lührmann, Reinhard; Grellscheid, Sushma-Nagaraja; Johnson, Colin A; Lako, Majlinda.
Affiliation
  • Buskin A; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
  • Zhu L; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
  • Chichagova V; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
  • Basu B; Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Beckett Street, Leeds, LS9 7TF, UK.
  • Mozaffari-Jovin S; Department of Cellular Biochemistry, Max-Planck-Institute of Biophysical Chemistry, Am Fassberg 11, Goettingen, D-37077, Germany.
  • Dolan D; Department of Biological Sciences, Durham University, South Road, Durham, DH1 3LE, UK.
  • Droop A; MRC Medical Bioinformatics Centre, University of Leeds, Clarendon Way, Leeds, LS2 9JT, UK.
  • Collin J; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
  • Bronstein R; Ocular Genomics Institute, Mass Eye and Ear and Harvard Medical School, 243 Charles Street, Boston, MA, 02114, USA.
  • Mehrotra S; Ocular Genomics Institute, Mass Eye and Ear and Harvard Medical School, 243 Charles Street, Boston, MA, 02114, USA.
  • Farkas M; Departments of Ophthalmology and Biochemistry, Jacobs School of Medicine and Biomedical Science, State University of New York at Buffalo, 955 Main Street, Buffalo, NY, 14203-1121, USA.
  • Hilgen G; Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne, NE1 7RU, UK.
  • White K; Electron Microscopy Research Services, Medical School, Newcastle University, Newcastle upon Tyne, NE1 7RU, UK.
  • Pan KT; Department of Cellular Biochemistry, Max-Planck-Institute of Biophysical Chemistry, Am Fassberg 11, Goettingen, D-37077, Germany.
  • Treumann A; Institute for Cell and Molecular Biosciences, Medical School, Newcastle University, Catherine Cookson Building, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.
  • Hallam D; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
  • Bialas K; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
  • Chung G; Newcastle University Protein and Proteome Analysis (NUPPA), Devonshire Building, Devonshire Terrace, Newcastle upon Tyne, NE1 7RU, UK.
  • Mellough C; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
  • Ding Y; Interdisciplinary Computing and Complex Biosystems (ICOS) Research Group, School of Computing, Newcastle University, Urban Sciences Building, 1 Science Square, Newcastle Helix, Newcastle upon Tyne, NE4 5TG, UK.
  • Krasnogor N; Interdisciplinary Computing and Complex Biosystems (ICOS) Research Group, School of Computing, Newcastle University, Urban Sciences Building, 1 Science Square, Newcastle Helix, Newcastle upon Tyne, NE4 5TG, UK.
  • Przyborski S; Department of Biological Sciences, Durham University, South Road, Durham, DH1 3LE, UK.
  • Zwolinski S; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
  • Al-Aama J; Princess Al Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, 7393 Al-Malae'b St, Jeddah, 22252, Saudi Arabia.
  • Alharthi S; Princess Al Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, 7393 Al-Malae'b St, Jeddah, 22252, Saudi Arabia.
  • Xu Y; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
  • Wheway G; Centre for Research in Biosciences, University of the West of England, Frenchay Campus, Coldharbour Lane, Bristol, BS16 1QY, UK.
  • Szymanska K; Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Beckett Street, Leeds, LS9 7TF, UK.
  • McKibbin M; Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Beckett Street, Leeds, LS9 7TF, UK.
  • Inglehearn CF; Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Beckett Street, Leeds, LS9 7TF, UK.
  • Elliott DJ; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
  • Lindsay S; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
  • Ali RR; UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL, UK.
  • Steel DH; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
  • Armstrong L; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
  • Sernagor E; Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne, NE1 7RU, UK.
  • Urlaub H; Bioanalytical Mass Spectrometry Group, Max-Planck-Institute for Biophysical Chemistry, Am Fassberg 11, Goettingen, D-37077, Germany.
  • Pierce E; Ocular Genomics Institute, Mass Eye and Ear and Harvard Medical School, 243 Charles Street, Boston, MA, 02114, USA.
  • Lührmann R; Department of Cellular Biochemistry, Max-Planck-Institute of Biophysical Chemistry, Am Fassberg 11, Goettingen, D-37077, Germany.
  • Grellscheid SN; Department of Biological Sciences, Durham University, South Road, Durham, DH1 3LE, UK. sushma@cantab.net.
  • Johnson CA; Computational Biology Unit, Department of Biological Sciences, University of Bergen, Thormohlensgt 55, Bergen, N-5008, Norway. sushma@cantab.net.
  • Lako M; Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Beckett Street, Leeds, LS9 7TF, UK. c.johnson@leeds.ac.uk.
Nat Commun ; 9(1): 4234, 2018 10 12.
Article in En | MEDLINE | ID: mdl-30315276
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinitis Pigmentosa / Eye Proteins Type of study: Etiology_studies Limits: Animals / Humans Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2018 Document type: Article Affiliation country: Reino Unido Country of publication: Reino Unido
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinitis Pigmentosa / Eye Proteins Type of study: Etiology_studies Limits: Animals / Humans Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2018 Document type: Article Affiliation country: Reino Unido Country of publication: Reino Unido