المؤلفون: Poulter, JA, Gravett, MSC, Taylor, RL, Fujinami, K, De Zaeytijd, J, Bellingham, J, Rehman, AU, Hayashi, T, Kondo, M, Rehman, A, Ansar, M, Donnelly, D, Toomes, C, Ali, M, UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, De Baere, E, Leroy, BP, Davies, NP, Henderson, RH, Webster, AR, Rivolta, C, Mahroo, OA, Arno, G, Black, GCM, McKibbin, M, Harris, SA, Khan, KN, Inglehearn, CF

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::133dcfc6b435d7d289822b9ed48e03fb
https://eprints.whiterose.ac.uk/168583/1/humu.24140.pdf

المؤلفون: Poulter JA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Gravett MSC; School of Molecular and Cellular Biology, University of Leeds, Leeds, UK., Taylor RL; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK., Fujinami K; National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Centre, Tokyo, Japan.; Moorfields Eye Hospital, London, UK.; UCL Institute of Ophthalmology, London, UK.; Keio University School of Medicine, Tokyo, Japan., De Zaeytijd J; Ghent University, Ghent, Belgium., Bellingham J; UCL Institute of Ophthalmology, London, UK., Rehman AU; Division of Genetic Medicine, Centre Hospitalier Universitaire Vaudois (CHUV), University of Lausanne, Lausanne, Switzerland., Hayashi T; The Jikei University School of Medicine, Tokyo, Japan., Kondo M; Mie University Graduate School of Medicine, Mie, Japan., Rehman A; Department of Genetics, Faculty of Science, Hazara University Mansehra, Dhodial, Pakistan., Ansar M; Clinical Research Center, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland., Donnelly D; School of Biomedical Sciences, University of Leeds, Leeds, UK., Toomes C; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Ali M; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., De Baere E; Ghent University, Ghent, Belgium., Leroy BP; Ghent University, Ghent, Belgium.; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Davies NP; St Thomas's Hospital, London, UK., Henderson RH; Department of Ophthalmology, Great Ormond Street Hospital, London, UK., Webster AR; Moorfields Eye Hospital, London, UK.; UCL Institute of Ophthalmology, London, UK., Rivolta C; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.; Clinical Research Center, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University Hospital Basel, Basel, Switzerland., Zeitz C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Mahroo OA; Moorfields Eye Hospital, London, UK.; UCL Institute of Ophthalmology, London, UK., Arno G; National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Centre, Tokyo, Japan.; Moorfields Eye Hospital, London, UK.; UCL Institute of Ophthalmology, London, UK., Black GCM; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., McKibbin M; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; Leeds Teaching Hospitals NHS Trust, St James' University Hospital, Leeds, UK., Harris SA; School of Physics and Astronomy, University of Leeds, Leeds, UK., Khan KN; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.

مؤلفون مشاركون: UK Inherited Retinal Disease Consortium, Genomics England Research Consortium

المصدر: Human mutation [Hum Mutat] 2021 Feb; Vol. 42 (2), pp. 164-176. Date of Electronic Publication: 2020 Nov 30.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Eye Diseases, Hereditary*/genetics , G-Protein-Coupled Receptor Kinase 1*/genetics , Night Blindness*/genetics, Humans

SCR Disease Name: Oguchi disease

المؤلفون: Klebl DP; School of Biomedical Sciences, Faculty of Biological Sciences & Astbury Centre for Structural and Molecular Biology, University of Leeds, Leeds LS2 9JT, UK., Gravett MSC; School of Molecular and Cellular Biology, Faculty of Biological Sciences & Astbury Centre for Structural and Molecular Biology, University of Leeds, Leeds LS2 9JT, UK., Kontziampasis D; School of Biomedical Sciences, Faculty of Biological Sciences & Astbury Centre for Structural and Molecular Biology, University of Leeds, Leeds LS2 9JT, UK; School of Chemical and Process Engineering, Faculty of Engineering and Physical Sciences, University of Leeds, Leeds LS2 9JT, UK; Institute of Business, Industry & Leadership, University of Cumbria, Carlisle CA1 2HH, UK., Wright DJ; School of Medicine, Faculty of Medicine and Health & Astbury Centre for Structural and Molecular Biology, University of Leeds, Leeds, UK., Bon RS; School of Medicine, Faculty of Medicine and Health & Astbury Centre for Structural and Molecular Biology, University of Leeds, Leeds, UK., Monteiro DCF; Hauptman-Woodward Medical Research Institute, Buffalo, NY, USA., Trebbin M; Hauptman-Woodward Medical Research Institute, Buffalo, NY, USA; Department of Chemistry, State University of New York at Buffalo, Buffalo, NY, USA., Sobott F; School of Molecular and Cellular Biology, Faculty of Biological Sciences & Astbury Centre for Structural and Molecular Biology, University of Leeds, Leeds LS2 9JT, UK; Department of Chemistry, Biomolecular & Analytical Mass Spectrometry Group, University of Antwerp, Antwerp, Belgium., White HD; Department of Physiological Sciences, Eastern Virginia Medical School, Norfolk, VA, USA., Darrow MC; SPT Labtech, Melbourn Science Park, Melbourn, Cambridge, UK., Thompson RF; School of Molecular and Cellular Biology, Faculty of Biological Sciences & Astbury Centre for Structural and Molecular Biology, University of Leeds, Leeds LS2 9JT, UK. Electronic address: r.f.thompson@leeds.ac.uk., Muench SP; School of Biomedical Sciences, Faculty of Biological Sciences & Astbury Centre for Structural and Molecular Biology, University of Leeds, Leeds LS2 9JT, UK. Electronic address: s.p.muench@leeds.ac.uk.

المصدر: Structure (London, England : 1993) [Structure] 2020 Nov 03; Vol. 28 (11), pp. 1238-1248.e4. Date of Electronic Publication: 2020 Aug 18.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101087697 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-4186 (Electronic) Linking ISSN: 09692126 NLM ISO Abbreviation: Structure Subsets: MEDLINE

مواضيع طبية MeSH: Apoferritins/*ultrastructure , Chaperonin 60/*ultrastructure , Cryoelectron Microscopy/*methods , Imaging, Three-Dimensional/*methods , Mitochondrial Proteins/*ultrastructure , Ribosomal Proteins/*ultrastructure , Ribosomes/*ultrastructure, Air/analysis ; Animals ; Biomarkers/metabolism ; Cryoelectron Microscopy/instrumentation ; Escherichia coli/chemistry ; Gene Expression ; Horses ; Humans ; Imaging, Three-Dimensional/instrumentation ; Surface Properties ; Time Factors ; Vitrification ; Water/chemistry