المؤلفون: Don, EK, Formella, I, Badrock, AP, Hall, TE, Morsch, M, Hortle, E, Hogan, A, Chow, S, Gwee, SSL, Stoddart, JJ, Nicholson, G, Chung, R, Cole, NJ

مصطلحات موضوعية: Recombination, Genetic, Genetic Vectors, Green Fluorescent Proteins, DNA, Recombinant, Gene Transfer Techniques, Neurodegenerative Diseases, 0608 Zoology, Animals, Genetically Modified, DNA Transposable Elements, Animals, Nervous System Diseases, Promoter Regions, Genetic, Zebrafish, Developmental Biology

وصف الملف: Print-Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______363::d811170978f7b1023a7100d3c73e3046
https://hdl.handle.net/10453/161221

المؤلفون: Withers SE; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom.; Geoffrey Jefferson Brain Research Centre, The Manchester Academic Health Science Centre, Northern Care Alliance National Health Service (NHS) Foundation Trust, The University of Manchester, Manchester, United Kingdom., Rowlands CF; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University National Health Service (NHS) Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom., Tapia VS; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom.; Geoffrey Jefferson Brain Research Centre, The Manchester Academic Health Science Centre, Northern Care Alliance National Health Service (NHS) Foundation Trust, The University of Manchester, Manchester, United Kingdom., Hedley F; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom.; Geoffrey Jefferson Brain Research Centre, The Manchester Academic Health Science Centre, Northern Care Alliance National Health Service (NHS) Foundation Trust, The University of Manchester, Manchester, United Kingdom., Mosneag IE; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom.; Geoffrey Jefferson Brain Research Centre, The Manchester Academic Health Science Centre, Northern Care Alliance National Health Service (NHS) Foundation Trust, The University of Manchester, Manchester, United Kingdom., Crilly S; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom.; Geoffrey Jefferson Brain Research Centre, The Manchester Academic Health Science Centre, Northern Care Alliance National Health Service (NHS) Foundation Trust, The University of Manchester, Manchester, United Kingdom., Rice GI; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University National Health Service (NHS) Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom., Badrock AP; Medical Research Council (MRC) Human Genetics Unit, University of Edinburgh, Edinburgh, United Kingdom., Hayes A; Genomic Technologies Core Facility, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom., Allan SM; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom.; Geoffrey Jefferson Brain Research Centre, The Manchester Academic Health Science Centre, Northern Care Alliance National Health Service (NHS) Foundation Trust, The University of Manchester, Manchester, United Kingdom.; Lydia Becker Institute of Immunology and Inflammation, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom., Briggs TA; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University National Health Service (NHS) Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom.; Lydia Becker Institute of Immunology and Inflammation, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom., Kasher PR; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom.; Geoffrey Jefferson Brain Research Centre, The Manchester Academic Health Science Centre, Northern Care Alliance National Health Service (NHS) Foundation Trust, The University of Manchester, Manchester, United Kingdom.; Lydia Becker Institute of Immunology and Inflammation, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom.

المصدر: Frontiers in immunology [Front Immunol] 2023 Mar 06; Vol. 14, pp. 1100967. Date of Electronic Publication: 2023 Mar 06 (Print Publication: 2023).

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

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Autoimmune Diseases of the Nervous System*/genetics , Autoimmune Diseases of the Nervous System*/metabolism , Interferon Type I*/genetics , Interferon Type I*/metabolism , Nervous System Malformations*/genetics , Nervous System Malformations*/metabolism, Animals ; Mice ; SAM Domain and HD Domain-Containing Protein 1/genetics ; Zebrafish/genetics ; Zebrafish/metabolism

SCR Disease Name: Aicardi-Goutieres syndrome

المؤلفون: Wilcock DJ; Division of Cancer Studies, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK., Badrock AP; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Dover Street, Manchester M13 9PT, UK., Wong CW; Division of Infection Immunity and Respiratory Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Dover Street, Manchester M13 9PT, UK., Owen R; Division of Cancer Studies, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK., Guerin M; Program in Molecular Medicine, Department of Molecular, Cell and Cancer Biology, University of Massachusetts Medical School, Worcester, MA 01605, USA., Southam AD; School of Biosciences, Edgbaston, University of Birmingham, Birmingham B15 2TT, UK; Phenome Centre Birmingham, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK., Johnston H; Division of Cancer Studies, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK., Telfer BA; Division of Cancer Studies, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK., Fullwood P; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Dover Street, Manchester M13 9PT, UK., Watson J; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Dover Street, Manchester M13 9PT, UK., Ferguson H; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Dover Street, Manchester M13 9PT, UK., Ferguson J; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Dover Street, Manchester M13 9PT, UK., Lloyd GR; School of Biosciences, Edgbaston, University of Birmingham, Birmingham B15 2TT, UK; Phenome Centre Birmingham, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK., Jankevics A; School of Biosciences, Edgbaston, University of Birmingham, Birmingham B15 2TT, UK; Phenome Centre Birmingham, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK., Dunn WB; School of Biosciences, Edgbaston, University of Birmingham, Birmingham B15 2TT, UK; Phenome Centre Birmingham, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK; Institute of Metabolism and Systems Research, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK., Wellbrock C; Division of Cancer Studies, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK., Lorigan P; Division of Cancer Studies, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK; Department of Medical Oncology, The Christie NHS Foundation Trust, Wilmslow Road, Withington, Manchester M20 4BX, UK., Ceol C; Program in Molecular Medicine, Department of Molecular, Cell and Cancer Biology, University of Massachusetts Medical School, Worcester, MA 01605, USA., Francavilla C; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Dover Street, Manchester M13 9PT, UK., Smith MP; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Dover Street, Manchester M13 9PT, UK. Electronic address: michael.smith-8@manchester.ac.uk., Hurlstone AFL; Division of Infection Immunity and Respiratory Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Dover Street, Manchester M13 9PT, UK; Lydia Becker Institute of Immunology, The University of Manchester, Dover Street, Manchester M13 9PT, UK. Electronic address: adam.hurlstone@manchester.ac.uk.

المصدر: Cell reports [Cell Rep] 2022 Jun 21; Vol. 39 (12), pp. 110995.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

مواضيع طبية MeSH: Diacylglycerol O-Acyltransferase*/genetics , Diacylglycerol O-Acyltransferase*/metabolism , Melanoma*, Animals ; Oncogene Proteins/metabolism ; Oxidative Stress ; Reactive Oxygen Species ; Triglycerides ; Zebrafish/metabolism

المؤلفون: Gabryelska MM; MRC Human Genetics Unit, University of Edinburgh, Edinburgh, EH4 2XU, United Kingdom.; Flinders Health and Medical Research Institute, College of Medicine and Public Health, Flinders University, Bedford Park, South Australia 5042, Australia., Badrock AP; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, United Kingdom., Lau JY; MRC Human Genetics Unit, University of Edinburgh, Edinburgh, EH4 2XU, United Kingdom., O'Keefe RT; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, M13 9PL, United Kingdom., Crow YJ; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, United Kingdom., Kudla G; MRC Human Genetics Unit, University of Edinburgh, Edinburgh, EH4 2XU, United Kingdom.

المصدر: Genome research [Genome Res] 2022 May; Vol. 32 (5), pp. 956-967. Date of Electronic Publication: 2022 Mar 24.

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

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE

مواضيع طبية MeSH: COVID-19* , Zika Virus*/genetics , Zika Virus Infection*/genetics, Animals ; Base Sequence ; RNA, Small Nucleolar/genetics ; RNA, Viral/genetics ; SARS-CoV-2/genetics ; Zebrafish/genetics

المؤلفون: Don EK; Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Department of Biomedical Sciences, Macquarie University, Sydney, NSW, 2109, Australia., Maschirow A; Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Department of Biomedical Sciences, Macquarie University, Sydney, NSW, 2109, Australia., Radford RAW; Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Department of Biomedical Sciences, Macquarie University, Sydney, NSW, 2109, Australia., Scherer NM; Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Department of Biomedical Sciences, Macquarie University, Sydney, NSW, 2109, Australia., Vidal-Itriago A; Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Department of Biomedical Sciences, Macquarie University, Sydney, NSW, 2109, Australia., Hogan A; Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Department of Biomedical Sciences, Macquarie University, Sydney, NSW, 2109, Australia., Maurel C; Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Department of Biomedical Sciences, Macquarie University, Sydney, NSW, 2109, Australia., Formella I; Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Department of Biomedical Sciences, Macquarie University, Sydney, NSW, 2109, Australia., Stoddart JJ; Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Department of Biomedical Sciences, Macquarie University, Sydney, NSW, 2109, Australia., Hall TE; Institute for Molecular Bioscience, The University of Queensland, QLD, St Lucia, 4072, Australia., Lee A; Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Department of Biomedical Sciences, Macquarie University, Sydney, NSW, 2109, Australia., Shi B; Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Department of Biomedical Sciences, Macquarie University, Sydney, NSW, 2109, Australia., Cole NJ; Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Department of Biomedical Sciences, Macquarie University, Sydney, NSW, 2109, Australia., Laird AS; Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Department of Biomedical Sciences, Macquarie University, Sydney, NSW, 2109, Australia., Badrock AP; Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Department of Biomedical Sciences, Macquarie University, Sydney, NSW, 2109, Australia. andrew.badrock@igmm.ed.ac.uk., Chung RS; Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Department of Biomedical Sciences, Macquarie University, Sydney, NSW, 2109, Australia., Morsch M; Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Department of Biomedical Sciences, Macquarie University, Sydney, NSW, 2109, Australia. marco.morsch@mq.edu.au.

المصدر: Molecular neurobiology [Mol Neurobiol] 2021 May; Vol. 58 (5), pp. 2061-2074. Date of Electronic Publication: 2021 Jan 07.

نوع المنشور: Journal Article; Validation Study

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 8900963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1182 (Electronic) Linking ISSN: 08937648 NLM ISO Abbreviation: Mol Neurobiol Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis/*metabolism , Motor Cortex/*metabolism , Motor Neurons/*metabolism , Protein Aggregation, Pathological/*metabolism , Spinal Cord/*metabolism, Amyotrophic Lateral Sclerosis/pathology ; Animals ; Fluorescence ; Inclusion Bodies/metabolism ; Inclusion Bodies/pathology ; Motor Cortex/pathology ; Motor Neurons/pathology ; Protein Aggregation, Pathological/pathology ; Spinal Cord/pathology ; Zebrafish

المؤلفون: Badrock AP; Faculty of Biology, Medicine and Health, School of Biological Sciences, The University of Manchester, Manchester, UK., Hurlstone A; Faculty of Biology, Medicine and Health, School of Biological Sciences, The University of Manchester, Manchester, UK. adam.hurlstone@manchester.ac.uk.

المصدر: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2021; Vol. 2262, pp. 411-422.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

مواضيع طبية MeSH: Disease Models, Animal* , Mutation*, Cell Transformation, Neoplastic/*pathology , Melanoma/*pathology , Transgenes/*genetics , ras Proteins/*metabolism, Animals ; Animals, Genetically Modified ; Cell Transformation, Neoplastic/genetics ; Cell Transformation, Neoplastic/metabolism ; Humans ; Melanoma/genetics ; Melanoma/metabolism ; Zebrafish ; ras Proteins/genetics

المؤلفون: Crow YJ; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Université de Paris, Paris, France., Marshall H; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Rice GI; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK., Seabra L; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Université de Paris, Paris, France., Jenkinson EM; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK., Baranano K; Department of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Battini R; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy., Berger A; Department of Neuropediatrics, Kliniken Nordoberpfalz AG, Germany., Blair E; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Blauwblomme T; Paediatric Neurosurgery Department, Necker-Enfants Malades Hospital, APHP, Université de Paris, Paris, France., Bolduc F; Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada., Boddaert N; Paediatric Radiology Department, Hôpital Necker Enfants Malades, AP-HP, University de Paris, INSERM U1163, Institut Imagine, Paris, France., Buckard J; Department of Neuropediatrics, Sozialpädiatrisches Zentrum am EVK Düsseldorf, Düsseldorf, Germany., Burnett H; HNEkidsRehab, Newcastle, New South Wales, Australia., Calvert S; Neurosciences Department, Queensland Children's Hospital, Brisbane, Queensland, Australia., Caumes R; Clinique de Génétique Guy Fontaine, CHU Lille, Lille, France., Ng AC; Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada., Chiang D; Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada., Clifford DB; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA., Cordelli DM; Child Neurology and Psychiatry Unit, Department of Medical and Surgical Sciences (DIMEC), S. Orsola Hospital, University of Bologna, Italy., de Burca A; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Demic N; Department of Neurology, Vestfold Hospital, Tønsberg, Norway., Desguerre I; Department of Paediatric Neurology, Université de Paris, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., De Waele L; Department of Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium.; Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Di Fonzo A; Foundation IRCCS Ca 'Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Dunham SR; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA., Dyack S; Division of Medical Genetics, Dalhousie University, Halifax, Nova Scotia, Canada., Elmslie F; South West Thames Regional Genetics Service, St George's, University of London, London, UK., Ferrand M; Department of Neurology, CHRU Nancy, Nancy, France., Fisher G; Department of Paediatric Neurology, University Hospital of Wales, Cardiff, UK., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's University of London, London, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran., Ghoumid J; Clinique de Génétique Guy Fontaine, CHU Lille, Lille, France., Gibbon F; Department of Paediatric Neurology, University Hospital of Wales, Cardiff, UK., Goel H; Hunter Genetics, Hunter New England Local Health District, Waratah, Australia.; School of Medicine and Public Health, University of Newcastle, Callaghan, Australia., Hilmarsen HT; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Hughes I; Department of Paediatric Neurology, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Jacob A; Department of Neurology, The Walton Centre NHS Trust, Liverpool, UK.; Department of Neurology, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates., Jones EA; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.; Clinical Genetic Service, Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Kumar R; Department of Paediatric Neurology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK., Leventer RJ; Department of Neurology Royal Children's Hospital, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., MacDonald S; Maritime Medical Genetics, IWK Health Centre, Halifax, Nova Scotia, Canada., Maroofian R; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London, UK., Mehta SG; East Anglian Regional Genetics Service, Addenbrookes Hospital, Cambridge, UK., Metz I; Department of Neuropathology, University Medical Center, Georg August University, Göttingen, Germany., Monfrini E; Foundation IRCCS Ca 'Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Neumann D; Klinikum Wilhelmshaven, Department of Neuropediatrics, Germany., Noetzel M; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.; Department of Pediatrics, Washington University School of Medicine, St. Louis, Washington, USA., O'Driscoll M; West Midlands Regional Clinical Genetics Service, Birmingham Health Partners, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK., Õunap K; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia., Panzer A; Paediatric Neurology, DRK Kliniken Berlin-Westend, Berlin, Germany., Parikh S; Neurogenetics Program, Center for Pediatric Neurology, Neurosciences Institute, Cleveland Clinic, Cleveland, Ohio, USA., Prabhakar P; Department of Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Ramond F; Service de Génétique, CHU-Hôpital Nord, Saint Etienne, France., Sandford R; Academic Department of Medical Genetics, University of Cambridge School of Clinical Medicine, Cambridge, UK., Saneto R; Neuroscience Institute, Division of Paediatric Neurology, Seattle Children's Hospital and University of Washington, Seattle, Washington, USA.; Department of Neurology, Seattle Children's Hospital and University of Washington, Seattle, Washington, USA., Soh C; Radiology Department, Manchester University Foundation NHS Trust, Manchester, UK., Stutterd CA; Victorian Clinical Genetics Service, Parkville, Australia., Subramanian GM; Department of Paediatric Neurology, John Hunter Children's Hospital, New Lambton Heights, New South Wales, Australia., Talbot K; Nuffield Department of Clinical Neurosciences, Oxford University, Oxford, UK., Thomas RH; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Toro C; NIH Undiagnosed Diseases Program (UDP), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Touraine R; Neuroscience Institute, Division of Paediatric Neurology, Seattle Children's Hospital and University of Washington, Seattle, Washington, USA., Wakeling E; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Wassmer E; Department of Paediatric Neurology, Birmingham Children's Hospital, Birmingham, UK., Whitney A; University Hospital Southampton NHS Foundation Trust, Department of Paediatric Neurology, Southampton, UK., Livingston JH; Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK., O'Keefe RT; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK., Badrock AP; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jan; Vol. 185 (1), pp. 15-25. Date of Electronic Publication: 2020 Oct 07.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*, Calcinosis/*genetics , Leukoencephalopathies/*genetics , RNA, Small Nucleolar/*genetics, Adolescent ; Adult ; Aged ; Animals ; Calcinosis/complications ; Calcinosis/pathology ; Child ; Child, Preschool ; Consanguinity ; Disease Models, Animal ; Female ; Heterozygote ; Humans ; Infant ; Infant, Newborn ; Leukoencephalopathies/complications ; Leukoencephalopathies/pathology ; Male ; Middle Aged ; Pathology, Molecular ; Young Adult ; Zebrafish/genetics

المؤلفون: Uggenti C; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Lepelley A; University of Paris, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, Paris, France., Depp M; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Badrock AP; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Rodero MP; University of Paris, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, Paris, France., El-Daher MT; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Rice GI; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Dhir S; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Wheeler AP; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Dhir A; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Albawardi W; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Frémond ML; University of Paris, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, Paris, France., Seabra L; University of Paris, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, Paris, France., Doig J; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Blair N; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Martin-Niclos MJ; University of Paris, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, Paris, France., Della Mina E; University of Paris, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, Paris, France., Rubio-Roldán A; Centre for Genomics and Oncological Research (GENyO), Pfizer-University of Granada-Andalusian Regional Government, Parque Tecnico de la Ciencia de Salud, Granada, Spain., García-Pérez JL; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.; Centre for Genomics and Oncological Research (GENyO), Pfizer-University of Granada-Andalusian Regional Government, Parque Tecnico de la Ciencia de Salud, Granada, Spain., Sproul D; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.; Cancer Research UK Edinburgh Centre, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Rehwinkel J; Medical Research Council Human Immunology Unit, Medical Research Council Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Hertzog J; Medical Research Council Human Immunology Unit, Medical Research Council Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Boland-Auge A; Université Paris-Saclay, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, Centre National de Recherche en Génomique Humaine, Évry, France., Olaso R; Université Paris-Saclay, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, Centre National de Recherche en Génomique Humaine, Évry, France., Deleuze JF; Université Paris-Saclay, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, Centre National de Recherche en Génomique Humaine, Évry, France., Baruteau J; University College London Great Ormond Street Institute of Child Health, London, UK., Brochard K; Service de Médecine Interne Néphrologie Pédiatrique, Hôpital des Enfants, Toulouse, France., Buckley J; Department of Paediatric Nephrology, University of Cape Town, Red Cross War Memorial Children's Hospital, Cape Town, South Africa., Cavallera V; Child Neurology and Psychiatry Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Mondino Foundation, Pavia, Italy., Cereda C; Genomic and Post-Genomic Center, Istituto di Ricovero e Cura a Carattere Scientifico, Mondino Foundation, Pavia, Italy., De Waele LMH; Department of Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium., Dobbie A; Yorkshire Clinical Genetics Service, Chapel Allerton Hospital, Leeds, UK., Doummar D; Sorbonne Université, Assistance Publique-Hôpitaux de Paris, Département de Neuropédiatrie, Centre de Référence de Neurogénétique et Mouvements Anormaux de l'Enfant, Hôpital Armand Trousseau, Paris, France., Elmslie F; South West Thames Regional Genetics Service, St George's, University of London, London, UK., Koch-Hogrebe M; Department of Paediatric Neurology, Children's Hospital Datteln, Witten/Herdecke University, Datteln, Germany., Kumar R; Department of Paediatric Neurology, Alder Hey Children's National Health Service Foundation Trust, Liverpool, UK., Lamb K; Department of Paediatrics, Gloucestershire Royal Hospital, Gloucester, UK., Livingston JH; Department of Paediatric Neurology, Leeds Teaching Hospitals National Health Service Trust, Leeds, UK., Majumdar A; Department of Paediatric Neurology, Bristol Children's Hospital, Bristol, UK., Lorenço CM; Faculdade de Medicina - Centro Universitário Estácio de Ribeirão Preto, Ribeirão Preto, Brazil., Orcesi S; Child Neurology and Psychiatry Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Mondino Foundation, Pavia, Italy.; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy., Peudenier S; Centre de Référence des Déficiences Intellectuelles de Causes Rares et Polyhandicap, Centre Hospitalier Régional Universitaire de Brest, Brest, France., Rostasy K; Department of Paediatric Neurology, Children's Hospital Datteln, Witten/Herdecke University, Datteln, Germany., Salmon CA; Department of Paediatrics, Royal Surrey County Hospital, Guildford, UK., Scott C; University of Cape Town, Red Cross War Memorial Children's Hospital, Cape Town, South Africa., Tonduti D; Center for diagnosis and treatment of Leukodystrophies, Pediatric Neurology Unit, V. Buzzi Children's Hospital, Milano, Italy., Touati G; Reference Center for Inborn Errors of Metabolism-Department of Pediatrics, Hôpital des Enfants-Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Valente M; Genomic and Post-Genomic Center, Istituto di Ricovero e Cura a Carattere Scientifico, Mondino Foundation, Pavia, Italy., van der Linden H Jr; Department of Paediatric Neurology, Neurological Institute of Goiânia, Goiânia, Brazil., Van Esch H; Center for Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium., Vermelle M; Department of Paediatrics, Centre Hospitalier de Dunkerque, Dunkerque, France., Webb K; University of Cape Town, Red Cross War Memorial Children's Hospital, Cape Town, South Africa., Jackson AP; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Reijns MAM; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Gilbert N; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK., Crow YJ; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK. yanickcrow@mac.com.; University of Paris, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, Paris, France. yanickcrow@mac.com.

المصدر: Nature genetics [Nat Genet] 2020 Dec; Vol. 52 (12), pp. 1364-1372. Date of Electronic Publication: 2020 Nov 23.

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

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromatin/*metabolism , Histones/*metabolism , Interferon Type I/*biosynthesis , RNA Precursors/*metabolism , RNA-Binding Proteins/*genetics , Ribonucleoprotein, U7 Small Nuclear/*genetics, Autoimmune Diseases of the Nervous System/genetics ; Autoimmune Diseases of the Nervous System/immunology ; Cell Line ; DNA/immunology ; Gene Expression Regulation/genetics ; Gene Expression Regulation/immunology ; HCT116 Cells ; HEK293 Cells ; Hereditary Autoinflammatory Diseases/genetics ; Hereditary Autoinflammatory Diseases/immunology ; Humans ; Membrane Proteins/metabolism ; Nervous System Malformations/genetics ; Nervous System Malformations/immunology ; Nucleotides, Cyclic/biosynthesis ; Nucleotidyltransferases/metabolism

SCR Disease Name: Aicardi-Goutieres syndrome

المؤلفون: Bottiglione F; Lydia Becker Institute of Immunology and Inflammation, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, United Kingdom; and., Dee CT; Lydia Becker Institute of Immunology and Inflammation, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, United Kingdom; and., Lea R; Lydia Becker Institute of Immunology and Inflammation, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, United Kingdom; and., Zeef LAH; Lydia Becker Institute of Immunology and Inflammation, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, United Kingdom; and., Badrock AP; Lydia Becker Institute of Immunology and Inflammation, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, United Kingdom; and., Wane M; Department of Life Sciences, Faculty of Natural Sciences, Imperial College London, London SW7 2AZ, United Kingdom., Bugeon L; Department of Life Sciences, Faculty of Natural Sciences, Imperial College London, London SW7 2AZ, United Kingdom., Dallman MJ; Department of Life Sciences, Faculty of Natural Sciences, Imperial College London, London SW7 2AZ, United Kingdom., Allen JE; Lydia Becker Institute of Immunology and Inflammation, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, United Kingdom; and., Hurlstone AFL; Lydia Becker Institute of Immunology and Inflammation, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, United Kingdom; and adam.hurlstone@manchester.ac.uk.

المصدر: Journal of immunology (Baltimore, Md. : 1950) [J Immunol] 2020 Aug 15; Vol. 205 (4), pp. 994-1008. Date of Electronic Publication: 2020 Jul 08.

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

بيانات الدورية: Publisher: American Association of Immunologists Country of Publication: United States NLM ID: 2985117R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1550-6606 (Electronic) Linking ISSN: 00221767 NLM ISO Abbreviation: J Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Fish Proteins/*immunology , Gills/*immunology , Homeostasis/*immunology , Inflammation/*immunology , Interleukin-10/*immunology , Interleukin-4/*immunology , Zebrafish/*immunology, Animals ; Immunity/immunology ; Interleukin-13/immunology ; Mammals/immunology

المؤلفون: Badrock AP; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK. Electronic address: andrew.badrock@igmm.ed.ac.uk., Uggenti C; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK; Université de Paris, Paris, France; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France., Wacheul L; RNA Molecular Biology, ULB Cancer Research Center (U-CRC), Center for Microscopy and Molecular Imaging (CMMI), Fonds de la Recherche Scientifique (F.R.S.-FNRS), Université Libre de Bruxelles (ULB), BioPark Campus, B-6041, Gosselies, Belgium., Crilly S; Division of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, M13 9PT, UK., Jenkinson EM; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PT, UK., Rice GI; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PT, UK., Kasher PR; Division of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, M13 9PT, UK., Lafontaine DLJ; RNA Molecular Biology, ULB Cancer Research Center (U-CRC), Center for Microscopy and Molecular Imaging (CMMI), Fonds de la Recherche Scientifique (F.R.S.-FNRS), Université Libre de Bruxelles (ULB), BioPark Campus, B-6041, Gosselies, Belgium., Crow YJ; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK; Université de Paris, Paris, France; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France., O'Keefe RT; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PT, UK. Electronic address: rokeefe@manchester.ac.uk.

المصدر: American journal of human genetics [Am J Hum Genet] 2020 May 07; Vol. 106 (5), pp. 694-706. Date of Electronic Publication: 2020 Apr 30.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Alleles* , Mutation*, Calcinosis/*genetics , Central Nervous System Cysts/*genetics , Cysts/*genetics , Leukoencephalopathies/*genetics , RNA, Small Nucleolar/*genetics , Zebrafish/*genetics, Animals ; Base Sequence ; Calcinosis/pathology ; Central Nervous System Cysts/pathology ; Conserved Sequence ; Disease Models, Animal ; Embryonic Development/genetics ; Humans ; Leukoencephalopathies/pathology ; Tumor Suppressor Protein p53/genetics ; Tumor Suppressor Protein p53/metabolism ; Zebrafish/embryology ; Zebrafish Proteins/genetics ; Zebrafish Proteins/metabolism