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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in <italic>ADAR1</italic> cause Aicardi-Goutières syndrome associated with a type I interferon signature</title><author><name sortKey="Rice, Gillian I" sort="Rice, Gillian I" uniqKey="Rice G" first="Gillian I" last="Rice">Gillian I. Rice</name><affiliation><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Kasher, Paul R" sort="Kasher, Paul R" uniqKey="Kasher P" first="Paul R" last="Kasher">Paul R. Kasher</name><affiliation><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Forte, Gabriella M A" sort="Forte, Gabriella M A" uniqKey="Forte G" first="Gabriella M A" last="Forte">Gabriella M A. Forte</name><affiliation><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Mannion, Niamh M" sort="Mannion, Niamh M" uniqKey="Mannion N" first="Niamh M" last="Mannion">Niamh M. Mannion</name><affiliation><nlm:aff id="A2">Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="Greenwood, Sam M" sort="Greenwood, Sam M" uniqKey="Greenwood S" first="Sam M" last="Greenwood">Sam M. Greenwood</name><affiliation><nlm:aff id="A2">Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="Szynkiewicz, Marcin" sort="Szynkiewicz, Marcin" uniqKey="Szynkiewicz M" first="Marcin" last="Szynkiewicz">Marcin Szynkiewicz</name><affiliation><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Dickerson, Jonathan E" sort="Dickerson, Jonathan E" uniqKey="Dickerson J" first="Jonathan E" last="Dickerson">Jonathan E. Dickerson</name><affiliation><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Bhaskar, Sanjeev S" sort="Bhaskar, Sanjeev S" uniqKey="Bhaskar S" first="Sanjeev S" last="Bhaskar">Sanjeev S. Bhaskar</name><affiliation><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Zampini, Massimiliano" sort="Zampini, Massimiliano" uniqKey="Zampini M" first="Massimiliano" last="Zampini">Massimiliano Zampini</name><affiliation><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Briggs, Tracy A" sort="Briggs, Tracy A" uniqKey="Briggs T" first="Tracy A" last="Briggs">Tracy A. Briggs</name><affiliation><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Jenkinson, Emma M" sort="Jenkinson, Emma M" uniqKey="Jenkinson E" first="Emma M" last="Jenkinson">Emma M. Jenkinson</name><affiliation><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Bacino, Carlos A" sort="Bacino, Carlos A" uniqKey="Bacino C" first="Carlos A" last="Bacino">Carlos A. Bacino</name><affiliation><nlm:aff id="A3">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA</nlm:aff></affiliation></author><author><name sortKey="Battini, Roberta" sort="Battini, Roberta" uniqKey="Battini R" first="Roberta" last="Battini">Roberta Battini</name><affiliation><nlm:aff id="A4">Department of Developmental Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Stella Maris, Pisa, Italy</nlm:aff></affiliation></author><author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><affiliation><nlm:aff id="A5">Laboratory of Molecular Medicine, Department of Neuroscience, Bambino Gesù Children’s Research Hospital, Rome, Italy</nlm:aff></affiliation></author><author><name sortKey="Brogan, Paul A" sort="Brogan, Paul A" uniqKey="Brogan P" first="Paul A" last="Brogan">Paul A. Brogan</name><affiliation><nlm:aff id="A6">University College London (UCL) Institute of Child Health, London, UK</nlm:aff></affiliation></author><author><name sortKey="Brueton, Louise A" sort="Brueton, Louise A" uniqKey="Brueton L" first="Louise A" last="Brueton">Louise A. Brueton</name><affiliation><nlm:aff id="A7">Birmingham Women’s National Health Service (NHS) Foundation Trust, Birmingham, UK</nlm:aff></affiliation></author><author><name sortKey="Carpanelli, Marialuisa" sort="Carpanelli, Marialuisa" uniqKey="Carpanelli M" first="Marialuisa" last="Carpanelli">Marialuisa Carpanelli</name><affiliation><nlm:aff id="A8">Department of Child Neurology and Psychiatry, A Manzoni Hospital, Lecco, Italy</nlm:aff></affiliation></author><author><name sortKey="Laet, Corinne De" sort="Laet, Corinne De" uniqKey="Laet C" first="Corinne De" last="Laet">Corinne De Laet</name><affiliation><nlm:aff id="A9">Nutrition and Metabolism Unit, Hôpital Universitaire des Enfants Reine Fabiola (ULB), Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="De Lonlay, Pascale" sort="De Lonlay, Pascale" uniqKey="De Lonlay P" first="Pascale" last="De Lonlay">Pascale De Lonlay</name><affiliation><nlm:aff id="A10">Reference Center of Metabolic Diseases, Hôpital Necker–Enfants Malades, Paris Descartes University, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Del Toro, Mireia" sort="Del Toro, Mireia" uniqKey="Del Toro M" first="Mireia" last="Del Toro">Mireia Del Toro</name><affiliation><nlm:aff id="A11">Pediatric Neurology Unit, Hospital Vall d’Hebron, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name><affiliation><nlm:aff id="A12">Neuropediatric Unit, Assistance Publique–Hôpitaux de Paris (AP-HP), Paris V Descartes University, Necker Hospital, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Fazzi, Elisa" sort="Fazzi, Elisa" uniqKey="Fazzi E" first="Elisa" last="Fazzi">Elisa Fazzi</name><affiliation><nlm:aff id="A13">Mother and Child Department, Unit of Child Neurology and Psychiatry, Civil Hospital, University of Brescia, Brescia, Italy</nlm:aff></affiliation></author><author><name sortKey="Garcia Cazorla, Angels" sort="Garcia Cazorla, Angels" uniqKey="Garcia Cazorla A" first="Àngels" last="Garcia-Cazorla">Àngels Garcia-Cazorla</name><affiliation><nlm:aff id="A14">Department of Neurology, Hospital Sant Joan de Déu (HSJD), Barcelona, Spain</nlm:aff></affiliation><affiliation><nlm:aff id="A15">El Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), Instituto de Salud Carlos III, Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Heiberg, Arvid" sort="Heiberg, Arvid" uniqKey="Heiberg A" first="Arvid" last="Heiberg">Arvid Heiberg</name><affiliation><nlm:aff id="A16">Department of Medical Genetics, Oslo University Hospital, National Hospital, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Kawaguchi, Masakazu" sort="Kawaguchi, Masakazu" uniqKey="Kawaguchi M" first="Masakazu" last="Kawaguchi">Masakazu Kawaguchi</name><affiliation><nlm:aff id="A17">Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan</nlm:aff></affiliation></author><author><name sortKey="Kumar, Ram" sort="Kumar, Ram" uniqKey="Kumar R" first="Ram" last="Kumar">Ram Kumar</name><affiliation><nlm:aff id="A18">Department of Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK</nlm:aff></affiliation></author><author><name sortKey="Lin, Jean Pierre S M" sort="Lin, Jean Pierre S M" uniqKey="Lin J" first="Jean-Pierre S-M" last="Lin">Jean-Pierre S-M Lin</name><affiliation><nlm:aff id="A19">General Neurology & Complex Motor Disorders Service, Evelina Children’s Hospital, Guy’s & St. Thomas’ NHS Foundation Trust, London, UK</nlm:aff></affiliation></author><author><name sortKey="Lourenco, Charles M" sort="Lourenco, Charles M" uniqKey="Lourenco C" first="Charles M" last="Lourenco">Charles M. Lourenco</name><affiliation><nlm:aff id="A20">Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Male, Alison M" sort="Male, Alison M" uniqKey="Male A" first="Alison M" last="Male">Alison M. Male</name><affiliation><nlm:aff id="A21">North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK</nlm:aff></affiliation></author><author><name sortKey="Marques, Wilson" sort="Marques, Wilson" uniqKey="Marques W" first="Wilson" last="Marques">Wilson Marques</name><affiliation><nlm:aff id="A20">Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation><nlm:aff id="A22">Département de Génétique et Cytogénétique, AP-HP, Groupe Hospitalier Pitié–Salpêtrière, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Centre de Déficience des Déficiences Intellectuelles de Causes Rares, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Olivieri, Ivana" sort="Olivieri, Ivana" uniqKey="Olivieri I" first="Ivana" last="Olivieri">Ivana Olivieri</name><affiliation><nlm:aff id="A25">Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Orcesi, Simona" sort="Orcesi, Simona" uniqKey="Orcesi S" first="Simona" last="Orcesi">Simona Orcesi</name><affiliation><nlm:aff id="A25">Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Prabhakar, Prab" sort="Prabhakar, Prab" uniqKey="Prabhakar P" first="Prab" last="Prabhakar">Prab Prabhakar</name><affiliation><nlm:aff id="A26">Department of Neurology, Great Ormond Street Hospital, London, UK</nlm:aff></affiliation></author><author><name sortKey="Rasmussen, Magnhild" sort="Rasmussen, Magnhild" uniqKey="Rasmussen M" first="Magnhild" last="Rasmussen">Magnhild Rasmussen</name><affiliation><nlm:aff id="A27">Section of Child Neurology, Women and Children’s Division, Oslo University Hospital, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Robinson, Robert A" sort="Robinson, Robert A" uniqKey="Robinson R" first="Robert A" last="Robinson">Robert A. Robinson</name><affiliation><nlm:aff id="A26">Department of Neurology, Great Ormond Street Hospital, London, UK</nlm:aff></affiliation></author><author><name sortKey="Rozenberg, Flore" sort="Rozenberg, Flore" uniqKey="Rozenberg F" first="Flore" last="Rozenberg">Flore Rozenberg</name><affiliation><nlm:aff id="A28">Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Schmidt, Johanna L" sort="Schmidt, Johanna L" uniqKey="Schmidt J" first="Johanna L" last="Schmidt">Johanna L. Schmidt</name><affiliation><nlm:aff id="A29">Department of Neurology, Children’s National Medical Center, Washington, DC, USA</nlm:aff></affiliation></author><author><name sortKey="Steindl, Katharina" sort="Steindl, Katharina" uniqKey="Steindl K" first="Katharina" last="Steindl">Katharina Steindl</name><affiliation><nlm:aff id="A30">Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Tan, Tiong Y" sort="Tan, Tiong Y" uniqKey="Tan T" first="Tiong Y" last="Tan">Tiong Y. Tan</name><affiliation><nlm:aff id="A31">Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Van Der Merwe, William G" sort="Van Der Merwe, William G" uniqKey="Van Der Merwe W" first="William G" last="Van Der Merwe">William G. Van Der Merwe</name><affiliation><nlm:aff id="A32">Paediatric Department, Nobles Hospital, Strang, UK</nlm:aff></affiliation></author><author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><affiliation><nlm:aff id="A29">Department of Neurology, Children’s National Medical Center, Washington, DC, USA</nlm:aff></affiliation></author><author><name sortKey="Vassallo, Grace" sort="Vassallo, Grace" uniqKey="Vassallo G" first="Grace" last="Vassallo">Grace Vassallo</name><affiliation><nlm:aff id="A33">Neurology Department, Royal Manchester Children’s Hospital, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Wakeling, Emma L" sort="Wakeling, Emma L" uniqKey="Wakeling E" first="Emma L" last="Wakeling">Emma L. Wakeling</name><affiliation><nlm:aff id="A34">North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow, UK</nlm:aff></affiliation></author><author><name sortKey="Wassmer, Evangeline" sort="Wassmer, Evangeline" uniqKey="Wassmer E" first="Evangeline" last="Wassmer">Evangeline Wassmer</name><affiliation><nlm:aff id="A35">Neurology Department, Birmingham Children’s Hospital, Birmingham, UK</nlm:aff></affiliation></author><author><name sortKey="Whittaker, Elizabeth" sort="Whittaker, Elizabeth" uniqKey="Whittaker E" first="Elizabeth" last="Whittaker">Elizabeth Whittaker</name><affiliation><nlm:aff id="A36">Academic Department of Paediatrics, Imperial College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Livingston, John H" sort="Livingston, John H" uniqKey="Livingston J" first="John H" last="Livingston">John H. Livingston</name><affiliation><nlm:aff id="A37">Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Lebon, Pierre" sort="Lebon, Pierre" uniqKey="Lebon P" first="Pierre" last="Lebon">Pierre Lebon</name><affiliation><nlm:aff id="A28">Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Suzuki, Tamio" sort="Suzuki, Tamio" uniqKey="Suzuki T" first="Tamio" last="Suzuki">Tamio Suzuki</name><affiliation><nlm:aff id="A17">Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan</nlm:aff></affiliation></author><author><name sortKey="Mclaughlin, Paul J" sort="Mclaughlin, Paul J" uniqKey="Mclaughlin P" first="Paul J" last="Mclaughlin">Paul J. Mclaughlin</name><affiliation><nlm:aff id="A38">Institute of Structural and Molecular Biology, School of Biological Sciences, The University of Edinburgh, Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="Keegan, Liam P" sort="Keegan, Liam P" uniqKey="Keegan L" first="Liam P" last="Keegan">Liam P. Keegan</name><affiliation><nlm:aff id="A2">Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="O Onnell, Mary A" sort="O Onnell, Mary A" uniqKey="O Onnell M" first="Mary A" last="O Onnell">Mary A. O Onnell</name><affiliation><nlm:aff id="A2">Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="Lovell, Simon C" sort="Lovell, Simon C" uniqKey="Lovell S" first="Simon C" last="Lovell">Simon C. Lovell</name><affiliation><nlm:aff id="A39">Faculty of Life Sciences, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J" last="Crow">Yanick J. Crow</name><affiliation><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23001123</idno><idno type="pmc">4154508</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154508</idno><idno type="RBID">PMC:4154508</idno><idno type="doi">10.1038/ng.2414</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">002136</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002136</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in <italic>ADAR1</italic> cause Aicardi-Goutières syndrome associated with a type I interferon signature</title><author><name sortKey="Rice, Gillian I" sort="Rice, Gillian I" uniqKey="Rice G" first="Gillian I" last="Rice">Gillian I. Rice</name><affiliation><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Kasher, Paul R" sort="Kasher, Paul R" uniqKey="Kasher P" first="Paul R" last="Kasher">Paul R. Kasher</name><affiliation><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Forte, Gabriella M A" sort="Forte, Gabriella M A" uniqKey="Forte G" first="Gabriella M A" last="Forte">Gabriella M A. Forte</name><affiliation><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Mannion, Niamh M" sort="Mannion, Niamh M" uniqKey="Mannion N" first="Niamh M" last="Mannion">Niamh M. Mannion</name><affiliation><nlm:aff id="A2">Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="Greenwood, Sam M" sort="Greenwood, Sam M" uniqKey="Greenwood S" first="Sam M" last="Greenwood">Sam M. Greenwood</name><affiliation><nlm:aff id="A2">Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="Szynkiewicz, Marcin" sort="Szynkiewicz, Marcin" uniqKey="Szynkiewicz M" first="Marcin" last="Szynkiewicz">Marcin Szynkiewicz</name><affiliation><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Dickerson, Jonathan E" sort="Dickerson, Jonathan E" uniqKey="Dickerson J" first="Jonathan E" last="Dickerson">Jonathan E. Dickerson</name><affiliation><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Bhaskar, Sanjeev S" sort="Bhaskar, Sanjeev S" uniqKey="Bhaskar S" first="Sanjeev S" last="Bhaskar">Sanjeev S. Bhaskar</name><affiliation><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Zampini, Massimiliano" sort="Zampini, Massimiliano" uniqKey="Zampini M" first="Massimiliano" last="Zampini">Massimiliano Zampini</name><affiliation><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Briggs, Tracy A" sort="Briggs, Tracy A" uniqKey="Briggs T" first="Tracy A" last="Briggs">Tracy A. Briggs</name><affiliation><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Jenkinson, Emma M" sort="Jenkinson, Emma M" uniqKey="Jenkinson E" first="Emma M" last="Jenkinson">Emma M. Jenkinson</name><affiliation><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Bacino, Carlos A" sort="Bacino, Carlos A" uniqKey="Bacino C" first="Carlos A" last="Bacino">Carlos A. Bacino</name><affiliation><nlm:aff id="A3">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA</nlm:aff></affiliation></author><author><name sortKey="Battini, Roberta" sort="Battini, Roberta" uniqKey="Battini R" first="Roberta" last="Battini">Roberta Battini</name><affiliation><nlm:aff id="A4">Department of Developmental Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Stella Maris, Pisa, Italy</nlm:aff></affiliation></author><author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><affiliation><nlm:aff id="A5">Laboratory of Molecular Medicine, Department of Neuroscience, Bambino Gesù Children’s Research Hospital, Rome, Italy</nlm:aff></affiliation></author><author><name sortKey="Brogan, Paul A" sort="Brogan, Paul A" uniqKey="Brogan P" first="Paul A" last="Brogan">Paul A. Brogan</name><affiliation><nlm:aff id="A6">University College London (UCL) Institute of Child Health, London, UK</nlm:aff></affiliation></author><author><name sortKey="Brueton, Louise A" sort="Brueton, Louise A" uniqKey="Brueton L" first="Louise A" last="Brueton">Louise A. Brueton</name><affiliation><nlm:aff id="A7">Birmingham Women’s National Health Service (NHS) Foundation Trust, Birmingham, UK</nlm:aff></affiliation></author><author><name sortKey="Carpanelli, Marialuisa" sort="Carpanelli, Marialuisa" uniqKey="Carpanelli M" first="Marialuisa" last="Carpanelli">Marialuisa Carpanelli</name><affiliation><nlm:aff id="A8">Department of Child Neurology and Psychiatry, A Manzoni Hospital, Lecco, Italy</nlm:aff></affiliation></author><author><name sortKey="Laet, Corinne De" sort="Laet, Corinne De" uniqKey="Laet C" first="Corinne De" last="Laet">Corinne De Laet</name><affiliation><nlm:aff id="A9">Nutrition and Metabolism Unit, Hôpital Universitaire des Enfants Reine Fabiola (ULB), Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="De Lonlay, Pascale" sort="De Lonlay, Pascale" uniqKey="De Lonlay P" first="Pascale" last="De Lonlay">Pascale De Lonlay</name><affiliation><nlm:aff id="A10">Reference Center of Metabolic Diseases, Hôpital Necker–Enfants Malades, Paris Descartes University, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Del Toro, Mireia" sort="Del Toro, Mireia" uniqKey="Del Toro M" first="Mireia" last="Del Toro">Mireia Del Toro</name><affiliation><nlm:aff id="A11">Pediatric Neurology Unit, Hospital Vall d’Hebron, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name><affiliation><nlm:aff id="A12">Neuropediatric Unit, Assistance Publique–Hôpitaux de Paris (AP-HP), Paris V Descartes University, Necker Hospital, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Fazzi, Elisa" sort="Fazzi, Elisa" uniqKey="Fazzi E" first="Elisa" last="Fazzi">Elisa Fazzi</name><affiliation><nlm:aff id="A13">Mother and Child Department, Unit of Child Neurology and Psychiatry, Civil Hospital, University of Brescia, Brescia, Italy</nlm:aff></affiliation></author><author><name sortKey="Garcia Cazorla, Angels" sort="Garcia Cazorla, Angels" uniqKey="Garcia Cazorla A" first="Àngels" last="Garcia-Cazorla">Àngels Garcia-Cazorla</name><affiliation><nlm:aff id="A14">Department of Neurology, Hospital Sant Joan de Déu (HSJD), Barcelona, Spain</nlm:aff></affiliation><affiliation><nlm:aff id="A15">El Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), Instituto de Salud Carlos III, Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Heiberg, Arvid" sort="Heiberg, Arvid" uniqKey="Heiberg A" first="Arvid" last="Heiberg">Arvid Heiberg</name><affiliation><nlm:aff id="A16">Department of Medical Genetics, Oslo University Hospital, National Hospital, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Kawaguchi, Masakazu" sort="Kawaguchi, Masakazu" uniqKey="Kawaguchi M" first="Masakazu" last="Kawaguchi">Masakazu Kawaguchi</name><affiliation><nlm:aff id="A17">Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan</nlm:aff></affiliation></author><author><name sortKey="Kumar, Ram" sort="Kumar, Ram" uniqKey="Kumar R" first="Ram" last="Kumar">Ram Kumar</name><affiliation><nlm:aff id="A18">Department of Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK</nlm:aff></affiliation></author><author><name sortKey="Lin, Jean Pierre S M" sort="Lin, Jean Pierre S M" uniqKey="Lin J" first="Jean-Pierre S-M" last="Lin">Jean-Pierre S-M Lin</name><affiliation><nlm:aff id="A19">General Neurology & Complex Motor Disorders Service, Evelina Children’s Hospital, Guy’s & St. Thomas’ NHS Foundation Trust, London, UK</nlm:aff></affiliation></author><author><name sortKey="Lourenco, Charles M" sort="Lourenco, Charles M" uniqKey="Lourenco C" first="Charles M" last="Lourenco">Charles M. Lourenco</name><affiliation><nlm:aff id="A20">Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Male, Alison M" sort="Male, Alison M" uniqKey="Male A" first="Alison M" last="Male">Alison M. Male</name><affiliation><nlm:aff id="A21">North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK</nlm:aff></affiliation></author><author><name sortKey="Marques, Wilson" sort="Marques, Wilson" uniqKey="Marques W" first="Wilson" last="Marques">Wilson Marques</name><affiliation><nlm:aff id="A20">Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation><nlm:aff id="A22">Département de Génétique et Cytogénétique, AP-HP, Groupe Hospitalier Pitié–Salpêtrière, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Centre de Déficience des Déficiences Intellectuelles de Causes Rares, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Olivieri, Ivana" sort="Olivieri, Ivana" uniqKey="Olivieri I" first="Ivana" last="Olivieri">Ivana Olivieri</name><affiliation><nlm:aff id="A25">Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Orcesi, Simona" sort="Orcesi, Simona" uniqKey="Orcesi S" first="Simona" last="Orcesi">Simona Orcesi</name><affiliation><nlm:aff id="A25">Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Prabhakar, Prab" sort="Prabhakar, Prab" uniqKey="Prabhakar P" first="Prab" last="Prabhakar">Prab Prabhakar</name><affiliation><nlm:aff id="A26">Department of Neurology, Great Ormond Street Hospital, London, UK</nlm:aff></affiliation></author><author><name sortKey="Rasmussen, Magnhild" sort="Rasmussen, Magnhild" uniqKey="Rasmussen M" first="Magnhild" last="Rasmussen">Magnhild Rasmussen</name><affiliation><nlm:aff id="A27">Section of Child Neurology, Women and Children’s Division, Oslo University Hospital, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Robinson, Robert A" sort="Robinson, Robert A" uniqKey="Robinson R" first="Robert A" last="Robinson">Robert A. Robinson</name><affiliation><nlm:aff id="A26">Department of Neurology, Great Ormond Street Hospital, London, UK</nlm:aff></affiliation></author><author><name sortKey="Rozenberg, Flore" sort="Rozenberg, Flore" uniqKey="Rozenberg F" first="Flore" last="Rozenberg">Flore Rozenberg</name><affiliation><nlm:aff id="A28">Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Schmidt, Johanna L" sort="Schmidt, Johanna L" uniqKey="Schmidt J" first="Johanna L" last="Schmidt">Johanna L. Schmidt</name><affiliation><nlm:aff id="A29">Department of Neurology, Children’s National Medical Center, Washington, DC, USA</nlm:aff></affiliation></author><author><name sortKey="Steindl, Katharina" sort="Steindl, Katharina" uniqKey="Steindl K" first="Katharina" last="Steindl">Katharina Steindl</name><affiliation><nlm:aff id="A30">Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Tan, Tiong Y" sort="Tan, Tiong Y" uniqKey="Tan T" first="Tiong Y" last="Tan">Tiong Y. Tan</name><affiliation><nlm:aff id="A31">Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Van Der Merwe, William G" sort="Van Der Merwe, William G" uniqKey="Van Der Merwe W" first="William G" last="Van Der Merwe">William G. Van Der Merwe</name><affiliation><nlm:aff id="A32">Paediatric Department, Nobles Hospital, Strang, UK</nlm:aff></affiliation></author><author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><affiliation><nlm:aff id="A29">Department of Neurology, Children’s National Medical Center, Washington, DC, USA</nlm:aff></affiliation></author><author><name sortKey="Vassallo, Grace" sort="Vassallo, Grace" uniqKey="Vassallo G" first="Grace" last="Vassallo">Grace Vassallo</name><affiliation><nlm:aff id="A33">Neurology Department, Royal Manchester Children’s Hospital, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Wakeling, Emma L" sort="Wakeling, Emma L" uniqKey="Wakeling E" first="Emma L" last="Wakeling">Emma L. Wakeling</name><affiliation><nlm:aff id="A34">North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow, UK</nlm:aff></affiliation></author><author><name sortKey="Wassmer, Evangeline" sort="Wassmer, Evangeline" uniqKey="Wassmer E" first="Evangeline" last="Wassmer">Evangeline Wassmer</name><affiliation><nlm:aff id="A35">Neurology Department, Birmingham Children’s Hospital, Birmingham, UK</nlm:aff></affiliation></author><author><name sortKey="Whittaker, Elizabeth" sort="Whittaker, Elizabeth" uniqKey="Whittaker E" first="Elizabeth" last="Whittaker">Elizabeth Whittaker</name><affiliation><nlm:aff id="A36">Academic Department of Paediatrics, Imperial College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Livingston, John H" sort="Livingston, John H" uniqKey="Livingston J" first="John H" last="Livingston">John H. Livingston</name><affiliation><nlm:aff id="A37">Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Lebon, Pierre" sort="Lebon, Pierre" uniqKey="Lebon P" first="Pierre" last="Lebon">Pierre Lebon</name><affiliation><nlm:aff id="A28">Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Suzuki, Tamio" sort="Suzuki, Tamio" uniqKey="Suzuki T" first="Tamio" last="Suzuki">Tamio Suzuki</name><affiliation><nlm:aff id="A17">Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan</nlm:aff></affiliation></author><author><name sortKey="Mclaughlin, Paul J" sort="Mclaughlin, Paul J" uniqKey="Mclaughlin P" first="Paul J" last="Mclaughlin">Paul J. Mclaughlin</name><affiliation><nlm:aff id="A38">Institute of Structural and Molecular Biology, School of Biological Sciences, The University of Edinburgh, Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="Keegan, Liam P" sort="Keegan, Liam P" uniqKey="Keegan L" first="Liam P" last="Keegan">Liam P. Keegan</name><affiliation><nlm:aff id="A2">Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="O Onnell, Mary A" sort="O Onnell, Mary A" uniqKey="O Onnell M" first="Mary A" last="O Onnell">Mary A. O Onnell</name><affiliation><nlm:aff id="A2">Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="Lovell, Simon C" sort="Lovell, Simon C" uniqKey="Lovell S" first="Simon C" last="Lovell">Simon C. Lovell</name><affiliation><nlm:aff id="A39">Faculty of Life Sciences, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J" last="Crow">Yanick J. Crow</name><affiliation><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="ISSN">1061-4036</idno><idno type="eISSN">1546-1718</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Adenosine deaminases acting on RNA (ADARs) catalyze the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) and thereby potentially alter the information content and structure of cellular RNAs. Notably, although the overwhelming majority of such editing events occur in transcripts derived from Alu repeat elements, the biological function of non-coding RNA editing remains uncertain. Here, we show that mutations in <italic>ADAR1</italic> (also known as <italic>ADAR</italic>) cause the autoimmune disorder Aicardi-Goutières syndrome (AGS). As in <italic>Adar1</italic>-null mice, the human disease state is associated with upregulation of interferon-stimulated genes, indicating a possible role for ADAR1 as a suppressor of type I interferon signaling. Considering recent insights derived from the study of other AGS-related proteins, we speculate that ADAR1 may limit the cytoplasmic accumulation of the dsRNA generated from genomic repetitive elements.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9216904</journal-id><journal-id journal-id-type="pubmed-jr-id">2419</journal-id><journal-id journal-id-type="nlm-ta">Nat Genet</journal-id><journal-id journal-id-type="iso-abbrev">Nat. Genet.</journal-id><journal-title-group><journal-title>Nature genetics</journal-title></journal-title-group><issn pub-type="ppub">1061-4036</issn><issn pub-type="epub">1546-1718</issn></journal-meta><article-meta><article-id pub-id-type="pmid">23001123</article-id><article-id pub-id-type="pmc">4154508</article-id><article-id pub-id-type="doi">10.1038/ng.2414</article-id><article-id pub-id-type="manuscript">NIHMS624328</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Mutations in <italic>ADAR1</italic> cause Aicardi-Goutières syndrome associated with a type I interferon signature</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Rice</surname><given-names>Gillian I</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Kasher</surname><given-names>Paul R</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Forte</surname><given-names>Gabriella M A</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Mannion</surname><given-names>Niamh M</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Greenwood</surname><given-names>Sam M</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Szynkiewicz</surname><given-names>Marcin</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Dickerson</surname><given-names>Jonathan E</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Bhaskar</surname><given-names>Sanjeev S</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Zampini</surname><given-names>Massimiliano</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Briggs</surname><given-names>Tracy A</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Jenkinson</surname><given-names>Emma M</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Bacino</surname><given-names>Carlos A</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Battini</surname><given-names>Roberta</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Bertini</surname><given-names>Enrico</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Brogan</surname><given-names>Paul A</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Brueton</surname><given-names>Louise A</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Carpanelli</surname><given-names>Marialuisa</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Laet</surname><given-names>Corinne De</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>de Lonlay</surname><given-names>Pascale</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>del Toro</surname><given-names>Mireia</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Desguerre</surname><given-names>Isabelle</given-names></name><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Fazzi</surname><given-names>Elisa</given-names></name><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Garcia-Cazorla</surname><given-names>Àngels</given-names></name><xref ref-type="aff" rid="A14">14</xref><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Heiberg</surname><given-names>Arvid</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Kawaguchi</surname><given-names>Masakazu</given-names></name><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Kumar</surname><given-names>Ram</given-names></name><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Lin</surname><given-names>Jean-Pierre S-M</given-names></name><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Lourenco</surname><given-names>Charles M</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Male</surname><given-names>Alison M</given-names></name><xref ref-type="aff" rid="A21">21</xref></contrib><contrib contrib-type="author"><name><surname>Marques</surname><given-names>Wilson</given-names><suffix>Jr</suffix></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Mignot</surname><given-names>Cyril</given-names></name><xref ref-type="aff" rid="A22">22</xref><xref ref-type="aff" rid="A24">24</xref></contrib><contrib contrib-type="author"><name><surname>Olivieri</surname><given-names>Ivana</given-names></name><xref ref-type="aff" rid="A25">25</xref></contrib><contrib contrib-type="author"><name><surname>Orcesi</surname><given-names>Simona</given-names></name><xref ref-type="aff" rid="A25">25</xref></contrib><contrib contrib-type="author"><name><surname>Prabhakar</surname><given-names>Prab</given-names></name><xref ref-type="aff" rid="A26">26</xref></contrib><contrib contrib-type="author"><name><surname>Rasmussen</surname><given-names>Magnhild</given-names></name><xref ref-type="aff" rid="A27">27</xref></contrib><contrib contrib-type="author"><name><surname>Robinson</surname><given-names>Robert A</given-names></name><xref ref-type="aff" rid="A26">26</xref></contrib><contrib contrib-type="author"><name><surname>Rozenberg</surname><given-names>Flore</given-names></name><xref ref-type="aff" rid="A28">28</xref></contrib><contrib contrib-type="author"><name><surname>Schmidt</surname><given-names>Johanna L</given-names></name><xref ref-type="aff" rid="A29">29</xref></contrib><contrib contrib-type="author"><name><surname>Steindl</surname><given-names>Katharina</given-names></name><xref ref-type="aff" rid="A30">30</xref></contrib><contrib contrib-type="author"><name><surname>Tan</surname><given-names>Tiong Y</given-names></name><xref ref-type="aff" rid="A31">31</xref></contrib><contrib contrib-type="author"><name><surname>van der Merwe</surname><given-names>William G</given-names></name><xref ref-type="aff" rid="A32">32</xref></contrib><contrib contrib-type="author"><name><surname>Vanderver</surname><given-names>Adeline</given-names></name><xref ref-type="aff" rid="A29">29</xref></contrib><contrib contrib-type="author"><name><surname>Vassallo</surname><given-names>Grace</given-names></name><xref ref-type="aff" rid="A33">33</xref></contrib><contrib contrib-type="author"><name><surname>Wakeling</surname><given-names>Emma L</given-names></name><xref ref-type="aff" rid="A34">34</xref></contrib><contrib contrib-type="author"><name><surname>Wassmer</surname><given-names>Evangeline</given-names></name><xref ref-type="aff" rid="A35">35</xref></contrib><contrib contrib-type="author"><name><surname>Whittaker</surname><given-names>Elizabeth</given-names></name><xref ref-type="aff" rid="A36">36</xref></contrib><contrib contrib-type="author"><name><surname>Livingston</surname><given-names>John H</given-names></name><xref ref-type="aff" rid="A37">37</xref></contrib><contrib contrib-type="author"><name><surname>Lebon</surname><given-names>Pierre</given-names></name><xref ref-type="aff" rid="A28">28</xref></contrib><contrib contrib-type="author"><name><surname>Suzuki</surname><given-names>Tamio</given-names></name><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>McLaughlin</surname><given-names>Paul J</given-names></name><xref ref-type="aff" rid="A38">38</xref></contrib><contrib contrib-type="author"><name><surname>Keegan</surname><given-names>Liam P</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>O’Connell</surname><given-names>Mary A</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Lovell</surname><given-names>Simon C</given-names></name><xref ref-type="aff" rid="A39">39</xref></contrib><contrib contrib-type="author"><name><surname>Crow</surname><given-names>Yanick J</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib></contrib-group><aff id="A1"><label>1</label>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</aff><aff id="A2"><label>2</label>Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK</aff><aff id="A3"><label>3</label>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA</aff><aff id="A4"><label>4</label>Department of Developmental Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Stella Maris, Pisa, Italy</aff><aff id="A5"><label>5</label>Laboratory of Molecular Medicine, Department of Neuroscience, Bambino Gesù Children’s Research Hospital, Rome, Italy</aff><aff id="A6"><label>6</label>University College London (UCL) Institute of Child Health, London, UK</aff><aff id="A7"><label>7</label>Birmingham Women’s National Health Service (NHS) Foundation Trust, Birmingham, UK</aff><aff id="A8"><label>8</label>Department of Child Neurology and Psychiatry, A Manzoni Hospital, Lecco, Italy</aff><aff id="A9"><label>9</label>Nutrition and Metabolism Unit, Hôpital Universitaire des Enfants Reine Fabiola (ULB), Brussels, Belgium</aff><aff id="A10"><label>10</label>Reference Center of Metabolic Diseases, Hôpital Necker–Enfants Malades, Paris Descartes University, Paris, France</aff><aff id="A11"><label>11</label>Pediatric Neurology Unit, Hospital Vall d’Hebron, Barcelona, Spain</aff><aff id="A12"><label>12</label>Neuropediatric Unit, Assistance Publique–Hôpitaux de Paris (AP-HP), Paris V Descartes University, Necker Hospital, Paris, France</aff><aff id="A13"><label>13</label>Mother and Child Department, Unit of Child Neurology and Psychiatry, Civil Hospital, University of Brescia, Brescia, Italy</aff><aff id="A14"><label>14</label>Department of Neurology, Hospital Sant Joan de Déu (HSJD), Barcelona, Spain</aff><aff id="A15"><label>15</label>El Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), Instituto de Salud Carlos III, Madrid, Spain</aff><aff id="A16"><label>16</label>Department of Medical Genetics, Oslo University Hospital, National Hospital, Oslo, Norway</aff><aff id="A17"><label>17</label>Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan</aff><aff id="A18"><label>18</label>Department of Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK</aff><aff id="A19"><label>19</label>General Neurology & Complex Motor Disorders Service, Evelina Children’s Hospital, Guy’s & St. Thomas’ NHS Foundation Trust, London, UK</aff><aff id="A20"><label>20</label>Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil</aff><aff id="A21"><label>21</label>North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK</aff><aff id="A22"><label>22</label>Département de Génétique et Cytogénétique, AP-HP, Groupe Hospitalier Pitié–Salpêtrière, Paris, France</aff><aff id="A23"><label>23</label>Service de Neuropédiatrie, AP-HP, Hopital Armand Trousseau, Paris, France</aff><aff id="A24"><label>24</label>Centre de Déficience des Déficiences Intellectuelles de Causes Rares, Paris, France</aff><aff id="A25"><label>25</label>Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia, Italy</aff><aff id="A26"><label>26</label>Department of Neurology, Great Ormond Street Hospital, London, UK</aff><aff id="A27"><label>27</label>Section of Child Neurology, Women and Children’s Division, Oslo University Hospital, Oslo, Norway</aff><aff id="A28"><label>28</label>Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris, France</aff><aff id="A29"><label>29</label>Department of Neurology, Children’s National Medical Center, Washington, DC, USA</aff><aff id="A30"><label>30</label>Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland</aff><aff id="A31"><label>31</label>Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria, Australia</aff><aff id="A32"><label>32</label>Paediatric Department, Nobles Hospital, Strang, UK</aff><aff id="A33"><label>33</label>Neurology Department, Royal Manchester Children’s Hospital, Manchester, UK</aff><aff id="A34"><label>34</label>North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow, UK</aff><aff id="A35"><label>35</label>Neurology Department, Birmingham Children’s Hospital, Birmingham, UK</aff><aff id="A36"><label>36</label>Academic Department of Paediatrics, Imperial College London, London, UK</aff><aff id="A37"><label>37</label>Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK</aff><aff id="A38"><label>38</label>Institute of Structural and Molecular Biology, School of Biological Sciences, The University of Edinburgh, Edinburgh, UK</aff><aff id="A39"><label>39</label>Faculty of Life Sciences, University of Manchester, Manchester, UK</aff><author-notes><corresp id="CR1">Correspondence should be addressed to Y.J.C. (<email>yanickcrow@mac.com</email>)</corresp></author-notes><pub-date pub-type="nihms-submitted"><day>29</day><month>8</month><year>2014</year></pub-date><pub-date pub-type="epub"><day>23</day><month>9</month><year>2012</year></pub-date><pub-date pub-type="ppub"><month>11</month><year>2012</year></pub-date><pub-date pub-type="pmc-release"><day>04</day><month>9</month><year>2014</year></pub-date><volume>44</volume><issue>11</issue><fpage>1243</fpage><lpage>1248</lpage><pmc-comment>elocation-id from pubmed: 10.1038/ng.2414</pmc-comment>
<permissions><copyright-statement>© 2012 Nature America, Inc. All rights reserved</copyright-statement><copyright-year>2012</copyright-year></permissions><abstract><p id="P1">Adenosine deaminases acting on RNA (ADARs) catalyze the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) and thereby potentially alter the information content and structure of cellular RNAs. Notably, although the overwhelming majority of such editing events occur in transcripts derived from Alu repeat elements, the biological function of non-coding RNA editing remains uncertain. Here, we show that mutations in <italic>ADAR1</italic> (also known as <italic>ADAR</italic>) cause the autoimmune disorder Aicardi-Goutières syndrome (AGS). As in <italic>Adar1</italic>-null mice, the human disease state is associated with upregulation of interferon-stimulated genes, indicating a possible role for ADAR1 as a suppressor of type I interferon signaling. Considering recent insights derived from the study of other AGS-related proteins, we speculate that ADAR1 may limit the cytoplasmic accumulation of the dsRNA generated from genomic repetitive elements.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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