Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
Identifieur interne : 005309 ( Main/Exploration ); précédent : 005308; suivant : 005310Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
Auteurs : Gillian I. Rice [Royaume-Uni] ; Paul R. Kasher [Royaume-Uni] ; Gabriella M A. Forte [Royaume-Uni] ; Niamh M. Mannion [Royaume-Uni] ; Sam M. Greenwood [Royaume-Uni] ; Marcin Szynkiewicz [Royaume-Uni] ; Jonathan E. Dickerson [Royaume-Uni] ; Sanjeev S. Bhaskar [Royaume-Uni] ; Massimiliano Zampini [Royaume-Uni] ; Tracy A. Briggs [Royaume-Uni] ; Emma M. Jenkinson [Royaume-Uni] ; Carlos A. Bacino [États-Unis] ; Roberta Battini [Italie] ; Enrico Bertini [Italie] ; Paul A. Brogan [Royaume-Uni] ; Louise A. Brueton [Royaume-Uni] ; Marialuisa Carpanelli [Italie] ; Corinne De Laet [Belgique] ; Pascale De Lonlay [France] ; Mireia Del Toro [Espagne] ; Isabelle Desguerre [France] ; Elisa Fazzi [Italie] ; Àngels Garcia-Cazorla [Espagne] ; Arvid Heiberg [Norvège] ; Masakazu Kawaguchi [Japon] ; Ram Kumar [Royaume-Uni] ; Jean-Pierre S-M Lin [Royaume-Uni] ; Charles M. Lourenco [Brésil] ; Alison M. Male [Royaume-Uni] ; Wilson Marques [Brésil] ; Cyril Mignot [France] ; Ivana Olivieri [Italie] ; Simona Orcesi [Italie] ; Prab Prabhakar [Royaume-Uni] ; Magnhild Rasmussen [Norvège] ; Robert A. Robinson [Royaume-Uni] ; Flore Rozenberg [France] ; Johanna L. Schmidt [États-Unis] ; Katharina Steindl [Suisse] ; Tiong Y. Tan [Australie] ; William G. Van Der Merwe [Royaume-Uni] ; Adeline Vanderver [États-Unis] ; Grace Vassallo [Royaume-Uni] ; Emma L. Wakeling [Royaume-Uni] ; Evangeline Wassmer [Royaume-Uni] ; Elizabeth Whittaker [Royaume-Uni] ; John H. Livingston [Royaume-Uni] ; Pierre Lebon [France] ; Tamio Suzuki [Japon] ; Paul J. Mclaughlin [Royaume-Uni] ; Liam P. Keegan [Royaume-Uni] ; Mary A. O Onnell [Royaume-Uni] ; Simon C. Lovell [Royaume-Uni] ; Yanick J. Crow [Royaume-Uni]Source :
- Nature genetics [ 1061-4036 ] ; 2012.
Abstract
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
Url:
DOI: 10.1038/ng.2414
PubMed: 23001123
PubMed Central: 4154508
Affiliations:
- Australie, Belgique, Brésil, Espagne, France, Italie, Japon, Norvège, Royaume-Uni, Suisse, États-Unis
- Angleterre, Canton de Zurich, Catalogne, Communauté de Madrid, District de Columbia, Grand Londres, Grand Manchester, Latium, Midlands de l'Ouest, Région de Bruxelles-Capitale, Texas, Toscane, Écosse, État de São Paulo, Île-de-France, Østlandet
- Barcelone, Birmingham, Bruxelles, Londres, Madrid, Manchester, Oslo, Paris, Pise, Rome, São Paulo, Zurich, Édimbourg
- University College de Londres, Université d'Édimbourg, Université de Manchester, Université de São Paulo, Université de Zurich
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 002136
- to stream Pmc, to step Curation: 001F89
- to stream Pmc, to step Checkpoint: 001E40
- to stream Ncbi, to step Merge: 000F85
- to stream Ncbi, to step Curation: 000F85
- to stream Ncbi, to step Checkpoint: 000F85
- to stream Main, to step Merge: 005527
- to stream Main, to step Curation: 005309
Le document en format XML
<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 wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></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 wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></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 wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></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 wicri:level="4"><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><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh</wicri:regionArea><placeName><settlement type="city">Édimbourg</settlement><region type="country">Écosse</region><settlement type="city">Édimbourg</settlement></placeName><orgName type="university">Université d'Édimbourg</orgName></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 wicri:level="4"><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><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh</wicri:regionArea><placeName><settlement type="city">Édimbourg</settlement><region type="country">Écosse</region><settlement type="city">Édimbourg</settlement></placeName><orgName type="university">Université d'Édimbourg</orgName></affiliation></author><author><name sortKey="Szynkiewicz, Marcin" sort="Szynkiewicz, Marcin" uniqKey="Szynkiewicz M" first="Marcin" last="Szynkiewicz">Marcin Szynkiewicz</name><affiliation wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></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 wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></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 wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Zampini, Massimiliano" sort="Zampini, Massimiliano" uniqKey="Zampini M" first="Massimiliano" last="Zampini">Massimiliano Zampini</name><affiliation wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></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 wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></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 wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></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 wicri:level="2"><nlm:aff id="A3">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Battini, Roberta" sort="Battini, Roberta" uniqKey="Battini R" first="Roberta" last="Battini">Roberta Battini</name><affiliation wicri:level="3"><nlm:aff id="A4">Department of Developmental Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Stella Maris, Pisa, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Developmental Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Stella Maris, Pisa</wicri:regionArea><placeName><settlement type="city">Pise</settlement><region nuts="2">Toscane</region></placeName></affiliation></author><author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><affiliation wicri:level="3"><nlm:aff id="A5">Laboratory of Molecular Medicine, Department of Neuroscience, Bambino Gesù Children’s Research Hospital, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory of Molecular Medicine, Department of Neuroscience, Bambino Gesù Children’s Research Hospital, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></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 wicri:level="4"><nlm:aff id="A6">University College London (UCL) Institute of Child Health, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University College London (UCL) Institute of Child Health, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></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 wicri:level="3"><nlm:aff id="A7">Birmingham Women’s National Health Service (NHS) Foundation Trust, Birmingham, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Birmingham Women’s National Health Service (NHS) Foundation Trust, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Carpanelli, Marialuisa" sort="Carpanelli, Marialuisa" uniqKey="Carpanelli M" first="Marialuisa" last="Carpanelli">Marialuisa Carpanelli</name><affiliation wicri:level="1"><nlm:aff id="A8">Department of Child Neurology and Psychiatry, A Manzoni Hospital, Lecco, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Child Neurology and Psychiatry, A Manzoni Hospital, Lecco</wicri:regionArea><wicri:noRegion>Lecco</wicri:noRegion></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 wicri:level="3"><nlm:aff id="A9">Nutrition and Metabolism Unit, Hôpital Universitaire des Enfants Reine Fabiola (ULB), Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Nutrition and Metabolism Unit, Hôpital Universitaire des Enfants Reine Fabiola (ULB), Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></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 wicri:level="3"><nlm:aff id="A10">Reference Center of Metabolic Diseases, Hôpital Necker–Enfants Malades, Paris Descartes University, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Reference Center of Metabolic Diseases, Hôpital Necker–Enfants Malades, Paris Descartes University, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></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 wicri:level="3"><nlm:aff id="A11">Pediatric Neurology Unit, Hospital Vall d’Hebron, Barcelona, Spain</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Pediatric Neurology Unit, Hospital Vall d’Hebron, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name><affiliation wicri:level="3"><nlm:aff id="A12">Neuropediatric Unit, Assistance Publique–Hôpitaux de Paris (AP-HP), Paris V Descartes University, Necker Hospital, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Neuropediatric Unit, Assistance Publique–Hôpitaux de Paris (AP-HP), Paris V Descartes University, Necker Hospital, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Fazzi, Elisa" sort="Fazzi, Elisa" uniqKey="Fazzi E" first="Elisa" last="Fazzi">Elisa Fazzi</name><affiliation wicri:level="1"><nlm:aff id="A13">Mother and Child Department, Unit of Child Neurology and Psychiatry, Civil Hospital, University of Brescia, Brescia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Mother and Child Department, Unit of Child Neurology and Psychiatry, Civil Hospital, University of Brescia, Brescia</wicri:regionArea><wicri:noRegion>Brescia</wicri:noRegion></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 wicri:level="3"><nlm:aff id="A14">Department of Neurology, Hospital Sant Joan de Déu (HSJD), Barcelona, Spain</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Neurology, Hospital Sant Joan de Déu (HSJD), Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation><affiliation wicri:level="3"><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><country xml:lang="fr">Espagne</country><wicri:regionArea>El Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), Instituto de Salud Carlos III, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Heiberg, Arvid" sort="Heiberg, Arvid" uniqKey="Heiberg A" first="Arvid" last="Heiberg">Arvid Heiberg</name><affiliation wicri:level="3"><nlm:aff id="A16">Department of Medical Genetics, Oslo University Hospital, National Hospital, Oslo, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Medical Genetics, Oslo University Hospital, National Hospital, Oslo</wicri:regionArea><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName></affiliation></author><author><name sortKey="Kawaguchi, Masakazu" sort="Kawaguchi, Masakazu" uniqKey="Kawaguchi M" first="Masakazu" last="Kawaguchi">Masakazu Kawaguchi</name><affiliation wicri:level="1"><nlm:aff id="A17">Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata</wicri:regionArea><wicri:noRegion>Yamagata</wicri:noRegion></affiliation></author><author><name sortKey="Kumar, Ram" sort="Kumar, Ram" uniqKey="Kumar R" first="Ram" last="Kumar">Ram Kumar</name><affiliation wicri:level="1"><nlm:aff id="A18">Department of Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool</wicri:regionArea><wicri:noRegion>Liverpool</wicri:noRegion></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 wicri:level="3"><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><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>General Neurology & Complex Motor Disorders Service, Evelina Children’s Hospital, Guy’s & St. Thomas’ NHS Foundation Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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 wicri:level="4"><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><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></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 wicri:level="3"><nlm:aff id="A21">North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Marques, Wilson" sort="Marques, Wilson" uniqKey="Marques W" first="Wilson" last="Marques">Wilson Marques</name><affiliation wicri:level="4"><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><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation wicri:level="3"><nlm:aff id="A22">Département de Génétique et Cytogénétique, AP-HP, Groupe Hospitalier Pitié–Salpêtrière, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique et Cytogénétique, AP-HP, Groupe Hospitalier Pitié–Salpêtrière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A24">Centre de Déficience des Déficiences Intellectuelles de Causes Rares, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Déficience des Déficiences Intellectuelles de Causes Rares, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Olivieri, Ivana" sort="Olivieri, Ivana" uniqKey="Olivieri I" first="Ivana" last="Olivieri">Ivana Olivieri</name><affiliation wicri:level="1"><nlm:aff id="A25">Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia</wicri:regionArea><wicri:noRegion>Pavia</wicri:noRegion></affiliation></author><author><name sortKey="Orcesi, Simona" sort="Orcesi, Simona" uniqKey="Orcesi S" first="Simona" last="Orcesi">Simona Orcesi</name><affiliation wicri:level="1"><nlm:aff id="A25">Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia</wicri:regionArea><wicri:noRegion>Pavia</wicri:noRegion></affiliation></author><author><name sortKey="Prabhakar, Prab" sort="Prabhakar, Prab" uniqKey="Prabhakar P" first="Prab" last="Prabhakar">Prab Prabhakar</name><affiliation wicri:level="3"><nlm:aff id="A26">Department of Neurology, Great Ormond Street Hospital, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Great Ormond Street Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Rasmussen, Magnhild" sort="Rasmussen, Magnhild" uniqKey="Rasmussen M" first="Magnhild" last="Rasmussen">Magnhild Rasmussen</name><affiliation wicri:level="3"><nlm:aff id="A27">Section of Child Neurology, Women and Children’s Division, Oslo University Hospital, Oslo, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Section of Child Neurology, Women and Children’s Division, Oslo University Hospital, Oslo</wicri:regionArea><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName></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 wicri:level="3"><nlm:aff id="A26">Department of Neurology, Great Ormond Street Hospital, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Great Ormond Street Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Rozenberg, Flore" sort="Rozenberg, Flore" uniqKey="Rozenberg F" first="Flore" last="Rozenberg">Flore Rozenberg</name><affiliation wicri:level="3"><nlm:aff id="A28">Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></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 wicri:level="2"><nlm:aff id="A29">Department of Neurology, Children’s National Medical Center, Washington, DC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Children’s National Medical Center, Washington, DC</wicri:regionArea><placeName><region type="state">District de Columbia</region></placeName></affiliation></author><author><name sortKey="Steindl, Katharina" sort="Steindl, Katharina" uniqKey="Steindl K" first="Katharina" last="Steindl">Katharina Steindl</name><affiliation wicri:level="4"><nlm:aff id="A30">Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Institute of Medical Genetics, University of Zurich, Schwerzenbach</wicri:regionArea><orgName type="university">Université de Zurich</orgName><placeName><settlement type="city">Zurich</settlement><region nuts="3" type="region">Canton de Zurich</region></placeName></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 wicri:level="1"><nlm:aff id="A31">Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></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 wicri:level="1"><nlm:aff id="A32">Paediatric Department, Nobles Hospital, Strang, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Paediatric Department, Nobles Hospital, Strang</wicri:regionArea><wicri:noRegion>Strang</wicri:noRegion></affiliation></author><author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><affiliation wicri:level="2"><nlm:aff id="A29">Department of Neurology, Children’s National Medical Center, Washington, DC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Children’s National Medical Center, Washington, DC</wicri:regionArea><placeName><region type="state">District de Columbia</region></placeName></affiliation></author><author><name sortKey="Vassallo, Grace" sort="Vassallo, Grace" uniqKey="Vassallo G" first="Grace" last="Vassallo">Grace Vassallo</name><affiliation wicri:level="3"><nlm:aff id="A33">Neurology Department, Royal Manchester Children’s Hospital, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurology Department, Royal Manchester Children’s Hospital, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region></placeName></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 wicri:level="1"><nlm:aff id="A34">North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow</wicri:regionArea><wicri:noRegion>Harrow</wicri:noRegion></affiliation></author><author><name sortKey="Wassmer, Evangeline" sort="Wassmer, Evangeline" uniqKey="Wassmer E" first="Evangeline" last="Wassmer">Evangeline Wassmer</name><affiliation wicri:level="3"><nlm:aff id="A35">Neurology Department, Birmingham Children’s Hospital, Birmingham, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurology Department, Birmingham Children’s Hospital, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Whittaker, Elizabeth" sort="Whittaker, Elizabeth" uniqKey="Whittaker E" first="Elizabeth" last="Whittaker">Elizabeth Whittaker</name><affiliation wicri:level="3"><nlm:aff id="A36">Academic Department of Paediatrics, Imperial College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Academic Department of Paediatrics, Imperial College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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 wicri:level="1"><nlm:aff id="A37">Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, Leeds General Infirmary, Leeds</wicri:regionArea><wicri:noRegion>Leeds</wicri:noRegion></affiliation></author><author><name sortKey="Lebon, Pierre" sort="Lebon, Pierre" uniqKey="Lebon P" first="Pierre" last="Lebon">Pierre Lebon</name><affiliation wicri:level="3"><nlm:aff id="A28">Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Suzuki, Tamio" sort="Suzuki, Tamio" uniqKey="Suzuki T" first="Tamio" last="Suzuki">Tamio Suzuki</name><affiliation wicri:level="1"><nlm:aff id="A17">Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata</wicri:regionArea><wicri:noRegion>Yamagata</wicri:noRegion></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 wicri:level="4"><nlm:aff id="A38">Institute of Structural and Molecular Biology, School of Biological Sciences, The University of Edinburgh, Edinburgh, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Structural and Molecular Biology, School of Biological Sciences, The University of Edinburgh, Edinburgh</wicri:regionArea><placeName><settlement type="city">Édimbourg</settlement><region type="country">Écosse</region><settlement type="city">Édimbourg</settlement></placeName><orgName type="university">Université d'Édimbourg</orgName></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 wicri:level="4"><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><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh</wicri:regionArea><placeName><settlement type="city">Édimbourg</settlement><region type="country">Écosse</region><settlement type="city">Édimbourg</settlement></placeName><orgName type="university">Université d'Édimbourg</orgName></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 wicri:level="4"><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><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh</wicri:regionArea><placeName><settlement type="city">Édimbourg</settlement><region type="country">Écosse</region><settlement type="city">Édimbourg</settlement></placeName><orgName type="university">Université d'Édimbourg</orgName></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 wicri:level="4"><nlm:aff id="A39">Faculty of Life Sciences, University of Manchester, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Life Sciences, University of Manchester, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></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 wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></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><idno type="wicri:Area/Pmc/Curation">001F89</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001F89</idno><idno type="wicri:Area/Pmc/Checkpoint">001E40</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001E40</idno><idno type="wicri:Area/Ncbi/Merge">000F85</idno><idno type="wicri:Area/Ncbi/Curation">000F85</idno><idno type="wicri:Area/Ncbi/Checkpoint">000F85</idno><idno type="wicri:Area/Main/Merge">005527</idno><idno type="wicri:Area/Main/Curation">005309</idno><idno type="wicri:Area/Main/Exploration">005309</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 wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></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 wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></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 wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></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 wicri:level="4"><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><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh</wicri:regionArea><placeName><settlement type="city">Édimbourg</settlement><region type="country">Écosse</region><settlement type="city">Édimbourg</settlement></placeName><orgName type="university">Université d'Édimbourg</orgName></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 wicri:level="4"><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><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh</wicri:regionArea><placeName><settlement type="city">Édimbourg</settlement><region type="country">Écosse</region><settlement type="city">Édimbourg</settlement></placeName><orgName type="university">Université d'Édimbourg</orgName></affiliation></author><author><name sortKey="Szynkiewicz, Marcin" sort="Szynkiewicz, Marcin" uniqKey="Szynkiewicz M" first="Marcin" last="Szynkiewicz">Marcin Szynkiewicz</name><affiliation wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></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 wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></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 wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Zampini, Massimiliano" sort="Zampini, Massimiliano" uniqKey="Zampini M" first="Massimiliano" last="Zampini">Massimiliano Zampini</name><affiliation wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></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 wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></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 wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></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 wicri:level="2"><nlm:aff id="A3">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Battini, Roberta" sort="Battini, Roberta" uniqKey="Battini R" first="Roberta" last="Battini">Roberta Battini</name><affiliation wicri:level="3"><nlm:aff id="A4">Department of Developmental Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Stella Maris, Pisa, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Developmental Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Stella Maris, Pisa</wicri:regionArea><placeName><settlement type="city">Pise</settlement><region nuts="2">Toscane</region></placeName></affiliation></author><author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><affiliation wicri:level="3"><nlm:aff id="A5">Laboratory of Molecular Medicine, Department of Neuroscience, Bambino Gesù Children’s Research Hospital, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory of Molecular Medicine, Department of Neuroscience, Bambino Gesù Children’s Research Hospital, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></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 wicri:level="4"><nlm:aff id="A6">University College London (UCL) Institute of Child Health, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University College London (UCL) Institute of Child Health, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></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 wicri:level="3"><nlm:aff id="A7">Birmingham Women’s National Health Service (NHS) Foundation Trust, Birmingham, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Birmingham Women’s National Health Service (NHS) Foundation Trust, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Carpanelli, Marialuisa" sort="Carpanelli, Marialuisa" uniqKey="Carpanelli M" first="Marialuisa" last="Carpanelli">Marialuisa Carpanelli</name><affiliation wicri:level="1"><nlm:aff id="A8">Department of Child Neurology and Psychiatry, A Manzoni Hospital, Lecco, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Child Neurology and Psychiatry, A Manzoni Hospital, Lecco</wicri:regionArea><wicri:noRegion>Lecco</wicri:noRegion></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 wicri:level="3"><nlm:aff id="A9">Nutrition and Metabolism Unit, Hôpital Universitaire des Enfants Reine Fabiola (ULB), Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Nutrition and Metabolism Unit, Hôpital Universitaire des Enfants Reine Fabiola (ULB), Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></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 wicri:level="3"><nlm:aff id="A10">Reference Center of Metabolic Diseases, Hôpital Necker–Enfants Malades, Paris Descartes University, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Reference Center of Metabolic Diseases, Hôpital Necker–Enfants Malades, Paris Descartes University, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></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 wicri:level="3"><nlm:aff id="A11">Pediatric Neurology Unit, Hospital Vall d’Hebron, Barcelona, Spain</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Pediatric Neurology Unit, Hospital Vall d’Hebron, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name><affiliation wicri:level="3"><nlm:aff id="A12">Neuropediatric Unit, Assistance Publique–Hôpitaux de Paris (AP-HP), Paris V Descartes University, Necker Hospital, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Neuropediatric Unit, Assistance Publique–Hôpitaux de Paris (AP-HP), Paris V Descartes University, Necker Hospital, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Fazzi, Elisa" sort="Fazzi, Elisa" uniqKey="Fazzi E" first="Elisa" last="Fazzi">Elisa Fazzi</name><affiliation wicri:level="1"><nlm:aff id="A13">Mother and Child Department, Unit of Child Neurology and Psychiatry, Civil Hospital, University of Brescia, Brescia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Mother and Child Department, Unit of Child Neurology and Psychiatry, Civil Hospital, University of Brescia, Brescia</wicri:regionArea><wicri:noRegion>Brescia</wicri:noRegion></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 wicri:level="3"><nlm:aff id="A14">Department of Neurology, Hospital Sant Joan de Déu (HSJD), Barcelona, Spain</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Neurology, Hospital Sant Joan de Déu (HSJD), Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation><affiliation wicri:level="3"><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><country xml:lang="fr">Espagne</country><wicri:regionArea>El Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), Instituto de Salud Carlos III, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Heiberg, Arvid" sort="Heiberg, Arvid" uniqKey="Heiberg A" first="Arvid" last="Heiberg">Arvid Heiberg</name><affiliation wicri:level="3"><nlm:aff id="A16">Department of Medical Genetics, Oslo University Hospital, National Hospital, Oslo, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Medical Genetics, Oslo University Hospital, National Hospital, Oslo</wicri:regionArea><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName></affiliation></author><author><name sortKey="Kawaguchi, Masakazu" sort="Kawaguchi, Masakazu" uniqKey="Kawaguchi M" first="Masakazu" last="Kawaguchi">Masakazu Kawaguchi</name><affiliation wicri:level="1"><nlm:aff id="A17">Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata</wicri:regionArea><wicri:noRegion>Yamagata</wicri:noRegion></affiliation></author><author><name sortKey="Kumar, Ram" sort="Kumar, Ram" uniqKey="Kumar R" first="Ram" last="Kumar">Ram Kumar</name><affiliation wicri:level="1"><nlm:aff id="A18">Department of Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool</wicri:regionArea><wicri:noRegion>Liverpool</wicri:noRegion></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 wicri:level="3"><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><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>General Neurology & Complex Motor Disorders Service, Evelina Children’s Hospital, Guy’s & St. Thomas’ NHS Foundation Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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 wicri:level="4"><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><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></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 wicri:level="3"><nlm:aff id="A21">North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Marques, Wilson" sort="Marques, Wilson" uniqKey="Marques W" first="Wilson" last="Marques">Wilson Marques</name><affiliation wicri:level="4"><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><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation wicri:level="3"><nlm:aff id="A22">Département de Génétique et Cytogénétique, AP-HP, Groupe Hospitalier Pitié–Salpêtrière, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique et Cytogénétique, AP-HP, Groupe Hospitalier Pitié–Salpêtrière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A24">Centre de Déficience des Déficiences Intellectuelles de Causes Rares, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Déficience des Déficiences Intellectuelles de Causes Rares, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Olivieri, Ivana" sort="Olivieri, Ivana" uniqKey="Olivieri I" first="Ivana" last="Olivieri">Ivana Olivieri</name><affiliation wicri:level="1"><nlm:aff id="A25">Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia</wicri:regionArea><wicri:noRegion>Pavia</wicri:noRegion></affiliation></author><author><name sortKey="Orcesi, Simona" sort="Orcesi, Simona" uniqKey="Orcesi S" first="Simona" last="Orcesi">Simona Orcesi</name><affiliation wicri:level="1"><nlm:aff id="A25">Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia</wicri:regionArea><wicri:noRegion>Pavia</wicri:noRegion></affiliation></author><author><name sortKey="Prabhakar, Prab" sort="Prabhakar, Prab" uniqKey="Prabhakar P" first="Prab" last="Prabhakar">Prab Prabhakar</name><affiliation wicri:level="3"><nlm:aff id="A26">Department of Neurology, Great Ormond Street Hospital, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Great Ormond Street Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Rasmussen, Magnhild" sort="Rasmussen, Magnhild" uniqKey="Rasmussen M" first="Magnhild" last="Rasmussen">Magnhild Rasmussen</name><affiliation wicri:level="3"><nlm:aff id="A27">Section of Child Neurology, Women and Children’s Division, Oslo University Hospital, Oslo, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Section of Child Neurology, Women and Children’s Division, Oslo University Hospital, Oslo</wicri:regionArea><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName></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 wicri:level="3"><nlm:aff id="A26">Department of Neurology, Great Ormond Street Hospital, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Great Ormond Street Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Rozenberg, Flore" sort="Rozenberg, Flore" uniqKey="Rozenberg F" first="Flore" last="Rozenberg">Flore Rozenberg</name><affiliation wicri:level="3"><nlm:aff id="A28">Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></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 wicri:level="2"><nlm:aff id="A29">Department of Neurology, Children’s National Medical Center, Washington, DC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Children’s National Medical Center, Washington, DC</wicri:regionArea><placeName><region type="state">District de Columbia</region></placeName></affiliation></author><author><name sortKey="Steindl, Katharina" sort="Steindl, Katharina" uniqKey="Steindl K" first="Katharina" last="Steindl">Katharina Steindl</name><affiliation wicri:level="4"><nlm:aff id="A30">Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Institute of Medical Genetics, University of Zurich, Schwerzenbach</wicri:regionArea><orgName type="university">Université de Zurich</orgName><placeName><settlement type="city">Zurich</settlement><region nuts="3" type="region">Canton de Zurich</region></placeName></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 wicri:level="1"><nlm:aff id="A31">Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></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 wicri:level="1"><nlm:aff id="A32">Paediatric Department, Nobles Hospital, Strang, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Paediatric Department, Nobles Hospital, Strang</wicri:regionArea><wicri:noRegion>Strang</wicri:noRegion></affiliation></author><author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><affiliation wicri:level="2"><nlm:aff id="A29">Department of Neurology, Children’s National Medical Center, Washington, DC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Children’s National Medical Center, Washington, DC</wicri:regionArea><placeName><region type="state">District de Columbia</region></placeName></affiliation></author><author><name sortKey="Vassallo, Grace" sort="Vassallo, Grace" uniqKey="Vassallo G" first="Grace" last="Vassallo">Grace Vassallo</name><affiliation wicri:level="3"><nlm:aff id="A33">Neurology Department, Royal Manchester Children’s Hospital, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurology Department, Royal Manchester Children’s Hospital, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region></placeName></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 wicri:level="1"><nlm:aff id="A34">North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow</wicri:regionArea><wicri:noRegion>Harrow</wicri:noRegion></affiliation></author><author><name sortKey="Wassmer, Evangeline" sort="Wassmer, Evangeline" uniqKey="Wassmer E" first="Evangeline" last="Wassmer">Evangeline Wassmer</name><affiliation wicri:level="3"><nlm:aff id="A35">Neurology Department, Birmingham Children’s Hospital, Birmingham, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurology Department, Birmingham Children’s Hospital, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Whittaker, Elizabeth" sort="Whittaker, Elizabeth" uniqKey="Whittaker E" first="Elizabeth" last="Whittaker">Elizabeth Whittaker</name><affiliation wicri:level="3"><nlm:aff id="A36">Academic Department of Paediatrics, Imperial College London, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Academic Department of Paediatrics, Imperial College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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 wicri:level="1"><nlm:aff id="A37">Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, Leeds General Infirmary, Leeds</wicri:regionArea><wicri:noRegion>Leeds</wicri:noRegion></affiliation></author><author><name sortKey="Lebon, Pierre" sort="Lebon, Pierre" uniqKey="Lebon P" first="Pierre" last="Lebon">Pierre Lebon</name><affiliation wicri:level="3"><nlm:aff id="A28">Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Virologie, Paris Descartes University, AP-HP, Hopital Cochin St. Vincent de Paul, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Suzuki, Tamio" sort="Suzuki, Tamio" uniqKey="Suzuki T" first="Tamio" last="Suzuki">Tamio Suzuki</name><affiliation wicri:level="1"><nlm:aff id="A17">Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata</wicri:regionArea><wicri:noRegion>Yamagata</wicri:noRegion></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 wicri:level="4"><nlm:aff id="A38">Institute of Structural and Molecular Biology, School of Biological Sciences, The University of Edinburgh, Edinburgh, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Structural and Molecular Biology, School of Biological Sciences, The University of Edinburgh, Edinburgh</wicri:regionArea><placeName><settlement type="city">Édimbourg</settlement><region type="country">Écosse</region><settlement type="city">Édimbourg</settlement></placeName><orgName type="university">Université d'Édimbourg</orgName></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 wicri:level="4"><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><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh</wicri:regionArea><placeName><settlement type="city">Édimbourg</settlement><region type="country">Écosse</region><settlement type="city">Édimbourg</settlement></placeName><orgName type="university">Université d'Édimbourg</orgName></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 wicri:level="4"><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><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh</wicri:regionArea><placeName><settlement type="city">Édimbourg</settlement><region type="country">Écosse</region><settlement type="city">Édimbourg</settlement></placeName><orgName type="university">Université d'Édimbourg</orgName></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 wicri:level="4"><nlm:aff id="A39">Faculty of Life Sciences, University of Manchester, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Life Sciences, University of Manchester, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></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 wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></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><affiliations><list><country><li>Australie</li><li>Belgique</li><li>Brésil</li><li>Espagne</li><li>France</li><li>Italie</li><li>Japon</li><li>Norvège</li><li>Royaume-Uni</li><li>Suisse</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Canton de Zurich</li><li>Catalogne</li><li>Communauté de Madrid</li><li>District de Columbia</li><li>Grand Londres</li><li>Grand Manchester</li><li>Latium</li><li>Midlands de l'Ouest</li><li>Région de Bruxelles-Capitale</li><li>Texas</li><li>Toscane</li><li>Écosse</li><li>État de São Paulo</li><li>Île-de-France</li><li>Østlandet</li></region><settlement><li>Barcelone</li><li>Birmingham</li><li>Bruxelles</li><li>Londres</li><li>Madrid</li><li>Manchester</li><li>Oslo</li><li>Paris</li><li>Pise</li><li>Rome</li><li>São Paulo</li><li>Zurich</li><li>Édimbourg</li></settlement><orgName><li>University College de Londres</li><li>Université d'Édimbourg</li><li>Université de Manchester</li><li>Université de São Paulo</li><li>Université de Zurich</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Rice, Gillian I" sort="Rice, Gillian I" uniqKey="Rice G" first="Gillian I" last="Rice">Gillian I. Rice</name></region><name sortKey="Bhaskar, Sanjeev S" sort="Bhaskar, Sanjeev S" uniqKey="Bhaskar S" first="Sanjeev S" last="Bhaskar">Sanjeev S. Bhaskar</name><name sortKey="Briggs, Tracy A" sort="Briggs, Tracy A" uniqKey="Briggs T" first="Tracy A" last="Briggs">Tracy A. Briggs</name><name sortKey="Brogan, Paul A" sort="Brogan, Paul A" uniqKey="Brogan P" first="Paul A" last="Brogan">Paul A. Brogan</name><name sortKey="Brueton, Louise A" sort="Brueton, Louise A" uniqKey="Brueton L" first="Louise A" last="Brueton">Louise A. Brueton</name><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J" last="Crow">Yanick J. Crow</name><name sortKey="Dickerson, Jonathan E" sort="Dickerson, Jonathan E" uniqKey="Dickerson J" first="Jonathan E" last="Dickerson">Jonathan E. Dickerson</name><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><name sortKey="Greenwood, Sam M" sort="Greenwood, Sam M" uniqKey="Greenwood S" first="Sam M" last="Greenwood">Sam M. Greenwood</name><name sortKey="Jenkinson, Emma M" sort="Jenkinson, Emma M" uniqKey="Jenkinson E" first="Emma M" last="Jenkinson">Emma M. Jenkinson</name><name sortKey="Kasher, Paul R" sort="Kasher, Paul R" uniqKey="Kasher P" first="Paul R" last="Kasher">Paul R. Kasher</name><name sortKey="Keegan, Liam P" sort="Keegan, Liam P" uniqKey="Keegan L" first="Liam P" last="Keegan">Liam P. Keegan</name><name sortKey="Kumar, Ram" sort="Kumar, Ram" uniqKey="Kumar R" first="Ram" last="Kumar">Ram Kumar</name><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><name sortKey="Livingston, John H" sort="Livingston, John H" uniqKey="Livingston J" first="John H" last="Livingston">John H. Livingston</name><name sortKey="Lovell, Simon C" sort="Lovell, Simon C" uniqKey="Lovell S" first="Simon C" last="Lovell">Simon C. Lovell</name><name sortKey="Male, Alison M" sort="Male, Alison M" uniqKey="Male A" first="Alison M" last="Male">Alison M. Male</name><name sortKey="Mannion, Niamh M" sort="Mannion, Niamh M" uniqKey="Mannion N" first="Niamh M" last="Mannion">Niamh M. Mannion</name><name sortKey="Mclaughlin, Paul J" sort="Mclaughlin, Paul J" uniqKey="Mclaughlin P" first="Paul J" last="Mclaughlin">Paul J. Mclaughlin</name><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><name sortKey="Prabhakar, Prab" sort="Prabhakar, Prab" uniqKey="Prabhakar P" first="Prab" last="Prabhakar">Prab Prabhakar</name><name sortKey="Robinson, Robert A" sort="Robinson, Robert A" uniqKey="Robinson R" first="Robert A" last="Robinson">Robert A. Robinson</name><name sortKey="Szynkiewicz, Marcin" sort="Szynkiewicz, Marcin" uniqKey="Szynkiewicz M" first="Marcin" last="Szynkiewicz">Marcin Szynkiewicz</name><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><name sortKey="Vassallo, Grace" sort="Vassallo, Grace" uniqKey="Vassallo G" first="Grace" last="Vassallo">Grace Vassallo</name><name sortKey="Wakeling, Emma L" sort="Wakeling, Emma L" uniqKey="Wakeling E" first="Emma L" last="Wakeling">Emma L. Wakeling</name><name sortKey="Wassmer, Evangeline" sort="Wassmer, Evangeline" uniqKey="Wassmer E" first="Evangeline" last="Wassmer">Evangeline Wassmer</name><name sortKey="Whittaker, Elizabeth" sort="Whittaker, Elizabeth" uniqKey="Whittaker E" first="Elizabeth" last="Whittaker">Elizabeth Whittaker</name><name sortKey="Zampini, Massimiliano" sort="Zampini, Massimiliano" uniqKey="Zampini M" first="Massimiliano" last="Zampini">Massimiliano Zampini</name></country><country name="États-Unis"><region name="Texas"><name sortKey="Bacino, Carlos A" sort="Bacino, Carlos A" uniqKey="Bacino C" first="Carlos A" last="Bacino">Carlos A. Bacino</name></region><name sortKey="Schmidt, Johanna L" sort="Schmidt, Johanna L" uniqKey="Schmidt J" first="Johanna L" last="Schmidt">Johanna L. Schmidt</name><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name></country><country name="Italie"><region name="Toscane"><name sortKey="Battini, Roberta" sort="Battini, Roberta" uniqKey="Battini R" first="Roberta" last="Battini">Roberta Battini</name></region><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><name sortKey="Carpanelli, Marialuisa" sort="Carpanelli, Marialuisa" uniqKey="Carpanelli M" first="Marialuisa" last="Carpanelli">Marialuisa Carpanelli</name><name sortKey="Fazzi, Elisa" sort="Fazzi, Elisa" uniqKey="Fazzi E" first="Elisa" last="Fazzi">Elisa Fazzi</name><name sortKey="Olivieri, Ivana" sort="Olivieri, Ivana" uniqKey="Olivieri I" first="Ivana" last="Olivieri">Ivana Olivieri</name><name sortKey="Orcesi, Simona" sort="Orcesi, Simona" uniqKey="Orcesi S" first="Simona" last="Orcesi">Simona Orcesi</name></country><country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="Laet, Corinne De" sort="Laet, Corinne De" uniqKey="Laet C" first="Corinne De" last="Laet">Corinne De Laet</name></region></country><country name="France"><region name="Île-de-France"><name sortKey="De Lonlay, Pascale" sort="De Lonlay, Pascale" uniqKey="De Lonlay P" first="Pascale" last="De Lonlay">Pascale De Lonlay</name></region><name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name><name sortKey="Lebon, Pierre" sort="Lebon, Pierre" uniqKey="Lebon P" first="Pierre" last="Lebon">Pierre Lebon</name><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><name sortKey="Rozenberg, Flore" sort="Rozenberg, Flore" uniqKey="Rozenberg F" first="Flore" last="Rozenberg">Flore Rozenberg</name></country><country name="Espagne"><region name="Catalogne"><name sortKey="Del Toro, Mireia" sort="Del Toro, Mireia" uniqKey="Del Toro M" first="Mireia" last="Del Toro">Mireia Del Toro</name></region><name sortKey="Garcia Cazorla, Angels" sort="Garcia Cazorla, Angels" uniqKey="Garcia Cazorla A" first="Àngels" last="Garcia-Cazorla">Àngels Garcia-Cazorla</name><name sortKey="Garcia Cazorla, Angels" sort="Garcia Cazorla, Angels" uniqKey="Garcia Cazorla A" first="Àngels" last="Garcia-Cazorla">Àngels Garcia-Cazorla</name></country><country name="Norvège"><region name="Østlandet"><name sortKey="Heiberg, Arvid" sort="Heiberg, Arvid" uniqKey="Heiberg A" first="Arvid" last="Heiberg">Arvid Heiberg</name></region><name sortKey="Rasmussen, Magnhild" sort="Rasmussen, Magnhild" uniqKey="Rasmussen M" first="Magnhild" last="Rasmussen">Magnhild Rasmussen</name></country><country name="Japon"><noRegion><name sortKey="Kawaguchi, Masakazu" sort="Kawaguchi, Masakazu" uniqKey="Kawaguchi M" first="Masakazu" last="Kawaguchi">Masakazu Kawaguchi</name></noRegion><name sortKey="Suzuki, Tamio" sort="Suzuki, Tamio" uniqKey="Suzuki T" first="Tamio" last="Suzuki">Tamio Suzuki</name></country><country name="Brésil"><region name="État de São Paulo"><name sortKey="Lourenco, Charles M" sort="Lourenco, Charles M" uniqKey="Lourenco C" first="Charles M" last="Lourenco">Charles M. Lourenco</name></region><name sortKey="Marques, Wilson" sort="Marques, Wilson" uniqKey="Marques W" first="Wilson" last="Marques">Wilson Marques</name></country><country name="Suisse"><region name="Canton de Zurich"><name sortKey="Steindl, Katharina" sort="Steindl, Katharina" uniqKey="Steindl K" first="Katharina" last="Steindl">Katharina Steindl</name></region></country><country name="Australie"><noRegion><name sortKey="Tan, Tiong Y" sort="Tan, Tiong Y" uniqKey="Tan T" first="Tiong Y" last="Tan">Tiong Y. Tan</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 005309 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 005309 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= PMC:4154508
|texte= Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:23001123" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |