Autor: "Forte GM" - OpacWWW

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Tytuł:: Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
Autorzy:: Rice GI; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK.
Del Toro Duany Y; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115, USA.; Boston Children's Hospital, Boston, MA 02115, USA.
Jenkinson EM; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK.
Forte GM; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK.
Anderson BH; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK.
Ariaudo G; Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy.; Department of Brain and Behavioral Sciences, Unit of Child Neurology and Psychiatry, University of Pavia, Pavia, Italy.
Bader-Meunier B; Department of pediatric Immunology and Rheumatology, INSERM U 768, Imagine Foundation, APHP, Hôpital Necker, Paris, France.
Baildam EM; Department of Paediatric Rheumatology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
Battini R; Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy.
Beresford MW; Institute of Translational Medicine, University of Liverpool; Department of Paediatric Rheumatology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
Casarano M; Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy.
Chouchane M; Service de Pédiatrie 1, CHU de Dijon, Dijon, France.
Cimaz R; AOU Meyer and University of Florence, Italy.
Collins AE; Department of Pediatrics, Division of Pediatric Neurology, University of Colorado, Denver, School of Medicine, USA.
Cordeiro NJ; Department of Paediatrics, Rainbow House NHS Ayrshire & Arran, Scotland, UK.
Dale RC; Neuroimmunology group, the Children's Hospital at Westmead, University of Sydney, Australia.
Davidson JE; Department of Paediatric Rheumatology, Royal Hospital for Sick Children, Glasgow, UK.
De Waele L; Department of Development and Regeneration, KU Leuven, Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium.
Desguerre I; Department of pediatric Immunology and Rheumatology, INSERM U 768, Imagine Foundation, APHP, Hôpital Necker, Paris, France.
Faivre L; Centre de Génétique, Hôpital d'Enfants, CHU de Dijon et Université de Bourgogne, Dijon, France.
Fazzi E; Child Neurology and Psychiatry Unit. Civil Hospital. Department of Clinical and Experimental Sciences, University of Brescia, Italy.
Isidor B; Service de Génétique Médicale, Inserm, CHU Nantes, UMR-S 957, Nantes, France.
Lagae L; Department of Development and Regeneration, KU Leuven, Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium.
Latchman AR; Division of General Pediatrics, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Canada.
Lebon P; Université et Faculté de Medecine Paris Descartes, Paris, France.
Li C; Department of Pediatrics, Clinical Genetics Program, McMaster Children's Hospital, McMaster University, Hamilton, Canada.
Livingston JH; Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
Lourenço CM; Clinics Hospital of Ribeirao Preto, University of São Paulo, Brasil.
Mancardi MM; O.U. Child Neuropsychiatry, Department of Neuroscience, Giannina Gaslini Institute, Genoa, Italy.
Masurel-Paulet A; Centre de Génétique, Hôpital d'Enfants, CHU de Dijon et Université de Bourgogne, Dijon, France.
McInnes IB; Institute of Infection Immunity and Inflammation, University of Glasgow, Glasgow, UK.
Menezes MP; Institute for Neuroscience and Muscle Research, the Children's Hospital at Westmead, University of Sydney, Australia.
Mignot C; AP-HP, Department of Genetics, Groupe Hospitalier Pitié Salpêtrière, F-75013, Paris, France.
O'Sullivan J; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK.
Orcesi S; Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy.
Picco PP; Paediatric Rheumatology, Giannina Gaslini Institute, Genoa, Italy.
Riva E; Clinical Department of Pediatrics, San Paolo Hospital, University of Milan, Italy.
Robinson RA; Department of Neurology, Great Ormond Street Hospital for Children, London, UK.
Rodriguez D; AP-HP, Service de Neuropédiatrie & Centre de Référence de Neurogénétique, Hôpital A. Trousseau, HUEP, F-75012 Paris, France.; UPMC Univ Paris 06, F-75012 Paris; Inserm U676, F-75019 Paris, France.
Salvatici E; Clinical Department of Pediatrics, San Paolo Hospital, University of Milan, Italy.
Scott C; University of Cape Town, Red Cross War Memorial Children's Hospital, Republic of South Africa.
Szybowska M; Department of Pediatrics, Clinical Genetics Program, McMaster Children's Hospital, McMaster University, Hamilton, Canada.
Tolmie JL; Department of Clinical Genetics, Southern General Hospital, Glasgow, Scotland, UK.
Vanderver A; Department of Paediatric Neurology, Children's National Medical Center, Washington DC, USA.
Vanhulle C; Service de Néonatalogie et Réanimation, Hôpital Charles Nicolle, CHU Rouen, F-76031 Rouen, France.
Vieira JP; Neurology Department. Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Portugal.
Webb K; University of Cape Town, Red Cross War Memorial Children's Hospital, Republic of South Africa.
Whitney RN; Division of Pediatric Neurology, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Canada.
Williams SG; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK.
Wolfe LA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA.
Zuberi SM; Paediatric Neurosciences Research Group, Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, UK.; School of Medicine, College of Medical, Veterinary & Life Sciences, University of Glasgow, UK.
Hur S; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115, USA.; Boston Children's Hospital, Boston, MA 02115, USA.
Crow YJ; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK.; Pokaż więcej
Źródło:: Nature genetics [Nat Genet] 2014 May; Vol. 46 (5), pp. 503-509. Date of Electronic Publication: 2014 Mar 30.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Models, Molecular*
Phenotype*
Autoimmune Diseases of the Nervous System/*genetics
DEAD-box RNA Helicases/*genetics
Interferon Type I/*immunology
Mutation/*genetics
Nervous System Malformations/*genetics
Signal Transduction/*genetics
Analysis of Variance ; Autoimmune Diseases of the Nervous System/immunology ; Base Sequence ; DEAD-box RNA Helicases/chemistry ; Electrophoretic Mobility Shift Assay ; Exome/genetics ; HEK293 Cells ; Humans ; Interferon-Induced Helicase, IFIH1 ; Microsatellite Repeats/genetics ; Molecular Sequence Data ; Nervous System Malformations/immunology ; Real-Time Polymerase Chain Reaction ; Sequence Analysis, DNA ; Spectrum Analysis
SCR Disease Name:: Aicardi-Goutieres syndrome