0000000000228387

AUTHOR

Christiaan Scott

showing 4 related works from this author

Proceedings Of The 23Rd Paediatric Rheumatology European Society Congress: Part Two

2017

lcsh:Diseases of the musculoskeletal systemlcsh:RJ1-570lcsh:Pediatricslcsh:RC925-935Meeting Abstracts
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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

2014

The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demonstrating an upregulated type I interferon response. We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (MDA5) cause a spectrum of neuro-immunological features consistently associated with an enhanced interferon state. Cellular and biochemica…

Models MolecularInterferon-Induced Helicase IFIH1Molecular Sequence DataHDE NEU PEDElectrophoretic Mobility Shift AssayBiologymedicine.disease_causeNervous System MalformationsReal-Time Polymerase Chain ReactionArticleDEAD-box RNA HelicasesImmune systemAutoimmune Diseases of the Nervous SystemDownregulation and upregulationAnalysis of Variance; Autoimmune Diseases of the Nervous System; Base Sequence; DEAD-box RNA Helicases; Electrophoretic Mobility Shift Assay; Exome; HEK293 Cells; Humans; Interferon Type I; Microsatellite Repeats; Molecular Sequence Data; Mutation; Nervous System Malformations; Real-Time Polymerase Chain Reaction; Sequence Analysis DNA; Signal Transduction; Spectrum Analysis; Models Molecular; Phenotype; GeneticsModelsInterferonGeneticsmedicineHumansExomeMutationAnalysis of VarianceBase SequenceSpectrum AnalysisMolecularRNAMDA5DNASequence Analysis DNAMolecular biology3. Good healthInterferon Tipo IHEK293 CellsPhenotypeInterferon Type IMutationCancer researchSignal transductionSequence AnalysisInterferon type Imedicine.drugMicrosatellite RepeatsSignal TransductionNature genetics
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Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

2017

lcsh:Diseases of the musculoskeletal systemlcsh:RJ1-570lcsh:Pediatricslcsh:RC925-935Meeting Abstracts
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Phenotypic variability and disparities in treatment and outcomes of childhood arthritis throughout the world: an observational cohort study

2019

Made available in DSpace on 2019-10-05T16:54:20Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-04-01 IRCCS Istituto Giannina Gaslini Background To our knowledge, the characteristics and burden of childhood arthritis have never been studied on a worldwide basis. We aimed to investigate, with a cross-sectional study, the prevalence of disease categories, treatment methods, and disease status in patients from across different geographical areas and from countries with diverse wealth status. Methods In this multinational, cross-sectional, observational cohort study, we asked international paediatric rheumatologists from specialised centres to enrol children with a diagnosis of juvenile …

Malemedicine.medical_specialtyChildhood arthritisCross-sectional studyPopulationGlobal HealthPediatrics03 medical and health sciences0302 clinical medicine030225 pediatricsEpidemiologymedicineDevelopmental and Educational PsychologyJournal ArticleHumansPediatrics Perinatology and Child Health; Developmental and Educational Psychology030212 general & internal medicineHealthcare DisparitiesChildeducationDisease burdenPain MeasurementRetrospective Studieseducation.field_of_studyOligoarthritisbusiness.industryPerinatology and Child HealthJuvenile idiopathic arthritismedicine.diseaseJUVENILE IDIOPATHIC ARTHRITIS; OF-RHEUMATOLOGY RECOMMENDATIONS; DISEASE-ACTIVITY SCORE; DEFINING CRITERIA; CLASSIFICATION; CHILDREN; EPIDEMIOLOGY; VALIDATION; COUNTRIES; VALIDITYArthritis Juvenilechildhood arthritisphenotypic variabilityobservational cohort studyCross-Sectional StudiesBiological Variation PopulationSettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAAntirheumatic AgentsChild PreschoolPediatrics Perinatology and Child HealthQuality of LifeFemalePolyarthritisJuvenile idiopatic arthritis of-rheumatology recommentadions disease-activity score defining criteria classification children epidemiology validation countries validitybusinessDemographyCohort study
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