0000000000228280

AUTHOR

Michael W. Beresford

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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The European network for care of children with paediatric rheumatic diseases : Care across borders

2019

Objectives. To provide an overview of the paediatric rheumatology (PR) services in Europe, describe current delivery of care and training, set standards for care, identify unmet needs and inform future specialist service provision. Methods. An online survey was developed and presented to national coordinating centres of the Paediatric Rheumatology International Trials Organisation (PRINTO) (country survey) and to individual PR centres (centre and disease surveys) as a part of the European Union (EU) Single Hub and Access point for paediatric Rheumatology in Europe project. The survey contained components covering the organization of PR care, composition of teams, education, health care and …

Transition to Adult Caremedicine.medical_specialtyBiomedical Researchstandards of careChild Health ServicesPopulationDiseaseHealth Services AccessibilityTransition management (governance)paediatric rheumatology03 medical and health sciences0302 clinical medicineRheumatologyRheumatic DiseasesHealth caremedicineJournal ArticleHumansmedia_common.cataloged_instancePharmacology (medical)030212 general & internal medicineEuropean unionChildeducationIntersectoral Collaborationmedia_common030203 arthritis & rheumatologyService (business)Biological ProductsHealth Services Needs and Demandeducation.field_of_studyEducation Medicalbusiness.industryStandard of CareDrug Utilizationpaediatric rheumatology service provision standards of careEuropeEastern europeanClinical trialHealth Care SurveysFamily medicineservice provisionHealth Services ResearchDrug MonitoringbusinessDelivery of Health CareRheumatology (United Kingdom)
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