0000000000300148

AUTHOR

Timothy R D J Radstake

showing 3 related works from this author

Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study

2012

Item does not contain fulltext INTRODUCTION: A recent genome-wide association study in European systemic sclerosis (SSc) patients identified three loci (PSORS1C1, TNIP1 and RHOB) as novel genetic risk factors for the disease. The aim of this study was to replicate the previously mentioned findings in a large multicentre independent SSc cohort of Caucasian ancestry. METHODS: 4389 SSc patients and 7611 healthy controls from different European countries and the USA were included in the study. Six single nucleotide polymorphisms (SNP): rs342070, rs13021401 (RHOB), rs2233287, rs4958881, rs3792783 (TNIP1) and rs3130573 (PSORS1C1) were analysed. Overall significance was calculated by pooled analys…

Oncologymedicine.medical_specialtysystemic sclerosisRHOBImmunologyGenome-wide association studySingle-nucleotide polymorphismBioinformaticsPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyArticleWhite PeopleRheumatologyRisk FactorsInternal medicineRhoB GTP-Binding Proteinsystemic sclerosis; genome wide screening; genetic risk factorsmedicinegenetic risk factorsImmunology and AllergySNPHumansGenetic Predisposition to DiseaseAllelerhoB GTP-Binding ProteinRheumatology and AutoimmunityScleroderma Systemicbusiness.industryHaplotypeProteinsgenome wide screeningDNA-Binding ProteinsEuropeHaplotypesCohortEvaluation of complex medical interventions Auto-immunity transplantation and immunotherapy [NCEBP 2]businessGenome-Wide Association Study
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The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis.

2013

Systemic sclerosis (SSc) is a fibrotic autoimmune disease in which the genetic component plays an important role. One of the strongest SSc association signals outside the human leukocyte antigen (HLA) region corresponds to interferon (IFN) regulatory factor 5 (IRF5), a major regulator of the type I IFN pathway. In this study we aimed to evaluate whether three different haplotypic blocks within this locus, which have been shown to alter the protein function influencing systemic lupus erythematosus (SLE) susceptibility, are involved in SSc susceptibility and clinical phenotypes. For that purpose, we genotyped one representative single-nucleotide polymorphism (SNP) of each block (rs10488631, r…

MaleLinkage disequilibrium:Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings]Polimorfismo de nucleótido simpleSLElcsh:MedicineAutoimmunityGenome-wide association studyLinkage DisequilibriumScleroderma:Phenomena and Processes::Genetic Phenomena::Genotype::Haplotypes [Medical Subject Headings]:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]Gene Frequency:Named Groups::Persons::Population Groups::Continental Population Groups::European Continental Ancestry Group [Medical Subject Headings]Risk FactorsIRF5Genetics of the Immune SystemLupus Erythematosus Systemic:Diseases::Skin and Connective Tissue Diseases::Skin Diseases::Scleroderma Systemic [Medical Subject Headings]skin and connective tissue diseaseslcsh:ScienceMultidisciplinary:Diseases::Immune System Diseases::Autoimmune Diseases::Lupus Erythematosus Systemic [Medical Subject Headings]Predisposición genética a la enfermedad:Phenomena and Processes::Genetic Phenomena::Genetic Linkage::Linkage Disequilibrium [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease [Medical Subject Headings]PhenotypeInterferon Regulatory FactorsSYSTEMIC SCLEROSISMedicineEvaluation of complex medical interventions Auto-immunity transplantation and immunotherapy [NCEBP 2]FemaleIRF5; SLE; TYPE I INTERFERON; SYSTEMIC SCLEROSISHaplotiposResearch ArticleFactores de riesgoImmunology:Chemicals and Drugs::Amino Acids Peptides and Proteins::Peptides::Intracellular Signaling Peptides and Proteins::Adaptor Proteins Signal Transducing::Interferon Regulatory Factors [Medical Subject Headings]:Check Tags::Male [Medical Subject Headings]:Health Care::Environment and Public Health::Public Health::Epidemiologic Factors::Causality::Risk Factors [Medical Subject Headings]Single-nucleotide polymorphismHuman leukocyte antigenBiologyPolymorphism Single NucleotideWhite PeopleAutoimmune DiseasesRheumatologyLupus eritematoso sistémicoGeneticsHumansGenetic Predisposition to DiseaseGrupo de ascendencia continental europeaAlleleBiologyAllele frequencyAllelesGenetic Association Studies:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings]Scleroderma SystemicHaplotypelcsh:R:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genetic Loci [Medical Subject Headings]Human Genetics:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism Genetic [Medical Subject Headings]Factores reguladores del interferónHaplotypesDesequilibrio de ligamiento:Check Tags::Female [Medical Subject Headings]Genetic LociTYPE I INTERFERONGenetics of DiseaseImmunologyGenetic PolymorphismClinical Immunologylcsh:Q:Phenomena and Processes::Genetic Phenomena::Gene Frequency [Medical Subject Headings]Population GeneticsIRF5PLoS ONE
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Guidelines for the use of flow cytometry and cell sorting in immunological studies

2017

The marriage between immunology and cytometry is one of the most stable and productive in the recent history of science. A rapid search in PubMed shows that, as of July 2017, using “flow cytometry immunology” as a search term yields more than 68 000 articles, the first of which, interestingly, is not about lymphocytes. It might be stated that, after a short engagement, the exchange of the wedding rings between immunology and cytometry officially occurred when the idea to link fluorochromes to monoclonal antibodies came about. After this, recognizing different types of cells became relatively easy and feasible not only by using a simple fluorescence microscope, but also by a complex and some…

0301 basic medicineT-LymphocytesCell SeparationT cell precursors0302 clinical medicineImmunophenotypingHuman lymphopoiesis[ SDV.IMM ] Life Sciences [q-bio]/ImmunologyImmunology and AllergyNon-U.S. Gov'tImmunologic Techniquemedicine.diagnostic_testResearch Support Non-U.S. Gov'tvirus diseaseshemic and immune systemsFalse Positive ReactionCell sortingFlow Cytometrynatural killer and innate lymphoid cells differentiation3. Good healthResearch Design[SDV.IMM]Life Sciences [q-bio]/ImmunologyHumanQuality Controlmedicine.drug_classImmunologyAnimals; Cell Proliferation; Cell Separation; DNA; False Positive Reactions; Flow Cytometry; Humans; Immunophenotyping; Quality Control; RNA; Research Design; Software; T-Lymphocytes; Guidelines as Topic; Immunologic Techniques; Immunology and Allergy; Immunologychemical and pharmacologic phenomenaGuidelines as TopicComputational biologyBiologyMonoclonal antibodyResearch SupportArticleFlow cytometryImmunophenotypingN.I.H.03 medical and health sciencesImmune systemImmunologic TechniqueResearch Support N.I.H. Extramuralmedicineearly lymphoid progenitorsJournal ArticleAnimalsHumansMass cytometryFalse Positive ReactionsImmunology and Allergy; Immunology; Flow cytometryIMUNOLOGIACell ProliferationAnimalExtramuralB cell ontogenyDNA030104 developmental biologyT-LymphocyteImmunologic TechniquesRNACytometrySoftware030215 immunologyEuropean Journal of Immunology
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