2024
Genetic mapping across autoimmune diseases reveals shared associations and mechanisms
Lincoln M, Connally N, Axisa P, Gasperi C, Mitrovic M, van Heel D, Wijmenga C, Withoff S, Jonkers I, Padyukov L, Rich S, Graham R, Gaffney P, Langefeld C, Vyse T, Hafler D, Chun S, Sunyaev S, Cotsapas C. Genetic mapping across autoimmune diseases reveals shared associations and mechanisms. Nature Genetics 2024, 56: 838-845. PMID: 38741015, DOI: 10.1038/s41588-024-01732-8.Peer-Reviewed Original ResearchConceptsGenetic mapResolution of genetic mappingExpression quantitative trait lociFine-mapping resolutionQuantitative trait lociGenomic lociTrait lociPolygenic disorderAllelesRisk allelesLociPathogenic mechanismsImmune systemAutoimmune mechanismsAutoimmune diseasesInflammatory diseasesTraitsMechanismDiseaseSample collectionExpression
2014
Monoallelic expression of the human FOXP2 speech gene
Adegbola AA, Cox GF, Bradshaw EM, Hafler DA, Gimelbrant A, Chess A. Monoallelic expression of the human FOXP2 speech gene. Proceedings Of The National Academy Of Sciences Of The United States Of America 2014, 112: 6848-6854. PMID: 25422445, PMCID: PMC4460484, DOI: 10.1073/pnas.1411270111.Peer-Reviewed Original ResearchMeSH KeywordsApraxiasComparative Genomic HybridizationFemaleForkhead Transcription FactorsGene Expression ProfilingGene Expression Regulation, DevelopmentalGenes, X-LinkedHumansPolymorphism, Single NucleotideReverse Transcriptase Polymerase Chain ReactionSequence Analysis, DNASequence DeletionSpeechX Chromosome InactivationConceptsRandom monoallelic expressionMonoallelic expressionAllele-specific expressionNumber of genesHuman Mendelian disordersForkhead box P2 (FOXP2) geneP2 geneAutosomal genesMore genesAutosomal genomeX chromosomeGene expressionHaploinsufficiency phenotypeMendelian disordersGenesDevelopmental verbal dyspraxiaFOXP2 mutationsIntriguing possibilityFOXP2 geneExpressionRecent descriptionMutationsVerbal dyspraxiaAutosomesGenome
2008
TIM-4 Expressed on APCs Induces T Cell Expansion and Survival
Rodriguez-Manzanet R, Meyers JH, Balasubramanian S, Slavik J, Kassam N, Dardalhon V, Greenfield EA, Anderson AC, Sobel RA, Hafler DA, Strom TB, Kuchroo VK. TIM-4 Expressed on APCs Induces T Cell Expansion and Survival. The Journal Of Immunology 2008, 180: 4706-4713. PMID: 18354194, PMCID: PMC2948965, DOI: 10.4049/jimmunol.180.7.4706.Peer-Reviewed Original Research
2007
A Genome-wide Screen for Genetic Variants Affecting the Expression of Immunologically Relevant Cell Surface Markers
De Jager P, Yelensky R, Rossin E, Bonadkar S, Choy E, Daly M, Altshuler D, Hafler D. A Genome-wide Screen for Genetic Variants Affecting the Expression of Immunologically Relevant Cell Surface Markers. Clinical Immunology 2007, 123: s153. DOI: 10.1016/j.clim.2007.03.076.Peer-Reviewed Original Research
2006
The Purification and Functional Analysis of Human CD4+CD25high Regulatory T Cells
Baecher-Allan C, Hafler DA. The Purification and Functional Analysis of Human CD4+CD25high Regulatory T Cells. Current Protocols In Immunology 2006, 72: 7.4b.1-7.4b.12. PMID: 18432975, DOI: 10.1002/0471142735.im0704bs72.Peer-Reviewed Original ResearchConceptsRegulatory T cellsCD4 T cellsT cellsHuman regulatory T cellsHuman CD4 T cellsLevels of CD25Suppressive featuresCD25Coculture assaysVitro proliferationHigh expressionVivo developmentEndogenous expressionSuch cellsCellsSmall percentageMouse cellsHigh levelsAutoimmunityHumansExpressionMiceBlood
1997
Expression of a hypoglycosylated form of CD86 (B7-2) on human T cells with altered binding properties to CD28 and CTLA-4.
Höllsberg P, Scholz C, Anderson DE, Greenfield EA, Kuchroo VK, Freeman GJ, Hafler DA. Expression of a hypoglycosylated form of CD86 (B7-2) on human T cells with altered binding properties to CD28 and CTLA-4. The Journal Of Immunology 1997, 159: 4799-805. PMID: 9366404, DOI: 10.4049/jimmunol.159.10.4799.Peer-Reviewed Original ResearchMeSH KeywordsAbataceptAnimalsAntibodies, MonoclonalAntigens, CDAntigens, DifferentiationB7-2 AntigenCD28 AntigensCD3 ComplexCD4-Positive T-LymphocytesCell Line, TransformedCHO CellsClone CellsCricetinaeCTLA-4 AntigenGlycosylationHumansImmunoconjugatesLymphocyte ActivationMembrane GlycoproteinsProtein BindingT-Lymphocyte SubsetsConceptsPost-translational modificationsCell type-specific post-translational modificationsHuman T cellsDifferent cell typesMajor costimulatory signalChinese hamster ovary cellsHamster ovary cellsCell clonesFusion proteinCostimulatory signalsCell typesT cell activationFunctional significanceOvary cellsBiochemical analysisSurface membraneCostimulatory functionDetectable bindingExpressionT cellsClonesCell activationCTLA-4-Ig fusion proteinCellsCell expression
1989
Lymphokine regulation of CD45R expression on human T cell clones.
Brod SA, Rudd CE, Purvee M, Hafler DA. Lymphokine regulation of CD45R expression on human T cell clones. Journal Of Experimental Medicine 1989, 170: 2147-2152. PMID: 2531196, PMCID: PMC2189525, DOI: 10.1084/jem.170.6.2147.Peer-Reviewed Original ResearchConceptsHigh molecular weight isoformsMolecular weight isoformsSingle cell cloningDifferent lineagesCell lineagesCell clonesT-cell lineageWeight isoformsCell cloningHuman T cellsActivated T cellsLineagesExpressionDifferential pathwaysCytokines IL-1IsoformsClonesT cellsCellsRegulationLymphokine regulationCell expressionT cell clonesIL-1Cloning