2013
Clinical relevance and functional consequences of the TNFRSF1A multiple sclerosis locus
Ottoboni L, Frohlich IY, Lee M, Healy BC, Keenan BT, Xia Z, Chitnis T, Guttmann CR, Khoury SJ, Weiner HL, Hafler DA, De Jager PL. Clinical relevance and functional consequences of the TNFRSF1A multiple sclerosis locus. Neurology 2013, 81: 1891-1899. PMID: 24174586, PMCID: PMC3843384, DOI: 10.1212/01.wnl.0000436612.66328.8a.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsArginineChemokine CXCL10FemaleGene Expression RegulationGenetic Predisposition to DiseaseGenotypeGlutamineHEK293 CellsHumansImmunologic FactorsLongitudinal StudiesMaleMonocytesMultiple SclerosisMutationPhorbol EstersReceptors, Tumor Necrosis Factor, Type IRNA IsoformsSignal TransductionTumor Necrosis Factor-alphaConceptsTNFRSF1A locusSusceptibility allelesFunctional consequencesRobust transcriptional responseTranscriptional responseCytoplasmic domainRNA isoformsTNF-α stimulationRho GTPaseMS susceptibility genesMS geneG proteinsSusceptibility genesMolecular levelTNF pathwayGenesAltered expressionLociTNF-α pathwayAllelesRisk allelesPathwayGTPaseImmune functionTransmembrane
2012
Immune-mediated disease genetics: the shared basis of pathogenesis
Cotsapas C, Hafler DA. Immune-mediated disease genetics: the shared basis of pathogenesis. Trends In Immunology 2012, 34: 22-26. PMID: 23031829, DOI: 10.1016/j.it.2012.09.001.Peer-Reviewed Original ResearchConceptsRecent genetic studiesGenomic lociDisease geneticsMolecular basisGenetic studiesMolecular causesMolecular defectsRisk variantsSpecific pathwaysBasis of pathogenesisActionable discoveriesGeneticsInflammatory diseasesOverall symptomatologyDisease heterogeneityLociVariantsDiseasePathwayPathogenesisHigh rateRational approachDiscoveryPathobiology
2009
Autoimmunity risk alleles in costimulation pathways
Maier LM, Hafler DA. Autoimmunity risk alleles in costimulation pathways. Immunological Reviews 2009, 229: 322-336. PMID: 19426231, DOI: 10.1111/j.1600-065x.2009.00777.x.Peer-Reviewed Original ResearchConceptsTumor necrosis factorGenome-wide association scansHuman autoimmune diseasesAutoimmune diseasesCommon human autoimmune diseasesInducible T-cell costimulator ligandGenetic study designsAssociation scanImmune related genesRelated genesCytotoxic T-lymphocyte antigen-4T-lymphocyte antigen-4Common autoimmune diseaseCell death 1Allelic variantsMember 15Environmental risk factorsDrug designCostimulatory mechanismsMember 4PathwayGenesCostimulation pathwayDeath-1Common pathway
1999
The B7–CD28/CTLA-4 costimulatory pathways in autoimmune disease of the central nervous system
Anderson D, Sharpe A, Hafler D. The B7–CD28/CTLA-4 costimulatory pathways in autoimmune disease of the central nervous system. Current Opinion In Immunology 1999, 11: 677-683. PMID: 10631554, DOI: 10.1016/s0952-7915(99)00036-9.Peer-Reviewed Original ResearchConceptsSelf-reactive T cellsB7-CD28/CTLAAutoimmune diseasesT cellsTh1/Th2 cell differentiationB7-CD28 costimulationHuman autoimmune diseasesCentral nervous systemTh2 cell differentiationCostimulatory pathwayEffector phaseCTLA-4Nervous systemCritical roleDiseaseCTLARecent studiesCell differentiationCellsPast yearPathwayAutoimmunityCD28InitiationCostimulation
1987
Phosphorylation of CD4 and CD8 molecules following T cell triggering.
Blue ML, Hafler DA, Craig KA, Levine H, Schlossman SF. Phosphorylation of CD4 and CD8 molecules following T cell triggering. The Journal Of Immunology 1987, 139: 3949-54. PMID: 2961801, DOI: 10.4049/jimmunol.139.12.3949.Peer-Reviewed Original ResearchConceptsCell receptor complexCD3-T cell receptor complexT cell triggeringReceptor complexPhorbol myristate acetate (PMA) treatmentMolecular signaling mechanismsDifferent receptor pathwaysErythrocyte binding proteinCD8 moleculesSignaling mechanismBinding proteinPhosphorylationCell triggeringT cell activationCD2 pathwayT cellsReceptor pathwayMolecular modificationsT cell clonesCell activationCell clonesPathwayActivationCD4Cells