2023
Massively parallel base editing to map variant effects in human hematopoiesis
Martin-Rufino J, Castano N, Pang M, Grody E, Joubran S, Caulier A, Wahlster L, Li T, Qiu X, Riera-Escandell A, Newby G, Al'Khafaji A, Chaudhary S, Black S, Weng C, Munson G, Liu D, Wlodarski M, Sims K, Oakley J, Fasano R, Xavier R, Lander E, Klein D, Sankaran V. Massively parallel base editing to map variant effects in human hematopoiesis. Cell 2023, 186: 2456-2474.e24. PMID: 37137305, PMCID: PMC10225359, DOI: 10.1016/j.cell.2023.03.035.Peer-Reviewed Original ResearchConceptsHuman hematopoiesisVariant effectsNon-coding variantsDisease-Associated VariantsSingle-cell genotypingHuman hematopoietic stemFetal hemoglobin expressionHigh-throughput variantGenome engineeringSequencing readoutHematopoietic differentiationFunctional screenHemoglobin expressionDifferentiation stateDefines mechanismsHematopoietic stemPrimary cellsGenetic variantsProgenitor cellsSpecific mutationsDiverse diseasesHuman physiologyRich phenotypingHematopoiesisImmunotherapy approaches
2019
IL23 induces IL23R recycling and amplifies innate receptor-induced signalling and cytokines in human macrophages, and the IBD-protective IL23R R381Q variant modulates these outcomes
Sun R, Hedl M, Abraham C. IL23 induces IL23R recycling and amplifies innate receptor-induced signalling and cytokines in human macrophages, and the IBD-protective IL23R R381Q variant modulates these outcomes. Gut 2019, 69: 264-273. PMID: 31097538, PMCID: PMC6858485, DOI: 10.1136/gutjnl-2018-316830.Peer-Reviewed Original ResearchConceptsMonocyte-derived macrophagesHuman monocyte-derived macrophagesJanus kinase/signal transducerKinase/signal transducerDynamin-mediated endocytosisReceptor-induced signalingCell surface regulationR381Q variantIBD pathogenesisIntestinal myeloid cellsLate endosomesPattern recognition receptorsSignal transducerPathway membersDefines mechanismsReal-time PCRCell typesHeLa cellsSignalingKey playersRNA expressionHuman macrophagesPathwayWestern blotMyeloid cells
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