Featured Publications
How do messenger RNA splicing alterations drive myelodysplasia?
Joshi P, Halene S, Abdel-Wahab O. How do messenger RNA splicing alterations drive myelodysplasia? Blood 2017, 129: 2465-2470. PMID: 28348147, PMCID: PMC5418633, DOI: 10.1182/blood-2017-02-692715.Commentaries, Editorials and Letters
2022
Targeting the EIF2AK1 signaling pathway rescues red blood cell production in SF3B1-mutant myelodysplastic syndromes with ringed sideroblasts
Adema V, Ma F, Kanagal-Shamanna R, Thongon N, Montalban-Bravo G, Yang H, Peslak SA, Wang F, Acha P, Sole F, Lockyer P, Cassari M, Maciejewski JP, Visconte V, Ganan-Gomez I, Song Y, Bueso-Ramos C, Pellegrini M, Tan TM, Bejar R, Carew JS, Halene S, Santini V, Al-Atrash G, Clise-Dwyer K, Garcia-Manero G, Blobel GA, Colla S. Targeting the EIF2AK1 signaling pathway rescues red blood cell production in SF3B1-mutant myelodysplastic syndromes with ringed sideroblasts. Blood Cancer Discovery 2022, 3: 554-567. PMID: 35926182, PMCID: PMC9894566, DOI: 10.1158/2643-3230.bcd-21-0220.Peer-Reviewed Original ResearchMeSH KeywordsAgedEIF-2 KinaseErythroid Precursor CellsHumansMyelodysplastic SyndromesPhosphoproteinsRNA Splicing FactorsSignal TransductionConceptsMyelodysplastic syndromeRed blood cell productionSF3B1-mutant myelodysplastic syndromesMDS-RSRinged sideroblastsBlood cell productionSF3B1 mutationsDevelopment of therapiesCell productionRed blood cellsRed blood cell maturationHematologic responseSignificant anemiaTransfusion dependencyIron overloadMDS subtypesElderly populationSide effectsBone marrowCell maturationIssue featurePatientsBlood cellsErythroid precursorsBlood cell maturation
2020
Single-cell genomics reveals the genetic and molecular bases for escape from mutational epistasis in myeloid neoplasms
Taylor J, Mi X, North K, Binder M, Penson A, Lasho T, Knorr K, Haddadin M, Liu B, Pangallo J, Benbarche S, Wiseman D, Tefferi A, Halene S, Liang Y, Patnaik MM, Bradley RK, Abdel-Wahab O. Single-cell genomics reveals the genetic and molecular bases for escape from mutational epistasis in myeloid neoplasms. Blood 2020, 136: 1477-1486. PMID: 32640014, PMCID: PMC7515689, DOI: 10.1182/blood.2020006868.Peer-Reviewed Original ResearchConceptsHematologic malignanciesMyeloid neoplasmsFactor mutationsSplicing factor mutationsRare amino acid substitutionsCommon allelesMyeloid malignanciesPatientsU2AF1 mutationsCommon alterationsMalignancyHigh-frequency mutationsNeoplasmsMolecular effectsSame individual cellsWild-type alleleK700E mutationDistribution of mutationsAmino acid substitutionsMutationsDouble mutationAllele-specific differencesAlleles