2024
Splicing the Difference: Harnessing the Complexity of the Transcriptome in Hematopoiesis
Maul-Newby H, Halene S. Splicing the Difference: Harnessing the Complexity of the Transcriptome in Hematopoiesis. Experimental Hematology 2024, 140: 104655. PMID: 39393608, DOI: 10.1016/j.exphem.2024.104655.Peer-Reviewed Original ResearchAlternative splicingAlternative splicing eventsStem cell maintenanceSplicing factor mutationsHematopoietic stem cell maintenanceExpression of beta-globinField of stem cell researchSplicing eventsSplicing factorsFunctional blood cellsAberrant splicingStudy of hematopoiesisComplex regulationCell maintenanceSplicingCellular differentiationBeta-globinMyelodysplastic syndromeMyeloid malignanciesHematologic malignanciesStem cell researchCell sortingMutationsTranscriptomeAberrant expression
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