2024
Dexamethasone Targets E2F4 to Induce Erythroid Progenitor Renewal
Papoin J, Schulz V, Khan F, Barnes B, Lipton J, Steiner L, Narla M, Gallagher P, Blanc L. Dexamethasone Targets E2F4 to Induce Erythroid Progenitor Renewal. Blood 2024, 144: 1076. DOI: 10.1182/blood-2024-211687.Peer-Reviewed Original ResearchDiamond-Blackfan anemiaCD34+ cellsErythroid progenitorsSteroid responsivenessExpression of E2F4Peripheral bloodBone marrowE2F4 expressionDex treatmentCultured CD34+ cellsInherited bone marrow failure syndromeMechanisms of steroid responseSide effectsBone marrow failure syndromesDiamond-Blackfan anemia patientsBone marrow erythroid progenitorsIncreased expressionMechanisms of corticosteroid actionAssociated with side effectsIncreased risk of infectionMarrow failure syndromesResponse to steroidsGene promoterSerum-free culture systemMarrow erythroid progenitors
2013
The Patient With Transfusion-Dependent Anemia: Diagnosis and Directed Management With Targeted Next Generation Sequencing and Copy Number Analysis
Schulz V, Maksimova Y, Lezon-Geyda K, Gallagher P. The Patient With Transfusion-Dependent Anemia: Diagnosis and Directed Management With Targeted Next Generation Sequencing and Copy Number Analysis. Blood 2013, 122: 3419. DOI: 10.1182/blood.v122.21.3419.3419.Peer-Reviewed Original ResearchTransfusion-dependent anemiaMarrow failure syndromesBone marrow failure syndromesFailure syndromeCongenital dyserythropoietic anemiaBi-allelic mutationsIron overloadHemolytic anemiaGene mutationsNext-generation sequencingDyserythropoietic anemiaComplications of anemiaBone marrow findingsMissense mutationsTargeted Next-Generation SequencingMonths of ageSame clinical phenotypeExpectant managementWorking diagnosisChronic transfusionLiver failureMarrow findingsAppropriate therapyCommon diagnosisImmunodeficiency syndrome