2023
3189 – REVISITING THE HEMATOPOIETIC AND ERYTHROPOIETIC DEFECTS IN RPS19 AND RPL5 HAPLOINSUFFICIENCY AT THE DEVELOPMENTAL LEVEL
Tang Y, Ling T, Durand S, Palis J, Steiner L, Mohandas N, Gallagher P, Lipton J, Crispino J, Blanc L. 3189 – REVISITING THE HEMATOPOIETIC AND ERYTHROPOIETIC DEFECTS IN RPS19 AND RPL5 HAPLOINSUFFICIENCY AT THE DEVELOPMENTAL LEVEL. Experimental Hematology 2023, 124: s144. DOI: 10.1016/j.exphem.2023.06.296.Peer-Reviewed Original ResearchRibosomal proteinsDiamond-Blackfan anemiaGlobal protein synthesisTerminal erythroid differentiationStem cell exhaustionHematopoietic stem cell exhaustionKey transcription factorInherited bone marrow failure syndromeFailure of erythropoiesisCell cycle arrestHematopoietic developmentMutant cellsTranscription factorsProgenitor stageCRISPR/Erythroid differentiationVav-iCreMendelian ratioDefective erythropoiesisRPS19Bone marrow failure syndromesLoxP sitesProtein synthesisBone marrow failureHematopoietic 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