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
2000
Gene transfer to ankyrin-deficient bone marrow corrects spherocytosis in vitro
Dooner G, Barker J, Gallagher P, Debatis M, Brown A, Forget B, Becker P. Gene transfer to ankyrin-deficient bone marrow corrects spherocytosis in vitro. Experimental Hematology 2000, 28: 765-774. PMID: 10907638, DOI: 10.1016/s0301-472x(00)00185-5.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAnkyrinsBlotting, WesternBone MarrowCell LineElectrophoresis, Polyacrylamide GelErythropoietinGene Transfer TechniquesGenetic TherapyHematopoietic Stem CellsHumansIn Vitro TechniquesMiceMice, Inbred BALB CRetroviridaeReverse Transcriptase Polymerase Chain ReactionSpherocytosis, HereditaryConceptsMEL cellsAnkyrin promoterGene transferDependence of expressionMurine bone marrow cellsMurine erythroleukemia cellsNormal murine bone marrow cellsRetroviral vectorsNbs mutantsMutant bone marrowMurine 3T3 fibroblastsNB cellsAnkyrin proteinsMutant cellsPolymerase chain reactionErythroid differentiation culturesHuman hemolytic anemiasColony polymerase chain reactionRT-PCRErythroid expressionBone marrow progenitorsErythroleukemia cellsDifferentiation culturesAnkyrinWestern blot analysis