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
1996
A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis.
Jenkins PB, Abou-Alfa GK, Dhermy D, Bursaux E, Féo C, Scarpa AL, Lux SE, Garbarz M, Forget BG, Gallagher PG. A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis. Journal Of Clinical Investigation 1996, 97: 373-380. PMID: 8567957, PMCID: PMC507027, DOI: 10.1172/jci118425.Peer-Reviewed Original ResearchConceptsBand 3 geneCytoplasmic domainNonsense mutationGenomic DNABand 3 cytoplasmic domainErythrocyte band 3 geneErythrocyte membrane mechanical stabilityEntire transmembrane domainBand 3Membrane mechanical stabilityBand 3 proteinTransmembrane domainNucleotide sequenceRT-PCRFamily membersStudy of erythrocytesMRNA accumulationSequence analysisAnion transport studiesBand 3 defectsTypical hereditary spherocytosisHS mutationsReticulocyte RNAUnaffected family membersRNA