2012
Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis
Zarychanski R, Schulz VP, Houston BL, Maksimova Y, Houston DS, Smith B, Rinehart J, Gallagher PG. Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. Blood 2012, 120: 1908-1915. PMID: 22529292, PMCID: PMC3448561, DOI: 10.1182/blood-2012-04-422253.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnemia, Hemolytic, CongenitalBase SequenceDNA Mutational AnalysisErythroid CellsExomeFamily HealthFemaleGene ExpressionGenetic Predisposition to DiseaseGenotypeHumansHydrops FetalisIon ChannelsMaleMass SpectrometryMechanotransduction, CellularMolecular Sequence DataMutationPedigreeProteomicsReverse Transcriptase Polymerase Chain ReactionConceptsPiezo proteinsErythrocyte volume homeostasisAutosomal dominant hemolytic anemiaHereditary xerocytosisPiezo familyMammalian cellsTransduction channelsCell mRNADiscovery proteomicsPIEZO1 mutationsGenetic diseasesSegregation analysisDisease phenotypeMutationsLinkage studiesHuman erythrocyte membranesProteinExome sequencingNumber analysisNovel mutationsPiezo1DNA levelsXerocytosisFirst reportVolume homeostasisAltered subcellular localization of transcription factor TEAD4 regulates first mammalian cell lineage commitment
Home P, Saha B, Ray S, Dutta D, Gunewardena S, Yoo B, Pal A, Vivian JL, Larson M, Petroff M, Gallagher PG, Schulz VP, White KL, Golos TG, Behr B, Paul S. Altered subcellular localization of transcription factor TEAD4 regulates first mammalian cell lineage commitment. Proceedings Of The National Academy Of Sciences Of The United States Of America 2012, 109: 7362-7367. PMID: 22529382, PMCID: PMC3358889, DOI: 10.1073/pnas.1201595109.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBlastocystBlastocyst Inner Cell MassBlastomeresBlotting, WesternCattleCDX2 Transcription FactorCell LineageCell NucleusCells, CulturedDNA-Binding ProteinsEmbryonic Stem CellsGATA3 Transcription FactorGene Expression Regulation, DevelopmentalGreen Fluorescent ProteinsHEK293 CellsHomeodomain ProteinsHumansMacaca mulattaMiceMice, TransgenicMuscle ProteinsRatsReverse Transcriptase Polymerase Chain ReactionRNA InterferenceTEA Domain Transcription FactorsTranscription FactorsConceptsInner cell massTranscriptional programsICM lineagesSubcellular localizationNuclear localizationInner blastomeresCell fate specificationSpecific transcriptional programsCell lineage commitmentAltered subcellular localizationTranscription factor TEAD4Preimplantation mouse embryosFate specificationLineage commitmentTarget genesMouse embryosCell lineagesTEAD4LineagesBlastomeresBlastocyst formationCell massDifferential functionGenesLocalization
2005
Multiple isoforms of the KC1 cotransporter are expressed in sickle and normal erythroid cells
Crable SC, Hammond SM, Papes R, Rettig RK, Zhou GP, Gallagher PG, Joiner CH, Anderson KP. Multiple isoforms of the KC1 cotransporter are expressed in sickle and normal erythroid cells. Experimental Hematology 2005, 33: 624-631. PMID: 15911086, DOI: 10.1016/j.exphem.2005.02.006.Peer-Reviewed Original ResearchMeSH KeywordsAnemia, Sickle CellCells, CulturedErythrocytesHumansProtein IsoformsReverse Transcriptase Polymerase Chain ReactionRNA SplicingRNA, MessengerSymportersConceptsErythroid cellsKCC isoformsMultiple isoformsSplicing variantsStructure/function studiesKCl cotransporterWild-type cellsHuman erythroid cellsDifferentiated erythroid precursorsCl-dependent K fluxTransient transfection experimentsNormal erythroid cellsIsoform expression patternCotransporter activityRed cellsKCC genesExpression patternsReticulocyte maturationHuman red cellsKCC1 geneTransfection experimentsReverse transcriptase-PCRSplice variantsRelative abundanceGenes
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