2017
Disorders of erythrocyte hydration
Gallagher PG. Disorders of erythrocyte hydration. Blood 2017, 130: 2699-2708. PMID: 29051181, PMCID: PMC5746162, DOI: 10.1182/blood-2017-04-590810.Peer-Reviewed Original ResearchConceptsCassette family memberErythrocyte volume homeostasisCellular dehydrationNetwork of pathwaysErythrocyte hydrationMechanosensory proteinsRed blood cell functionVolume homeostasisGlucose transporterNew therapeutic targetsOsmotic perturbationSickle cell diseaseGenetic heterogeneityBlood cell functionCell functionCell hemoglobin concentrationAnion transportersClinical complicationsProteinTherapeutic targetTransportersPrimary disorderCell diseaseHomeostasisSecondary disordersNovel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis
Glogowska E, Schneider ER, Maksimova Y, Schulz VP, Lezon-Geyda K, Wu J, Radhakrishnan K, Keel SB, Mahoney D, Freidmann AM, Altura RA, Gracheva EO, Bagriantsev SN, Kalfa TA, Gallagher PG. Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis. Blood 2017, 130: 1845-1856. PMID: 28716860, PMCID: PMC5649553, DOI: 10.1182/blood-2017-05-786004.Peer-Reviewed Original ResearchConceptsHereditary xerocytosisMembrane protein traffickingNext-generation sequencing-based techniquesSequencing-based techniquesMembrane protein expressionProtein traffickingFunction phenotypesCell biologyOsmotic stressWild typePIEZO1 variantsFunctional assaysNovel mechanismGenetic heterogeneityMutationsProtein expressionErythrocyte hydrationXerocytosisVivo systemTraffickingPartial gainPhenotypeChannel inactivationCation permeabilityCongenital hemolytic anemia
2015
Diagnosis and management of rare congenital nonimmune hemolytic disease.
Gallagher PG. Diagnosis and management of rare congenital nonimmune hemolytic disease. Hematology 2015, 2015: 392-9. PMID: 26637748, DOI: 10.1182/asheducation-2015.1.392.Peer-Reviewed Original ResearchConceptsErythrocyte hydrationHemolytic diseaseErythrocyte metabolismGroup of disordersEpisodic hemolysisLaboratory manifestationsPathophysiologic mechanismsClinical findingsHemolytic anemiaChronic hemolysisHemolytic disordersImportant causeDiseaseHeterogeneous groupDisordersAnemiaErythrocyte structureAbnormalitiesHemoglobin stabilityPathway leadUnstable hemoglobinopathiesMetabolismManagement considerationsUnstable hemoglobinHemolysis
2013
Disorders of red cell volume regulation
Gallagher PG. Disorders of red cell volume regulation. Current Opinion In Hematology 2013, 20: 201-207. PMID: 23519154, DOI: 10.1097/moh.0b013e32835f6870.Peer-Reviewed Original ResearchConceptsVolume regulationCassette family memberErythrocyte volume homeostasisErythrocyte hydrationCell volume regulationMechanosensory proteinsGenetic basisSolute homeostasisMechanotransduction pathwaysGlucose transporterNew therapeutic targetsErythrocyte volume regulationNovel mechanismCellular waterCellular dehydrationRecent insightsCellular volumeHomeostasisRegulationAnion transportersTherapeutic targetTransportersPathwayVolume homeostasisRecent studies
2010
Determinants of erythrocyte hydration
Rinehart J, Gulcicek EE, Joiner CH, Lifton RP, Gallagher PG. Determinants of erythrocyte hydration. Current Opinion In Hematology 2010, 17: 191-197. PMID: 20182354, PMCID: PMC4155397, DOI: 10.1097/moh.0b013e32833800d0.Peer-Reviewed Original ResearchConceptsSickle cell diseaseErythrocyte hydrationCell diseaseNew therapeutic targetsGardos channel activationClinical complicationsPrimary disorderSecondary disordersTherapeutic targetErythrocyte dehydrationDisease preventionRelated disordersSolute homeostasisBiologic studiesDisordersChannel activationKCl cotransportDiseaseErythrocyte waterHomeostasisErythrocytesAnion transportersPremature destructionRecent studiesComplications
2007
Regulators of Erythrocyte Volume as Modifiers in Sickle Cell Disease: The Gardos Channel.
Tian C, Okam M, Alper S, Steinberg M, Brugnara C, Gallagher P. Regulators of Erythrocyte Volume as Modifiers in Sickle Cell Disease: The Gardos Channel. Blood 2007, 110: 3387. DOI: 10.1182/blood.v110.11.3387.3387.Peer-Reviewed Original ResearchModifier genesMissense mutationsChannel genesSequence analysisErythrocyte hydrationSmaller mRNA speciesGenetic variantsReverse transcription-PCR analysisNucleotide sequence analysisBand 3Disease-associated mutationsCore promoter regionFunction of transportersBand 3 geneAquaporin-1 geneAberrant mRNAsSmaller transcriptMRNA speciesIdentification of targetsAquaporin 3 genePromoter regionSplice junctionsChannel proteinsChannel mRNARegion exons