2020
Characterization of circulating and cultured Tfh-like cells in sickle cell disease in relation to red blood cell alloimmunization status
Balbuena-Merle R, Santhanakrishnan M, Devine L, Gibb DR, Tormey CA, Siddon AJ, Curtis SA, Gallagher PG, Weinstein JS, Hendrickson JE. Characterization of circulating and cultured Tfh-like cells in sickle cell disease in relation to red blood cell alloimmunization status. Transfusion And Apheresis Science 2020, 59: 102778. PMID: 32439490, PMCID: PMC7483805, DOI: 10.1016/j.transci.2020.102778.Peer-Reviewed Original ResearchConceptsTfh-like cellsNaïve CD4 T cellsSickle cell diseaseCD4 T cellsCD4 T cell subsetsT cell subsetsT cellsCell diseaseRed blood cell alloimmunizationPeripheral blood mononuclear cellsBlood mononuclear cellsCD3/CD28Electronic medical recordsAlloimmunization statusHLA alloantibodiesRBC autoantibodiesRBC alloantibodiesFollicular helperIL-12Mononuclear cellsMedical recordsIL-7Antigen specificityB cellsAlloantibodiesGenotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency
Bianchi P, Fermo E, Lezon‐Geyda K, van Beers E, Morton HD, Barcellini W, Glader B, Chonat S, Ravindranath Y, Newburger PE, Kollmar N, Despotovic JM, Verhovsek M, Sharma M, Kwiatkowski JL, Kuo KHM, Wlodarski MW, Yaish HM, Holzhauer S, Wang H, Kunz J, Addonizio K, Al‐Sayegh H, London WB, Andres O, van Wijk R, Gallagher PG, Grace RFF. Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. American Journal Of Hematology 2020, 95: 472-482. PMID: 32043619, PMCID: PMC8127999, DOI: 10.1002/ajh.25753.Peer-Reviewed Original ResearchConceptsNon-missense mutationsPyruvate kinase deficiencyRare severe complicationsFrequency of complicationsLower extremity ulcerationsLower hemoglobin levelsKinase deficiencyNatural history studiesDifferent pathogenic variantsTerms of hemoglobinCongenital hemolytic anemiaGenotype-phenotype correlationLifetime transfusionsDeficient womenPregnancy outcomesPulmonary hypertensionSevere complicationsSplenectomy statusHemoglobin levelsHepatic failureNewborn periodClinical similaritiesWide genetic heterogeneityIron overloadHemolytic anemia
2018
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study
Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospíšilová D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood 2018, 131: 2183-2192. PMID: 29549173, DOI: 10.1182/blood-2017-10-810796.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAnemia, Hemolytic, Congenital NonspherocyticBlood TransfusionChildChild, PreschoolCholecystectomyCombined Modality TherapyEnzyme ActivationFemaleGenetic Association StudiesGenotypeHumansInfantInfant, NewbornMaleMiddle AgedMutationPhenotypePyruvate KinasePyruvate Metabolism, Inborn ErrorsSplenectomySymptom AssessmentTreatment OutcomeYoung AdultConceptsIron overloadHemolytic anemiaPyruvate kinase deficiencyChildren age 5 yearsProspective clinical dataPK deficiencySeverity of anemiaKinase deficiencyNatural history studiesAge 5 yearsCongenital nonspherocytic hemolytic anemiaCongenital hemolytic anemiaBaseline hemoglobinPostsplenectomy thrombosisMulticenter registryPostsplenectomy sepsisPulmonary hypertensionSimultaneous cholecystectomyFrequent complicationPerinatal complicationsTransfusion burdenAplastic crisisExchange transfusionLeg ulcersRadiologic data
2017
Novel 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
2016
Adult human megakaryocyte-erythroid progenitors are in the CD34+CD38mid fraction
Sanada C, Xavier-Ferrucio J, Lu YC, Min E, Zhang PX, Zou S, Kang E, Zhang M, Zerafati G, Gallagher PG, Krause DS. Adult human megakaryocyte-erythroid progenitors are in the CD34+CD38mid fraction. Blood 2016, 128: 923-933. PMID: 27268089, PMCID: PMC4990855, DOI: 10.1182/blood-2016-01-693705.Peer-Reviewed Original ResearchConceptsMegakaryocyte/erythroid progenitorsComparative expression analysisNovel enrichment strategyMegakaryocyte-erythroid progenitorsPurification strategySingle-cell levelShort hairpin RNAFate decisionsE lineageNovel purification strategyLineage fateLineage commitmentGranulocyte colony-stimulating factor-mobilized peripheral bloodMK lineageExpression analysisE progenitorsErythroid lineageFactor-mobilized peripheral bloodDifferential expressionES cellsErythroid progenitorsMYB knockdownHairpin RNALineagesColony-forming units
2015
Pomalidomide reverses γ-globin silencing through the transcriptional reprogramming of adult hematopoietic progenitors
Dulmovits BM, Appiah-Kubi AO, Papoin J, Hale J, He M, Al-Abed Y, Didier S, Gould M, Husain-Krautter S, Singh SA, Chan KW, Vlachos A, Allen SL, Taylor N, Marambaud P, An X, Gallagher PG, Mohandas N, Lipton JM, Liu JM, Blanc L. Pomalidomide reverses γ-globin silencing through the transcriptional reprogramming of adult hematopoietic progenitors. Blood 2015, 127: 1481-1492. PMID: 26679864, PMCID: PMC4797024, DOI: 10.1182/blood-2015-09-667923.Peer-Reviewed Original ResearchMeSH KeywordsAdultAnemia, Sickle CellBeta-GlobinsCarrier ProteinsErythroid Precursor CellsErythropoiesisFetal HemoglobinGamma-GlobinsGene Expression Regulation, DevelopmentalGenetic VectorsHematopoietic Stem CellsHistone DemethylasesHumansIkaros Transcription FactorKruppel-Like Transcription FactorsLentivirusMultiple MyelomaNeoplasm ProteinsNuclear ProteinsProteasome Endopeptidase ComplexRepressor ProteinsRNA InterferenceRNA, Small InterferingSOXD Transcription FactorsThalidomideTranscription, GeneticConceptsSickle cell anemiaCell anemiaΓ-globinThird-generation immunomodulatory drugAdult human erythroblastsMultiple myeloma patientsHematopoietic progenitorsΓ-globin levelsΓ-globin repressionCurrent therapeutic strategiesErythroid differentiation programFetal hemoglobinAdult hematopoietic progenitorsPomalidomide treatmentImmunomodulatory drugsMyeloma patientsTranscriptional reprogrammingFetal hemoglobin productionTranscription networksTherapeutic strategiesDifferentiation programPomalidomideHuman erythroblastsΒ-hemoglobinopathiesGenetic ablationDiagnosis 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 hemoglobinHemolysisCASE 5—2016Complex Congenital Cardiac Surgery in an Adult Patient With Hereditary Spherocytosis: Avoidance of Massive Hemolysis Associated With Extracorporeal Circulation in the Presence of Red Blood Cell Fragility
Hargrave JM, Capdeville MJ, Duncan AE, Smith MM, Mauermann WJ, Gallagher PG. CASE 5—2016Complex Congenital Cardiac Surgery in an Adult Patient With Hereditary Spherocytosis: Avoidance of Massive Hemolysis Associated With Extracorporeal Circulation in the Presence of Red Blood Cell Fragility. Journal Of Cardiothoracic And Vascular Anesthesia 2015, 30: 800-808. PMID: 27021177, DOI: 10.1053/j.jvca.2015.11.016.Peer-Reviewed Original Research
2014
One size does not fit all: why universal decolonization strategies to prevent methicillin-resistant Staphylococcus aureus colonization and infection in adult intensive care units may be inappropriate for neonatal intensive care units
Nelson MU, Bizzarro MJ, Dembry LM, Baltimore RS, Gallagher PG. One size does not fit all: why universal decolonization strategies to prevent methicillin-resistant Staphylococcus aureus colonization and infection in adult intensive care units may be inappropriate for neonatal intensive care units. Journal Of Perinatology 2014, 34: 653-655. PMID: 25010223, PMCID: PMC4152419, DOI: 10.1038/jp.2014.125.Peer-Reviewed Original ResearchConceptsNeonatal intensive care unitIntensive care unitAdult intensive care unitsCare unitUniversal decolonizationMethicillin-resistant Staphylococcus aureus (MRSA) colonizationMRSA-positive clinical cultureUnique patient populationLarge multicenter trialsStaphylococcus aureus colonizationLong-term safetyMupirocin applicationAdverse eventsPreterm infantsLarge multicenterMulticenter trialPatient populationAureus colonizationDecolonization strategiesClinical culturesDisease controlHealthcare ResearchTrialsTrial methodsWidespread implementation
2013
Fetal hemoglobin in sickle cell anemia: Genetic studies of the Arab-Indian haplotype
Ngo D, Bae H, Steinberg MH, Sebastiani P, Solovieff N, Baldwin CT, Melista E, Safaya S, Farrer LA, Al-Suliman AM, Albuali WH, Bagshi M, Naserullah Z, Akinsheye I, Gallagher P, Luo HY, Chui DH, Farrell JJ, Al-Ali AK, Alsultan A. Fetal hemoglobin in sickle cell anemia: Genetic studies of the Arab-Indian haplotype. Blood Cells Molecules And Diseases 2013, 51: 22-26. PMID: 23465615, PMCID: PMC3647015, DOI: 10.1016/j.bcmd.2012.12.005.Peer-Reviewed Original ResearchAdolescentAdultAllelesAnemia, Sickle CellArabsBeta-GlobinsCarrier ProteinsChildChild, PreschoolFetal HemoglobinGenes, mybGTP-Binding ProteinsHaplotypesHemoglobin, SickleHomeodomain ProteinsHSP70 Heat-Shock ProteinsHumansKruppel-Like Transcription FactorsLocus Control RegionMiddle AgedMutationNuclear ProteinsPeptide Elongation FactorsPolymorphism, GeneticPromoter Regions, GeneticRepressor ProteinsSequence Analysis, DNATranscription FactorsYoung Adult
2011
A de novo band 3 mutation in hereditary spherocytosis
Bogardus HH, Maksimova YD, Forget BG, Gallagher PG. A de novo band 3 mutation in hereditary spherocytosis. Pediatric Blood & Cancer 2011, 58: 1004-1004. PMID: 22170767, DOI: 10.1002/pbc.23400.Peer-Reviewed Original ResearchGenetic diagnosis of neuroacanthocytosis disorders using exome sequencing
Walker RH, Schulz VP, Tikhonova IR, Mahajan MC, Mane S, Muniz M, Gallagher PG. Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing. Movement Disorders 2011, 27: 539-543. PMID: 22038564, DOI: 10.1002/mds.24020.Peer-Reviewed Original ResearchRefinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred
Houston BL, Zelinski T, Israels SJ, Coghlan G, Chodirker BN, Gallagher PG, Houston DS, Zarychanski R. Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred. Blood Cells Molecules And Diseases 2011, 47: 226-231. PMID: 21944700, DOI: 10.1016/j.bcmd.2011.08.001.Peer-Reviewed Original ResearchConceptsNormal hemoglobin levelsLarge CanadianProgressive iron loadingRed cell hemolysisCausative genetic mutationsHemoglobin levelsIndirect hyperbilirubinemiaAffected family membersClinical hallmarkHereditary xerocytosisMorphologic evaluationHemolytic processChromosome 16qTarget cellsOsmotic fragilityPhenotypic findingsGenetic mutationsDisease phenotypeCell hemolysisIron loadingFamily membersMode of inheritanceHemolysisHeterogeneous conditionCholelithiasis
2003
Altered erythrocyte endothelial adherence and membrane phospholipid asymmetry in hereditary hydrocytosis
Gallagher PG, Chang SH, Rettig MP, Neely JE, Hillery CA, Smith BD, Low PS. Altered erythrocyte endothelial adherence and membrane phospholipid asymmetry in hereditary hydrocytosis. Blood 2003, 101: 4625-4627. PMID: 12560240, DOI: 10.1182/blood-2001-12-0329.Peer-Reviewed Original ResearchConceptsMechanism of thrombosisErythrocyte filtration rateSickle cell diseaseAdherence of erythrocytesMembrane phospholipid asymmetryAdhesion of erythrocytesFiltration rateHealthy controlsCell diseaseUncommon variantEndothelial adherenceMild increaseThrombosisPatientsEndothelial monolayersPhosphatidylserine exposureErythrocytesPhospholipid asymmetryAdherenceHereditary stomatocytosisDisease
2001
Three‐dimensional sonographic imaging of a highly developed fetus in fetu with spontaneous movement of the extremities.
Jones DC, Reyes-Múgica M, Gallagher PG, Fricks P, Touloukian RJ, Copel JA. Three‐dimensional sonographic imaging of a highly developed fetus in fetu with spontaneous movement of the extremities. Journal Of Ultrasound In Medicine 2001, 20: 1357-1363. PMID: 11762548, DOI: 10.7863/jum.2001.20.12.1357.Peer-Reviewed Original Research
1997
Spectrin St Claude, a Splicing Mutation of the Human α-Spectrin Gene Associated With Severe Poikilocytic Anemia
Fournier C, Nicolas G, Gallagher P, Dhermy D, Grandchamp B, Lecomte M. Spectrin St Claude, a Splicing Mutation of the Human α-Spectrin Gene Associated With Severe Poikilocytic Anemia. Blood 1997, 89: 4584-4590. PMID: 9192783, DOI: 10.1182/blood.v89.12.4584.Peer-Reviewed Original ResearchConceptsAlpha-spectrin chainAcceptor splice siteSplice siteSplicing mutationAlpha-spectrin geneΑ-spectrin geneExon 20New acceptor splice siteMolecular basisTermination codonNovel mRNAInsertion upstreamTract mutationsTryptic digestionMutationsG mutationGenesMRNAHeterozygous parentsErythrocyte membranesMembraneFrame skippingCodonSitesVariants
1993
Erythropoietin Therapy for Anemia of Prematurity
Gallagher P, Ehrenkranz R. Erythropoietin Therapy for Anemia of Prematurity. Clinics In Perinatology 1993, 20: 169-191. PMID: 8458164, DOI: 10.1016/s0095-5108(18)30418-4.Peer-Reviewed Original ResearchConceptsAnemia of prematurityRecombinant human erythropoietin administrationBiology of erythropoietinTreatment of anemiaRecombinant human erythropoietinErythropoietin therapyErythropoietin administrationClinical trialsNeonatal erythropoiesisPrematurityHuman erythropoietinValuable adjunctAnemiaTherapyErythropoietinTreatmentPathophysiologyAdjunctAdministrationTrials
1991
Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide.
Floyd P, Gallagher P, Valentino L, Davis M, Marchesi S, Forget B. Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide. Blood 1991, 78: 1364-72. PMID: 1878597, DOI: 10.1182/blood.v78.5.1364.bloodjournal7851364.Peer-Reviewed Original Research