2022
Gender analysis of Journal of Perinatology authorship during COVID-19
Gadek L, Dammann C, Savich R, Mmuo-Oji C, Barrera L, Gallagher P, Machut K. Gender analysis of Journal of Perinatology authorship during COVID-19. Journal Of Perinatology 2022, 43: 518-522. PMID: 36335276, PMCID: PMC9638437, DOI: 10.1038/s41372-022-01551-x.Peer-Reviewed Original Research
2020
Functional characterization of a novel SLC40A1 Arg88Ile mutation in a kindred with familial iron overload treated by phlebotomy
Womack J, Sukumaran A, Li X, Lozovatsky L, Gallagher PG, Seid JE, Finberg KE. Functional characterization of a novel SLC40A1 Arg88Ile mutation in a kindred with familial iron overload treated by phlebotomy. Blood Cells Molecules And Diseases 2020, 87: 102532. PMID: 33385755, PMCID: PMC8272917, DOI: 10.1016/j.bcmd.2020.102532.Peer-Reviewed Original ResearchCharacterization 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 cellsAlloantibodiesPerinatal aspects on the covid-19 pandemic: a practical resource for perinatal–neonatal specialists
Mimouni F, Lakshminrusimha S, Pearlman SA, Raju T, Gallagher PG, Mendlovic J. Perinatal aspects on the covid-19 pandemic: a practical resource for perinatal–neonatal specialists. Journal Of Perinatology 2020, 40: 820-826. PMID: 32277162, PMCID: PMC7147357, DOI: 10.1038/s41372-020-0665-6.Peer-Reviewed Original ResearchConceptsPerinatal aspectsCOVID-19 infectionCOVID-19SARS-CoV-2Maternal infectionThird trimesterEarly pregnancyPregnant womenRisk factorsSevere diseaseHuman milkDisease severityVertical transmissionAvailable evidenceGoogle ScholarCOVID-19 informationWomenPregnancyNeonatesCOVID-19 pandemicWebsites of organizationsInfectionAvailable literatureCurrent knowledgePandemicGenotype‐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
2019
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia
Gallagher PG, Maksimova Y, Lezon-Geyda K, Newburger PE, Medeiros D, Hanson RD, Rothman J, Israels S, Wall DA, Sidonio RF, Sieff C, Gowans LK, Mittal N, Rivera-Santiago R, Speicher DW, Baserga SJ, Schulz VP. Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia. Journal Of Clinical Investigation 2019, 129: 2878-2887. PMID: 31038472, PMCID: PMC6597203, DOI: 10.1172/jci127195.Peer-Reviewed Original ResearchConceptsRecessive hereditary spherocytosisSplice acceptor siteHuman genetic diseasesMRNA stability studiesAberrant splicing contributesSplicing contributesWhole-genome sequencingSplicing analysisHereditary pyropoikilocytosisTermination codonNull allelesGenome sequencingWhole-exome sequencingBranch pointsNumerous mutationsGenetic diseasesLinkage disequilibriumMRNA transcriptsΑ-spectrinMinigene studiesAcceptor sitesMutationsExome sequencingNew targetsMKL1-actin pathway restricts chromatin accessibility and prevents mature pluripotency activation
Hu X, Liu ZZ, Chen X, Schulz VP, Kumar A, Hartman AA, Weinstein J, Johnston JF, Rodriguez EC, Eastman AE, Cheng J, Min L, Zhong M, Carroll C, Gallagher PG, Lu J, Schwartz M, King MC, Krause DS, Guo S. MKL1-actin pathway restricts chromatin accessibility and prevents mature pluripotency activation. Nature Communications 2019, 10: 1695. PMID: 30979898, PMCID: PMC6461646, DOI: 10.1038/s41467-019-09636-6.Peer-Reviewed Original ResearchConceptsCell fate reprogrammingChromatin accessibilityActin cytoskeletonSomatic cell reprogrammingPluripotency transcription factorsGlobal chromatin accessibilityGenomic accessibilityCytoskeleton (LINC) complexCell reprogrammingCytoskeletal genesTranscription factorsReprogrammingPluripotencyChromatinCytoskeletonMKL1Unappreciated aspectPathwayNuclear volumeNucleoskeletonSUN2CellsActivationGenesExpression
2018
Severe nondominant hereditary spherocytosis in an infant with coinheritance of three rare alpha‐spectrin gene defects
Bhatt N, Loew JM, Gallagher P, Mittal N. Severe nondominant hereditary spherocytosis in an infant with coinheritance of three rare alpha‐spectrin gene defects. Pediatric Blood & Cancer 2018, 66: e27480. PMID: 30255572, DOI: 10.1002/pbc.27480.Peer-Reviewed Original ResearchHuman Extrafollicular CD4+ Th Cells Help Memory B Cells Produce Igs.
Kim ST, Choi JY, Lainez B, Schulz VP, Karas DE, Baum ED, Setlur J, Gallagher PG, Craft J. Human Extrafollicular CD4+ Th Cells Help Memory B Cells Produce Igs. The Journal Of Immunology 2018, 201: 1359-1372. PMID: 30030323, PMCID: PMC6112860, DOI: 10.4049/jimmunol.1701217.Peer-Reviewed Original ResearchConceptsMemory B cellsHumoral recall responsesB cell folliclesT cell subsetsB cellsTfh cellsCell subsetsRecall responsesT cellsInhibitory receptor PD-1Follicular helper T cellsGerminal center B-cell maturationIL-21 secretionChemokine receptor expressionReceptor PD-1Helper T cellsT cell zonesPrimary immune responseChemokine receptor CXCR5Transcription factor Bcl6B cell maturationTonsillar CD4IL-10IL-21PD-1KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV
Ravindranath Y, Johnson RM, Goyette G, Buck S, Gadgeel M, Gallagher PG. KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV. Journal Of Pediatric Hematology/Oncology 2018, 40: e405-e409. PMID: 29300242, PMCID: PMC6092092, DOI: 10.1097/mph.0000000000001056.Peer-Reviewed Original ResearchConceptsCongenital dyserythropoietic anemia type IVClinical courseSevere clinical courseType IVSevere clinical phenotypeIV patientsFetal anemiaTransfusion dependenceFunctional abnormalitiesClinical phenotypePatientsHematologic phenotypeChildrenErythrocyte membranesPhenotypeSplenectomyAnemiaComplete sex reversalFetalisAbnormalitiesHb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype–phenotype correlation
Singh SA, Sarangi S, Appiah‐Kubi A, Hsu P, Smith WB, Gallagher PG, Glader B, Chui DHK. Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype–phenotype correlation. Pediatric Blood & Cancer 2018, 65: e27220. PMID: 29749692, DOI: 10.1002/pbc.27220.Peer-Reviewed Original ResearchClinical 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 dataA Ser725Arg mutation in Band 3 abolishes transport function and leads to anemia and renal tubular acidosis
Yang E, Seo-Mayer P, Lezon-Geyda K, Badior KE, Li J, Casey JR, Reithmeier RAF, Gallagher PG. A Ser725Arg mutation in Band 3 abolishes transport function and leads to anemia and renal tubular acidosis. Blood 2018, 131: 1759-1763. PMID: 29483102, PMCID: PMC5897869, DOI: 10.1182/blood-2018-01-827725.Peer-Reviewed Original Research
2017
Hereditary xerocytosis: Diagnostic considerations
Risinger M, Glogowska E, Chonat S, Zhang K, Dagaonkar N, Joiner CH, Quinn CT, Kalfa TA, Gallagher PG. Hereditary xerocytosis: Diagnostic considerations. American Journal Of Hematology 2017, 93: e67-e69. PMID: 29210095, PMCID: PMC5807085, DOI: 10.1002/ajh.24996.Peer-Reviewed Original ResearchNovel 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 anemiaA variant Sp1 (R218Q) transcription factor might enhance HbF expression in β0‐thalassaemia homozygotes
Jiang Z, Luo H, Farrell JJ, Zhang Z, Schulz VP, Albarawi D, Steinberg MH, Al‐Allawi N, Gallagher PG, Forget BG, Chui DHK. A variant Sp1 (R218Q) transcription factor might enhance HbF expression in β0‐thalassaemia homozygotes. British Journal Of Haematology 2017, 180: 755-757. PMID: 28240767, DOI: 10.1111/bjh.14445.Peer-Reviewed Original ResearchHemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis
Yang E, Voelkel EB, Lezon‐Geyda K, Schulz VP, Gallagher PG. Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis. Pediatric Blood & Cancer 2017, 64 PMID: 28121068, PMCID: PMC5858911, DOI: 10.1002/pbc.26444.Peer-Reviewed Original ResearchConceptsMean corpuscular hemoglobin concentrationElevated mean corpuscular hemoglobin concentrationHemoglobin C traitErythrocyte dehydrationC traitHereditary xerocytosisCorpuscular hemoglobin concentrationAcute hemolysisHbC traitHemoglobin concentrationEvidence of dehydrationOsmotic gradient ektacytometryPatientsPIEZO1 mutationsEktacytometryGenetic studies
2016
Allogeneic bone marrow transplantation for treatment of severe hemolytic anemia attributable to hexokinase deficiency
Khazal S, Polishchuk V, Manwani D, Gallagher PG, Prinzing S, Mahadeo KM. Allogeneic bone marrow transplantation for treatment of severe hemolytic anemia attributable to hexokinase deficiency. Blood 2016, 128: 735-737. PMID: 27297791, DOI: 10.1182/blood-2016-03-702860.Peer-Reviewed Original ResearchSetd1a and NURF mediate chromatin dynamics and gene regulation during erythroid lineage commitment and differentiation
Li Y, Schulz VP, Deng C, Li G, Shen Y, Tusi BK, Ma G, Stees J, Qiu Y, Steiner LA, Zhou L, Zhao K, Bungert J, Gallagher PG, Huang S. Setd1a and NURF mediate chromatin dynamics and gene regulation during erythroid lineage commitment and differentiation. Nucleic Acids Research 2016, 44: 7173-7188. PMID: 27141965, PMCID: PMC5009724, DOI: 10.1093/nar/gkw327.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAntigens, NuclearCell LineageCells, CulturedChromatinChromatin Assembly and DisassemblyChromatin ImmunoprecipitationErythroblastsErythrocyte CountErythrocytesErythropoiesisFemaleGene Expression RegulationHemoglobinsHistone-Lysine N-MethyltransferaseHistonesHumansLysineMaleMethylationMiceMice, KnockoutMicrococcal NucleaseMultiprotein ComplexesNerve Tissue ProteinsPromoter Regions, GeneticSpleenTranscription FactorsUpstream Stimulatory FactorsConceptsNURF complexChromatin dynamicsErythroid genesLineage commitmentAdult β-globin geneErythroid gene promotersErythroid lineage differentiationCell context-dependent mannerErythroid lineage commitmentChromatin structural alterationsContext-dependent mannerΒ-globin geneChromatin architectureEnhancer accessibilityChromatin accessibilityNucleosome repositioningTranscription regulationChromatin structureH3K4 methylationGene regulationComplex occupancyMammalian cellsGene activationGene transcriptionLineage differentiationDiagnosis of Pyruvate Kinase Deficiency
Gallagher PG, Glader B. Diagnosis of Pyruvate Kinase Deficiency. Pediatric Blood & Cancer 2016, 63: 771-772. PMID: 26836632, DOI: 10.1002/pbc.25922.Peer-Reviewed Original Research