2021
Difficulty in Diagnosis of Hereditary Spherocytosis in the Neonate
Gallagher PG. Difficulty in Diagnosis of Hereditary Spherocytosis in the Neonate. Pediatrics 2021, 148: e2021051100. PMID: 34376531, DOI: 10.1542/peds.2021-051100.Peer-Reviewed Original Research
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 ResearchGenes, RecessiveGenetic Predisposition to DiseaseHumansInfantMaleMutationPrognosisSpectrinSpherocytosis, Hereditary
2015
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
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 ResearchMeSH KeywordsAdultCardiac Surgical ProceduresCardiopulmonary BypassErythrocyte DeformabilityErythrocytesExtracorporeal CirculationFemaleHemolysisHumansSpherocytosis, HereditaryA Pediatrician’s Practical Guide to Diagnosing and Treating Hereditary Spherocytosis in Neonates
Christensen RD, Yaish HM, Gallagher PG. A Pediatrician’s Practical Guide to Diagnosing and Treating Hereditary Spherocytosis in Neonates. Pediatrics 2015, 135: 1107-1114. PMID: 26009624, PMCID: PMC4444801, DOI: 10.1542/peds.2014-3516.Peer-Reviewed Original ResearchMeSH KeywordsAnkyrinsDecision TreesHumansInfant, NewbornPediatricsPractice Guidelines as TopicSpherocytosis, HereditaryConceptsHereditary spherocytosisDiagnosis of HSABO hemolytic diseaseGlucose-6-phosphate dehydrogenase deficiencyHazardous hyperbilirubinemiaErythrocyte transfusionSymptomatic anemiaNeurologic dysfunctionPrompt diagnosisAdverse outcomesEmergency departmentNewborn periodNeonatal presentationNewborn infantsHemolytic diseaseAppropriate treatmentEarly suspicionHemolytic anemiaHemolytic conditionsAnticipatory guidanceNeonatesFirst monthAnemiaDehydrogenase deficiencyHyperbilirubinemia
2014
Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus
Bogardus H, Schulz VP, Maksimova Y, Miller BA, Li P, Forget BG, Gallagher PG. Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus. Haematologica 2014, 99: e168-e170. PMID: 24895341, PMCID: PMC4562552, DOI: 10.3324/haematol.2014.110312.Peer-Reviewed Original Research
2013
Abnormalities of the Erythrocyte Membrane
Gallagher PG. Abnormalities of the Erythrocyte Membrane. Pediatric Clinics Of North America 2013, 60: 1349-1362. PMID: 24237975, PMCID: PMC4155395, DOI: 10.1016/j.pcl.2013.09.001.Peer-Reviewed Original ResearchMeSH KeywordsAnemia, Hemolytic, CongenitalElliptocytosis, HereditaryErythrocyte MembraneErythrocytesHumansSpherocytosis, HereditarySplenectomyConceptsCommon primary disordersRole of splenectomyHealth care providersLong-term riskMost patientsSymptomatic anemiaPrimary disorderCare providersPrimary abnormalitySplenectomyPatientsManagement guidelinesHereditary spherocytosisHereditary spherocytosis patientsErythrocyte membranesAbnormalitiesGenetic heterogeneityAnemiaSyndromeTherapy
2012
A tissue-specific chromatin loop activates the erythroid ankyrin-1 promoter
Yocum AO, Steiner LA, Seidel NE, Cline AP, Rout ED, Lin JY, Wong C, Garrett LJ, Gallagher PG, Bodine DM. A tissue-specific chromatin loop activates the erythroid ankyrin-1 promoter. Blood 2012, 120: 3586-3593. PMID: 22968456, PMCID: PMC3482866, DOI: 10.1182/blood-2012-08-450262.Peer-Reviewed Original Research3' Untranslated Regions5' Untranslated RegionsAnimalsAnkyrinsBinding SitesCell Line, TumorChromatinDeoxyribonuclease IEnhancer Elements, GeneticHistonesHumansInsulator ElementsK562 CellsMiceMice, TransgenicNF-E2 Transcription Factor, p45 SubunitOrgan SpecificityPromoter Regions, GeneticProtein BindingProtein IsoformsSpherocytosis, Hereditary
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 Research
2010
Mutation of a barrier insulator in the human ankyrin-1 gene is associated with hereditary spherocytosis
Gallagher PG, Steiner LA, Liem RI, Owen AN, Cline AP, Seidel NE, Garrett LJ, Bodine DM. Mutation of a barrier insulator in the human ankyrin-1 gene is associated with hereditary spherocytosis. Journal Of Clinical Investigation 2010, 120: 4453-4465. PMID: 21099109, PMCID: PMC2993586, DOI: 10.1172/jci42240.Peer-Reviewed Original ResearchConceptsAnkyrin-1 geneBarrier insulatorsTransgenic miceUpstream regionErythroid promoterChromatin configurationGene promoterErythroid cellsHereditary spherocytosisPotential pathogenetic mechanismsHuman ankyrin-1 geneHuman erythroid cell lineBarrier-associated proteinsErythroid cell linesPathogenetic mechanismsCommon causeUniform expressionNucleotide substitutionsRegion upstreamPromoter actsHuman diseasesPromoterCell linesPrimary cellsGenesGenome-wide detection of a TFIID localization element from an initial human disease mutation
Yang MQ, Laflamme K, Gotea V, Joiner CH, Seidel NE, Wong C, Petrykowska HM, Lichtenberg J, Lee S, Welch L, Gallagher PG, Bodine DM, Elnitski L. Genome-wide detection of a TFIID localization element from an initial human disease mutation. Nucleic Acids Research 2010, 39: 2175-2187. PMID: 21071415, PMCID: PMC3064768, DOI: 10.1093/nar/gkq1035.Peer-Reviewed Original ResearchConceptsPromoter elementsPromoter motifsHuman promotersCore promoter motifsEukaryotic core promotersGenome-wide scalePre-initiation complexTranscription factor TFIIDGenome-wide detectionNovel promoter elementTranscription start siteHuman disease mutationsBasal promoter elementsFactor TFIIDTranscriptional machineryGene regulationSp1 promoterConsensus motifLocalization sequenceTATA motifStart siteTATA boxInitiator elementLocalization elementsWidespread role
2009
Imaging of the diffusion of single band 3 molecules on normal and mutant erythrocytes
Kodippili GC, Spector J, Sullivan C, Kuypers FA, Labotka R, Gallagher PG, Ritchie K, Low PS. Imaging of the diffusion of single band 3 molecules on normal and mutant erythrocytes. Blood 2009, 113: 6237-6245. PMID: 19369229, PMCID: PMC2699255, DOI: 10.1182/blood-2009-02-205450.Peer-Reviewed Original ResearchMeSH KeywordsAnion Exchange Protein 1, ErythrocyteDiffusionElliptocytosis, HereditaryErythrocyte MembraneHumansSpherocytosis, HereditaryConceptsBand 3 moleculesBand 3Membrane componentsPeripheral membrane proteinsMembrane-spanning proteinsProtein-protein interactionsBand 3 populationMembrane proteinsSingle-particle trackingIntact human erythrocytesPlasma membraneIntact normal erythrocytesRed cell pathologyMotile propertiesDiseased cellsHuman erythrocyte membranesMutant erythrocytesCell pathologyProteinEntire complexHuman erythrocytesCompartment sizeErythrocyte membranesMembraneMembrane abnormalities
2008
Hereditary spherocytosis
Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. The Lancet 2008, 372: 1411-1426. PMID: 18940465, DOI: 10.1016/s0140-6736(08)61588-3.Peer-Reviewed Original ResearchMeSH KeywordsGallbladder DiseasesHemolysisHumansSeverity of Illness IndexSpherocytosis, HereditarySplenectomyConceptsHereditary spherocytosisHaemolytic anaemiaSevere haemolytic anaemiaCommon inherited disorderErythrocyte transfusionMost patientsAplastic crisisCommon complicationPrimary lesionNorthern European ancestryClinical severityHaemolytic episodeAnemiaInherited disorderIsolated mutationsCareful assessmentSpherocytosisEuropean ancestryDisordersMain causeCholelithiasisSplenectomyJaundiceSplenomegalyTransfusionAnkyrin‐linked hereditary spherocytosis in an African–American kindred
Sangerman J, Maksimova Y, Edelman EJ, Morrow JS, Forget BG, Gallagher PG. Ankyrin‐linked hereditary spherocytosis in an African–American kindred. American Journal Of Hematology 2008, 83: 789-794. PMID: 18704959, PMCID: PMC11304496, DOI: 10.1002/ajh.21254.Peer-Reviewed Original ResearchConceptsInitiator methionineNull allelesErythrocyte membrane protein genesMembrane protein geneRabbit reticulocyte lysateTissue-specific promotersErythrocyte membrane skeletonExon 1 sequencesIsoform diversityAlternative splicingTranslation initiationProtein geneAnkyrin geneMembrane skeletonAlternate polyadenylationPlasma membraneReticulocyte lysateMethionine mutationCOOH terminusErythroid cellsDownstream codonsGenomic DNANumerous isoformsAnkyrinGenes
2007
A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis
Edelman EJ, Maksimova Y, Duru F, Altay C, Gallagher PG. A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis. Blood 2007, 109: 5491-5493. PMID: 17327413, PMCID: PMC1890827, DOI: 10.1182/blood-2006-09-046573.Peer-Reviewed Original Research
2006
Pathogenic proline mutation in the linker between spectrin repeats: disease caused by spectrin unfolding
Johnson CP, Gaetani M, Ortiz V, Bhasin N, Harper S, Gallagher PG, Speicher DW, Discher DE. Pathogenic proline mutation in the linker between spectrin repeats: disease caused by spectrin unfolding. Blood 2006, 109: 3538-3543. PMID: 17192394, PMCID: PMC1852230, DOI: 10.1182/blood-2006-07-038588.Peer-Reviewed Original ResearchElliptocytosis, HereditaryHumansMutation, MissenseProlineProtein FoldingSpectrinSpherocytosis, Hereditary
2005
Hematologically important mutations: Ankyrin variants in hereditary spherocytosis
Gallagher PG. Hematologically important mutations: Ankyrin variants in hereditary spherocytosis. Blood Cells Molecules And Diseases 2005, 35: 345-347. PMID: 16223590, DOI: 10.1016/j.bcmd.2005.08.008.Peer-Reviewed Original ResearchA dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis
Gallagher PG, Nilson DG, Wong C, Weisbein JL, Garrett-Beal LJ, Eber SW, Bodine DM. A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis. Human Molecular Genetics 2005, 14: 2501-2509. PMID: 16037067, DOI: 10.1093/hmg/ddi254.Peer-Reviewed Original ResearchMeSH KeywordsAnkyrinsBase CompositionDNA PrimersErythrocyte MembraneGene Expression RegulationGenes, ReporterHumansPeptide Chain Initiation, TranslationalPolymerase Chain ReactionPolymorphism, Single-Stranded ConformationalPromoter Regions, GeneticSequence DeletionSpherocytosis, HereditaryTATA BoxTranscription Factor TFIIDTranscription, GeneticConceptsTFIID complex formationTATA-binding proteinTranscription initiation siteGene expressionAnkyrin promoterCis elementsInitiation siteCore promoter DNAMultiple transcription initiation sitesPreinitiation complex formationStart site utilizationComplex formationSite utilizationAlters gene expressionTFIID complexFunctional Sp1Promoter DNATranscription initiationTypes of promotersErythroid promoterMammalian promotersGene transcriptionTG deletionMutant promotersReporter geneRed Cell Membrane Disorders
Gallagher PG. Red Cell Membrane Disorders. Hematology 2005, 2005: 13-18. PMID: 16304353, DOI: 10.1182/asheducation-2005.1.13.Peer-Reviewed Original ResearchMeSH KeywordsAnemia, HemolyticAnemia, Hemolytic, CongenitalCardiovascular DiseasesElliptocytosis, HereditaryErythrocyte MembraneHumansMembrane ProteinsSpherocytosis, HereditarySplenectomyConceptsComplications of splenectomyOverwhelming postsplenectomy infectionRecent management guidelinesRole of splenectomyPenicillin-resistant pneumococciHealth care providersLong-term riskPulmonary hypertensionLaparoscopic approachMost patientsPostsplenectomy infectionSurgical methodsLaboratory heterogeneityCardiovascular diseaseHemolytic anemiaCare providersSplenectomyThrombotic disordersManagement guidelinesHereditary spherocytosisDisordersInfectionPrivate mutationsRed cell membrane disordersSpherocytosis
2004
Update on the clinical spectrum and genetics of red blood cell membrane disorders.
Gallagher PG. Update on the clinical spectrum and genetics of red blood cell membrane disorders. Current Hematology Reports 2004, 3: 85-91. PMID: 14965483.Peer-Reviewed Original ResearchConceptsStructure/function relationshipsSignificant genetic heterogeneityPrecise genetic defectGenetic lociMolecular biologyRed blood cell membrane disordersSplicing mutationGene deletionNonsense mutationCell membraneFunction relationshipsGenetic heterogeneityGenetic defectsHereditary elliptocytosisMembrane disordersRed blood cell membraneBlood cell membranesHereditary pyropoikilocytosisMutationsBetter understandingErythrocyte membranesMembraneLociGeneticsBiology
2001
Erythrocyte Ankyrin Promoter Mutations Associated with Recessive Hereditary Spherocytosis Cause Significant Abnormalities in Ankyrin Expression*
Gallagher P, Sabatino D, Basseres D, Nilson D, Wong C, Cline A, Garrett L, Bodine D. Erythrocyte Ankyrin Promoter Mutations Associated with Recessive Hereditary Spherocytosis Cause Significant Abnormalities in Ankyrin Expression*. Journal Of Biological Chemistry 2001, 276: 41683-41689. PMID: 11527968, DOI: 10.1074/jbc.m105844200.Peer-Reviewed Original Research