2023
A Novel β-Globin Locus Deletional Syndrome: εγ-Thalassemia
Gallagher P. A Novel β-Globin Locus Deletional Syndrome: εγ-Thalassemia. Clinical Chemistry 2023, 69: 671-672. PMID: 37279577, DOI: 10.1093/clinchem/hvad067.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 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 data
2017
A 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
Mutation in a Highly Conserved COOH-Terminal Residue of Krüppel-Like Factor 1 Associated with Elevated Hb F in a Compound Heterozygous β-Thalassemia Patient with a Nontransfusion-Dependent Thalassemia Phenotype
Gallagher PG, Maksimova Y, Schulz VP, Forget BG. Mutation in a Highly Conserved COOH-Terminal Residue of Krüppel-Like Factor 1 Associated with Elevated Hb F in a Compound Heterozygous β-Thalassemia Patient with a Nontransfusion-Dependent Thalassemia Phenotype. Hemoglobin 2016, 40: 361-364. PMID: 27821015, DOI: 10.1080/03630269.2016.1214921.Peer-Reviewed Original ResearchAllogeneic 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 Research
2015
Disorders of erythrocyte volume homeostasis
Glogowska E, Gallagher PG. Disorders of erythrocyte volume homeostasis. International Journal Of Laboratory Hematology 2015, 37: 85-91. PMID: 25976965, PMCID: PMC4435826, DOI: 10.1111/ijlh.12357.Peer-Reviewed Original Research
2014
Piezo Proteins: Regulators of Mechanosensation and Other Cellular Processes*
Bagriantsev SN, Gracheva EO, Gallagher PG. Piezo Proteins: Regulators of Mechanosensation and Other Cellular Processes*. Journal Of Biological Chemistry 2014, 289: 31673-31681. PMID: 25305018, PMCID: PMC4231648, DOI: 10.1074/jbc.r114.612697.Peer-Reviewed Original ResearchConceptsPiezo proteinsCellular processesMammalian cellsCellular developmentMechanosensory transductionCellular migrationIon channelsHereditary xerocytosisVolume regulationProteinBiologic processesRegulationImportant insightsTransductionMechanosensationRegulatorMutationsXerocytosisProliferationCellsMechanoVariety of disordersElongationMigrationProminent featureSevere 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
Whole-exome sequencing identifies a novel somatic mutation in MMP8 associated with a t(1;22)-acute megakaryoblastic leukemia
Kim Y, Schulz VP, Satake N, Gruber TA, Teixeira AM, Halene S, Gallagher PG, Krause DS. Whole-exome sequencing identifies a novel somatic mutation in MMP8 associated with a t(1;22)-acute megakaryoblastic leukemia. Leukemia 2013, 28: 945-948. PMID: 24157583, PMCID: PMC3981934, DOI: 10.1038/leu.2013.314.Peer-Reviewed Original ResearchThe common hereditary elliptocytosis-associated α-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation
Harper SL, Sriswasdi S, Tang HY, Gaetani M, Gallagher PG, Speicher DW. The common hereditary elliptocytosis-associated α-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation. Blood 2013, 122: 3045-3053. PMID: 23974198, PMCID: PMC3811177, DOI: 10.1182/blood-2013-02-487702.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBinding SitesCross-Linking ReagentsElliptocytosis, HereditaryErythrocyte MembraneHumansModels, MolecularMolecular Sequence DataMutationProtein BindingProtein MultimerizationProtein StabilityProtein Structure, SecondaryProtein Structure, TertiaryRecombinant ProteinsSpectrinConceptsHereditary elliptocytosisMembrane destabilizationLarge conformational rearrangementsGel filtration analysisMembrane proteinsTetramer assemblyHereditary pyropoikilocytosisBiophysical analysisCommon hereditary elliptocytosisConformational rearrangementsDimer conformationHelical contentTetramerization siteFiltration analysisSpectrin tetramersNovel mechanismUnknown mechanismMutationsBinding assaysSpectrinChemical crosslinkingErythrocyte shapeTetramerErythrocyte membranesMembraneFetal 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, Al 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
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 homeostasis
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 ResearchHbA2: at the borderline of the KLF
Gallagher PG. HbA2: at the borderline of the KLF. Blood 2011, 118: 4301-4302. PMID: 22021451, DOI: 10.1182/blood-2011-08-373324.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
2008
Ankyrin‐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