2018
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency
Bianchi P, Fermo E, Glader B, Kanno H, Agarwal A, Barcellini W, Eber S, Hoyer JD, Kuter DJ, Maia TM, del Mar Mañu‐Pereira M, Kalfa TA, Pissard S, Segovia J, van Beers E, Gallagher PG, Rees DC, van Wijk R, with the endorsement of EuroBloodNet T. Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency. American Journal Of Hematology 2018, 94: 149-161. PMID: 30358897, PMCID: PMC7344868, DOI: 10.1002/ajh.25325.Peer-Reviewed Original ResearchMeSH KeywordsAnemia, Hemolytic, Congenital NonspherocyticArtifactsBlood Cell CountBlood PreservationDNA Mutational AnalysisErythrocytesFalse Negative ReactionsFalse Positive ReactionsHumansPyruvate KinasePyruvate Metabolism, Inborn ErrorsReference ValuesReticulocytesSensitivity and SpecificitySequence Analysis, DNASpectrophotometryTime FactorsConceptsPyruvate kinase deficiency
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
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 Research
2015
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis
Glogowska E, Lezon-Geyda K, Maksimova Y, Schulz VP, Gallagher PG. Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis. Blood 2015, 126: 1281-1284. PMID: 26198474, PMCID: PMC4566808, DOI: 10.1182/blood-2015-07-657957.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAmino Acid SubstitutionAnemia, Hemolytic, CongenitalBase SequenceDNA Mutational AnalysisExomeFemaleGenes, DominantGenetic Association StudiesHeterozygoteHumansHydrops FetalisIntermediate-Conductance Calcium-Activated Potassium ChannelsIon ChannelsMaleMolecular Sequence DataMutation, MissensePedigreeSequence Homology, Amino AcidConceptsErythrocyte volume homeostasisAutosomal dominant hemolytic anemiaPotassium channel proteinHereditary xerocytosisHeterozygous mutationsChannel proteinsWhole-exome sequencingKCNN4 geneSame residuesSegregation analysisDisease phenotypeMutationsCellular dehydrationChannel mutationsGardos channelHX patientsDifferent mutationsCritical rolePiezo1XerocytosisWater lossVolume homeostasisChannel inactivationRecent studiesDeoxy conditions
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
2009
The GPA-dependent, spherostomatocytosis mutant AE1 E758K induces GPA-independent, endogenous cation transport in amphibian oocytes
Stewart AK, Vandorpe DH, Heneghan JF, Chebib F, Stolpe K, Akhavein A, Edelman EJ, Maksimova Y, Gallagher PG, Alper SL. The GPA-dependent, spherostomatocytosis mutant AE1 E758K induces GPA-independent, endogenous cation transport in amphibian oocytes. American Journal Of Physiology - Cell Physiology 2009, 298: c283-c297. PMID: 19907019, PMCID: PMC2822494, DOI: 10.1152/ajpcell.00444.2009.Peer-Reviewed Original Research4,4'-Diisothiocyanostilbene-2,2'-Disulfonic AcidAmbystoma mexicanumAmino Acid SequenceAmphibiansAnemia, Hemolytic, CongenitalAnimalsAnion Exchange Protein 1, ErythrocyteBicarbonatesBumetanideCell MembraneCell Membrane PermeabilityChloridesCloning, MolecularDNA Mutational AnalysisFemaleGlycophorinsHeterozygoteHumansHydrogen-Ion ConcentrationKineticsMaleMembrane PotentialsMiddle AgedMolecular Sequence DataMutation, MissenseOocytesOuabainOxalic AcidRubidium RadioisotopesSeverity of Illness IndexSodium Potassium Chloride Symporter InhibitorsSodium-Potassium-Exchanging ATPaseSulfatesXenopus laevis
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, 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