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 ResearchMolecular basis of tactile specialization in the duck bill
Schneider ER, Anderson EO, Mastrotto M, Matson JD, Schulz VP, Gallagher PG, LaMotte RH, Gracheva EO, Bagriantsev SN. Molecular basis of tactile specialization in the duck bill. Proceedings Of The National Academy Of Sciences Of The United States Of America 2017, 114: 13036-13041. PMID: 29109250, PMCID: PMC5724259, DOI: 10.1073/pnas.1708793114.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsAvian ProteinsBeakChickensCloning, MolecularDucksEmbryo, NonmammalianGene ExpressionGenetic VectorsHEK293 CellsHumansIon ChannelsKineticsMechanoreceptorsMechanotransduction, CellularMicePatch-Clamp TechniquesRecombinant ProteinsRNA, Small InterferingSequence Homology, Amino AcidSpecies SpecificityTouchTouch PerceptionTrigeminal GanglionConceptsMolecular basisHeterologous expression systemSpecialist birdsMouse orthologPiezo2 ion channelsTactile specializationExpression systemDuck billMolecular characterizationIon channelsFeeding behaviorEdible matterPiezo2BirdsElectrophysiological characterizationSlow inactivation kineticsOrthologsVertebratesMechanoMechanotransductionKnockdownInactivation kineticsMurky watersHigh densityNeuronsNovel 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 anemiaHemoglobin 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
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
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 featureNeuronal mechanism for acute mechanosensitivity in tactile-foraging waterfowl
Schneider ER, Mastrotto M, Laursen WJ, Schulz VP, Goodman JB, Funk OH, Gallagher PG, Gracheva EO, Bagriantsev SN. Neuronal mechanism for acute mechanosensitivity in tactile-foraging waterfowl. Proceedings Of The National Academy Of Sciences Of The United States Of America 2014, 111: 14941-14946. PMID: 25246547, PMCID: PMC4205607, DOI: 10.1073/pnas.1413656111.Peer-Reviewed Original ResearchConceptsTrigeminal ganglionIon channel Piezo2Light mechanical stimuliMechanoreceptive neuronsTG neuronsPrimary afferentsMechanical stimuliTrigeminal afferentsNeuronal excitationEnd organsNeuronal mechanismsDirect mechanical stimulationCellular mechanismsMechanical stimulationAfferentsNeuronsLow thresholdNumerical expansionGangliaStimuli
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
1995
cDNA Structure, Tissue-Specific Expression, and Chromosomal Localization of the Murine Band 7.2b Gene
Gallagher P, Romana M, Lieman J, Ward D. cDNA Structure, Tissue-Specific Expression, and Chromosomal Localization of the Murine Band 7.2b Gene. Blood 1995, 86: 359-365. PMID: 7540886, DOI: 10.1182/blood.v86.1.359.bloodjournal861359.Peer-Reviewed Original ResearchConceptsTissue-specific expressionSingle membrane-spanning domainMembrane-spanning domainsBp of cDNAOpen reading frameChromosomal localizationSignificant homologyReading frameCDNA structureHuman homologueAlpha-helixProtein structureBeta sheetAmino acidsErythrocyte membranesGenesProximal regionDatabase searchingProteinSitu hybridizationCDNADistal regionWider patternsSkeletal muscleExpression