2011
Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S
Stewart AK, Shmukler BE, Vandorpe DH, Rivera A, Heneghan JF, Li X, Hsu A, Karpatkin M, O'Neill AF, Bauer DE, Heeney MM, John K, Kuypers FA, Gallagher PG, Lux SE, Brugnara C, Westhoff CM, Alper SL. Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S. American Journal Of Physiology - Cell Physiology 2011, 301: c1325-c1343. PMID: 21849667, PMCID: PMC3233792, DOI: 10.1152/ajpcell.00054.2011.Peer-Reviewed Original ResearchConceptsMM bathCation currentBath additionBath exposureOocyte studiesExpression increasesStrong hyperpolarizationFunction mutationsIntracellular pHElevated NaMembrane potentialOocytesDistinct cellular responsesFunction phenotypesInfluxPhenotypeCellular responsesAmine transportDistinct mechanismsElicit distinct cellular responsesPatients
2007
Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and function
dos Santos CO, Zhou S, Secolin R, Wang X, Cunha AF, Higgs DR, Kwiatkowski JL, Thein SL, Gallagher PG, Costa FF, Weiss MJ. Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and function. American Journal Of Hematology 2007, 83: 103-108. PMID: 17874450, DOI: 10.1002/ajh.21041.Peer-Reviewed Original Research
2006
Alterations in Expression and Chromatin Configuration of the Alpha Hemoglobin-Stabilizing Protein Gene in Erythroid Krüppel-Like Factor-Deficient Mice
Pilon AM, Nilson DG, Zhou D, Sangerman J, Townes TM, Bodine DM, Gallagher PG. Alterations in Expression and Chromatin Configuration of the Alpha Hemoglobin-Stabilizing Protein Gene in Erythroid Krüppel-Like Factor-Deficient Mice. Molecular And Cellular Biology 2006, 26: 4368-4377. PMID: 16705186, PMCID: PMC1489081, DOI: 10.1128/mcb.02216-05.Peer-Reviewed Original ResearchConceptsErythroid Krüppel-like factorAlpha-hemoglobin-stabilizing proteinWild-type chromatinAHSP promoterCACCC siteBeta-globin gene transcriptionDNase I hypersensitive sitesLocal chromatin structureZinc finger proteinBeta-globin promoterKrüppel-like factorMobility shift assaysBeta-globin geneErythroid genesCACCC sequenceChromatin modulatorsFinger proteinChromatin structureSubtractive hybridizationChromatin statusCACCC boxTranscription factorsProtein geneChromatin configurationHypersensitive sites
2005
GATA-1 and Oct-1 Are Required for Expression of the Human α-Hemoglobin-stabilizing Protein Gene*
Gallagher PG, Liem RI, Wong E, Weiss MJ, Bodine DM. GATA-1 and Oct-1 Are Required for Expression of the Human α-Hemoglobin-stabilizing Protein Gene*. Journal Of Biological Chemistry 2005, 280: 39016-39023. PMID: 16186125, DOI: 10.1074/jbc.m506062200.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBase SequenceBinding SitesBlood ProteinsCell LineCloning, MolecularDNA, ComplementaryErythropoiesisGATA1 Transcription FactorGene ExpressionGlobinsHeLa CellsHumansMiceMice, TransgenicMolecular ChaperonesMolecular Sequence DataMutationOctamer Transcription Factor-1Promoter Regions, GeneticRecombinant ProteinsRNA, MessengerConceptsAlpha-hemoglobin-stabilizing proteinGATA-1AHSP promoterAHSP genePromoter/reporter plasmidsGel mobility shift assaysAHSP gene expressionChromatin immunoprecipitation assaysErythroid-specific expressionMobility shift assaysFurther genetic studiesHuman tissue culture cell linesErythroid proteinTissue culture cell linesErythroid promoterNonerythroid tissuesProtein geneImmunoprecipitation assaysRegulatory elementsShift assaysGene promoterReporter geneCandidate genesDNase IGene expression
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
1999
Stomatocytosis is absent in "stomatin"-deficient murine red blood cells.
Zhu Y, Paszty C, Turetsky T, Tsai S, Kuypers F, Lee G, Cooper P, Gallagher P, Stevens M, Rubin E, Mohandas N, Mentzer W. Stomatocytosis is absent in "stomatin"-deficient murine red blood cells. Blood 1999, 93: 2404-10. PMID: 10090952, DOI: 10.1182/blood.v93.7.2404.407k13_2404_2410.Peer-Reviewed Original ResearchMeSH KeywordsAnemia, Hemolytic, CongenitalAnimalsBlood ProteinsCarrier ProteinsCationsErythrocyte DeformabilityErythrocyte IndicesErythrocyte MembraneErythrocytes, AbnormalFemaleGenotypeHumansIon TransportMaleMembrane FluidityMembrane ProteinsMiceMice, Inbred C57BLMice, KnockoutPhenotypePhosphatidylserinesPhospholipid Transfer ProteinsPotassiumSodiumExclusion of the stomatin, α‐adducin and β‐adducin loci in a large kindred with dehydrated hereditary stomatocytosis
Innes D, Sinard J, Gilligan D, Snyder L, Gallagher P, Morrow J. Exclusion of the stomatin, α‐adducin and β‐adducin loci in a large kindred with dehydrated hereditary stomatocytosis. American Journal Of Hematology 1999, 60: 72-74. PMID: 9883810, DOI: 10.1002/(sici)1096-8652(199901)60:1<72::aid-ajh13>3.0.co;2-8.Peer-Reviewed Original Research
1997
Hematologically Important Mutations: Band 3 and Protein 4.2 Variants in Hereditary Spherocytosis
Gallagher P, Forget B. Hematologically Important Mutations: Band 3 and Protein 4.2 Variants in Hereditary Spherocytosis. Blood Cells Molecules And Diseases 1997, 23: 417-421. PMID: 9446757, DOI: 10.1006/bcmd.1997.0160.Peer-Reviewed Original Research
1996
Genomic Organization and 5′-Flanking DNA Sequence of the Murine Stomatin Gene (Epb72)
Gallagher P, Turetsky T, Mentzer W. Genomic Organization and 5′-Flanking DNA Sequence of the Murine Stomatin Gene (Epb72). Genomics 1996, 34: 410-412. PMID: 8786142, DOI: 10.1006/geno.1996.0304.Peer-Reviewed Original ResearchConceptsStomatin geneDNA sequencesPotential DNA-binding proteinsIntegral membrane proteinsDNA-binding proteinsGenomic DNA sequencesHousekeeping gene promoterGenomic organizationExon structureGenomic structureChromosomal genesMembrane proteinsGene promoterConsensus sequenceGenomic DNAProtein structureGenesHereditary stomatocytosisSequenceProteinErythrocyte membranesStomatinCloningExonsPromoter
1995
Structure, Organization, and Expression of the Human Band 7.2b Gene, a Candidate Gene for Hereditary Hydrocytosis (∗)
Gallagher P, Forget B. Structure, Organization, and Expression of the Human Band 7.2b Gene, a Candidate Gene for Hereditary Hydrocytosis (∗). Journal Of Biological Chemistry 1995, 270: 26358-26363. PMID: 7592848, DOI: 10.1074/jbc.270.44.26358.Peer-Reviewed Original ResearchMeSH Keywords3T3 CellsAmino Acid SequenceAnemia, HemolyticAnimalsBase SequenceBlood ProteinsBlotting, NorthernCell LineConsensus SequenceDNA PrimersDNA, ComplementaryExonsGene ExpressionGenetic VariationHominidaeHumansIntronsLeukemia, Erythroblastic, AcuteMembrane ProteinsMiceMolecular Sequence DataPolymerase Chain ReactionPolymorphism, GeneticPromoter Regions, GeneticRecombinant Fusion ProteinsRegulatory Sequences, Nucleic AcidRestriction MappingRNA, MessengerTransfectionTumor Cells, CulturedConceptsSingle transcription initiation siteSimple sequence repeat polymorphismKilobases of DNATranscription initiation siteAlternative polyadenylation signalsFurther genetic studiesHigh-level expressionNorthern blot analysisPattern of expressionWide tissue distributionGenomic structureRich promoterNonerythroid cellsChromosomal genesPolyadenylation signalMembrane skeletonGene cDNAGene promoterReporter geneCandidate genesRecognition sequenceGenetic studiesInitiation siteGenesBase pairscDNA 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
1993
The Gene for Human Erythrocyte Membrane Protein Band 7.2 (EPB72) Maps to 9q33-q34 Centromeric to the Philadelphia Chromosome Translocation Breakpoint Region
Gallagher P, Upender M, Ward D, Forget B. The Gene for Human Erythrocyte Membrane Protein Band 7.2 (EPB72) Maps to 9q33-q34 Centromeric to the Philadelphia Chromosome Translocation Breakpoint Region. Genomics 1993, 18: 167-169. PMID: 8276411, DOI: 10.1006/geno.1993.1449.Peer-Reviewed Original Research