2008
Red cell membrane: past, present, and future
Mohandas N, Gallagher PG. Red cell membrane: past, present, and future. Blood 2008, 112: 3939-3948. PMID: 18988878, PMCID: PMC2582001, DOI: 10.1182/blood-2008-07-161166.Peer-Reviewed Original ResearchMeSH KeywordsBiological TransportErythrocyte MembraneErythrocytes, AbnormalHumansIsoantigensMalariaMembrane ProteinsSelection, GeneticStructure-Activity RelationshipConceptsRed cell membraneCell membraneCell typesDiverse cell typesHuman cell typesOnly structural componentNatural selectionTransmembrane proteinSkeletal proteinsFunctional characterizationPlasma membraneMembrane envelopeNon-nucleated red cellsMembrane functionRed cell abnormalitiesProteinMembraneDisease statesCellsStructural componentsRed cellsNew lightUnexpected revelationExciting fieldCell abnormalities
2006
Major erythrocyte membrane protein genes in EKLF-deficient mice
Nilson DG, Sabatino DE, Bodine DM, Gallagher PG. Major erythrocyte membrane protein genes in EKLF-deficient mice. Experimental Hematology 2006, 34: 705-712. PMID: 16728274, DOI: 10.1016/j.exphem.2006.02.018.Peer-Reviewed Original ResearchConceptsErythrocyte membrane protein genesMembrane protein geneWild-type backgroundBand 3 geneProtein geneErythroid Krüppel-like factorGamma-globinGamma-globin mRNA levelsLevel of transcriptionGamma-globin expressionFull transcriptional activityKrüppel-like factorBeta-spectrin geneBand 3 mRNAGamma-globin mRNABeta-globin geneSteady-state mRNA levelsEmbryonic lethalityMRNA levelsEKLFAnkyrin promoterMembrane genesTranscriptional activityGlobin chain imbalanceErythroid cells
2004
Hereditary elliptocytosis: spectrin and protein 4.1R
Gallagher PG. Hereditary elliptocytosis: spectrin and protein 4.1R. Seminars In Hematology 2004, 41: 142-164. PMID: 15071791, DOI: 10.1053/j.seminhematol.2004.01.003.Peer-Reviewed Original ResearchUpdate 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
Spectrin St Claude, a Splicing Mutation of the Human α-Spectrin Gene Associated With Severe Poikilocytic Anemia
Fournier C, Nicolas G, Gallagher P, Dhermy D, Grandchamp B, Lecomte M. Spectrin St Claude, a Splicing Mutation of the Human α-Spectrin Gene Associated With Severe Poikilocytic Anemia. Blood 1997, 89: 4584-4590. PMID: 9192783, DOI: 10.1182/blood.v89.12.4584.Peer-Reviewed Original ResearchConceptsAlpha-spectrin chainAcceptor splice siteSplice siteSplicing mutationAlpha-spectrin geneΑ-spectrin geneExon 20New acceptor splice siteMolecular basisTermination codonNovel mRNAInsertion upstreamTract mutationsTryptic digestionMutationsG mutationGenesMRNAHeterozygous parentsErythrocyte membranesMembraneFrame skippingCodonSitesVariants
1996
Hematologically Important Mutations: Spectrin Variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis
Gallagher P, Forget B. Hematologically Important Mutations: Spectrin Variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis. Blood Cells Molecules And Diseases 1996, 22: 254-258. PMID: 9075575, DOI: 10.1006/bcmd.1996.0105.Peer-Reviewed Original ResearchMeSH KeywordsAnemia, Hemolytic, CongenitalElliptocytosis, HereditaryErythrocytes, AbnormalHumansMolecular Sequence DataMutagenesisSpectrinConceptsSpectrin variantMolecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis.
Gallagher PG, Kotula L, Wang Y, Marchesi SL, Curtis PJ, Speicher DW, Forget BG. Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis. American Journal Of Human Genetics 1996, 59: 351-9. PMID: 8755921, PMCID: PMC1914747.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnemia, Hemolytic, CongenitalAsianAsian PeopleBase SequenceBiological EvolutionBlack PeopleElliptocytosis, HereditaryErythrocytes, AbnormalHaplotypesHumansModels, GeneticMolecular Sequence DataMutagenesis, InsertionalPolymorphism, GeneticPrevalenceRepetitive Sequences, Nucleic AcidSpectrinUnited StatesWhite PeopleConceptsAlpha-spectrin geneAmino acid sequenceAcid sequenceHereditary elliptocytosisAlpha-spectrin chainHereditary pyropoikilocytosisPrincipal structural proteinErythrocyte membrane skeletonSingle nucleotide substitutionEvolutionary originLimited tryptic digestionMembrane skeletonMolecular basisGenomic DNANucleotide substitutionsStructural proteinsAlpha-spectrinDifferent haplotypesFounder effectGenesLinkage disequilibriumOnly haplotypeSpectrin proteinsCommon haplotypeTryptic digestion
1995
Hematologic disorders and nonimmune hydrops fetalis
Arcasoy M, Gallagher P. Hematologic disorders and nonimmune hydrops fetalis. Seminars In Perinatology 1995, 19: 502-515. PMID: 8822334, DOI: 10.1016/s0146-0005(05)80057-6.Peer-Reviewed Original ResearchMeSH KeywordsErythrocyte CountErythrocytes, AbnormalFemaleHematologic DiseasesHemolysisHemorrhageHumansHydrops FetalisMalePedigreeConceptsNonimmune hydrops fetalisHematologic disordersHydrops fetalisTwin-twin transfusionFetal blood lossGlucose-6-phosphate dehydrogenase deficiencyFinal common denominatorBlood lossHeart failureFetomaternal hemorrhageNonimmune hydropsErythrocyte lossDehydrogenase deficiencyErythrocyte abnormalitiesErythrocyte productionDisordersHemorrhageAnemiaFetalisAnasarcaTransfusionAscitesEdemaHydropsFailurecDNA 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 muscleExpressionRecurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.
Gallagher PG, Weed SA, Tse WT, Benoit L, Morrow JS, Marchesi SL, Mohandas N, Forget BG. Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. Journal Of Clinical Investigation 1995, 95: 1174-1182. PMID: 7883966, PMCID: PMC441455, DOI: 10.1172/jci117766.Peer-Reviewed Original ResearchConceptsBeta-spectrin geneErythrocyte membrane mechanical stabilityPrincipal structural proteinMembrane mechanical stabilitySpectrin functionBeta spectrinErythrocyte membranesNucleotide substitutionsStudy of erythrocytesStructural proteinsAlpha-spectrinGenetic studiesMolecular defectsPoint mutationsSpectrinHydrops fetalisRecombinant peptideMutationsGenesSevere Coomb's negative hemolytic anemiaThird-trimester fetal loss
1992
A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin.
Gallagher PG, Tse WT, Coetzer T, Lecomte MC, Garbarz M, Zarkowsky HS, Baruchel A, Ballas SK, Dhermy D, Palek J. A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin. Journal Of Clinical Investigation 1992, 89: 892-898. PMID: 1541680, PMCID: PMC442935, DOI: 10.1172/jci115669.Peer-Reviewed Original ResearchConceptsProteolytic cleavage sitesAlpha-spectrin chainTriple helical modelCleavage siteHelix 2Helix-breaking proline substitutionsHereditary elliptocytosisAlpha iAlpha-spectrin geneAlpha-helical structureAmino-terminal sideHereditary pyropoikilocytosisHelical modelErythrocyte membrane proteinsLimited tryptic digestionMembrane proteinsSpectrin repeatsDNA sequencesSpectrin chainsHelix 3Position 207Leucine residuesFunctional importanceProline substitutionPoint mutations
1991
Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide.
Floyd P, Gallagher P, Valentino L, Davis M, Marchesi S, Forget B. Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide. Blood 1991, 78: 1364-72. PMID: 1878597, DOI: 10.1182/blood.v78.5.1364.bloodjournal7851364.Peer-Reviewed Original ResearchA defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis.
Gallagher PG, Tse WT, Marchesi SL, Zarkowsky HS, Forget BG. A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis. Proceedings Of The Association Of American Physicians 1991, 104: 32-9. PMID: 1845156.Peer-Reviewed Original ResearchAnemia, HemolyticBase SequenceDNAErythrocytes, AbnormalHumansMolecular Sequence DataRNA, MessengerSpectrin