2018
Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype–phenotype correlation
Singh SA, Sarangi S, Appiah‐Kubi A, Hsu P, Smith WB, Gallagher PG, Glader B, Chui DHK. Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype–phenotype correlation. Pediatric Blood & Cancer 2018, 65: e27220. PMID: 29749692, DOI: 10.1002/pbc.27220.Peer-Reviewed Original Research
2016
Diagnosis of Pyruvate Kinase Deficiency
Gallagher PG, Glader B. Diagnosis of Pyruvate Kinase Deficiency. Pediatric Blood & Cancer 2016, 63: 771-772. PMID: 26836632, DOI: 10.1002/pbc.25922.Peer-Reviewed Original Research
2011
Bi‐allelic deletions within 13q14 and transient trisomy 21 with absence of GATA1s in pediatric acute megakaryoblastic leukemia
Massaro SA, Bajaj R, Pashankar FD, Ornstein D, Gallagher PG, Krause DS, Li P. Bi‐allelic deletions within 13q14 and transient trisomy 21 with absence of GATA1s in pediatric acute megakaryoblastic leukemia. Pediatric Blood & Cancer 2011, 57: 516-519. PMID: 21538823, PMCID: PMC4517576, DOI: 10.1002/pbc.23156.Peer-Reviewed Original Research
2010
Functional Analysis of a Novel cis-Acting Regulatory Region within the Human Ankyrin Gene (ANK-1) Promoter
Laflamme K, Owen AN, Devlin EE, Yang MQ, Wong C, Steiner LA, Garrett LJ, Elnitski L, Gallagher PG, Bodine DM. Functional Analysis of a Novel cis-Acting Regulatory Region within the Human Ankyrin Gene (ANK-1) Promoter. Molecular And Cellular Biology 2010, 30: 3493-3502. PMID: 20479128, PMCID: PMC2897556, DOI: 10.1128/mcb.00119-10.Peer-Reviewed Original ResearchMeSH Keywords5' Untranslated RegionsAnimalsAnkyrinsBase SequenceBinding SitesCell-Free SystemConsensus SequenceDNADNA PrimersGene LibraryHumansIn Vitro TechniquesMiceMice, TransgenicMolecular Sequence DataPromoter Regions, GeneticRegulatory Sequences, Nucleic AcidSequence DeletionSequence Homology, Nucleic AcidTATA-Box Binding ProteinTranscription Factor TFIIDTranscription, GeneticConceptsCell-free transcriptionPromoter functionGene promoterDinucleotide deletionANK-1 geneNovel regulatory elementFunctional promoter sequencesNovel functional motifsTransgenic mouse assaysPreinitiation complexRegulatory sequencesPromoter sequencesRegulatory regionsRegulatory elementsFunctional motifsUntranslated regionWild typeFunctional analysisAdditional sequencesDegenerate sequencePromoterMutationsTranscriptionDeletionSequence
2007
An 11-amino acid β-hairpin loop in the cytoplasmic domain of band 3 is responsible for ankyrin binding in mouse erythrocytes
Stefanovic M, Markham NO, Parry EM, Garrett-Beal LJ, Cline AP, Gallagher PG, Low PS, Bodine DM. An 11-amino acid β-hairpin loop in the cytoplasmic domain of band 3 is responsible for ankyrin binding in mouse erythrocytes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2007, 104: 13972-13977. PMID: 17715300, PMCID: PMC1950715, DOI: 10.1073/pnas.0706266104.Peer-Reviewed Original ResearchConceptsCytoplasmic domainBeta-hairpin loopSpectrin-actinPlasma membraneBand 3Transmembrane protein band 3Β-hairpin loopProtein band 3Uncharacterized interactionMembrane proteinsProtein ankyrinCytoskeletal networkMembrane cytoskeletonCytoskeletal systemAnkyrinCurrent structural modelsErythrocyte membranesSLC4A1 geneLoop deletionComplete deficiencyDeletionMembraneMouse erythrocytesStructural supportDomain
2005
A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis
Gallagher PG, Nilson DG, Wong C, Weisbein JL, Garrett-Beal LJ, Eber SW, Bodine DM. A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis. Human Molecular Genetics 2005, 14: 2501-2509. PMID: 16037067, DOI: 10.1093/hmg/ddi254.Peer-Reviewed Original ResearchMeSH KeywordsAnkyrinsBase CompositionDNA PrimersErythrocyte MembraneGene Expression RegulationGenes, ReporterHumansPeptide Chain Initiation, TranslationalPolymerase Chain ReactionPolymorphism, Single-Stranded ConformationalPromoter Regions, GeneticSequence DeletionSpherocytosis, HereditaryTATA BoxTranscription Factor TFIIDTranscription, GeneticConceptsTFIID complex formationTATA-binding proteinTranscription initiation siteGene expressionAnkyrin promoterCis elementsInitiation siteCore promoter DNAMultiple transcription initiation sitesPreinitiation complex formationStart site utilizationComplex formationSite utilizationAlters gene expressionTFIID complexFunctional Sp1Promoter DNATranscription initiationTypes of promotersErythroid promoterMammalian promotersGene transcriptionTG deletionMutant promotersReporter gene
1993
Poikilocytic Hereditary Elliptocytosis Associated With Spectrin Alexandria: An al/50b Kd Variant That Is Caused by a Single Amino Acid Deletion
Gallagher P, Roberts W, Benoit L, Speicher D, Marchesi S, Forget B. Poikilocytic Hereditary Elliptocytosis Associated With Spectrin Alexandria: An al/50b Kd Variant That Is Caused by a Single Amino Acid Deletion. Blood 1993, 82: 2210-2215. PMID: 8400271, DOI: 10.1182/blood.v82.7.2210.2210.Peer-Reviewed Original ResearchConceptsRed blood cellsHereditary elliptocytosisPolymerase chain reactionHeterogeneous disorderBlood cellsSingle amino acid deletionImpaired abilityDifferent severityChain reactionKD variantAffected individualsAlpha iAbnormal peptideAmino acid deletionSpectrin dimer self-associationProteolytic cleavage sitesResidues 470KD peptidePosition 470Limited tryptic digestionAcid deletionProteolytic cleavageErythrocyte membranesAmino acid sequence analysisIndividuals