2013
The Patient With Transfusion-Dependent Anemia: Diagnosis and Directed Management With Targeted Next Generation Sequencing and Copy Number Analysis
Schulz V, Maksimova Y, Lezon-Geyda K, Gallagher P. The Patient With Transfusion-Dependent Anemia: Diagnosis and Directed Management With Targeted Next Generation Sequencing and Copy Number Analysis. Blood 2013, 122: 3419. DOI: 10.1182/blood.v122.21.3419.3419.Peer-Reviewed Original ResearchTransfusion-dependent anemiaMarrow failure syndromesBone marrow failure syndromesFailure syndromeCongenital dyserythropoietic anemiaBi-allelic mutationsIron overloadHemolytic anemiaGene mutationsNext-generation sequencingDyserythropoietic anemiaComplications of anemiaBone marrow findingsMissense mutationsTargeted Next-Generation SequencingMonths of ageSame clinical phenotypeExpectant managementWorking diagnosisChronic transfusionLiver failureMarrow findingsAppropriate therapyCommon diagnosisImmunodeficiency syndrome
2007
Regulators of Erythrocyte Volume as Modifiers in Sickle Cell Disease: The Gardos Channel.
Tian C, Okam M, Alper S, Steinberg M, Brugnara C, Gallagher P. Regulators of Erythrocyte Volume as Modifiers in Sickle Cell Disease: The Gardos Channel. Blood 2007, 110: 3387. DOI: 10.1182/blood.v110.11.3387.3387.Peer-Reviewed Original ResearchModifier genesMissense mutationsChannel genesSequence analysisErythrocyte hydrationSmaller mRNA speciesGenetic variantsReverse transcription-PCR analysisNucleotide sequence analysisBand 3Disease-associated mutationsCore promoter regionFunction of transportersBand 3 geneAquaporin-1 geneAberrant mRNAsSmaller transcriptMRNA speciesIdentification of targetsAquaporin 3 genePromoter regionSplice junctionsChannel proteinsChannel mRNARegion exonsIdentification and Characterization of α-Spectrin Mutations Associated with Inherited Hemolytic Anemia.
Tolpinrud W, Gaetani M, Maksimova Y, Mootien S, Harper S, Forget B, Speicher D, Gallagher P. Identification and Characterization of α-Spectrin Mutations Associated with Inherited Hemolytic Anemia. Blood 2007, 110: 1706. DOI: 10.1182/blood.v110.11.1706.1706.Peer-Reviewed Original ResearchWild typeMissense mutationsSelf-association siteMembrane skeletonΑ-spectrinHereditary elliptocytosisProline substitutionSpectrin peptidesHereditary pyropoikilocytosisCommon protein polymorphismHPLC gel filtrationHuman disease pathogenesisCharacterization of variantsErythrocyte membrane skeletonMajor structural componentTriple-helical configurationMembrane biologyDifferent missense mutationsSpectrin genePopulation 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