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 exons
2005
The Human Alpha Hemoglobin Stabilizing Protein (AHSP) Gene Locus in EKLF-Deficient Erythroid Cells.
Pilon A, Zhou D, Weiss M, Townes T, Bodine D, Gallagher P. The Human Alpha Hemoglobin Stabilizing Protein (AHSP) Gene Locus in EKLF-Deficient Erythroid Cells. Blood 2005, 106: 1740. DOI: 10.1182/blood.v106.11.1740.1740.Peer-Reviewed Original ResearchCACCC siteErythroid cellsWild typeModifier genesDNase I hypersensitive site mappingLocal chromatin structureΒ-globin transcriptionErythroid-specific proteinΒ-globin gene promoterDNA-protein complexesFetal liver cellsTranscription factor EKLFChromatin immunoprecipitation analysisΒ-globin sequencesHypersensitive site mappingFetal liverMobility shift assaysPromoter-luciferase reporter plasmidProximal CACCC boxFetal liver DNACore promoter regionAHSP promoterDeficient fetal liver cellsEKLF geneChromatin modulators