2010
Mutation of a barrier insulator in the human ankyrin-1 gene is associated with hereditary spherocytosis
Gallagher PG, Steiner LA, Liem RI, Owen AN, Cline AP, Seidel NE, Garrett LJ, Bodine DM. Mutation of a barrier insulator in the human ankyrin-1 gene is associated with hereditary spherocytosis. Journal Of Clinical Investigation 2010, 120: 4453-4465. PMID: 21099109, PMCID: PMC2993586, DOI: 10.1172/jci42240.Peer-Reviewed Original ResearchConceptsAnkyrin-1 geneBarrier insulatorsTransgenic miceUpstream regionErythroid promoterChromatin configurationGene promoterErythroid cellsHereditary spherocytosisPotential pathogenetic mechanismsHuman ankyrin-1 geneHuman erythroid cell lineBarrier-associated proteinsErythroid cell linesPathogenetic mechanismsCommon causeUniform expressionNucleotide substitutionsRegion upstreamPromoter actsHuman diseasesPromoterCell linesPrimary cellsGenes
1994
Localization of the human α-fodrin gene (SPTAN1) to 9q33→q34 by fluorescence in situ hybridization
Upender M, Gallagher PG, Moon RT, Ward DC, Forget BG. Localization of the human α-fodrin gene (SPTAN1) to 9q33→q34 by fluorescence in situ hybridization. Cytogenetic And Genome Research 1994, 66: 39-41. PMID: 8275706, DOI: 10.1159/000133660.Peer-Reviewed Original ResearchMeSH KeywordsCarrier ProteinsCell LineChromosome MappingChromosomes, Human, Pair 22Chromosomes, Human, Pair 9Gene LibraryHumansIn Situ Hybridization, FluorescenceLeukemia, Myelogenous, Chronic, BCR-ABL PositiveLymphocyte ActivationLymphocytesMicrofilament ProteinsMultigene FamilySpectrinTranslocation, GeneticTumor Cells, CulturedConceptsSitu hybridizationCell linesTranslocation breakpoint regionChronic myelogenous leukemia cell lineHuman chronic myelogenous leukemia cell lineSpectrin geneMyelogenous leukemia cell lineLeukemia cell linesGenesTranslocation breakpointsChromosomesBreakpoint regionHybridizationLociFluorescencePh1 chromosomeLinesPhiladelphia chromosomeK562BreakpointsLocalizationMembers