2018
Altered Splicing from a Mutated Alternate Branch Point Is Common in Severe Alpha-Spectrin Linked Inherited Anemia
Lezon-Geyda K, Schulz V, Maksimova Y, Gallagher P. Altered Splicing from a Mutated Alternate Branch Point Is Common in Severe Alpha-Spectrin Linked Inherited Anemia. Blood 2018, 132: 503. DOI: 10.1182/blood-2018-99-117752.Peer-Reviewed Original ResearchMRNA transcriptsTermination codonK562 cellsMinigene assayIntron 30Precise genetic basisAcceptor sitesInsertion/deletion mutationsHereditary pyropoikilocytosisWhole-genome sequencingNMD inhibitorsAcceptor splice siteDiagnostic gene panelsGenome databaseMRNA splicingWild-type minigeneConsensus sitesAltered splicingExon 31Genetic basisTranscript productionErythroid cellsGene manipulationGenetic analysisWT background
2008
Chromatin Architecture and Transcription Factor Occupancy of Erythrocyte Membrane Genes Studied by Chromatin Immunoprecipitation on Microarrays (ChIP-chip)
Steiner L, Maksimova Y, Wong C, Schulz V, Gallagher P. Chromatin Architecture and Transcription Factor Occupancy of Erythrocyte Membrane Genes Studied by Chromatin Immunoprecipitation on Microarrays (ChIP-chip). Blood 2008, 112: 2436. DOI: 10.1182/blood.v112.11.2436.2436.Peer-Reviewed Original ResearchErythrocyte membrane protein genesNF-E2 siteMembrane protein geneGATA-1 sitesTranscriptional start siteChromatin architectureTranscription factor bindingPrimary erythroid cellsGATA-1Protein geneChromatin immunoprecipitationTranscription factorsErythroid cellsH3K4me3 enrichmentFlanking DNAFactor bindingDNA sequencesK562 cellsErythroid transcription factor GATA-1Mapping protein-DNA interactionsNon-erythroid cell linesTranscription factor GATA-1Quantitative ChIP analysisTranscription factor occupancyGenome-wide scale