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
2013
Disorders of red cell volume regulation
Gallagher PG. Disorders of red cell volume regulation. Current Opinion In Hematology 2013, 20: 201-207. PMID: 23519154, DOI: 10.1097/moh.0b013e32835f6870.Peer-Reviewed Original ResearchConceptsVolume regulationCassette family memberErythrocyte volume homeostasisErythrocyte hydrationCell volume regulationMechanosensory proteinsGenetic basisSolute homeostasisMechanotransduction pathwaysGlucose transporterNew therapeutic targetsErythrocyte volume regulationNovel mechanismCellular waterCellular dehydrationRecent insightsCellular volumeHomeostasisRegulationAnion transportersTherapeutic targetTransportersPathwayVolume homeostasisRecent studies