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
2002
Schizosaccharomyces pombe pfh1+Encodes an Essential 5′ to 3′ DNA Helicase That Is a Member of thePIF1 Subfamily of DNA Helicases
Zhou J, Qi H, Schulz V, Mateyak M, Monson E, Zakian V. Schizosaccharomyces pombe pfh1+Encodes an Essential 5′ to 3′ DNA Helicase That Is a Member of thePIF1 Subfamily of DNA Helicases. Molecular Biology Of The Cell 2002, 13: 2180-2191. PMID: 12058079, PMCID: PMC117634, DOI: 10.1091/mbc.02-02-0021.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsDNA HelicasesDNA PrimersDNA, MitochondrialDNA, RibosomalDNA-Binding ProteinsHumansMolecular Sequence DataPolycomb-Group ProteinsProteinsRestriction MappingSaccharomyces cerevisiae ProteinsSchizosaccharomycesSchizosaccharomyces pombe ProteinsTranscription FactorsConceptsS. pombe proteinPombe proteinsDNA helicaseHelicase activityTelomeric DNAS. cerevisiaeATPase/helicase activitySchizosaccharomyces pombe geneSole essential functionDNA helicase activityInvariant lysine residuePombe geneDNA helicasesMitochondrial DNADNA replicationMutant sporesCellular phenotypesHigh identityGenetic analysisEssential functionsSame phenotypePrototype memberHelicaseLysine residuesS phase