2005
A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis
Gallagher PG, Nilson DG, Wong C, Weisbein JL, Garrett-Beal LJ, Eber SW, Bodine DM. A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis. Human Molecular Genetics 2005, 14: 2501-2509. PMID: 16037067, DOI: 10.1093/hmg/ddi254.Peer-Reviewed Original ResearchMeSH KeywordsAnkyrinsBase CompositionDNA PrimersErythrocyte MembraneGene Expression RegulationGenes, ReporterHumansPeptide Chain Initiation, TranslationalPolymerase Chain ReactionPolymorphism, Single-Stranded ConformationalPromoter Regions, GeneticSequence DeletionSpherocytosis, HereditaryTATA BoxTranscription Factor TFIIDTranscription, GeneticConceptsTFIID complex formationTATA-binding proteinTranscription initiation siteGene expressionAnkyrin promoterCis elementsInitiation siteCore promoter DNAMultiple transcription initiation sitesPreinitiation complex formationStart site utilizationComplex formationSite utilizationAlters gene expressionTFIID complexFunctional Sp1Promoter DNATranscription initiationTypes of promotersErythroid promoterMammalian promotersGene transcriptionTG deletionMutant promotersReporter gene
2000
A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis.
Gallagher P, Ferreira J, Costa F, Saad S, Forget B. A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis. British Journal Of Haematology 2000, 111: 1190-3. PMID: 11167760, DOI: 10.1046/j.1365-2141.2000.02441.x.Peer-Reviewed Original ResearchMeSH KeywordsAnkyrinsFemaleFrameshift MutationGermanyHaplotypesHumansItalyMalePolymerase Chain ReactionPolymorphism, Single-Stranded ConformationalPortugalSpherocytosis, HereditarySplenectomyA recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis
Gallagher P, Ferreira J, Costa F, Saad S, Forget B. A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis. British Journal Of Haematology 2000, 111: 1190-1193. DOI: 10.1111/j.1365-2141.2000.02441.x.Peer-Reviewed Original ResearchMeSH KeywordsAnkyrinsFemaleFrameshift MutationGermanyHaplotypesHumansItalyMalePolymerase Chain ReactionPolymorphism, Single-Stranded ConformationalPortugalSpherocytosis, HereditarySplenectomy
1996
Ankyrin–1 mutations are a major cause of dominant and recessive hereditary spherocytosis
Eber S, Gonzalez J, Lux M, Scarpa A, Tse W, Dornwell M, Herbers J, Kugler W, Ozcan R, Pekrun A, Gallagher P, Schroter W, Forget B, Lux S. Ankyrin–1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nature Genetics 1996, 13: 214-218. PMID: 8640229, DOI: 10.1038/ng0696-214.Peer-Reviewed Original Research