2013
Whole-exome sequencing identifies a novel somatic mutation in MMP8 associated with a t(1;22)-acute megakaryoblastic leukemia
Kim Y, Schulz VP, Satake N, Gruber TA, Teixeira AM, Halene S, Gallagher PG, Krause DS. Whole-exome sequencing identifies a novel somatic mutation in MMP8 associated with a t(1;22)-acute megakaryoblastic leukemia. Leukemia 2013, 28: 945-948. PMID: 24157583, PMCID: PMC3981934, DOI: 10.1038/leu.2013.314.Peer-Reviewed Original Research
2008
Correction of a splice-site mutation in the beta-globin gene stimulated by triplex-forming peptide nucleic acids
Chin JY, Kuan JY, Lonkar PS, Krause DS, Seidman MM, Peterson KR, Nielsen PE, Kole R, Glazer PM. Correction of a splice-site mutation in the beta-globin gene stimulated by triplex-forming peptide nucleic acids. Proceedings Of The National Academy Of Sciences Of The United States Of America 2008, 105: 13514-13519. PMID: 18757759, PMCID: PMC2533221, DOI: 10.1073/pnas.0711793105.Peer-Reviewed Original ResearchConceptsBeta-globin geneEndogenous beta-globin locusSplice site mutationHuman cellsPrimary hematopoietic progenitor cellsBeta-globin locusAltered helical structureHuman beta-globin geneSingle base pair changeSingle base-pair modificationTriplex-forming peptide nucleic acidsDonor DNA moleculesBase pair changesCell cycle stageDisease-related genesDonor DNA fragmentsNucleic acidsProper splicingSite-specific bindingSite-specific modificationMammalian cellsHematopoietic progenitor cellsDNA repairSecond intronGene locus