2003
Sequence-specific modification of genomic DNA by small DNA fragments
Gruenert DC, Bruscia E, Novelli G, Colosimo A, Dallapiccola B, Sangiuolo F, Goncz KK. Sequence-specific modification of genomic DNA by small DNA fragments. Journal Of Clinical Investigation 2003, 112: 637-641. PMID: 12952908, PMCID: PMC182219, DOI: 10.1172/jci19773.Peer-Reviewed Original ResearchConceptsSmall fragment homologous replacementSequence-specific modificationSmall DNA fragmentsGenomic DNADNA fragmentsEndogenous genomic DNADuchenne muscular dystrophyTherapeutic modalitiesCystic fibrosisHomologous replacementGenomic editingMuscular dystrophyGenetic lociMouse cellsUnderlying mechanismPhenotypic analysisSpecific modificationsDNA
2002
Isolation of CF cell lines corrected at ΔF508-CFTR locus by SFHR-mediated targeting
Bruscia E, Sangiuolo F, Sinibaldi P, Goncz KK, Novelli G, Gruenert DC. Isolation of CF cell lines corrected at ΔF508-CFTR locus by SFHR-mediated targeting. Gene Therapy 2002, 9: 683-685. PMID: 12032687, DOI: 10.1038/sj.gt.3301741.Peer-Reviewed Original ResearchConceptsSmall fragment homologous replacementAllele-specific PCRPrimer extension productsCell linesCFTR mRNAHuman airway epithelial cellsAllele-specific PCR amplificationΔF508 mutationCF transmembrane conductance regulator (CFTR) proteinExon 10CF cell lineMutant cell linesPCR amplificationAirway epithelial cellsEpithelial cellsGenomic DNA fingerprintingEndogenous CFTRHomologous replacementRegulator proteinDNA fingerprint analysisGenomic DNAWT mRNADNA fragmentsΔF508 alleleSequence analysis