2006
Assessment of cystic fibrosis transmembrane conductance regulator (CFTR) activity in CFTR-null mice after bone marrow transplantation
Bruscia EM, Price JE, Cheng EC, Weiner S, Caputo C, Ferreira EC, Egan ME, Krause DS. Assessment of cystic fibrosis transmembrane conductance regulator (CFTR) activity in CFTR-null mice after bone marrow transplantation. Proceedings Of The National Academy Of Sciences Of The United States Of America 2006, 103: 2965-2970. PMID: 16481627, PMCID: PMC1413802, DOI: 10.1073/pnas.0510758103.Peer-Reviewed Original ResearchConceptsCftr-/- miceEpithelial cellsNasal epitheliumBM-derived cellsBone marrow transplantationWild-type BMAirway epithelial cellsCystic fibrosis transmembrane conductance regulator (CFTR) activityCystic fibrosis miceRare epithelial cellsCftr-null miceMarrow transplantationBM transplantationFibrosis miceRespiratory tractCFTR activityGI tractBone marrowGastrointestinalChloride secretionCFTR-dependent chloride secretionIndividual miceTransplantationDifferent dosesMice
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 ResearchMeSH KeywordsAnemia, Sickle CellAnimalsBase SequenceCystic FibrosisDNAGene TargetingGenetic TherapyHumansMuscular Dystrophy, DuchenneConceptsSmall 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 analysisTowards the pharmacogenomics of cystic fibrosis
Sangiuolo F, DApice M, Bruscia E, Lucidi V, Novelli G. Towards the pharmacogenomics of cystic fibrosis. Pharmacogenomics 2002, 3: 75-87. PMID: 11966405, DOI: 10.1517/14622416.3.1.75.Peer-Reviewed Original ResearchMeSH KeywordsCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorGenetic TherapyGenomicsGenotypeHumansMutationPhenotypeConceptsCystic fibrosisPancreatic insufficiencyChronic obstructive lung diseaseRelated clinical diseasesObstructive lung diseaseElevated sweat chloride concentrationsExocrine pancreatic insufficiencySweat chloride concentrationCongenital bilateral absenceMultiorgan diseaseChronic pancreatitisClinical symptomsLung diseaseDrug therapyClinical diseaseClinical overlapRecessive genetic diseaseTherapeutic questionsBilateral absenceDrug efficacyDiseaseVas deferensTherapy approachesFibrosisSymptoms
1999
Gene transfection efficiency of tracheal epithelial cells by DC-Chol–DOPE/DNA complexes
Colosimo A, Serafino A, Sangiuolo F, Di Sario S, Bruscia E, Amicucci P, Novelli G, Dallapiccola B, Mossa G. Gene transfection efficiency of tracheal epithelial cells by DC-Chol–DOPE/DNA complexes. Biochimica Et Biophysica Acta 1999, 1419: 186-194. PMID: 10407070, DOI: 10.1016/s0005-2736(99)00067-x.Peer-Reviewed Original ResearchConceptsTransmission electron microscopyTransfection efficiencyDC-CholConfocal laser scanning microscopyCationic liposome/plasmid DNA complexesDNA complexesGene transfection efficiencyVivo gene therapyVitro gene transferPlasmid DNA complexesGene therapyDOPE liposomesElectron microscopyLiposome formulationsTracheal cellsGene transferLaser scanning microscopyCell linesMicroscopyTracheal epithelial cellsEpithelial cellsDramatic correlationScanning microscopyEfficiencyComplexes