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
1999
Genomic structure, promoter characterisation and mutational analysis of the S100A7 gene: exclusion of a candidate for familial psoriasis susceptibility
Semprini S, Capon F, Bovolenta S, Bruscia E, Pizzuti A, Fabrizi G, Schietroma C, Zambruno G, Dallapiccola B, Novelli G. Genomic structure, promoter characterisation and mutational analysis of the S100A7 gene: exclusion of a candidate for familial psoriasis susceptibility. Human Genetics 1999, 104: 130-134. PMID: 10190323, DOI: 10.1007/s004390050925.Peer-Reviewed Original ResearchConceptsGenomic structureComplex gene clustersSp1-binding motifTranscription start siteStrong promoter activityPsoriasis susceptibilityΒ-galactosidase geneExon-intron boundariesGene clusterStart siteTATA boxGene promoterNucleotide variationsSingle-strand conformation polymorphismMutational analysisPromoter activityPromoter regionChromosome 1q21Sequencing techniquesS100A7 geneFunctional assaysGenesSets of primersDirect sequencing techniquePreferential association