2008
Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR).
Sangiuolo F, Scaldaferri ML, Filareto A, Spitalieri P, Guerra L, Favia M, Caroppo R, Mango R, Bruscia E, Gruenert DC, Casavola V, De Felici M, Novelli G. Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR). Frontiers In Bioscience-Landmark 2008, 13: 2989-99. PMID: 17981772, PMCID: PMC3725395, DOI: 10.2741/2904.Peer-Reviewed Original ResearchConceptsSmall fragment homologous replacementES cellsSmall DNA fragmentsGene functionHomologous replacementEmbryonic stem cell genomeMouse embryonic stem cell genomeGenomic DNAMurine ES cellsTissue-specific gene functionEndogenous genomic DNAMouse embryonic stem cellsSpecific genomic lociStem cell genomeNormal gene functionCFTR-dependent chloride effluxEmbryonic stem cellsDifferent cell lineagesGene correctionGenomic lociGenomic sequencesCFTR locusCell genomeDifferent genesCell lineages
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