2016
Cystic Fibrosis Lung Immunity: The Role of the Macrophage
Bruscia EM, Bonfield TL. Cystic Fibrosis Lung Immunity: The Role of the Macrophage. Journal Of Innate Immunity 2016, 8: 550-563. PMID: 27336915, PMCID: PMC5089923, DOI: 10.1159/000446825.Peer-Reviewed Original ResearchConceptsLung homeostasisCystic fibrosis pathophysiologyTranscriptional shiftMortality of patientsEnvironmental cuesAdaptive immune networkModifier genesMΦ functionMajor morbidityExcessive inflammationMΦ phenotypeLung infectionCF lungCFTR dysfunctionMajor playersHomeostasisDiseaseMacrophagesIntrinsic changesGenesImmune networkPhenotypeMorbidityInflammationPatients
2005
In Vitro Restoration of Functional SMN Protein in Human Trophoblast Cells Affected by Spinal Muscular Atrophy by Small Fragment Homologous Replacement
Sangiuolo F, Filareto A, Spitalieri P, Scaldaferri ML, Mango R, Bruscia E, Citro G, Brunetti E, De Felici M, Novelli G. In Vitro Restoration of Functional SMN Protein in Human Trophoblast Cells Affected by Spinal Muscular Atrophy by Small Fragment Homologous Replacement. Human Gene Therapy 2005, 16: 869-880. PMID: 16000068, DOI: 10.1089/hum.2005.16.869.Peer-Reviewed Original ResearchMeSH KeywordsCells, CulturedChorionic VilliCyclic AMP Response Element-Binding ProteinGene ExpressionGene TargetingGenotypeHumansImmunohistochemistryMicroinjectionsMuscular Atrophy, SpinalNerve Tissue ProteinsPhenotypePoint MutationRNA-Binding ProteinsSMN Complex ProteinsSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 ProteinTransfectionTrophoblastsConceptsSmall fragment homologous replacementSMN proteinHomologous replacementFunctional SMN proteinExon 7SMN gene expressionFull-length SMN mRNASpinal muscular atrophyGene modification approachesDuplicate genesGenomic organizationMRNA maturationMotor neuron 1 geneGene expressionRNA dataHuman trophoblast cellsUntransfected controlsGenesTarget modificationProteinSMA cellsGenomeFetal chorionic villiReal-time polymerase chain reactionSMN2 gene
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