Search results for " gene S"

showing 10 items of 44 documents

Impact of a Plant Sterol- and Galactooligosaccharide-Enriched Beverage on Colonic Metabolism and Gut Microbiota Composition Using an In Vitro Dynamic…

2019

This document is he Accepted Manuscript version of a Published Work that appeared in final form in Journal of Agricultural and Food Chemistry, copyright © American Chemical Society after peer review and technical editing by the publisher. To access the final edited and published work see https://doi.org/10.1021/acs.jafc.9b04796

0106 biological sciencesmedicine.medical_treatmentButyrateGut flora01 natural scienceschemistry.chemical_compoundShort-chain fatty acidsmedicineFood science16S rRNA gene sequencingchemistry.chemical_classificationSterol metabolitesbiologyChemistryGalactooligosaccharidePrebiotic010401 analytical chemistryLachnospiraceaeGeneral ChemistryMetabolismbiology.organism_classificationSterol0104 chemical sciencesDynamic colonic fermentationPropionateLactateGeneral Agricultural and Biological Sciences010606 plant biology & botany
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The phospholipase DDHD1 as a new target in colorectal cancer therapy

2018

Background Our previous study demonstrates that Citrus-limon derived nanovesicles are able to decrease colon cancer cell viability, and that this effect is associated with the downregulation of the intracellular phospholipase DDHD domain-containing protein 1 (DDHD1). While few studies are currently available on the contribution of DDHD1 in neurological disorders, there is no information on its role in cancer. This study investigates the role of DDHD1 in colon cancer. Methods DDHD1 siRNAs and an overexpression vector were transfected into colorectal cancer and normal cells to downregulate or upregulate DDHD1 expression. In vitro and in vivo assays were performed to investigate the functional…

0301 basic medicineCancer ResearchColorectal cancerApoptosisMiceSettore BIO/13 - Biologia ApplicataGene Regulatory NetworksMolecular Targeted TherapyCitrus-limon nanovesicleTransfectionlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens3. Good healthCitrus-limon nanovesicles; Colorectal cancer; Phospholipase DDHD1; Oncology; Cancer ResearchOncologyPhospholipasesCitrus-limon nanovesicles; Colorectal cancer; Phospholipase DDHD1; Animals; Antineoplastic Agents; Apoptosis; Cell Line Tumor; Cell Proliferation; Colorectal Neoplasms; Computational Biology; Disease Models Animal; Female; Gene Expression Profiling; Gene Ontology; Gene Regulatory Networks; Gene Silencing; Humans; MAP Kinase Signaling System; Mice; Phospholipases; Signal Transduction; Xenograft Model Antitumor Assays; Biomarkers Tumor; Molecular Targeted TherapyFemaleColorectal NeoplasmsSignal TransductionMAP Kinase Signaling SystemAntineoplastic Agentslcsh:RC254-282Citrus-limon nanovesicles03 medical and health sciencesDownregulation and upregulationIn vivoCell Line TumorBiomarkers TumormedicineAnimalsHumansGene silencingGene SilencingPhospholipase DDHD1Cell Proliferationbusiness.industryCell growthGene Expression ProfilingResearchComputational BiologyCancermedicine.diseaseXenograft Model Antitumor AssaysColorectal cancerDisease Models AnimalGene Ontology030104 developmental biologyApoptosisCancer researchbusiness
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Active and Secretory IgA-Coated Bacterial Fractions Elucidate Dysbiosis in Clostridium difficile Infection

2016

C. difficile is a major enteric pathogen with worldwide distribution. Its expansion is associated with broad-spectrum antibiotics which disturb the normal gut microbiome. In this study, the DNA sequencing of highly active bacteria and bacteria opsonized by intestinal secretory immunoglobulin A (SIgA) separated from the whole bacterial community by FACS elucidated how the gut dysbiosis promotes C. difficile infection (CDI). Bacterial groups with inhibitory effects on C. difficile growth, such as Lactobacillales, were mostly inactive in the CDI patients. C. difficile was typical for the bacterial fraction opsonized by SIgA in patients with CDI, while Fusobacterium was characteristic for the S…

0301 basic medicineClostridium Cluster IVmedicine.drug_class030106 microbiologyAntibioticslcsh:QR1-502Microbiologylcsh:MicrobiologyantibioticsMicrobiologyHost-Microbe Biology03 medical and health sciencesClostridium difficile infectionmedicineMicrobiomeMolecular Biology16S rRNA gene sequencinghuman gut microbiomebiologyLactobacillalesdysbiosisClostridium difficilebiology.organism_classificationmedicine.diseaseQR1-502030104 developmental biologyBayesian networksFusobacteriumImmunologysecretory immunoglobulin ADysbiosisBacteriafluorescence-activated cell sortingResearch ArticlemSphere
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9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

2016

International audience; The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of the gene content of the microdeletion and reverse phenotyping. Thanks to a national and international call for collaboration by Achropuce and Decipher, we recruited four patients carrying de novo overlapping deletions of chromosome 9q33.3q34.11, including the STXBP1, the LMX1B and the ENG genes. We restrained the selection to these three genes because the effects of their haploinsufficency are well described in the literature and easily recognizable clinically. All deletions were detected by array-CGH …

0301 basic medicineMale[ SDV.MHEP.PED ] Life Sciences [q-bio]/Human health and pathology/PediatricsHaploinsufficiencycerebral hypomyelinationwest-syndromeBioinformaticsCraniofacial Abnormalities0302 clinical medicineIntellectual disabilitySTXBP1ChildGenetics (clinical)Nail patella syndromeGeneticsEndoglinSyndrome3. Good healthdevelopmental delayPhenotypeintellectual disabilityMedical geneticsFemaleChromosome DeletionHaploinsufficiencyChromosomes Human Pair 9medicine.medical_specialtyAdolescentLIM-Homeodomain ProteinsBiologyContiguous gene syndromeArticle03 medical and health sciencesMunc18 ProteinsGenetic linkageGeneticsmedicineHumansde-novo mutations[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/PediatricsdiseaseEpilepsyinfantile epileptic encephalopathyassociationdeletionsmedicine.diseaseHuman genetics030104 developmental biologynail-patella syndrome030217 neurology & neurosurgeryTranscription Factors
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The Metabolic Building Blocks of a Minimal Cell

2020

This article belongs to the Section Evolutionary Biology.

0301 basic medicineMinimal gene set machineryMetabolic networkBacterial genome sizeComputational biologyMetabolic networksBiologyGenomeGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciences0302 clinical medicineminimal gene set machinerylcsh:QH301-705.5Nasuia deltocephalinicolaGeneral Immunology and Microbiologydirected acyclic graphsDirected acyclic graphDirected acyclic graphs030104 developmental biologylcsh:Biology (General)Essential geneminimal cellsMinimal cellsCore (graph theory)metabolic networksGraph (abstract data type)General Agricultural and Biological Sciences030217 neurology & neurosurgeryBiology
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NF1 microdeletion syndrome: case report of two new patients

2019

Abstract Background 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype than the NF1 general population. Case presentation We hereby describe the clinical and molecular features of two girls (aged 2 and 4 years, respectively), with non-mosaic atypical deletions. Patient 1 showed fifteen café-au-lait spots and axillary freckling, as well as a Lisch nodule in the left eye, strabismus, high-arched palate, malocclusion, severe kyphoscoliosis, bilateral calcaneovalgus fo…

0301 basic medicinePathologymedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesGenotype-phenotype correlationNeurofibromatosesLisch noduleContiguous gene syndromePopulationCase ReportContiguous gene syndromeChromosomesCraniofacial Abnormalities03 medical and health sciences0302 clinical medicineAtypical deletionIntellectual DisabilitymedicineHumansMultiplex ligation-dependent probe amplificationNeurofibromatosiseducationChildPreschoolNeurofibromatoseseducation.field_of_studybusiness.industryLearning DisabilitiesPair 17lcsh:RJ1-570Axillary frecklinglcsh:Pediatricsmedicine.diseaseeye diseasesMLPA030104 developmental biologyNF1 geneChild PreschoolFemalemedicine.symptomChromosome DeletionbusinessAtypical deletion; Contiguous gene syndrome; Genotype-phenotype correlation; MLPA; NF1 gene; Child Preschool; Chromosome Deletion; Chromosomes Human Pair 17; Craniofacial Abnormalities; Female; Humans; Intellectual Disability; Learning Disabilities; Neurofibromatoses030217 neurology & neurosurgeryChromosomes Human Pair 17Comparative genomic hybridizationHumanItalian Journal of Pediatrics
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Nuclear inclusions of pathogenic ataxin-1 induce oxidative stress and perturb the protein synthesis machinery

2020

Spinocerebellar ataxia type-1 (SCA1) is caused by an abnormally expanded polyglutamine (polyQ) tract in ataxin-1. These expansions are responsible for protein misfolding and self-assembly into intranuclear inclusion bodies (IIBs) that are somehow linked to neuronal death. However, owing to lack of a suitable cellular model, the downstream consequences of IIB formation are yet to be resolved. Here, we describe a nuclear protein aggregation model of pathogenic human ataxin-1 and characterize IIB effects. Using an inducible Sleeping Beauty transposon system, we overexpressed the ATXN1(Q82) gene in human mesenchymal stem cells that are resistant to the early cytotoxic effects caused by the expr…

0301 basic medicineSCA1 Spinocerebellar ataxia type-1Intranuclear Inclusion BodiesClinical BiochemistryMSC mesenchymal stem cellProtein aggregationBiochemistry0302 clinical medicineMutant proteinProtein biosynthesisDE differentially expressed genesNuclear proteinlcsh:QH301-705.5FTIR Fourier-transform infrared spectroscopyAtaxin-1lcsh:R5-920biologyChemistryNuclear ProteinspolyQ polyglutamineRibosomeCell biologySB Sleeping BeautyRibosome ; Polyglutamine ; Ataxin-1 ; Oxidative stress ; Transposon ; Sleeping beauty transposon ; Protein networkSpinocerebellar ataxiaProtein foldingCellular modelFunction and Dysfunction of the Nervous Systemlcsh:Medicine (General)Research PaperiPSC induced pluripotent stem cellAtaxin 1Nerve Tissue ProteinsPPI protein-protein interaction03 medical and health sciencesROS reactive oxygen speciesProtein networkSleeping beauty transposonGSEA Gene Set Enrichment AnalysismedicineHumansNPC neural progenitor cellOrganic Chemistrymedicine.diseaseAFM atomic force microscopyOxidative Stress030104 developmental biologylcsh:Biology (General)IIBs intranuclear inclusion bodiesMS mass spectrometryCardiovascular and Metabolic Diseasesbiology.proteinPolyglutamine030217 neurology & neurosurgery
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An outbreak ofShewanella putrefaciensgroup in wild eelsAnguilla anguillaL. favoured by hypoxic aquatic environments

2016

Microbiological analyses were conducted on wild eels from the L′Albufera Lake (Spain). A total of 174 individuals were collected in two surveys (i.e. year 2008 and autumn–winter 2014) among those caught by local fishermen into the lagoon. The prevalence of Shewanella putrefaciens group was 1.7% in 2008 and rose above 32% in 2014. It was due to an outbreak of shewanellosis that presented a morbidity rate of 64%. S. putrefaciens group strains were isolated as pure cultures from the sick eels that showed white ulcers surrounded by a reddish inflammation, damage of the mouth, extensive skin discoloration, exophthalmia, ascites and bad odour. The S. putrefaciens group was recovered from freshwat…

0301 basic medicineVeterinary medicineVeterinary (miscellaneous)Fresh WaterShewanella putrefaciensAquatic ScienceBiologyShewanella putrefaciensBody weightDisease OutbreaksFish Diseases03 medical and health sciencesAnimalsAnaerobiosisCumulative mortalityEcologyAquatic ecosystemMortality rateOutbreakHypoxia (environmental)04 agricultural and veterinary sciencesAnguillabiology.organism_classification030104 developmental biologySpain040102 fisheries16s rrna gene sequencing0401 agriculture forestry and fisheriesSeasonsGram-Negative Bacterial InfectionsJournal of Fish Diseases
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Complete Genome Sequence of KPC-3- and CTX-M-15-Producing Klebsiella pneumoniae Sequence Type 307.

2016

ABSTRACT Klebsiella pneumoniae sequence type (ST) 307, carrying bla KPC-3 , bla CTX-M-15 , bla OXA-1 , aac(6′)-Ib-cr , and qnrB 1 genes, is replacing the predominant hyperepidemic ST258 clone in Italy. Whole-genome and complete plasmid sequencing of one ST307 strain was performed and new features were identified.

0301 basic medicineclone (Java method)KlebsiellaSettore MED/07 - Microbiologia E Microbiologia ClinicaKlebsiella pneumoniae030106 microbiology610 Medicine & healthBiologyBioinformatics03 medical and health sciencesPlasmidGeneticsProkaryotes610 Medicine & healthMolecular BiologyGeneSequence (medicine)GeneticsWhole genome sequencingStrain (chemistry)Klebsiella pneumoniae; PPC; ST 307ST 307biology.organism_classification3. Good healthKlebsiella pneumoniaePlasmids antimicrobial resistance; Klebisella pneumoniae; gene sequencyPPC
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Gold nanostar–polymer hybrids for siRNA delivery: Polymer design towards colloidal stability and in vitro studies on breast cancer cells

2017

To overcome the low bioavailability of siRNA (small interfering RNA) and to improve their transfection efficiency, the use of non-viral delivery carriers is today a feasible approach to transform the discovery of these incredibly potent and versatile drugs into clinical practice. Polymer-modified gold nanoconstructs (AuNCs) are currently viewed as efficient and safe intracellular delivery carriers for siRNA, as they have the possibility to conjugate the ability to stably entrap and deliver siRNAs inside cells with the advantages of gold nanoparticles, which can act as theranostic agents and radiotherapy enhancers through laser-induced hyperthermia. In this study, AuNCs were prepared by coat…

3003siRNA deliverySmall interfering RNAPolymersMetal NanoparticlesPharmaceutical ScienceGold Colloid02 engineering and technologyPolyethylene Glycol01 natural sciencesPolyethylene GlycolsGold Colloidchemistry.chemical_compoundDrug Delivery SystemsMCF-7 CellDrug StabilityCoatingRNA Small InterferingPolymerDrug Carrierchemistry.chemical_classificationDrug CarriersTumorLipoic acidGold nanostarPolymer021001 nanoscience & nanotechnologyColloidal goldMCF-7 Cells0210 nano-technologyDrug carrierHydrophobic and Hydrophilic InteractionsBreast NeoplasmHumanBiological AvailabilityReproducibility of ResultBreast NeoplasmsNanotechnologyPolyethylene glycolengineering.materialSmall InterferingTransfection010402 general chemistryCell LineHydrophobic and Hydrophilic InteractionMetal NanoparticleCell Line TumorAmphiphileHumansGene SilencingParticle SizeGold nanostarsReproducibility of ResultsGold nanostars; Lipoic acid; MCF-7; PEG; PHEA; siRNA delivery; Biological Availability; Breast Neoplasms; Cell Line; Tumor; Drug Carriers; Drug Delivery Systems; Drug Stability; Gene Silencing; Gold; Gold Colloid; Humans; Hydrophobic and Hydrophilic Interactions; MCF-7 Cells; Metal Nanoparticles; Particle Size; Polyethylene Glycols; Polymers; RNA; Small Interfering; Reproducibility of Results; Transfection; 3003PHEAPEG0104 chemical scienceschemistrySettore CHIM/09 - Farmaceutico Tecnologico ApplicativoengineeringRNAGoldMCF-7Drug Delivery SystemInternational Journal of Pharmaceutics
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