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showing 10 items of 10618 documents

Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA G…

2020

Background: Congenital heart defects (CHDs) are present in about 40&ndash

0301 basic medicineVEGFAAdultHeart Defects CongenitalMaleVascular Endothelial Growth Factor ADown syndromelcsh:QH426-470AdolescentChromosomes Human Pair 21Down syndromeSNPSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideArticle03 medical and health sciencesHeart disorder0302 clinical medicineGenotypeGeneticsmedicineHumansGeneGenetics (clinical)IFNRReceptors InterferonGeneticsmedicine.diseasePhenotypeHeart defectlcsh:GeneticsVascular endothelial growth factor A030104 developmental biologySettore MED/03 - Genetica Medica030220 oncology & carcinogenesisMultigene Familyheart defectsFemaleChromosome 21SNPsGenes
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Impact of temperature and soil type on Mycobacterium bovis survival in the environment

2017

Mycobacterium bovis, the causative agent of the bovine tuberculosis (bTB), mainly affects cattle, its natural reservoir, but also a wide range of domestic and wild mammals. Besides direct transmission via contaminated aerosols, indirect transmission of the M. bovis between wildlife and livestock might occur by inhalation or ingestion of environmental substrates contaminated through infected animal shedding. We monitored the survival of M. bovis in two soil samples chosen for their contrasted physical and-chemical properties (i.e. pH, clay content). The population of M. bovis spiked in sterile soils was enumerated by a culture-based method after 14, 30, 60, 90, 120 and 150 days of incubation…

0301 basic medicineVeterinary medicineTime FactorsPulmonology[SDV]Life Sciences [q-bio]lcsh:MedicineArtificial Gene Amplification and ExtensionSoil ChemistryPolymerase Chain ReactionSoilZoonosesMedicine and Health SciencesBovine Tuberculosislcsh:ScienceDNA extractionIncubationMammals2. Zero hungereducation.field_of_studyMycobacterium bovisMultidisciplinaryTemperatureSoil chemistryAgricultureRuminantsSoil typeActinobacteriaChemistrymycobacterium bovisInfectious DiseasesPhysical SciencesVertebratesLivestocktuberculinResearch ArticleLivestock030106 microbiologyPopulationSoil ScienceTuberculinBiology03 medical and health sciencesExtraction techniquesBovinesEnvironmental ChemistryAnimalsNatural reservoirMolecular Biology TechniqueseducationMolecular BiologytuberculineMicrobial Viability[ SDV ] Life Sciences [q-bio]Bacteriabusiness.industrylcsh:REcology and Environmental SciencesOrganismsBiology and Life Sciencesbiology.organism_classificationResearch and analysis methods13. Climate actionAmniotesRespiratory Infectionstuberculose bovinelcsh:QCattlebusiness
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High Nutrient Concentration Can Induce Virulence Factor Expression and Cause Higher Virulence in an Environmentally Transmitted Pathogen

2016

Environmentally transmitted opportunistic pathogens shuttle between two substantially different environments: outside-host and within-host habitats. These environments differ from each other especially with respect to nutrient availability. Consequently, the pathogens are required to regulate their behavior in response to environmental cues in order to survive, but how nutrients control the virulence in opportunistic pathogens is still poorly understood. In this study, we examined how nutrient level in the outside-host environment affects the gene expression of putative virulence factors of the opportunistic fish pathogen Flavobacterium columnare. The impact of environmental nutrient concen…

0301 basic medicineVirulence Factors030106 microbiologyvirulence factorsSoil ScienceVirulenceBiologyReal-Time Polymerase Chain ReactionFlavobacteriumVirulence factorflavobacterium columnareMicrobiologyFish Diseases03 medical and health sciencesMicrobial ecologynutrientscolony typeAnimalsCollagenasesPathogenGeneEcology Evolution Behavior and SystematicsChondroitin LyasesEcologyHost (biology)RT-qPCREnvironmental Exposurechondroitinasebiology.organism_classificationcollagenase030104 developmental biologyFoodOncorhynchus mykissFlavobacterium columnareWater MicrobiologyBacteriaMicrobial Ecology
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VDBP, CYP27B1, and 25-Hydroxyvitamin D Gene Polymorphism Analyses in a Group of Sicilian Multiple Sclerosis Patients

2016

Multiple sclerosis (MS) is a chronic demyelinating disease of central nervous system regarded as one of the most common causes of neurological disability in young adults. The exact etiology of MS is not yet known, although epidemiological data indicate that both genetic susceptibility and environmental exposure are involved. A poor vitamin D status has been proposed as the most attractive environmental factor. Several evidence have highlighted the importance of mutations in vitamin D-regulating genes for vitamin D status. The purpose of our study was to assess the genetic variants of VDBP and CYP27B1 in MS patients and in a control group. A total of 192 subjects, including 100 MS patients a…

0301 basic medicineVitaminAdultMalemedicine.medical_specialtyMultiple SclerosisVitamin D-binding proteinBiologyBiochemistryVDBP polymorphism03 medical and health scienceschemistry.chemical_compound0302 clinical medicineCYP27B1Internal medicineGenotypeMultiple SclerosimedicineVitamin D and neurologyGenetic predispositionGeneticsHumansVitamin DSicilyMolecular BiologyEcology Evolution Behavior and SystematicsGenetics25-Hydroxyvitamin D3 1-alpha-HydroxylasePolymorphism Genetic25(OH)DMultiple sclerosisVitamin D-Binding ProteinGeneral MedicineEnvironmental exposureMiddle Agedmedicine.diseaseEcology Evolution Behavior and Systematic030104 developmental biologyEndocrinologychemistryFemaleGene polymorphism030217 neurology & neurosurgeryHuman
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CO2 flux emissions from the Earth's most actively degassing volcanoes, 2005-2015

2019

AbstractThe global carbon dioxide (CO2) flux from subaerial volcanoes remains poorly quantified, limiting our understanding of the deep carbon cycle during geologic time and in modern Earth. Past attempts to extrapolate the global volcanic CO2 flux have been biased by observations being available for a relatively small number of accessible volcanoes. Here, we propose that the strong, but yet unmeasured, CO2 emissions from several remote degassing volcanoes worldwide can be predicted using regional/global relationships between the CO2/ST ratio of volcanic gases and whole-rock trace element compositions (e.g., Ba/La). From these globally linked gas/rock compositions, we predict the CO2/ST gas…

0301 basic medicineVolcanologylcsh:MedicineAtmospheric sciencesCarbon cycleVolcanic Gases03 medical and health scienceschemistry.chemical_compound0302 clinical medicine[SDU.STU.VO]Sciences of the Universe [physics]/Earth Sciences/Volcanologyeventlcsh:Scienceevent.disaster_typeCarbon dioxide in Earth's atmospheregeographyMultidisciplinarygeography.geographical_feature_categoryAtmospheric carbon dioxidelcsh:RTrace elementFOS: Earth and related environmental sciencesVolcanologyGeochemistry030104 developmental biologyVolcanochemistry[SDU]Sciences of the Universe [physics]Carbon dioxideSubaerialEnvironmental scienceVolcanoeslcsh:Q030217 neurology & neurosurgeryvolcanic gas fluxes voclanoes
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Identification and Characterization of the Dermal Panniculus Carnosus Muscle Stem Cells

2016

Summary The dermal Panniculus carnosus (PC) muscle is important for wound contraction in lower mammals and represents an interesting model of muscle regeneration due to its high cell turnover. The resident satellite cells (the bona fide muscle stem cells) remain poorly characterized. Here we analyzed PC satellite cells with regard to developmental origin and purported function. Lineage tracing shows that they originate in Myf5+, Pax3/Pax7+ cell populations. Skin and muscle wounding increased PC myofiber turnover, with the satellite cell progeny being involved in muscle regeneration but with no detectable contribution to the wound-bed myofibroblasts. Since hematopoietic stem cells fuse to PC…

0301 basic medicineWOUNDSCellular differentiation[SDV]Life Sciences [q-bio]CellCell Culture TechniquesMuscle DevelopmentMOUSEBiochemistryMicelcsh:QH301-705.5ComputingMilieux_MISCELLANEOUSlcsh:R5-920Gene Expression Regulation DevelopmentalPAX7 Transcription FactorCell Differentiation3. Good healthPanniculus carnosusCell biologyHaematopoiesisPhenotypemedicine.anatomical_structureMOUSE;TISSUE;REPAIR;WOUNDS;MYOGENESIS;EXPRESSION;SKIN;MODEL;SATELLITE CELLS;SKELETAL-MUSCLESKELETAL-MUSCLEMYF5Stem celllcsh:Medicine (General)EXPRESSIONSatellite Cells Skeletal MuscleBone Marrow CellsMice TransgenicBiologyArticleMYOGENESIS03 medical and health sciencesSATELLITE CELLSGeneticsmedicineAnimalsRegenerationCell LineageMuscle SkeletalPAX3 Transcription FactorCell ProliferationREPAIR[ SDV ] Life Sciences [q-bio]Cell growthCell BiologyMODEL030104 developmental biologylcsh:Biology (General)Cell cultureTISSUEImmunologyBiomarkersSKINDevelopmental BiologyStem Cell Reports
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C3 Drives Inflammatory Skin Carcinogenesis Independently of C5

2021

Nonmelanoma skin cancer such as cutaneous squamous cell carcinoma (cSCC) is the most common form of cancer and can occur as a consequence of DNA damage to the epithelium by UVR or chemical carcinogens. There is growing evidence that the complement system is involved in cancer immune surveillance; however, its role in cSCC remains unclear. Here, we show that complement genes are expressed in tissue from patients with cSCC, and C3 activation fragments are present in cSCC biopsies, indicating complement activation. Using a range of complement-deficient mice in a two-stage mouse model of chemically-induced cSCC, where a subclinical dose of 7,12-dimethylbenz[a]anthracene causes oncogenic mutatio…

0301 basic medicineWT wild typeSkin NeoplasmsComplement receptorComplement Membrane Attack Complexmedicine.disease_causeBiochemistrychemistry.chemical_compoundMice0302 clinical medicineCR complement receptorComplement ActivationSkinMice KnockoutcSCC cutaneous squamous cell carcinomaComplement C5Complement C3Receptors Complement030220 oncology & carcinogenesisCarcinoma Squamous CellDisease ProgressionTumor BiologyOriginal ArticleMAC membrane attack complexSignal TransductionHPV16 human papillomavirus type 16910-Dimethyl-12-benzanthraceneTPA 12-O-tetradecanoylphorbol-13-acetateMice TransgenicDermatologySettore MED/08 - Anatomia Patologica03 medical and health sciencesmedicineAnimalsHumansC3Molecular BiologyReceptor Anaphylatoxin C5aDMBA 712-dimethylbenz[a]anthracenebusiness.industry712-Dimethylbenz[a]anthraceneCancerCell BiologyNeoplasms Experimentalmedicine.diseaseComplement systemDisease Models Animal030104 developmental biologychemistryTumor progressionCancer researchCarcinogensTumor EscapeSkin cancerbusinessCarcinogenesisComplement membrane attack complexSkin carcinogenesis.EC epithelial cell
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Waardenburg syndrome type I: dental phenotypes and genetic analysis of an extended family

2016

Background: The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations. Material and Methods: To characterize the pattern of inheritance and clinical features, 29 family members were evaluated by dermatologic, ophthalmologic, otorhinolaryngologic and orofacial examination. Molecular analysis of the PAX3 gene was performed. Results: The pedigree of the family,including the last four generations, was constructed and revealed non-consanguineous marriages. Out of 29 descendants, 16 family members showed features of WS1, with 9 members show…

0301 basic medicineWaardenburg Syndrome Type IPAX3OdontologíaEsthetics DentalGenetic analysis03 medical and health sciencesMedicineHumansWaardenburg SyndromeGeneral DentistryPAX3 Transcription FactorGeneticsDental Enamel HypoplasiaOral Medicine and Pathologybusiness.industryWaardenburg syndromeResearchExtended familymedicine.disease:CIENCIAS MÉDICAS [UNESCO]PhenotypeCiencias de la saludPedigreestomatognathic diseases030104 developmental biologyPhenotypeOtorhinolaryngologyUNESCO::CIENCIAS MÉDICASSurgeryDental Enamel Hypoplasiabusiness
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Development of a method for the direct fermentation of semolina by selected sourdough lactic acid bacteria

2016

Three obligately heterofermentative lactic acid bacteria (LAB) strains (Lactobacillus sanfranciscensis PON100336, Leuconostoc citreum PON10079 and Weissella cibaria PON10030) were used in this study as a multi-species starter culture for sourdough production. The starter inoculum was prepared and propagated in sterile semolina extract (SSE) broth. Acidification kinetics, microbiological counts detected on specific media for sourdough LAB, polymorphic profile comparison and species-specific PCRs evidenced a stability of the liquid inoculum over time determining its suitability for direct addition to semolina. In order to validate this innovative method for the production of durum wheat (Trit…

0301 basic medicineWeissellaFlour030106 microbiologyLactobacillus sanfranciscensisFermentation; Lactic acid bacteria; Quality parameters; Sourdough; Starter culture; Triticum durum genotypes; Volatile organic compounds; Microbiology; Food Science; Safety Risk Reliability and Qualitymedicine.disease_causePolymerase Chain ReactionMicrobiology03 medical and health sciencesStarterLeuconostoc citreumLactobacillusLactic acid bacteriamedicineLeuconostocLactic AcidFood scienceWeissella cibariaSafety Risk Reliability and QualityTriticumbiologyChemistryfood and beveragesBreadSettore AGR/15 - Scienze E Tecnologie AlimentariGeneral MedicineVolatile organic compoundbiology.organism_classificationTriticum durum genotypeSettore AGR/02 - Agronomia E Coltivazioni ErbaceeQuality parameterLactobacillusStarter culture030104 developmental biologyItalyWeissellaSourdoughFermentationFermentationLeuconostocSettore AGR/16 - Microbiologia AgrariaFood ScienceInternational Journal of Food Microbiology
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Effects of muscular dystrophy, exercise and blocking activin receptor IIB ligands on the unfolded protein response and oxidative stress

2016

Protein homeostasis in cells, proteostasis, is maintained through several integrated processes and pathways and its dysregulation may mediate pathology in many diseases including Duchenne muscular dystrophy (DMD). Oxidative stress, heat shock proteins, endoplasmic reticulum (ER) stress and its response, i.e. unfolded protein response (UPR), play key roles in proteostasis but their involvement in the pathology of DMD are largely unknown. Moreover, exercise and activin receptor IIB blocking are two strategies that may be beneficial to DMD muscle, but studies to examine their effects on these proteostasis pathways are lacking. Therefore, these pathways were examined in the muscle of mdx mice, …

0301 basic medicineX-Box Binding Protein 1Activin Receptors Type IIEukaryotic Initiation Factor-2MyostatinUPRBiochemistryMiceeIF-2 KinaseThioredoxinsSirtuin 1ENDOPLASMIC-RETICULUM STRESSDISULFIDE-ISOMERASEPhosphorylationta315Endoplasmic Reticulum Chaperone BiPHeat-Shock ProteinsIN-VIVOta3141Activin receptorMOUSE MODELER STRESSEndoplasmic Reticulum Stress3. Good healthmedicine.anatomical_structuremyostatinPRESERVES MUSCLE FUNCTIONER-stressSKELETAL-MUSCLEmdxSignal TransductionEXPRESSIONmedicine.medical_specialtyXBP1MDX MICEBiologyProtein Serine-Threonine Kinases03 medical and health sciencesPhysiology (medical)Internal medicineHeat shock proteinPhysical Conditioning AnimalEndoribonucleasesmedicineAnimalsHumansRNA MessengerMuscle SkeletalSkeletal muscleMyostatinGENEActivating Transcription Factor 6Immunoglobulin Fc FragmentsMuscular Dystrophy DuchenneDisease Models Animal030104 developmental biologyProteostasisEndocrinologyGene Expression RegulationUnfolded protein responsebiology.proteinMice Inbred mdxProteostasisUnfolded Protein Response3111 BiomedicineCarrier ProteinsACVR2B
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