Search results for "R1"

showing 10 items of 1016 documents

Neuroactive Steroids Reverse Tonic Inhibitory Deficits in Fragile X Syndrome Mouse Model

2018

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. A reduction in neuronal inhibition mediated by γ-aminobutyric acid type A receptors (GABAARs) has been implicated in the pathophysiology of FXS. Neuroactive steroids (NASs) are known allosteric modulators of GABAAR channel function, but recent studies from our laboratory have revealed that NASs also exert persistent metabotropic effects on the efficacy of tonic inhibition by increasing the protein kinase C (PKC)-mediated phosphorylation of the α4 and β3 subunits which increase the membrane expression and boosts tonic inhibition. We have assessed the GABAergic signaling in the hippocampus of fragile X ment…

0301 basic medicinecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyNeuroactive steroidGABAA receptor (GABAAR)fragile XInhibitory postsynaptic potentialTonic (physiology)lcsh:RC321-571tonic inhibition03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineInternal medicinemedicineMolecular Biologylcsh:Neurosciences. Biological psychiatry. NeuropsychiatryProtein kinase COriginal ResearchChemistryphosphorylationDentate gyrusFMR1030104 developmental biologyEndocrinologyMetabotropic receptorGABAergicneurosteroidbenzodiazepine030217 neurology & neurosurgeryNeuroscienceFrontiers in Molecular Neuroscience
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Polymorphisms within the ARNT2 and CX3CR1 Genes Are Associated with the Risk of Developing Invasive Aspergillosis.

2020

Invasive aspergillosis (IA) is a life-threatening infection that affects an increasing number of patients undergoing chemotherapy or allo-transplantation, and recent studies have shown that genetic factors contribute to disease susceptibility. In this two-stage, population-based, case-control study, we evaluated whether 7 potentially functional single nucleotide polymorphisms (SNPs) within the ARNT2 and CX3CR1 genes influence the risk of IA in high-risk hematological patients. We genotyped selected SNPs in a cohort of 500 hematological patients (103 of those had been diagnosed with proven or probable IA), and we evaluated their association with the risk of developing IA. The association of …

0301 basic medicinehost immunityGenotype030106 microbiologyImmunologyPopulationCX3C Chemokine Receptor 1Single-nucleotide polymorphismARNT2 ; CX3CR1 ; genetic susceptibility; host immunity; invasive aspergillosisBiologyAspergillosisMicrobiologyPolymorphism Single NucleotideRisk Assessment03 medical and health sciencesCX3CR1GenotypemedicineGenetic predispositionBasic Helix-Loop-Helix Transcription FactorsHumansGenetic Predisposition to DiseaseARNT2AlleleeducationInvasive Pulmonary Aspergillosiseducation.field_of_studyinvasive aspergillosisHaplotypeAryl Hydrocarbon Receptor Nuclear TranslocatorPCRAGA Study Groupmedicine.diseaseHematologic Diseases3. Good healthSettore MED/15 - MALATTIE DEL SANGUE030104 developmental biologyInfectious DiseasesAspergillusCase-Control StudiesExpression quantitative trait lociImmunologyParasitologygenetic susceptibility
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Humanization of the Blood-Brain Barrier Transporter ABCB1 in Mice Disrupts Genomic Locus - Lessons from Three Unsuccessful Approaches

2018

ATP-binding cassette (ABC) transporters are of major importance for the restricted access of toxins and drugs to the human body. At the body's barrier tissues like the blood-brain barrier, these transporters are highly represented. Especially, ABCB1 (P-glycoprotein) has been a priority target of pharmaceutical research, for instance, to aid chemotherapy of cancers, therapy resistant epilepsy, and lately even neurodegenerative diseases. To improve translational research, the humanization of mouse genes has become a popular tool although, like recently seen for Abcb1, not all approaches were successful. Here, we report the characterization of another unsuccessful commercially available ABCB1 …

0301 basic medicinehumanizationPET imaginglcsh:QR1-502Locus (genetics)ATP-binding cassette transporterComputational biologyBiologyBlood–brain barrierlcsh:Microbiology03 medical and health sciencesExon0302 clinical medicinemedicineCoding regionmouse modelsGenePromoterABCB1: ABCB13. Good healthOriginal Research Paper030104 developmental biologymedicine.anatomical_structureHumanized mouseP-gpABC transporter030217 neurology & neurosurgeryEuropean journal of microbiology and immunology
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Taste receptors, innate immunity and longevity: the case of TAS2R16 gene

2019

Abstract Background Innate immunity utilizes components of sensory signal transduction such as bitter and sweet taste receptors. In fact, empirical evidence has shown bitter and sweet taste receptors to be an integral component of antimicrobial immune response in upper respiratory tract infections. Since an efficient immune response plays a key role in the attainment of longevity, it is not surprising that the rs978739 polymorphism of the bitter taste receptor TAS2R16 gene has been shown to be associated with longevity in a population of 941 individuals ranging in age from 20 to 106 years from Calabria (Italy). There are many possible candidate genes for human longevity, however of the many…

0301 basic medicinelcsh:Immunologic diseases. AllergyCandidate geneAgingmedia_common.quotation_subjectPopulationImmunologyLongevityShort ReportCase control studyGenome-wide association studyBiologylcsh:Geriatrics03 medical and health sciences0302 clinical medicineImmune systemstomatognathic systemTaste receptorGWASReceptoreducationBitter taste receptormedia_commonSettore MED/04 - Patologia GeneraleGeneticsInnate immunityeducation.field_of_studyInnate immune systemLongevitylcsh:RC952-954.6030104 developmental biologyBitter taste receptors; Case control study; GWAS; Innate immunity; Longevity; TAS2R16 gene; Immunology; AgingTAS2R16 geneBitter taste receptorslcsh:RC581-607030215 immunologyImmunity & Ageing : I & A
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Auswirkungen eines neuen Wassersystems auf nosokomiale Kolonisierung oder Infektion mit Pseudomonas aeruginosa

2016

Aim: We aimed to study the impact of new water systems, which were less contaminated with P. aeruginosa, on the incidence of healthcare-associated P. aeruginosa cases (colonizations or infections) in care units that moved to a different building between 2005 and 2014. Methods: Generalized Estimated Equations were used to compare the incidence of P. aeruginosa healthcare-associated cases according to the building. Results: Twenty-nine units moved during the study period and 2,759 cases occurred in these units. No difference was observed when the new building was compared with older buildings overall. Conclusion: Our results did not support our hypothesis of a positive association between wat…

0301 basic medicinelcsh:Public aspects of medicineTrinkwassersystem030106 microbiologylcsh:Rlcsh:QR1-502lcsh:Medicinelcsh:RA1-1270030501 epidemiology610 Medical sciences; Medicineinfection controllcsh:MicrobiologyArticlenosokomiale Infektionen3. Good healthInfektionskontrolle03 medical and health sciences[ SDV.MHEP.MI ] Life Sciences [q-bio]/Human health and pathology/Infectious diseaseswater systemshealthcare-associated infectionsddc: 610[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseasesNosocomial infectionsPseudomonas aeruginosa0305 other medical scienceGMS Hygiene and Infection Control
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MARTX Toxin in the Zoonotic Serovar of Vibrio vulnificus Triggers an Early Cytokine Storm in Mice

2017

Vibrio vulnificus biotype 2-serovar E is a zoonotic clonal complex that can cause death by sepsis in humans and fish. Unlike other biotypes, Bt2 produces a unique type of MARTXVv (Multifunctional-Autoprocessive-Repeats-in-Toxin; RtxA13), which is encoded by a gene duplicated in the pVvBt2 plasmid and chromosome II. In this work, we analyzed the activity of this toxin and its role in human sepsis by performing in vitro, ex vivo, and in vivo assays. First, we demonstrated that the ACD domain, present exclusively in this toxin variant, effectively has an actin-cross-linking activity. Second, we determined that the whole toxin caused death of human endotheliocytes and monocytes by lysis and apo…

0301 basic medicinelcsh:QR1-502MicrobiologiaVibrio vulnificusmedicine.disease_causeMonocyteslcsh:MicrobiologysepsisVibrio vulnificusCells CulturedOriginal ResearchMice Inbred BALB CCell DeathVirulencebiologyqPCR arrayInfectious DiseasesHost-Pathogen InteractionsBacteris patògensCytokinesV. vulnificusFemaleMicrobiology (medical)Virulence FactorsBacterial ToxinsImmunologyVirulenceSerogroupMicrobiologyMicrobiology03 medical and health sciencesImmune systemMARTXIn vivomedicineAnimalsHumansVibrioToxinEndothelial Cellsbiology.organism_classificationmedicine.diseaseVirologyVibrioinfectionDisease Models Animal030104 developmental biologyInfecciógene expressionCytokine stormEx vivoFrontiers in Cellular and Infection Microbiology
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The Monoclonal Antitoxin Antibodies (Actoxumab–Bezlotoxumab) Treatment Facilitates Normalization of the Gut Microbiota of Mice with Clostridium diffi…

2016

Antibiotics have significant and long-lasting impacts on the intestinal microbiota and consequently reduce colonization resistance against Clostridium difficile infection (CDI). Standard therapy using antibiotics is associated with a high rate of disease recurrence, highlighting the need for novel treatment strategies that target toxins, the major virulence factors, rather than the organism itself. Human monoclonal antibodies MK-3415A (actoxumab–bezlotoxumab) to C. difficile toxin A and toxin B, as an emerging non-antibiotic approach, significantly reduced the recurrence of CDI in animal models and human clinical trials. Although the main mechanism of protection is through direct neutraliza…

0301 basic medicinelcsh:QR1-502gut microbiomeGut floralcsh:MicrobiologyantibioticsMiceLactobacillusLongitudinal StudiesOriginal Researchbiologyactoxumab and bezlotoxumabMK-3415AAntibodies MonoclonalClostridium difficile3. Good healthAnti-Bacterial AgentsInfectious DiseasesTreatment Outcome16S rDNA amplicon sequencingVancomycinmedicine.drugMicrobiology (medical)030106 microbiologyImmunologyClostridium difficile toxin AColonisation resistanceC. difficile toxin antibodyMicrobiologyMicrobiology03 medical and health sciencesVancomycinClostridium difficile infectionimmune therapymedicineAnimalsClostridioides difficileAkkermansiabiology.organism_classificationAntibodies NeutralizingSurvival AnalysisGastrointestinal MicrobiomeDisease Models Animal030104 developmental biologyBayesian networksBezlotoxumabImmunologyClostridium InfectionsAntitoxinsBroadly Neutralizing AntibodiesFrontiers in Cellular and Infection Microbiology
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Liraglutide Increases Serum Levels of MicroRNA-27b, -130a and -210 in Patients with Type 2 Diabetes Mellitus: A Novel Epigenetic Effect

2020

Liraglutide has shown favourable effects on several cardiometabolic risk factors, beyond glucose control. MicroRNAs (miRNAs) regulate gene expression, resulting in post-transcriptional modifications of cell response and function. Specific miRNAs, including miRNA-27b, miRNA-130a, and miRNA-210, play a role in cardiometabolic disease. We aimed to determine the effect of liraglutide on the serum levels of miRNA-27b, miRNA-130a and miRNA-210. Twenty-five subjects with type-2 diabetes mellitus (T2DM), na&iuml

0301 basic medicinemedicine.medical_specialtyEndocrinology Diabetes and Metabolismlcsh:QR1-502IncretinType 2 diabetestype-2 diabetes030204 cardiovascular system & hematologyBiochemistryArticlelcsh:Microbiologyliraglutide; microRNAs; type-2 diabetes; cardiometabolic risk; epigenetic03 medical and health sciences0302 clinical medicineInterquartile rangeDiabetes mellitusInternal medicinecardiometabolic riskMedicineMolecular Biologyliraglutidebusiness.industryLiraglutideType 2 Diabetes MellitusMicroRNAmedicine.diseaseMetforminmicroRNAs030104 developmental biologyEndocrinologybusinessHomeostasisepigeneticmedicine.drugMetabolites
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A Stage-Based Approach to Therapy in Parkinson’s Disease

2019

Parkinson’s disease (PD) is a neurodegenerative disorder that features progressive, disabling motor symptoms, such as bradykinesia, rigidity, and resting tremor. Nevertheless, some non-motor symptoms, including depression, REM sleep behavior disorder, and olfactive impairment, are even earlier features of PD. At later stages, apathy, impulse control disorder, neuropsychiatric disturbances, and cognitive impairment can present, and they often become a heavy burden for both patients and caregivers. Indeed, PD increasingly compromises activities of daily life, even though a high variability in clinical presentation can be observed among people affected. Nowadays, symptomatic drugs and non-phar…

0301 basic medicinemedicine.medical_specialtyParkinson's diseaseImpulse control disorderlcsh:QR1-502ReviewDiseasel-dopaBiochemistryREM sleep behavior disorderMotor symptomslcsh:MicrobiologyAntiparkinson Agentsnon-pharmacological therapy03 medical and health sciences0302 clinical medicinePhysical medicine and rehabilitationmedicineHumansdopamine-agonistsApathyanticholinergicsResting tremorMolecular Biologyamantadinebusiness.industryAmantadineParkinson Diseasemonoamine oxidase inhibitorsmotor symptomsmedicine.diseasenon-motor symptoms030104 developmental biologyacetylcholinesterase inhibitorsParkinson’s disease<span style="font-variant: small-caps">l</span>-dopaSettore MED/26 - Neurologiamedicine.symptombusiness030217 neurology & neurosurgerymedicine.drugBiomolecules
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NUPR1 protects liver from lipotoxic injury by improving the endoplasmic reticulum stress response

2021

AbstractBackground and AimsNon-alcoholic fatty liver disease and related hepatic syndromes affect up to one third of the adult population. The molecular mechanisms underlying NAFL etiology remain elusive. Nuclear Protein 1 (NUPR1) expression increases upon cell injury in all organs and recently we report its active participation in the activation of the Unfolded Protein Response (UPR). The UPR typically maintains protein homeostasis, but downstream mediators of the pathway regulate metabolic functions, including lipid metabolism. NUPR1 and UPR increase have been reported in obesity and liver pathologies and the goal of this study was to investigate the roles of NUPR1 in this context.Methods…

0301 basic medicinemedicine.medical_specialtySettore MED/09 - Medicina InternaPPAR-a signalling UPRPeroxisome proliferator-activated receptorContext (language use)UPRDiet High-FatBiochemistry03 medical and health sciencesLiver diseaseMice0302 clinical medicineInternal medicineCell Line TumorGeneticsmedicineBasic Helix-Loop-Helix Transcription FactorsAnimalsHomeostasisHumansMolecular Biologychemistry.chemical_classificationbusiness.industryEndoplasmic reticulumFatty liverNASHLipid metabolismlipotoxicitymedicine.diseaseEndoplasmic Reticulum StressLipid MetabolismNeoplasm Proteins030104 developmental biologyEndocrinologychemistryLipotoxicityLiverNAFLKnockout mouseUnfolded protein responseUnfolded Protein ResponsePPAR-a signallingSteatosisSteatohepatitisbusiness030217 neurology & neurosurgeryNUPR1Biotechnology
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