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showing 10 items of 25122 documents

Cirrhosis risk score of the donor organ predicts early fibrosis progression after liver transplantation.

2019

Background & Aims: Fibrosis progression (FP) after liver transplantation (LT) increases morbidity and mortality. Biomarkers are needed for early prediction of FP. A recipient’s seven-gene cirrhosis risk score (CRS) has been associated with FP, especially in non-transplant cohorts. A broader validation of CRS, including the genotype of the donor-organ and HCV-negative patients is lacking. We therefore analyzed the impact of donor- and recipient-specific genotypes on FP after LT in a large cohort of HCV-positive and -negative patients.Method: Genotyping from liver biopsies (n=201 donors) and peripheral blood (n=442 recipients) was performed. Cirrhosis risk score was correlated with FP at …

0301 basic medicineGenetic MarkersLiver CirrhosisMalemedicine.medical_specialtyCirrhosisTime Factorsmedicine.medical_treatmentLiver transplantationGastroenterologyRisk Assessment03 medical and health sciences0302 clinical medicineFibrosisRisk FactorsInternal medicineGenotypeotorhinolaryngologic diseasesMedicineHumansCumulative incidenceGenetic Predisposition to DiseaseFramingham Risk Scorebusiness.industryHazard ratioGastroenterologyMiddle Agedmedicine.diseaseTissue DonorsLiver Transplantation030104 developmental biologyPhenotypeTreatment OutcomeDisease Progression030211 gastroenterology & hepatologyFemalebusinessRisk assessmentJournal of gastrointestinal and liver diseases : JGLD
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Molecular disturbance underlies to arrhythmogenic cardiomyopathy induced by transgene content, age and exercise in a truncated PKP2 mouse model

2016

13 páginas, 9 tablas, 2 figuras. Contiene material suplementario.

0301 basic medicineGenetically modified mouseAgingmedicine.medical_specialtyTransgeneCardiomyopathyPlakoglobinConnexin030204 cardiovascular system & hematologyBiologyMice03 medical and health sciences0302 clinical medicineFibrosisInternal medicineGeneticsmedicineAnimalsHumansTransgenesMolecular BiologyArrhythmogenic Right Ventricular DysplasiaGenetics (clinical)General Medicinemedicine.diseasePhenotypeDisease Models Animal030104 developmental biologyEndocrinologyMutationDisease ProgressionPhysical EnduranceDesminPlakophilins
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Oral Monosodium Glutamate Administration Causes Early Onset of Alzheimer's Disease-Like Pathophysiology in APP/PS1 Mice.

2019

Glutamate excitotoxicity has long been related to Alzheimer's disease (AD) pathophysiology, and it has been shown to affect the major AD-related hallmarks, amyloid-β peptide (Aβ) accumulation and tau phosphorylation (p-tau). We investigated whether oral administration of monosodium glutamate (MSG) has effects in a murine model of AD, the double transgenic mice APP/PS1. We found that AD pathogenic factors appear earlier in APP/PS1 when supplemented with MSG, while wildtype mice were essentially not affected. Aβ and p-tau levels were increased in the hippocampus in young APP/PS1 animals upon MSG administration. This was correlated with increased Cdk5-p25 levels. Furthermore, in these mice, we…

0301 basic medicineGenetically modified mouseMalemedicine.medical_specialtyMonosodium glutamateExcitotoxicityHippocampusAdministration OralMice TransgenicAMPA receptormedicine.disease_cause03 medical and health scienceschemistry.chemical_compoundAmyloid beta-Protein PrecursorMice0302 clinical medicineOral administrationAlzheimer DiseaseInternal medicinemental disordersSodium GlutamatemedicinePresenilin-1Animalsbusiness.industryGeneral NeuroscienceGlutamate receptorLong-term potentiationGeneral MedicineFlavoring AgentsPsychiatry and Mental healthClinical Psychology030104 developmental biologyEndocrinologychemistryFemaleGeriatrics and Gerontologybusiness030217 neurology & neurosurgeryJournal of Alzheimer's disease : JAD
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Cytoskeletal transgelin 2 contributes to gender-dependent adipose tissue expandability and immune function

2019

During adipogenesis, preadipocytes' cytoskeleton reorganizes in parallel with lipid accumulation. Failure to do so may impact the ability of adipose tissue (AT) to shift between lipid storage and mobilization. Here, we identify cytoskeletal transgelin 2 (TAGLN2) as a protein expressed in AT and associated with obesity and inflammation, being normalized upon weight loss. TAGLN2 was primarily found in the adipose stromovascular cell fraction, but inflammation, TGF-β, and estradiol also prompted increased expression in human adipocytes. Tagln2 knockdown revealed a key functional role, being required for proliferation and differentiation of fat cells, whereas transgenic mice overexpressing Tagl…

0301 basic medicineGenetically modified mouseMalemedicine.medical_specialtyTHP-1 CellsBlotting WesternAdipose tissueMuscle ProteinsInflammationMice TransgenicDiet High-FatBiochemistry03 medical and health sciencesMice0302 clinical medicineImmune systemSex FactorsInternal medicineGeneticsmedicineAdipocytesAnimalsHumansObesityadipocyte protein 2CytoskeletonMolecular BiologyCytoskeletonInflammationbiologyMicrofilament ProteinsPhenotypeImmunohistochemistryMice Inbred C57BL030104 developmental biologyEndocrinologyAdipose TissueAdipogenesisbiology.proteinFemalemedicine.symptom030217 neurology & neurosurgeryBiotechnology
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BNT162b2 Vaccine Encoding the SARS-CoV-2 P2 S Protects Transgenic hACE2 Mice against COVID-19.

2021

BNT162b2 is a highly efficacious mRNA vaccine approved to prevent COVID-19. This brief report describes the immunogenicity and anti-viral protective effect of BNT162b2 in hACE2 transgenic mice. Prime-boost immunization with BNT162b2 elicited high titers in neutralizing antibodies against SARS-CoV-2, which correlated with viral clearance and alleviated lung lesions in these mice after viral challenge.

0301 basic medicineGenetically modified mouseSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2)TransgenevirusesImmunologyefficacylcsh:Medicineimmunogenicitychallenge study03 medical and health sciences0302 clinical medicineDrug DiscoveryMedicinePharmacology (medical)030212 general & internal medicinePharmacologyMessenger RNAbiologybusiness.industrySARS-CoV-2Brief ReportImmunogenicitylcsh:RCOVID-19VirologyTiter030104 developmental biologyInfectious DiseasesmRNA vaccineImmunizationbiology.proteinAntibodybusinessVaccines
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Data on the effects of low iron diet on serum lipid profile in HCV transgenic mouse model

2017

Here, we presented new original data on the effects of iron depletion on the circulating lipid profile in B6HCV mice, a murine model of HCV-related dyslipidemia. Male adult B6HCV mice were subjected to non-invasive iron depletion by low iron diet. Serum iron concentration was assessed for evaluating the effects of the dietary iron depletion. Concentrations of circulating triglycerides, total cholesterol, Low Density Lipoproteins (LDLs), High Density Lipoproteins (HDLs) were analyzed and reported by using stacked line charts. The present data indicated that low serum iron concentration is associated to i) lower serum triglycerides concentrations and ii) increased circulating LDLs. The presen…

0301 basic medicineGenetically modified mousemedicine.medical_specialtyLow density lipoproteins3304High densityLow density lipoproteinlcsh:Computer applications to medicine. Medical informaticsTriglyceride03 medical and health sciences0302 clinical medicineInternal medicinemedicineIron depletion; Low density lipoproteins; Triglycerides; 3304; MultidisciplinarySerum triglycerideslcsh:Science (General)TriglyceridesData ArticleDietary ironMultidisciplinarymedicine.diagnostic_testChemistrymedicine.diseaseIron depletion030104 developmental biologyEndocrinologyBiochemistrySerum ironlcsh:R858-859.7030211 gastroenterology & hepatologylipids (amino acids peptides and proteins)Lipid profileDyslipidemiaIron depletionlcsh:Q1-390Data in Brief
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Response to: 'Artery tertiary lymphoid organs in giant cell arteritis are not exclusively located in the media of temporal arteries' by Graver et al

2017

We thank Graver  et al 1 for their interest in our recently published article on artery tertiary lymphoid organs (ATLOs) in giant cell arteritis (GCA).2 The authors stained temporal artery biopsies of 21 biopsy-proven GCA patients (71% female, mean duration of disease of 2.3±0.9 months) that fulfilled the 1990 American College of Rheumatology classification criteria with anti-CD20 and anti-CD3 antibodies. On the basis of this experimental approach, they confirmed the presence of ATLOs only in the adventitia of inflamed arteries of GCA patients and not in the media as demonstrated in our study. This statement, however, is not supported in our opinion by the experimental approach chosen …

0301 basic medicineGenetics and Molecular Biology (all)medicine.medical_specialtyPathologyBiopsyGiant Cell ArteritisImmunologyDisease Activity; Giant Cell Arteritis; TreatmentBiochemistryGeneral Biochemistry Genetics and Molecular BiologyDisease activity03 medical and health sciences0302 clinical medicineRheumatologyInternal medicineAdventitiamedicineHumansImmunology and AllergyDisease ActivityGiant Cell Arteriti030203 arthritis & rheumatologyBiochemistry Genetics and Molecular Biology (all)business.industryArteriesmedicine.diseaseRheumatologyTemporal ArteriesTreatmentGiant cell arteritis030104 developmental biologymedicine.anatomical_structureLymphatic systemcardiovascular systemTemporal arterybusinessArtery
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2017

Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We investigated—for the first time to our knowledge—associations of common genetic variants with breast and prostate cancer risks for male carriers of BRCA1/ 2 mutations and implications for cancer risk prediction. Materials and Methods We genotyped 1,802 male carriers of BRCA1/2 mutations from the Consortium of Investigators of Modifiers of BRCA1/2 by using the custom Illumina OncoArray. We investigated the combined effects of established breast and prostate cancer susceptibility variants on cancer risks for male carriers of…

0301 basic medicineGeneticsOncologyCancer Researchmedicine.medical_specialtymedicine.diagnostic_testbusiness.industryCase-control studyGenome-wide association studyOdds ratiomedicine.disease3. Good health03 medical and health sciencesProstate cancer030104 developmental biology0302 clinical medicineBreast cancerOncology030220 oncology & carcinogenesisInternal medicinemedicineOverdiagnosisbusinessRisk assessmentGenetic testingJournal of Clinical Oncology
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Exome-Wide Association Study on Alanine Aminotransferase Identifies Sequence Variants in the GPAM and APOE Associated With Fatty Liver Disease.

2021

BACKGROUND & AIMS: Fatty liver disease (FLD) is a growing epidemic that is expected to be the leading cause of end-stage liver disease within the next decade. Both environmental and genetic factors contribute to the susceptibility of FLD. Several genetic variants contributing to FLD have been identified in exome-wide association studies. However, there is still a missing hereditability indicating that other genetic variants are yet to be discovered. METHODS: To find genes involved in FLD, we first examined the association of missense and nonsense variants with alanine amino transferase at an exome-wide level in 425,671 participants from the UK Biobank. We then validated genetic variants wit…

0301 basic medicineGenome-wide association studyLiver disease0302 clinical medicineENRICHMENT ANALYSISNon-alcoholic Fatty Liver DiseaseRisk FactorsNonalcoholic fatty liver diseaseExomeCONFERS SUSCEPTIBILITYGeneticsINSULIN-RESISTANCEmedicine.diagnostic_testFatty liverGastroenterologyAlanine Transaminase1-Acylglycerol-3-Phosphate O-Acyltransferase3. Good healthGENOMEEuropePhenotypeLiver biopsy030211 gastroenterology & hepatologyNonalcoholic Fatty Liver DiseaseMAFLDSingle-nucleotide polymorphismBiologyTransaminaseRisk Assessment03 medical and health sciencesApolipoproteins ENAFLDmedicineGenetic predispositionHumansGenetic Predisposition to DiseaseHEPATIC STEATOSISGenetic associationMAFLD Phenotype Reproducibility of Results Risk Assessment Risk Factors Transcriptome Genetic Variation Metabolic Associated Fatty Liver Disease Nonalcoholic Fatty Liver Disease Transaminase 1-Acylglycerol-3-Phosphate O-Acyltransferase Alanine Transaminase Apolipoproteins E Biomarkers Europe Exome Gene Expression Profiling Genetic Predisposition to Disease Genome-Wide Association Study Humans Non-alcoholic Fatty Liver DiseaseHepatologyMUTATIONSGene Expression ProfilingGenetic VariationReproducibility of Resultsmedicine.diseaseX-RECEPTORGENE030104 developmental biology3121 General medicine internal medicine and other clinical medicineMetabolic Associated Fatty Liver DiseaseRNA-SEQ DATATranscriptomePATHOGENICITYBiomarkersGenome-Wide Association StudyGastroenterology
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Measles in Italy: Viral strains and crossing borders

2019

In 2017, Italy experienced one of the largest outbreaks of measles in recent years, with 5404 notified cases and 4347 confirmed cases. A further 2029 cases were notified during the first 6 months of 2018, and 1516 of them were laboratory-confirmed. The B3 and D8 genotypes were identified as those responsible for the outbreak. Possible transmission routes can be established by monitoring the circulating measles virus strains in support of the national health authorities to warn people and travellers. Keywords: Outbreak, Measles, Genotype identification, Surveillance

0301 basic medicineGenotyping TechniquesWHO/EuropeSettore MED/42 - Igiene Generale E ApplicataDisease OutbreaksWHO0302 clinical medicineMeasleGenotype030212 general & internal medicineTravelSurveillancebiologyTransmission (medicine)General MedicineEmigration and ImmigrationInfectious DiseasesGenotype identificationItalyWorld Health Organization European RegionSequence AnalysisMicrobiology (medical)medicine.medical_specialtyGenotype030106 microbiologyWorld Health OrganizationMeasleslcsh:Infectious and parasitic diseasesEuropean Regional Verification Commission for Measles and Rubella Elimination; Genotype identification; MeaNS; Measles; Measles Nucleotide Surveillance; Outbreak; RVC; Surveillance; WHO; WHO/Europe; World Health Organization; World Health Organization European RegionOutbreak Measles Genotype identification SurveillanceMeasles virus03 medical and health sciencesGenotype identification; Measles; Outbreak; Surveillance; Emigration and Immigration; Genotype; Genotyping Techniques; Humans; Italy; Measles; Measles virus; Sequence Analysis DNA; Travel; Disease OutbreaksmedicineHumanslcsh:RC109-216Genotyping TechniquesMeaNSNational healthEuropean Regional Verification Commission for Measles and Rubella EliminationPublic healthOutbreakOutbreakSequence Analysis DNADNAmedicine.diseasebiology.organism_classificationVirologyRVCMeasles virusMeasles Nucleotide SurveillanceMeasles
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