Search results for "CAA"

showing 10 items of 71 documents

β-amyloid wall deposit of temporal artery in subjects with spontaneous intracerebral haemorrhage.

2018

// Antonino Tuttolomondo 1 , Rosario Maugeri 4 , Elisabetta Orlando 2 , Giulio Giannone 2 , Francesco Ciccia 3 , Aroldo Rizzo 5 , Domenico Di Raimondo 1 , Francesca Graziano 4 , Rosaria Pecoraro 1 , Carlo Maida 1 , Irene Simonetta 1 , Anna Cirrincione 1 , Francesca Portelli 2 , Francesca Corpora 1 , Domenico Gerardo Iacopino 4 and Antonio Pinto 1 1 Internal Medicine and Stroke Care Ward, Dipartimento Biomedico di Medicina Interna e Specialistica, University of Palermo, Palermo, Italy 2 Human Pathology Section, Human Pathology Section, Department of Health Sciences, University of Palermo, Palermo, Italy 3 Rheumathology Ward, Dipartimento Biomedico di Medicina Interna e Specialistica, Univers…

0301 basic medicineApolipoprotein Emedicine.medical_specialtySettore MED/09 - Medicina InternaGastroenterologysuperficial temporal artery03 medical and health sciences0302 clinical medicineβ amyloidInternal medicinemedicine.arteryBiopsymedicineβ-amyloid temporal arterymedicine.diagnostic_testbusiness.industrySettore MED/27 - Neurochirurgiaβ-amyloidintracerebral haemorrhageUniversity hospitalControl subjectsmedicine.diseaseSuperficial temporal artery030104 developmental biologyOncologyTemporal arteryCerebral amyloid angiopathybusiness030217 neurology & neurosurgeryResearch PaperCAAH
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Decreased consumption of branched-chain amino acids improves metabolic health

2016

Protein-restricted (PR), high-carbohydrate diets improve metabolic health in rodents, yet the precise dietary components that are responsible for these effects have not been identified. Furthermore, the applicability of these studies to humans is unclear. Here, we demonstrate in a randomized controlled trial that a moderate PR diet also improves markers of metabolic health in humans. Intriguingly, we find that feeding mice a diet specifically reduced in branched-chain amino acids (BCAAs) is sufficient to improve glucose tolerance and body composition equivalently to a PR diet via metabolically distinct pathways. Our results highlight a critical role for dietary quality at the level of amino…

0301 basic medicineBlood GlucoseMalemedicine.medical_specialtyAdipose Tissue WhiteAdipose tissueBiologybranched-chain amino acids (BCAAs)General Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciences0302 clinical medicineStress PhysiologicalInternal medicineInsulin-Secreting CellsGlucose IntolerancemedicineAnimalsHumansbiochemistryObesitylcsh:QH301-705.5Metabolic health2. Zero hungerchemistry.chemical_classificationgenetics and molecular biology (all)GluconeogenesisOrgan SizeMiddle Agedmedicine.diseaseObesityAmino acidFibroblast Growth FactorsMice Inbred C57BLProtein-restricted (PR)030104 developmental biologyEndocrinologyPharmacological interventionslcsh:Biology (General)BiochemistrychemistryGluconeogenesisDiet qualitybiochemistry; genetics and molecular biology (all)Dietary Proteins030217 neurology & neurosurgeryAmino Acids Branched-Chain
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Transcriptome-Wide Analysis Identifies Novel Associations With Blood Pressure.

2017

Hypertension represents a major cardiovascular risk factor. The pathophysiology of increased blood pressure (BP) is not yet completely understood. Transcriptome profiling offers possibilities to uncover genetics effects on BP. Based on 2 populations including 2549 individuals, a meta-analyses of monocytic transcriptome-wide profiles were performed to identify transcripts associated with BP. Replication was performed in 2 independent studies of whole-blood transcriptome data including 1990 individuals. For identified candidate genes, a direct link between long-term changes in BP and gene expression over time and by treatment with BP-lowering therapy was assessed. The predictive value of pro…

0301 basic medicineMaleCandidate geneGene ExpressionGenome-wide association studyBlood Pressure030204 cardiovascular system & hematologyCardiorespiratory Medicine and HaematologyCardiovascularLMNATranscriptome0302 clinical medicineRisk FactorsCEBPAGene expression2.1 Biological and endogenous factorsAetiologyGeneticsMyelin and Lymphocyte-Associated Proteolipid ProteinsBlood Pressure ; Gene Expression ; Genome-wide Association Study ; Hypertension ; Transcriptomeblood pressureGenomicsSingle NucleotideLIM Domain Proteinsblood pressure; gene expression; genome-wide association study; hypertension; transcriptomeStrokeHeart DiseaseHypertensionPublic Health and Health ServicesBiomarker (medicine)FemaleEssential HypertensionPoly(ADP-ribose) PolymerasesBiotechnologyAdulthypertensionClinical SciencesNucleoside Transport ProteinsBiologyPolymorphism Single NucleotideArticle03 medical and health sciencesClinical ResearchInternal MedicineGeneticsHumansPolymorphismgenome-wide association studyGene Expression ProfilingHuman GenomeBlood Pressure DeterminationGene expression profiling030104 developmental biologyGood Health and Well BeingCardiovascular System & Hematologygene expressionCCAAT-Enhancer-Binding ProteinsCarrier ProteinstranscriptomeTranscription Factors
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Brief Report: Functional Interaction of Endoplasmic Reticulum Aminopeptidase 2 and HLA-B27 Activates the Unfolded Protein Response.

2017

Objective: The basic mechanisms underlying the pathogenesis of ankylosing spondylitis (AS) remain unresolved. We previously reported an association of the single-nucleotide polymorphism (SNP) rs2549782 in the endoplasmic reticulum aminopeptidase 2 gene (ERAP2) with AS. It is known that patients homozygous for the G allele (GG) of another ERAP2 SNP, rs2248374, lack expression of ERAP2 (ERAP2 null). The present study utilized this information to study the impact of ERAP2 deficiency on HLA–B27 expression in patients with AS, specifically focusing on the functional interaction of ERAP2 and HLA–B27 in peripheral blood mononuclear cells (PBMCs) from patients with AS and assessing the effects …

0301 basic medicineMaleX-Box Binding Protein 1Aminopeptidases0302 clinical medicineImmunology and AllergyRNA Small InterferingEndoplasmic Reticulum Chaperone BiPHLA-B27 AntigenHeat-Shock ProteinsAlleleBlottingReverse Transcriptase Polymerase Chain ReactionHeat-Shock ProteinSingle NucleotideMiddle AgedFlow CytometryCCAAT-Enhancer-Binding Protein3. Good healthUp-RegulationFemaleWesternHumanAnkylosingAdultAminopeptidaseMononuclearImmunologyBlotting WesternSingle-nucleotide polymorphismBiologyMajor histocompatibility complexSmall InterferingPolymorphism Single NucleotideAdult; Alleles; Aminopeptidases; Blotting Western; CCAAT-Enhancer-Binding Proteins; Cell Line; Female; Flow Cytometry; HLA-B27 Antigen; Heat-Shock Proteins; Humans; Leukocytes Mononuclear; Male; Middle Aged; Polymorphism Single Nucleotide; RNA Small Interfering; Reverse Transcriptase Polymerase Chain Reaction; Spondylitis Ankylosing; Unfolded Protein Response; Up-Regulation; X-Box Binding Protein 1; Immunology and Allergy; Rheumatology; ImmunologyCell Line03 medical and health sciencesDownregulation and upregulationRheumatologyHumansSpondylitis AnkylosingAllelePolymorphismAlleles030203 arthritis & rheumatologySpondylitiHLA-B27LeukocyteEndoplasmic reticulum aminopeptidase 2X-Box Binding Protein 1Molecular biologySettore MED/16 - Reumatologia030104 developmental biologyUnfolded protein responsebiology.proteinCCAAT-Enhancer-Binding ProteinsLeukocytes MononuclearUnfolded Protein ResponseRNAArthritisrheumatology (Hoboken, N.J.)
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Regulation of GC box activity by 8-oxoguanine

2021

The oxidation-induced DNA modification 8-oxo-7,8-dihydro-2′-deoxyguanosine (8-oxodG) was recently implicated in the activation and repression of gene transcription. We aimed at a systematic characterisation of the impacts of 8-oxodG on the activity of a GC box placed upstream from the RNA polymerase II core promoter. With the help of reporters carrying single synthetic 8-oxodG residues at four conserved G:C base pairs (underlined) within the 5′-TGGGCGGAGC-3′ GC box sequence, we identified two modes of interference of 8-oxodG with the promoter activity. Firstly, 8-oxodG in the purine-rich (but not in the pyrimidine-rich) strand caused direct impairment of transcriptional activation. In addit…

0301 basic medicineMedicine (General)GuanineDNA RepairQH301-705.5Clinical BiochemistryCAAT box8-OxoguanineRNA polymerase IIBiochemistryDNA GlycosylasesAP endonuclease03 medical and health sciencesR5-9200302 clinical medicineGene expressionDNA-(Apurinic or Apyrimidinic Site) LyaseAP siteBiology (General)AP lesionbiologyChemistryOrganic ChemistryPromoterBase excision repairMolecular biologyGC boxBase excision repair (BER)030104 developmental biologyDNA glycosylasebiology.protein8-Oxoguanine DNA Glycosylase (OGG1)030217 neurology & neurosurgeryResearch PaperDNA DamageRedox Biology
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Impaired DNA demethylation of C/EBP sites causes premature aging

2018

Changes in DNA methylation are among the best-documented epigenetic alterations accompanying organismal aging. However, whether and how altered DNA methylation is causally involved in aging have remained elusive. GADD45α (growth arrest and DNA damage protein 45A) and ING1 (inhibitor of growth family member 1) are adapter proteins for site-specific demethylation by TET (ten-eleven translocation) methylcytosine dioxygenases. Here we show that Gadd45a/Ing1 double-knockout mice display segmental progeria and phenocopy impaired energy homeostasis and lipodystrophy characteristic of Cebp (CCAAT/enhancer-binding protein) mutants. Correspondingly, GADD45α occupies C/EBPβ/δ-dependent superenhancers …

0301 basic medicinePremature agingAgingLipodystrophyDNA damageCell Cycle ProteinsBiology03 medical and health sciencesMiceGeneticsAnimalsHomeostasisEpigeneticsCells CulturedDemethylationMice KnockoutNuclear ProteinsAging PrematureMethylationCell biologyChromatinDNA Demethylation030104 developmental biologyDNA demethylationDNA methylationCCAAT-Enhancer-Binding ProteinsInhibitor of Growth Protein 1Developmental BiologyResearch Paper
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Chronically elevated branched chain amino acid levels are pro-arrhythmic.

2022

Aim. Cardiac arrhythmias comprise a major health and economic burden and are associated with significant morbidity and mortality, including cardiac failure, stroke and sudden cardiac death (SCD). Development of efficient preventive and therapeutic strategies is hampered by incomplete knowledge of disease mechanisms and pathways. Our aim is to identify novel mechanisms underlying cardiac arrhythmia and SCD using an unbiased approach. Methods and Results. We employed a phenotype-driven N-ethyl-N-nitrosourea (ENU) mutagenesis screen and identified a mouse line with a high incidence of sudden death at young age (6-9 weeks) in the absence of prior symptoms. Affected mice were found to be homozyg…

0301 basic medicinemedicine.medical_specialtyPhysiologyBranched-chain amino acid030204 cardiovascular system & hematologySudden deathSudden cardiac deathAfterdepolarization03 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicinePhysiology (medical)Internal medicineCardiac conductionmedicineAnimalsHumansMyocytes CardiacBCAAArrhythmia ; Bcaa ; Electrophysiology ; Metabolism ; Sudden DeathHeart FailureSirolimusbusiness.industrySudden deathCardiac arrhythmiamedicine.diseaseElectrophysiology030104 developmental biologyEndocrinologyMetabolismchemistryHeart failureCalciumMetabolic syndromeCardiology and Cardiovascular MedicinebusinessArrhythmiaAmino Acids Branched-ChainCardiovascular research
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Clinical impact of GATA2 mutations in acute myeloid leukemia patients harboring CEBPA mutations: a study of the AML study group.

2016

Clinical impact of GATA2 mutations in acute myeloid leukemia patients harboring CEBPA mutations: a study of the AML study group

AdultMaleCancer Researchmedicine.medical_specialtyMyeloidAdolescentmedicine.disease_causeCohort Studies03 medical and health sciencesYoung Adult0302 clinical medicinehemic and lymphatic diseasesInternal medicineCEBPAmedicineHumansneoplasmsAgedMutationHematologybusiness.industryMyeloid leukemiaHematologyMiddle Agedmedicine.diseaseLymphomaGATA2 Transcription FactorHaematopoiesisLeukemiaLeukemia Myeloid Acutemedicine.anatomical_structureOncology030220 oncology & carcinogenesisMutationCancer researchCCAAT-Enhancer-Binding ProteinsFemalebusiness030215 immunologyLeukemia
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German validation of the conners adult ADHD rating scale-self-report: confirmation of factor structure in a large sample of participants with ADHD.

2013

Objective: The Conners Adult ADHD Rating Scales (CAARS) assess symptoms specific to adults that are frequently used and have been translated into German. The current study tests the factor structure of the CAARS in a large sample of German adults with ADHD and compares the means of the CAARS subscales with those of healthy German participants. Method: CAARS were completed by 466 participants with ADHD and 851 healthy control participants. Confirmatory factor analysis was used to establish model fit with the American original. Comparisons between participants with ADHD and healthy controls and influences of gender, age, and degree of education were analyzed. Results: Confirmatory factor anal…

AdultMalemedicine.medical_specialtyMedizinFactor structurebehavioral disciplines and activitiesGermanConners Adult ADHD Rating Scales (CAARS)diagnostic issuesRating scaleGermanyHealthy controlmental disordersDevelopmental and Educational Psychologymedicineadult ADHD assessmentADHDHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersPsychiatrySelf reportadult ADHDMiddle AgedConfirmatory factor analysislanguage.human_languageLarge sampleClinical PsychologyAttention Deficit Disorder with HyperactivitylanguageFemaleSelf ReportPsychologyJournal of attention disorders
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Hepatogenic differentiation of human mesenchymal stem cells from adipose tissue in comparison with bone marrow mesenchymal stem cells

2006

AIM: To investigate and compare the hepatogenic transdifferentiation of adipose tissue-derived stem cells (ADSC) and bone marrow-derived mesenchymal stem cells (BMSC) in vitro. Transdifferentiation of BMSC into hepatic cells in vivo has been described. Adipose tissue represents an accessible source of ADSC, with similar characteristics to BMSC. METHODS: BMSCs were obtained from patients undergoing total hip arthroplasty and ADSC from human adipose tissue obtained from lipectomy. Cells were grown in medium containing 15% human serum. Cultures were serum deprived for 2 d before cultivating under similar pro-hepatogenic conditions to those of liver development using a 2-step protocol with sequ…

AdultTranscriptional ActivationPathologymedicine.medical_specialtyCellular differentiationAdipose tissueBone Marrow CellsBiologyStem cell markerCytochrome P-450 Enzyme SystemClinical ResearchAlbuminsCell Line TumormedicineCytochrome P-450 CYP3AHumansCells CulturedAgedCCAAT-Enhancer-Binding Protein-betaRegeneration (biology)Mesenchymal stem cellTransdifferentiationGastroenterologyCell DifferentiationCytochrome P-450 CYP2E1Mesenchymal Stem CellsGeneral MedicineMiddle AgedPhenotypeAdipose TissueGene Expression RegulationHepatocyte Nuclear Factor 4HepatocytesHepatic stellate cellCancer researchThy-1 AntigensStem cellWorld Journal of Gastroenterology
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