Search results for "38"

showing 10 items of 1730 documents

Role of the DNA repair glycosylase OGG1 in the activation of murine splenocytes

2017

OGG1 (8-oxoguanine-DNA glycosylase) is the major DNA repair glycosylase removing the premutagenic DNA base modification 8-oxo-7,8-dihydroguanine (8-oxoG) from the genome of mammalian cells. In addition, there is accumulating evidence that OGG1 and its substrate 8-oxoG might function in the regulation of certain genes, which could account for an attenuated immune response observed in Ogg1-/- mice in several settings. Indications for at least two different mechanisms have been obtained. Thus, OGG1 could either act as an ancillary transcription factor cooperating with the lysine-specific demethylase LSD1 or as an activator of small GTPases. Here, we analysed the activation by lipopolysaccaride…

0301 basic medicineGuanineDNA RepairDNA repairp38 mitogen-activated protein kinasesBiologyBiochemistryDNA GlycosylasesMice03 medical and health sciencesAnimalsMolecular BiologyTranscription factorTumor Necrosis Factor-alphaKinaseActivator (genetics)MacrophagesDNACell BiologyBase excision repairMolecular biology030104 developmental biologyGene Expression RegulationDNA glycosylaseTumor necrosis factor alphaSpleenDNA DamageTranscription FactorsDNA Repair
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The analysis of estrogen receptor-α positive breast cancer stem-like cells unveils a high expression of the serpin proteinase inhibitor PI-9: Possibl…

2016

Abstract Breast cancer stem cells seem to play important roles in breast tumor recurrence and endocrine therapy resistance, although the underlying mechanisms have not been well established. Moreover, in some tumor systems the immunosurveillance failure against cancer cells has been related to the presence of the granzyme B inhibitor PI-9. This study explored the status of PI-9 in tumorspheres isolated from estrogen receptor-α positive (ERα+) breast cancer MCF7 cells. Studies were performed in tertiary tumorspheres which possess high levels of stemness markers (Nanog, Oct3/4 and Sox2) and self-renewal ability. The exposure to estrogens (17-β estradiol and genistein) increased the number and…

0301 basic medicineHomeobox protein NANOGReceptors CXCR4Cancer Researchmedicine.medical_specialtyEstrogen receptorBreast NeoplasmsBiologyp38 Mitogen-Activated Protein KinasesGranzymes03 medical and health sciences0302 clinical medicineBreast cancerSOX2Internal medicineserpin proteinase inhibitor 9 breast cancer stem-like cells breast cancer estrogen receptorsSettore BIO/10 - BiochimicamedicineHumansSerpinsCell ProliferationEstrogen Receptor alphaCancermedicine.diseaseGenisteinGene Expression Regulation NeoplasticImmunosurveillance030104 developmental biologyEndocrinologyOncology030220 oncology & carcinogenesisCancer cellMCF-7 CellsNeoplastic Stem CellsCancer researchFemaleNeoplasm Recurrence LocalStem cellSignal Transduction
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Loss of cellular FLICE-inhibitory protein promotes acute cholestatic liver injury and inflammation from bile duct ligation.

2017

Cholestatic liver injury results from impaired bile flow or metabolism and promotes hepatic inflammation and fibrogenesis. Toxic bile acids that accumulate in cholestasis induce apoptosis and contribute to early cholestatic liver injury, which is amplified by accompanying inflammation. The aim of the current study was to evaluate the role of the antiapoptotic caspase 8-homolog cellular FLICE-inhibitory (cFLIP) protein during acute cholestatic liver injury. Transgenic mice exhibiting hepatocyte-specific deletion of cFLIP (cFLIP−/−) were used for in vivo and in vitro analysis of cholestatic liver injury using bile duct ligation (BDL) and the addition of bile acids ex vivo. Loss of cFLIP in h…

0301 basic medicineLiver CirrhosisTime FactorsPhysiologyCASP8 and FADD-Like Apoptosis Regulating ProteinInflammationApoptosisp38 Mitogen-Activated Protein KinasesHepatitisBile Acids and Salts03 medical and health sciencesNecrosisCholestasisPhysiology (medical)medicineHepatic Stellate CellsAnimalsASK1Genetic Predisposition to DiseaseLigationCells CulturedTumor Necrosis Factor alpha-Induced Protein 3chemistry.chemical_classificationLiver injuryCommon Bile DuctMice KnockoutReactive oxygen speciesHepatologyBile duct ligationGastroenterologyTranscription Factor RelAmedicine.diseaseOxidative Stress030104 developmental biologyCholedocholithiasisPhenotypechemistryLiverNeutrophil InfiltrationApoptosisFLICE Inhibitory ProteinCancer researchHepatocytesCytokinesmedicine.symptomInflammation MediatorsSignal TransductionAmerican journal of physiology. Gastrointestinal and liver physiology
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IFI16 reduced expression is correlated with unfavorable outcome in chronic lymphocytic leukemia.

2017

Chronic lymphocytic leukemia (CLL) is the most common leukemia in adults. Its clinical course is typically indolent; however, based on a series of pathobiological, clinical, genetic, and phenotypic parameters, patient survival varies from less than 5 to more than 20 years. In this paper, we show for the first time that the expression of the interferon-inducible DNA sensor IFI16, a member of the PYHIN protein family involved in proliferation inhibition and apoptosis regulation, is associated with the clinical outcome in CLL. We studied 99 CLLs cases by immunohistochemistry and 10 CLLs cases by gene expression profiling. We found quite variable degrees of IFI16 expression among CLLs cases. No…

0301 basic medicineMaleChronic lymphocytic leukemiaGene Expressionhemic and lymphatic diseasesGene expression80 and overImmunology and AllergyChronicNuclear ProteinCD20Aged 80 and overLeukemiaMembrane GlycoproteinsZAP-70 Protein-Tyrosine KinasebiologyZAP70Nuclear ProteinsGeneral MedicineMiddle AgedPhenotypeImmunohistochemistryLymphocyticchronic lymphocytic leukemia; gene expression; IFI16; immunohistochemistry; prognosis; ZAP70; Adult; Aged; Aged 80 and over; Antigens CD38; Female; Gene Expression Profiling; Humans; Immunohistochemistry; Leukemia Lymphocytic Chronic B-Cell; Male; Membrane Glycoproteins; Middle Aged; Nuclear Proteins; Phosphoproteins; Treatment Outcome; Young Adult; ZAP-70 Protein-Tyrosine Kinase; Gene Expression; Immunology and Allergy; 2734; Microbiology (medical)LeukemiaTreatment OutcomePhosphoproteinimmunohistochemistryImmunohistochemistryZAP70FemaleMembrane GlycoproteinprognosiHumanMicrobiology (medical)Adult2734IFI16; ZAP70; chronic lymphocytic leukemia; gene expression; immunohistochemistry; prognosisNOPathology and Forensic Medicine03 medical and health sciencesYoung AdultmedicineHumansAntigensIFI16Agedbusiness.industryGene Expression ProfilingB-Cellchronic lymphocytic leukemia; gene expression; IFI16; immunohistochemistry; prognosis; ZAP70; ADP-ribosyl Cyclase 1; Adult; Aged; Aged 80 and over; Female; Gene Expression Profiling; Humans; Immunohistochemistry; Leukemia Lymphocytic Chronic B-Cell; Male; Membrane Glycoproteins; Middle Aged; Nuclear Proteins; Phosphoproteins; Treatment Outcome; Young Adult; ZAP-70 Protein-Tyrosine Kinase; Gene Expression; 2734; Immunology and Allergy; Microbiology (medical)medicine.diseasePhosphoproteinsADP-ribosyl Cyclase 1Leukemia Lymphocytic Chronic B-CellGene expression profilingchronic lymphocytic leukemia; gene expression; IFI16; immunohistochemistry; prognosis; ZAP70; Immunology and Allergy; 2734; Microbiology (medical)030104 developmental biologygene expressionCancer researchbiology.proteinchronic lymphocytic leukemiaprognosisbusinessCD38APMIS : acta pathologica, microbiologica, et immunologica Scandinavica
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Genetic Variation in HSD17B13 Reduces the Risk of Developing Cirrhosis and Hepatocellular Carcinoma in Alcohol Misusers.

2020

Background and aims Carriage of rs738409:G in patatin-like phospholipase domain containing 3 (PNPLA3) is associated with an increased risk for developing alcohol-related cirrhosis and hepatocellular carcinoma (HCC). Recently, rs72613567:TA in hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) was shown to be associated with a reduced risk for developing alcohol-related liver disease and to attenuate the risk associated with carriage of PNPLA3 rs738409:G. This study explores the risk associations between these two genetic variants and the development of alcohol-related cirrhosis and HCC. Approach and results Variants in HSD17B13 and PNPLA3 were genotyped in 6,171 participants, including 1,03…

0301 basic medicineMaleCirrhosis17-Hydroxysteroid DehydrogenasesVARIANTPROGRESSIONGastroenterologyCohort StudiesLiver disease0302 clinical medicineSNP RS738409G ALLELEDEPENDENCELiver Cirrhosis Alcoholic600 Technology610 Medicine & healthAged 80 and overeducation.field_of_studyFramingham Risk ScoreLiver NeoplasmsASSOCIATIONlipotoxicityMiddle AgedAlcoholism1101 Medical Biochemistry and Metabolomics1107 ImmunologyHepatocellular carcinomaadiponutrin030211 gastroenterology & hepatologyFemalecandidate genesLife Sciences & Biomedicinemedicine.medical_specialtyCarcinoma HepatocellularPopulation610 Medicine & healthLower riskRisk Assessment03 medical and health sciencesLIVER-DISEASEInternal medicinemedicinegenetic risk associationHumansAdiponutrineducationPNPLA3METAANALYSISAgedDISEASE-ASSOCIATED MORTALITYScience & TechnologyHepatologyGastroenterology & Hepatologybusiness.industryfibrosisGenetic Variation1103 Clinical SciencesOdds ratiomedicine.disease030104 developmental biologyhost geneticsbusinessgenetic susceptibility
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Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.

2017

Abstract The rapid advancement of next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has prompted its clinical application in several fields of medicine. Currently, there are no specific guidelines for the use of NGS in the field of neonatal medicine and in the diagnosis of genetic diseases in critically ill newborn infants. As a consequence, NGS may be underused with reduced diagnostic success rate, or overused, with increased costs for the healthcare system. Most genetic diseases may be already expressed during the neonatal age, but their identification may be complicated by nonspecific presentation, esp…

0301 basic medicineMaleNeonatal intensive care unitDiseaseReview030105 genetics & heredityPediatricsWhole Exome SequencingNeonateNeonatalOutcome Assessment Health CareDiagnosisPolicy MakingExome sequencingSanger sequencingGenomelcsh:RJ1-570Perinatology and Child HealthSettore MED/38Intensive Care UnitsItalyWhole-exome sequencingPractice Guidelines as TopicsymbolsWESFemaleHumanDiagnosiNICUmedicine.medical_specialtyMendelian03 medical and health sciencessymbols.namesakeOutcome Assessment (Health Care)Neonatal ScreeningNeonatal intensive care unitGeneticIntensive Care Units NeonatalExome SequencingmedicineDiagnosis; Genetic; Genome; Mendelian; Neonatal intensive care unit; Neonate; NICU; WES; WGS; Whole-exome sequencing; Pediatrics Perinatology and Child HealthHumansGenetic TestingIntensive care medicineSettore MED/06 - ONCOLOGIA MEDICAGenetic heterogeneityCritically illbusiness.industryGenome HumanInfant NewbornInfantlcsh:PediatricsNewbornInfant newborn030104 developmental biologyDiagnosis; Genetic; Genome; Mendelian; NICU; Neonatal intensive care unit; Neonate; WES; WGS; Whole-exome sequencing; Female; Genetic Testing; Genome Human; Humans; Infant; Infant Newborn; Intensive Care Units Neonatal; Italy; Male; Neonatal Screening; Outcome Assessment (Health Care); Policy Making; Whole Exome Sequencing; Practice Guidelines as TopicPediatrics Perinatology and Child HealthDifferential diagnosisbusinessWGS
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Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer

2018

Microsatellite instability (MSI) leads to accumulation of an excessive number of mutations in the genome, mostly small insertions and deletions. MSI colorectal cancers (CRCs), however, also contain more point mutations than microsatellite-stable (MSS) tumors, yet they have not been as comprehensively studied. To identify candidate driver genes affected by point mutations in MSI CRC, we ranked genes based on mutation significance while correcting for replication timing and gene expression utilizing an algorithm, MutSigCV. Somatic point mutation data from the exome kit-targeted area from 24 exome-sequenced sporadic MSI CRCs and respective normals, and 12 whole-genome-sequenced sporadic MSI CR…

0301 basic medicineMedicine (General)Candidate geneclinical evaluationgenetic identificationgenetic analysisQH426-470medicine.disease_causeChromatin Epigenetics Genomics & Functional Genomicswhole exome sequencingddc:590mutator genesingle nucleotide polymorphismddc:576.5Gene Regulatory NetworksExomeExome sequencingCancercancer cellGeneticsMutation1184 Genetics developmental biology physiology3. Good healthgenetic codesyöpägeenitpriority journalMolecular Medicinewild typepoint mutationSystems MedicineColorectal Neoplasmscongenital hereditary and neonatal diseases and abnormalitiesddc:025.063/5703122 Cancerscancer geneticsSingle-nucleotide polymorphismcolorectal cancerBiologygene frequencyta3111mikrosatelliititcolony formationR105W geneArticle03 medical and health sciencesR5-920Gene interactionReportGeneticsmedicineHumanscontrolled studyhumanneoplasmspaksusuolisyöpäPoint mutationgene interactionhuman celltumor-related geneMicrosatellite instabilityMolecular Sequence AnnotationSequence Analysis DNAmedicine.diseaseta3122digestive system diseaseshuman tissueSTK38L gene030104 developmental biologyvalidation processgene expressionSMARCB1 genemicrosatellite instability3111 Biomedicinegene replicationReports
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Time-course of thiol oxidation of protein phosphatases during cerulein-induced acute pancreatitis

2018

Acute pancreatitis (AP) is an acute inflammatory process of the pancreatic gland. The aim of this work was to evaluate the role of thiol oxidation of key proteins that can be involved in the regulation of the inflammatory process during AP. AP was induced in C57BL/6 mice by 7 hourly subcutaneous injections of cerulein (50 ug/kg bw). Animals were sacrificed after 1, 3, 5 and 7 injections of cerulein. One hour after the first injection, hyperoxidation of peroxiredoxin 1–4 was detected coinciding with a H2O2 peak. Three hours later, a marked up-regulation of mRNA and protein expression of sulfiredoxin, partially mediated by Nrf-2, takes place. The up-regulation of sulfiredoxin seems to be resp…

0301 basic medicineMessenger RNA030102 biochemistry & molecular biologyChemistryp38 mitogen-activated protein kinasesThiol oxidationPhosphataseProtein phosphatase 2Pharmacologymedicine.diseaseBiochemistry03 medical and health sciencesSulfiredoxin0302 clinical medicine030220 oncology & carcinogenesisPhysiology (medical)medicineAcute pancreatitisPeroxiredoxinFree Radical Biology and Medicine
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The Anti-apoptotic Murine Cytomegalovirus Protein vMIA-m38.5 Induces Mast Cell Degranulation.

2020

Mast cells (MC) represent "inbetweeners" of the immune system in that they are part of innate immunity by acting as first-line sentinels for environmental antigens but also provide a link to adaptive immunity by secretion of chemokines that recruit CD8 T cells to organ sites of infection. An interrelationship between MC and cytomegalovirus (CMV) has been a blank area in science until recently when the murine model revealed a role for MC in the resolution of pulmonary infection by murine CMV (mCMV). As to the mechanism, MC were identified as a target cell type of mCMV. Infected MC degranulate and synthesize the CC-chemokine ligand-5 (CCL-5), which is released to attract protective virus-spec…

0301 basic medicineMicrobiology (medical)Chemokinebone marrow-derived mast cells (BMMC)Muromegalovirusmurine cytomegalovirus030106 microbiologyImmunologygene m38.5lcsh:QR1-502CytomegalovirusApoptosisInhibitor of apoptosisMicrobiologylcsh:MicrobiologyCell Degranulation03 medical and health sciencesMiceImmune systemCellular and Infection MicrobiologyCytotoxic T cellAnimalsperitoneal exudate-derived mast cells (PEMC)Mast CellsdegranulationInnate immune systembiologyDegranulationvirus diseasesTransfectionBrief Research ReportAcquired immune systemCell biologyvMIA030104 developmental biologyInfectious Diseasesbiology.proteinmast cell-specific Cre recombinationApoptosis Regulatory ProteinsFrontiers in cellular and infection microbiology
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The unbalanced p53/SIRT1 axis may impact lymphocyte homeostasis in COVID-19 patients

2021

Abstract Background/objectives A dysregulated inflammatory profile plays an important role in coronavirus disease-2019 (COVID-19) pathogenesis. Moreover, the depletion of lymphocytes is typically associated with an unfavourable disease course. We studied the role and impact of p53 and deacetylase Sirtuin 1 (SIRT1) on lymph-monocyte homeostasis and their possible effect on T and B cell signalling. Methods Gene expression analysis and flow cytometry were performed on peripheral blood mononuclear cells (PBMC) of 35 COVID-19 patients and 10 healthy donors (HD). Inflammatory cytokines, the frequency of Annexin+ cells among CD3+ T cells and CD19+ B cell subsets were quantified. Results PBMC from …

0301 basic medicineMicrobiology (medical)Male030106 microbiologyInflammationInfectious and parasitic diseasesRC109-216CD19ArticleProinflammatory cytokineBLNK Inflammation03 medical and health sciences0302 clinical medicineSirtuin 1Lymphocyte homeostasismedicineHomeostasisHumans030212 general & internal medicineLymphocytesInterleukin-7 receptorB cellAgedInflammationBLNKbiologySirtuin 1SARS-CoV-2COVID-19p53/SIRT1General MedicineIL-7RMiddle Agedmedicine.anatomical_structureInfectious DiseasesSettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICABLNK; COVID-19; IL-7R; inflammation; p53/SIRT1ImmunologyB-cell linkerbiology.proteinCytokinesFemalemedicine.symptomTumor Suppressor Protein p53
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