Search results for "Imbalance"

showing 10 items of 68 documents

Contribution of allelic imbalance to colorectal cancer

2018

Point mutations in cancer have been extensively studied but chromosomal gains and losses have been more challenging to interpret due to their unspecific nature. Here we examine high-resolution allelic imbalance (AI) landscape in 1699 colorectal cancers, 256 of which have been whole-genome sequenced (WGSed). The imbalances pinpoint 38 genes as plausible AI targets based on previous knowledge. Unbiased CRISPR-Cas9 knockout and activation screens identified in total 79 genes within AI peaks regulating cell growth. Genetic and functional data implicate loss of TP53 as a sufficient driver of AI. The WGS highlights an influence of copy number aberrations on the rate of detected somatic point muta…

0301 basic medicineDenmarkLoss of HeterozygosityGeneral Physics and AstronomyAllelic ImbalanceLoss of heterozygosityGenotypeddc:576.5RNA Small Interferinglcsh:ScienceRNA Small Interfering/geneticsGeneticsMultidisciplinaryQGenomicsPhenotype3. Good healthGENOMEPhenotypesyöpägeenitAllelic ImbalanceTumor Suppressor Protein p53/geneticsColorectal NeoplasmsChromosomes Human Pair 8GENESDNA Copy Number VariationsGenotypeScienceTranscription Factors/geneticsGenomicscolorectal cancerBiologyArticleGeneral Biochemistry Genetics and Molecular BiologyProto-Oncogene Proteins p21(ras)Proto-Oncogene Proteins p21(ras)/genetics03 medical and health sciencesmedicineHumansPoint MutationGenetic Predisposition to DiseaseGenepaksusuolisyöpäChromosome AberrationsWhole Genome SequencingHUMAN-COLONGene Expression ProfilingPoint mutationCancerGeneral Chemistrymedicine.diseaseColorectal Neoplasms/geneticsENHANCERS030104 developmental biologyCELLSlcsh:Q3111 BiomedicineTumor Suppressor Protein p53CRISPR-Cas SystemsmutaatiotTranscription FactorsMicrosatellite Repeats
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NAFLD and Atherosclerosis Are Prevented by a Natural Dietary Supplement Containing Curcumin, Silymarin, Guggul, Chlorogenic Acid and Inulin in Mice F…

2017

Non-alcoholic fatty liver disease (NAFLD) confers an increased risk of cardiovascular diseases. NAFDL is associated with atherogenic dyslipidemia, inflammation and renin-angiotensin system (RAS) imbalance, which in turn lead to atherosclerotic lesions. In the present study, the impact of a natural dietary supplement (NDS) containing Curcuma longa, silymarin, guggul, chlorogenic acid and inulin on NAFLD and atherosclerosis was evaluated, and the mechanism of action was examined. C57BL/6 mice were fed an HFD for 16 weeks; half of the mice were simultaneously treated with a daily oral administration (os) of the NDS. NAFLD and atherogenic lesions in aorta and carotid artery (histological analys…

0301 basic medicineMaleAngiotensinogenAdministration OralSettore BIO/09 - Fisiologiachemistry.chemical_compoundMice0302 clinical medicineNon-alcoholic Fatty Liver DiseasePlant GumsCommiphorachemistry.chemical_classificationNutrition and Dieteticsnon-alcoholic fatty liver disease; atherogenic lesions; diet-induced obesity; natural dietary supplement; renin-angiotensin system imbalance; Profiler PCR arrayAngiotensin IIFatty liverInulinNeoplasm Proteinsrenin-angiotensin system imbalance030211 gastroenterology & hepatologyatherogenic lesionmedicine.symptomChlorogenic AcidSilymarinmedicine.medical_specialtynatural dietary supplementCurcumindiet-induced obesityProfiler PCR array; atherogenic lesions; diet-induced obesity; natural dietary supplement; non-alcoholic fatty liver disease; renin-angiotensin system imbalanceInflammationBiologyDiet High-FatFatty Acid-Binding ProteinsArticle03 medical and health sciencesInternal medicineRenin–angiotensin systemmedicineAnimalsRNA MessengerProfiler PCR arrayatherogenic lesionsPlant ExtractsFatty acidLipid metabolismmedicine.diseaseAtherosclerosisLipid MetabolismMice Inbred C57BL030104 developmental biologyEndocrinologychemistryGene Expression RegulationSuppressor of Cytokine Signaling 3 ProteinDietary SupplementsCurcuminSteatosisDyslipidemiaFood ScienceNutrients
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Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival

2019

Genomic instability pathways in colorectal cancer (CRC) have been extensively studied, but the role of retrotransposition in colorectal carcinogenesis remains poorly understood. Although retrotransposons are usually repressed, they become active in several human cancers, in particular those of the gastrointestinal tract. Here we characterize retrotransposon insertions in 202 colorectal tumor whole genomes and investigate their associations with molecular and clinical characteristics. We find highly variable retrotransposon activity among tumors and identify recurrent insertions in 15 known cancer genes. In approximately 1% of the cases we identify insertions in APC, likely to be tumor-initi…

0301 basic medicineMaleGenome instabilityMICROSATELLITE INSTABILITYHYPOMETHYLATIONCarcinogenesisColorectal cancergenetic processestransposonitGeneral Physics and AstronomyRetrotransposon02 engineering and technologyKaplan-Meier EstimateGenome0302 clinical medicineCancer genomicslcsh:ScienceGenetics0303 health sciencesGastrointestinal tractMultidisciplinaryQISLAND METHYLATOR PHENOTYPEGastroenterologyfood and beveragesgenomiikkaMiddle Aged021001 nanoscience & nanotechnology3. Good healthGene Expression Regulation NeoplasticCpG sitesyöpägeenit030220 oncology & carcinogenesisDNA methylationAllelic ImbalanceWHOLE-GENOMEFemaleSVA ELEMENTS0210 nano-technologyColorectal NeoplasmsScience3122 Cancersinformation scienceGenomicssuolistosyövätBiologyGeneral Biochemistry Genetics and Molecular BiologyArticleGenomic Instability03 medical and health sciencesCell Line TumormedicineHumansAged030304 developmental biologySOMATIC L1 RETROTRANSPOSITIONCpG Island Methylator PhenotypeGene Expression ProfilingfungiMicrosatellite instabilityGeneral ChemistryDNA Methylationmedicine.diseaseGENEMutagenesis Insertional030104 developmental biologyLong Interspersed Nucleotide ElementsCPGhealth occupationsCancer researchlcsh:QCpG Islands3111 BiomedicineCaco-2 Cells
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Sobre el desequilibrio económico en materia de pensión compensatoria : Algunas novedades jurisprudenciales. Comentario a las ssts núm. 495/2019, de 2…

2021

This paper analyses some jurisprudential novelties about the economic imbalance that give the right to receive the compensatory allowance in case of separation or divorce.

:CIENCIAS JURÍDICAS [UNESCO]separationnúm. 100/2020desequilibrio económicodivorce2070-8157 22082 Revista Boliviana de Derecho 565487 2021 31 7730071 Sobre el desequilibrio económico en materia de pensión compensatoria Algunas novedades jurisprudenciales. Comentario a las ssts núm. 495/2019de 25 septiembre 2019de 12 febrero 2020y 29 junio 2020 (rec. 3672/2019) Verda y BeamonteJosé Ramón de This paper analyses some jurisprudential novelties about the economic imbalance that give the right to receive the compensatory allowance in case of separation or divorce. Pensión compensatoriaUNESCO::CIENCIAS JURÍDICASeconomic imbalance 620 633separacióndivorcioCompensatory allowance
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Predicting presenteeism via effort-reward imbalance and dispositional optimism: Is it the interaction that matters? Results from The Saxony Longitudi…

2019

BACKGROUND The importance of experienced work stress and individual traits as well as their interplay is analyzed with regard to dysfunctional coping behavior in case of sickness. OBJECTIVE The aim of this study was to examine the predictive capability of effort-reward imbalance (ERI) including overcommitment, meaning the intrinsic propensity in terms of excessive work-related expenditure (OC), in consideration of dispositional optimism/pessimism on presenteeism. METHODS A total of 353 men and women aged 38 from the 25th panel wave of The Saxony Longitudinal Study in 2011 were included in the analysis. Effort-reward imbalance (ERI) including overcommitment was assessed with the Effort-Rewar…

AdultMale050103 clinical psychologyLongitudinal studymedia_common.quotation_subjectDispositional optimismDysfunctional familyWorkloadPessimismOccupational StressRewardGermanySurveys and Questionnaires0502 economics and businessHumans0501 psychology and cognitive sciencesLongitudinal StudiesOccupational Healthmedia_commonOptimism05 social sciencesRehabilitationPublic Health Environmental and Occupational HealthRegression analysisPresenteeismExplained variationEffort reward imbalancePessimismPresenteeismFemalePsychology050203 business & managementClinical psychologyWork
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Pathological implications of Th1/Th2 cytokine genetic variants in Behçet's disease: Data from a pilot study in a Sicilian population

2013

Cytokines act as pleiotropic polypeptides able to regulate inflammatory/immune responses and to provide important signals in physiological and pathological processes. Several cytokines (Th1, Th2, and Th17) seem to be involved in the pathophysiology of Behçet's disease, a chronic immune-mediated disease characterized by oral and genital lesions and ocular inflammation. Its individual susceptibility seems to be modulated by genetic variants in genes codifying these cytokines. Th1 and Th17 seem to be involved in the disease's active phases, and Th2 seems to affect the development or severity of the disease; however, contrasting data are reported. In this study, some genetic variants of the Th1…

AdultMaleGenotypePopulationPilot ProjectsBehcet's diseaseDiseaseBiologyPolymorphism Single NucleotideBiochemistryYoung AdultImmune systemTh1 and Th2 cytokines Immune imbalance Behc¸et’s disease Polymorphisms SusceptibilityGene FrequencyGenotypeGeneticsmedicineHumansSettore MED/05 - Patologia ClinicaeducationSicilyMolecular BiologyPathologicalEcology Evolution Behavior and SystematicsSettore MED/04 - Patologia Generaleeducation.field_of_studyBehcet SyndromeInterleukinsGenetic VariationGeneral MedicineMiddle Agedmedicine.diseaseHuman geneticsPathophysiologySettore MED/16 - ReumatologiaImmunologyFemale
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Overcommitment as a predictor of effort-reward imbalance: evidence from an 8-year follow-up study.

2016

Objective The effort–reward imbalance (ERI) model includes the personal characteristic of overcommitment (OC) and the job-related characteristics of effort, reward, and ERI, all of which are assumed to play a role in an employee’s health and well-being at work. The aim of the present longitudinal study was to shed more light on the dynamics of the ERI model by investigating the basic hypotheses related to the role of OC in the model, ie, to establish whether an employee’s OC could be a risk factor for an increased experience of high effort, low reward, and high ERI at work. Methods The study was based on 5-wave, 8-year follow-up data collected among Finnish professionals in 2006 (T1, N=747)…

AdultMaleLongitudinal studypredictorWorkloadStructural equation modelingJob Satisfaction03 medical and health sciences0302 clinical medicineRewardRisk Factorseffort–reward imbalanceSurveys and Questionnaires0502 economics and businesseffort–reward imbalance modelHumansLongitudinal StudiesRisk factorta515FinlandOccupational HealthCausal modeljob strainModels StatisticalJob strain05 social sciencesPublic Health Environmental and Occupational HealthERI modelWorkloadfollow-up studyReciprocal determinism030210 environmental & occupational healthERIJob satisfactionFemaleseurantatutkimusPublic aspects of medicineRA1-1270Psychologycross-lagged analysis050203 business & managementovercommitmentStress PsychologicalDemographyFollow-Up StudiesScandinavian journal of work, environmenthealth
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The value of the short-term fetal heart rate variation for timing the delivery of growth-retarded fetuses.

2008

OBJECTIVE: To assess the clinical value of the short-term fetal heart rate variation (STV) for timing the delivery of severely growth-retarded fetuses, many associated with pre-eclampsia. DESIGN: Retrospective cohort study. SETTING: John Radcliffe Maternity Hospital, Oxford, UK. POPULATION: Two hundred and fifty-seven fetuses with a birthweight less than third percentile and a last computerised cardiotocography performed within 24 h of delivery. METHODS: Analysis of the relationship between antepartum STV and the perinatal outcome. MAIN OUTCOME MEASURES: Stillbirth rate and the acid-base status at birth. RESULTS: There were no stillbirths or neonatal deaths (NNDs) within 24 h in the study p…

AdultMalePercentilemedicine.medical_specialtyTime FactorsAdolescentCardiotocographyGestational AgeAcid-Base ImbalanceHeart ratemedicineHumansCardiotocographyreproductive and urinary physiologyRetrospective StudiesFetusPregnancyFetal Growth Retardationmedicine.diagnostic_testbusiness.industryObstetricsInfant NewbornObstetrics and GynecologyRetrospective cohort studyHeart Rate Fetalmedicine.diseaseDelivery ObstetricGestationPopulation studyFemalebusinessBJOG : an international journal of obstetrics and gynaecology
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Obstructive sleep apnoea syndrome (OSAS): effects on the vestibular system

2010

SUMMARY Aim of the present study was to evaluate the effects of obstructive sleep apnoea syndrome (OSAS) on the peripheral and central vestibular system, by means of a case series prospective study at the University referral centre of Otolaryngology Head and Neck Surgery; 45 consecutive patients suffering from OSAS were compared with a control group of 30 volunteer subjects selected from among the department employees. Severity of the disease was evaluated by means of cardio-respiratory function monitoring during sleep; the apnoea-hypopnoea index was calculated. Both groups underwent: 1) head and neck examination; 2) fibre-optic examination; 3) pure tone audiometry; 4) evaluation of eye mov…

AdultMaleSleep Apnea ObstructiveOSASMiddle AgedDizzinessVestibologyImbalanceYoung AdultVestibular DiseasesVertigoHumansDisequilibriumFemaleProspective StudiesActa Otorhinolaryngologica Italica
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Transformation of follicular lymphoma to diffuse large cell lymphoma is associated with a heterogeneous set of DNA copy number and gene expression al…

2002

AbstractGenomic aberrations in a series of paired biopsy samples from patients who presented initially with follicle center lymphoma (FCL) and subsequently transformed to diffuse large B-cell lymphoma (DLBCL) were measured by array comparative genomic hybridization (CGH). The consequences of these aberrations on gene expression were determined by comparison with expression analysis on these specimens using cDNA microarrays. A heterogeneous pattern of acquired genomic abnormalities was observed upon transformation, some of which were recurrent in small subsets of patients. Some of the genomic aberration acquired upon transformation, such as gain/amplification of 1q21-q24, 2p16 (REL/BCL11A ge…

DNA ComplementaryImmunologyFollicular lymphomaLocus (genetics)BiologyAllelic ImbalanceBiochemistryGene duplicationmedicineChromosomes HumanHumansGeneLymphoma FollicularOligonucleotide Array Sequence AnalysisGeneticsChromosome AberrationsGene Expression ProfilingGene AmplificationCell BiologyHematologyDNA Neoplasmmedicine.diseaseBCL6Gene Expression Regulation NeoplasticCell Transformation NeoplasticDisease ProgressionLymphoma Large B-Cell DiffuseDNA microarrayChromosome DeletionDiffuse large B-cell lymphomaComparative genomic hybridizationBlood
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