Search results for "ibi"

showing 10 items of 13473 documents

Sex-Specific Genetic Effects Associated with Pigmentation, Sensitivity to Sunlight, And Melanoma in a Population of Spanish Origin

2016

Background Human pigmentation is a polygenic quantitative trait with high heritability. In addition to genetic factors, it has been shown that pigmentation can be modulated by oestrogens and androgens via up- or down-regulation of melanin synthesis. Our aim was to identify possible sex differences in pigmentation phenotype as well as in melanoma association in a melanoma case-control population of Spanish origin. Methods Five hundred and ninety-nine females (316 melanoma cases and 283 controls) and 458 males (234 melanoma cases and 224 controls) were analysed. We genotyped 363 polymorphisms (single nucleotide polymorphisms (SNPs)) from 65 pigmentation gene regions. Results When samples were…

0301 basic medicinePopulationGenome-wide association studyBiologyQuantitative trait locussusceptibilityGender Studies03 medical and health sciences0302 clinical medicineEndocrinologymedicinesex polymorphismssexpigmentationeducationriskGeneticseducation.field_of_studyvariantsskin cancerMelanomaResearchdeterminantsHeritabilitymedicine.diseasePhenotypeeyecolor030104 developmental biology030220 oncology & carcinogenesisSpanish Origingenome-wide associationskin pigmentationsense organsSkin cancerUV sensitivitypolymorphismsmalignant-melanomaeuropeans
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Predictive validity of the risk SCORE model in a Mediterranean population with dyslipidemia.

2019

Background and aims: Cholesterol treatment for the primary prevention of cardiovascular disease is based on cardiovascular risk, as assessed by the SCORE (Systematic COronary Risk Evaluation) scale. This study aimed to assess the predictive value and clinical utility of the SCORE scale for preventing cardiovascular events and all-cause mortality in people with dyslipidemia and no lipid-lowering treatment. Methods: Patients with dyslipidemia and no lipid-lowering treatment were included from the ESCARVAL-RISK cohort. Cardiovascular risk was calculated by means of the SCORE scale. All deaths and cardiovascular events were recorded for up to five years of follow-up. We calculated sensitivity, …

0301 basic medicinePredictive validityAdultMalemedicine.medical_specialtyTime FactorsPopulationHypercholesterolemia030204 cardiovascular system & hematologyRisk Assessment03 medical and health sciences0302 clinical medicinePredictive Value of TestsRisk FactorsInternal medicineDiabetes mellitusSCOREmedicineHumansProspective StudiesRegistrieseducationAgededucation.field_of_studyFramingham Risk Scorebusiness.industryReproducibility of ResultsMiddle Agedmedicine.diseaseCardiovascular diseaseCardiovascular riskPrognosis030104 developmental biologyCardiovascular DiseasesSpainCohortDisease ProgressionFemaleMetabolic syndromeCardiology and Cardiovascular MedicinebusinessDyslipidemiaKidney diseaseAtherosclerosis
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Genetic Testing for Melanoma—Where Are We With Moderate-Penetrance Genes?

2016

International audience

0301 basic medicinePreimplantation genetic haplotypingSkin Neoplasmscdkn2aPenetranceDermatologypolicy statement update03 medical and health sciencesCDKN2ApredisposesmedicineHumansGenetic Predisposition to DiseaseGenetic Testingmitf germline mutationGeneMelanomaComputingMilieux_MISCELLANEOUSGenetic testingriskGeneticsmedicine.diagnostic_testbusiness.industryMelanomamedicine.diseaseMicrophthalmia-associated transcription factorcancer susceptibilityPenetrance030104 developmental biologyMutation (genetic algorithm)Mutationbusiness[ SDV.MHEP.DERM ] Life Sciences [q-bio]/Human health and pathology/Dermatologyamerican-society[SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology
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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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Prospective Evaluation of Free Energy Calculations for the Prioritization of Cathepsin L Inhibitors.

2017

Improving the binding affinity of a chemical series by systematically probing one of its exit vectors is a medicinal chemistry activity that can benefit from molecular modeling input. Herein, we compare the effectiveness of four approaches in prioritizing building blocks with better potency: selection by a medicinal chemist, manual modeling, docking followed by manual filtering, and free energy calculations (FEP). Our study focused on identifying novel substituents for the apolar S2 pocket of cathepsin L and was conducted entirely in a prospective manner with synthesis and activity determination of 36 novel compounds. We found that FEP selected compounds with improved affinity for 8 out of …

0301 basic medicinePrioritizationMolecular modelHalogenationStereochemistryCathepsin LComputational biology01 natural sciencesMolecular Docking SimulationProspective evaluationCathepsin L03 medical and health sciences0103 physical sciencesDrug DiscoveryHumansEnzyme InhibitorsBinding Sites010304 chemical physicsbiologyChemistryMolecular Docking Simulation030104 developmental biologyPyrimidinesDocking (molecular)Drug Designbiology.proteinMolecular MedicineThermodynamicsProtein BindingJournal of medicinal chemistry
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Betulinic Acid Kills Colon Cancer Stem Cells

2016

Cancer stem cells (CSCs) are considered to be the origin of cancer and it is suggested that they are resistant to chemotherapy. Current therapies fail to eradicate CSCs and therefore selecting a resistant cell subset that is able to facilitate tumor recurrences. Betulinic acid (BetA) is a broad acting natural compound, shown to induce cell death via the inhibition of the stearoyl-CoA- desaturase (SCD- 1). This enzyme converts saturated fatty acids into unsaturated fatty acids and is over-expressed in tumor cells. Here we show that BetA induces rapid cell death in all colon CSCs tested and is able to affect the CSCs directly as shown, via the loss of clonogenic capacity. Similar results were…

0301 basic medicineProgrammed cell deathColorectal cancerMedicine (miscellaneous)Biology03 medical and health scienceschemistry.chemical_compound0302 clinical medicineCancer stem cellBetulinic acidCell Line TumormedicineHumansEnzyme InhibitorsClonogenic assayCell DeathCancer stem cellStearoyl CoA-desaturaseCancerGeneral Medicinemedicine.diseaseBetulinic acidTriterpenesClone CellsColon cancerTumor resistance030104 developmental biologychemistryBiochemistryCell culture030220 oncology & carcinogenesisCancer treatmentColonic NeoplasmsMutationCancer researchNeoplastic Stem CellsStem cellSettore MED/46 - Scienze Tecniche Di Medicina Di LaboratorioPentacyclic TriterpenesStearoyl-CoA DesaturaseCurrent stem cell research & therapy
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BAX inhibitor-1 is a Ca(2+) channel critically important for immune cell function and survival.

2015

The endoplasmic reticulum (ER) serves as the major intracellular Ca(2+) store and has a role in the synthesis and folding of proteins. BAX (BCL2-associated X protein) inhibitor-1 (BI-1) is a Ca(2+) leak channel also implicated in the response against protein misfolding, thereby connecting the Ca(2+) store and protein-folding functions of the ER. We found that BI-1-deficient mice suffer from leukopenia and erythrocytosis, have an increased number of splenic marginal zone B cells and higher abundance and nuclear translocation of NF-κB (nuclear factor-κ light-chain enhancer of activated B cells) proteins, correlating with increased cytosolic and ER Ca(2+) levels. When put into culture, purifie…

0301 basic medicineProgrammed cell deathCytoplasmEncephalomyelitis Autoimmune ExperimentalCell SurvivalT-LymphocytesActive Transport Cell NucleusApoptosisBiologyEndoplasmic Reticulum03 medical and health sciencesAnimalsCalcium SignalingObesityMolecular BiologyCalcium signalingMice KnockoutOriginal PaperB-LymphocytesBAX inhibitor 1Endoplasmic reticulumNF-kappa BMembrane ProteinsCell BiologyLeukopeniaNFKB1Acquired immune systemCell biologyEnzyme ActivationMice Inbred C57BLCytosol030104 developmental biologyApoptosisCaspasesCalciumFemaleSpleen
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Peroxisome proliferator-activated receptor-γ coactivator-1α mediates neuroprotection against excitotoxic brain injury in transgenic mice: role of mit…

2016

Peroxisome proliferator-activated receptor gamma coactivator-1α (PGC-1α) is a transcriptional coactivator involved in the regulation of mitochondrial biogenesis and cell defense. The functions of PGC-1α in physiology of brain mitochondria are, however, not fully understood. To address this we have studied wild-type and transgenic mice with a two-fold overexpression of PGC-1α in brain neurons. Data showed that the relative number and basal respiration of brain mitochondria were increased in PGC-1α transgenic mice compared with wild-type mitochondria. These changes occurred concomitantly with altered levels of proteins involved in oxidative phosphorylation (OXPHOS) as studied by proteomi…

0301 basic medicineProgrammed cell deathKainic acidTransgenebcl-X ProteinPeroxisome proliferator-activated receptorBiologyInhibitor of apoptosisSettore BIO/09 - FisiologiaNeuroprotectionOxidative PhosphorylationInhibitor of Apoptosis ProteinsMice03 medical and health scienceschemistry.chemical_compoundXIAP0302 clinical medicineBrain InjurieInhibitor of Apoptosis ProteinAnimalsCA1 Region HippocampalCells CulturedNeuronschemistry.chemical_classificationNeuroscience (all)Kainic AcidCell DeathAnimalNeuron survivalGeneral NeuroscienceProteomicXIAP; Kainic acid; Mitochondria; Neuron survival; PGC-1α; Proteomics; Animals; Brain Injuries; CA1 Region Hippocampal; Cell Death; Cells Cultured; Inhibitor of Apoptosis Proteins; Kainic Acid; Mice; Mitochondria; Neurons; Oxidative Phosphorylation; Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha; Proto-Oncogene Proteins c-bcl-2; bcl-X Protein; Neuroscience (all)NeuronPeroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alphaMitochondriaCell biologyXIAP030104 developmental biologyProto-Oncogene Proteins c-bcl-2chemistryMitochondrial biogenesisBrain InjuriesImmunologyPGC-1α030217 neurology & neurosurgeryEuropean Journal of Neuroscience
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The anti-cancer drug doxorubicin induces substantial epigenetic changes in cultured cardiomyocytes.

2019

Abstract The anthracycline doxorubicin (DOX) is widely used in cancer therapy with the limitation of cardiotoxicity leading to the development of congestive heart failure. DOX-induced oxidative stress and changes of the phosphoproteome as well as epigenome were described but the exact mechanisms of the adverse long-term effects are still elusive. Here, we tested the impact of DOX treatment on cell death, oxidative stress parameters and expression profiles of proteins involved in epigenetic pathways in a cardiomyocyte cell culture model. Markers of oxidative stress, apoptosis and expression of proteins involved in epigenetic processes were assessed by immunoblotting in cultured rat myoblasts…

0301 basic medicineProgrammed cell deathMethyltransferaseApoptosisToxicologymedicine.disease_causeHistone DeacetylasesEpigenesis GeneticHistones03 medical and health sciences0302 clinical medicinemedicineAnimalsMyocytes CardiacEpigeneticsCells CulturedHistone DemethylasesAntibiotics AntineoplasticbiologyDose-Response Relationship DrugHistone deacetylase 2ChemistryGeneral MedicineEpigenomeHydrogen PeroxideCardiotoxicityCell biologyRatsOxidative Stress030104 developmental biologyHistoneAcetylationDoxorubicin030220 oncology & carcinogenesisbiology.proteinOxidative stressBiomarkersChemico-biological interactions
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How Can Interleukin-1 Receptor Antagonist Modulate Distinct Cell Death Pathways?

2018

Multiple mechanisms of cell death exist (apoptosis, necroptosis, pyroptosis) and the subtle balance of several distinct proteins and inhibitors tightly regulates the cell fate toward one or the other pathway. Here, by combining coimmunoprecipitation, enzyme assays, and molecular simulations, we ascribe a new role, within this entangled regulatory network, to the interleukin-1 receptor antagonist (IL-1Ra). Our study enlightens that IL-1Ra, which usually inhibits the inflammatory effects of IL-1α/β by binding to IL-1 receptor, under advanced pathological states prevents apoptosis and/or necroptosis by noncompetitively inhibiting the activity of caspase-8 and -9. Consensus docking, followed by…

0301 basic medicineProgrammed cell deathProtein ConformationGeneral Chemical EngineeringNecroptosis-Library and Information SciencesMolecular Dynamics SimulationInhibitor of apoptosis01 natural sciencesArticle03 medical and health sciences0103 physical sciencesReceptorsmedicineCaspaseCaspase 8010304 chemical physicsbiologyCell DeathChemistryNeurodegenerationPyroptosisComputational BiologyReceptors Interleukin-1General Chemistrymedicine.diseaseCaspase 9Computer Science ApplicationsCell biologyXIAPEnzyme ActivationInterleukin 1 Receptor Antagonist Protein030104 developmental biologyApoptosisbiology.proteinThermodynamicsInterleukin-1
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