Search results for "BINDING PROTEIN"

showing 10 items of 1292 documents

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

2017

IF 3.326; International audience; Kabuki syndrome (KS-OMIM 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance in children with KS and link the performance to several clinical features and molecular data. We recruited 31 children with KMT2D mutations who were 6 to 16 years old. They all completed the Weschler Intelligence Scale for Children, fourth edition. We calculated all indexes: the Full Scale Intellectual Quotient (FSIQ), Verbal Comprehension Index (VCI), Perceptive Reasoning Index (PRI), Processing Speed Index (PSI), and Working Memory Index (WMI…

0301 basic medicineMaleAdolescentVisual impairmentDNA Mutational AnalysisIntelligenceneuropsychologyDisease[SDV.GEN] Life Sciences [q-bio]/GeneticsNeuropsychological Testsgenotype-phenotype correlation03 medical and health sciencesIntensive careIntellectual disabilityGene OrderGeneticsmedicineHumansAbnormalities MultipleChildKMT2D mutationGenetics (clinical)AllelesGenetic Association Studies[SDV.GEN]Life Sciences [q-bio]/GeneticsKabuki syndromebusiness.industryWorking memoryNeuropsychologyWechsler Adult Intelligence Scalemedicine.diseaseHematologic Diseases3. Good healthNeoplasm ProteinsDNA-Binding Proteins030104 developmental biologyPhenotypeVestibular DiseasesGenetic LociFaceMutationFemalemedicine.symptombusinessKabuki syndromeClinical psychology
researchProduct

Peroxisome proliferator-activated receptor alpha deficiency impairs regulatory T cell functions: Possible application in the inhibition of melanoma t…

2016

International audience; Regulatory T (Treg) cells are important to induce and maintain immunological self-tolerance. Although the progress accomplished in understanding the functional mechanism of Treg cells, intracellular molecules that control the mechanisms of their suppressive capacity are still on investigation. The present study showed that peroxisome proliferator-activated receptor-alpha deficiency impaired the suppressive activity of Treg cells on CD4(+)CD25(-) and CD8(+) T cell proliferation. In Treg cells, PPARα gene deletion also induced a decrease of migratory abilities, and downregulated the expression of chemokine receptors (CCR-4, CCR-8 and CXCR-4) and p27(KIP1) mRNA. Treg ce…

0301 basic medicineMaleAdoptive cell transferMESH: Tumor BurdenB16 melanoma tumorMelanoma ExperimentalMESH: T-Lymphocyte SubsetsCD4(+)CD25(+) regulatory T cellsBiochemistryMESH: Mice KnockoutImmunotherapy AdoptiveT-Lymphocytes RegulatoryPPARαMESH : T-Lymphocytes RegulatoryCell MovementT-Lymphocyte SubsetsMESH: Reverse Transcriptase Polymerase Chain ReactionMESH : Cell ProliferationMESH : Cell MovementMESH: AnimalsIL-2 receptorMESH: PPAR alphaMESH: Cell MovementCells CulturedMice KnockoutMESH : Melanoma ExperimentalbiologyMESH : Tumor BurdenReverse Transcriptase Polymerase Chain ReactionMESH : Reverse Transcriptase Polymerase Chain ReactionFOXP3hemic and immune systemsGeneral MedicineMESH: Gene Expression Regulation Neoplastic3. Good healthTumor BurdenMESH: Melanoma ExperimentalDNA-Binding ProteinsGene Expression Regulation Neoplasticmedicine.anatomical_structureMESH: Immunotherapy AdoptiveReceptors ChemokineMESH : DNA-Binding ProteinsMESH: Cells Culturedmedicine.medical_specialtyMESH : Receptors ChemokineMESH: Cell Line TumorRegulatory T cellMESH : Gene Expression Regulation NeoplasticT cellMESH : MaleMESH : PPAR alphachemical and pharmacologic phenomenaMESH : Mice Inbred C57BLMESH : Clonal Anergy03 medical and health sciencesMESH: Mice Inbred C57BLInternal medicineMESH: Cell ProliferationCell Line TumorMESH : Cells CulturedmedicineAnimals[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular BiologyPPAR alpha[ SDV.BBM ] Life Sciences [q-bio]/Biochemistry Molecular BiologyCell ProliferationClonal AnergyPerforinMESH : Cell Line TumorMESH: T-Lymphocytes RegulatoryMolecular biologyMESH: MaleMESH : T-Lymphocyte SubsetsGranzyme BMice Inbred C57BL030104 developmental biologyEndocrinologyPerforinMESH: Clonal Anergybiology.proteinMESH : Mice KnockoutMESH : AnimalsMESH: Receptors ChemokineCD8MESH: DNA-Binding ProteinsMESH : Immunotherapy Adoptive
researchProduct

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
researchProduct

Impact of NADPH oxidase functional polymorphisms in acute myeloid leukemia induction chemotherapy.

2016

Efficacy and toxicity of anthracycline treatment in acute myeloid leukemia (AML) is mediated by reactive oxygen species (ROS). NADPH oxidase is the major endogenous source of ROS and a key mediator of oxidative cardiac damage. The impact of NADPH oxidase polymorphisms (CYBA:rs4673, NCF4:rs1883112, RAC2:rs13058338) was evaluated in 225 adult de novo AML patients. Variant alleles of NCF4 and RAC2 were related to higher complete remission (P=0.035, P=0.016), and CYBA homozygous variant showed lower overall survival with recessive model (P=0.045). Anthracycline-induced cardiotoxicity was associated to NCF4 homozygous variant (P=0.012) and CYBA heterozygous genotype (P=0.027). Novel associations…

0301 basic medicineMaleAnthracyclinePharmacologyBiologyPolymorphism Single NucleotideNephrotoxicity03 medical and health sciences0302 clinical medicineAntineoplastic Combined Chemotherapy ProtocolsGeneticsHumansAgedRetrospective StudiesPharmacologychemistry.chemical_classificationReactive oxygen speciesCardiotoxicityNADPH oxidaseRemission InductionMyeloid leukemiaNADPH OxidasesInduction ChemotherapyMiddle Agedrac GTP-Binding ProteinsRac GTP-Binding ProteinsLeukemia Myeloid Acute030104 developmental biologychemistry030220 oncology & carcinogenesisToxicitybiology.proteinMolecular MedicineFemaleReactive Oxygen SpeciesThe pharmacogenomics journal
researchProduct

Oleoylethanolamide restores alcohol-induced inhibition of neuronal proliferation and microglial activity in striatum

2019

Previous findings demonstrate a homeostatic role for oleoylethanolamide (OEA) signaling in the ethanol-related neuroinflammation and behavior. However, extensive research is still required in order to unveil the effects of OEA on a number of neurobiological functions such as adult neurogenesis, cell survival and resident neuroimmunity that become notably altered by alcohol. Daily consumption of ethanol (10%) for 2 weeks (6.3& #x202F;± 1.1 g/kg/day during last 5 days) caused hypolocomotor activity in rats. This effect appears to rely on central signaling mechanisms given that alcohol increased the OEA levels, the gene expression of OEA-synthesizing enzyme Nape-pld and the number of PPARα-imm…

0301 basic medicineMaleApoptosisOleic AcidsStriatumPPARαOleoylethanolamidechemistry.chemical_compound0302 clinical medicineNeuronseducation.field_of_studyCaspase 3NeurogenesisMicrofilament ProteinsAlanine Transaminasegamma-GlutamyltransferaseHepatobiliary EliminationEthanolaminesMicrogliaAlcoholProto-Oncogene Proteins c-fosLocomotionFOSBSignal Transductionmedicine.medical_specialtyAlcohol DrinkingCell SurvivalPolyunsaturated AlkamidesNeurogenesisPopulationCaspase 3Arachidonic AcidsStriatumAmidohydrolases03 medical and health sciencesCellular and Molecular NeuroscienceInternal medicineGlial Fibrillary Acidic ProteinmedicinePhospholipase DAnimalsPPAR alphaAspartate AminotransferasesProgenitor cellRats WistareducationNeuroinflammationCell ProliferationPharmacologyEthanolCalcium-Binding ProteinsRatsNeostriatum030104 developmental biologyEndocrinologychemistry030217 neurology & neurosurgeryEndocannabinoids
researchProduct

Somatic copy number alterations are associated with EGFR amplification and shortened survival in patients with primary glioblastoma.

2019

Glioblastoma (GBM) is the most common malignant primary tumor of the central nervous system. With no effective therapy, the prognosis for patients is terrible poor. It is highly heterogeneous and EGFR amplification is its most frequent molecular alteration. In this light, we aimed to examine the genetic heterogeneity of GBM and to correlate it with the clinical characteristics of the patients. For that purpose, we analyzed the status of EGFR and the somatic copy number alterations (CNAs) of a set of tumor suppressor genes and oncogenes. Thus, we found GBMs with high level of EGFR amplification, low level and with no EGFR amplification. Highly amplified tumors showed histological features of…

0301 basic medicineMaleCancer ResearchBiopsyL-amp GB EGFR-low amplified glioblastomamedicine.disease_causewt wildtypeMYBPC3 myosin-binding protein C0302 clinical medicineHIC1 hypermethylated in cancer 1Gene duplicationIn Situ Hybridization FluorescenceIDH2 isocitrate dehydrogenase 2MutationRB-pat RB signaling pathwayEGFRvIII epidermal growth factor receptor variant number IIIPAH phenylalanine hydroxylaseGBM glioblastoma IDH-wildtype (glioblastoma multiforme primary glioblastoma).ANOVA ANalysis Of VArianceN-amp GB EGFR-no amplified glioblastomaMiddle AgedCDKN2A cyclin-dependent kinase inhibitor 2Alcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensPrognosisPrimary tumorImmunohistochemistryH-amp GB EGFR-high amplified glioblastomaErbB ReceptorsTKR-pat tyrosine-kinase receptors signaling pathway030220 oncology & carcinogenesisDisease ProgressionCDK6 cyclin-dependent kinase 6CDH1 Cadherin 1FemaleCREM cAMP response element modulatorIHC immunohistochemistryAdultOriginal articleDNA Copy Number VariationsCDKN1B cyclin-dependent kinase inhibitor 1BBiologyRARB retinoic acid receptor betaCNS central nervous systemlcsh:RC254-282IDH1 isocitrate dehydrogenase 1BCL2 B-cell cll/ lymphoma 2CNAs copy number algerationsWHO World Health Organization03 medical and health sciencesYoung Adultp53-pat p53 signaling pathwaymedicineBiomarkers TumorTMA tissue microarrayPTENHumansProtein kinase BPI3K/AKT/mTOR pathwaySurvival analysisAgedGenetic heterogeneityGene AmplificationGFAP glial fibrillary acidic proteinMLPA multiplex ligation-dependent probe amplificationmedicine.diseaseFISH fluorescence in situ hibridizationSurvival AnalysisCDKN2B cyclin-dependent kinase inhibitor 2BPTEN phosphatase and tensin homologEGFR epidermal growth factor receptorCNV-load load of copy number variations030104 developmental biologyMutationPARK2 parkinCancer researchbiology.proteinTCGA The Cancer Genome AtlasLARGE1 acetylglucosaminyltransferase-like protein 1GlioblastomaCHD7 Chromodomain Helicase DNA Binding Protein 7DAPI 4′6-diamidino-2-phenylindoleNeoplasia (New York, N.Y.)
researchProduct

Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.

2016

Aim: To characterize the genotypic and phenotypic extent of multilocus imprinting disturbances (MLID). Materials & methods: We analyzed 37 patients with imprinting disorders (explorative cohort) for DNA methylation changes using the Infinium HumanMethylation450 BeadChip. For validation, three independent cohorts with imprinting disorders or cardinal features thereof were analyzed (84 patients with imprinting disorders, 52 with growth disorder, 81 with developmental delay). Results: In the explorative cohort 21 individuals showed array-based MLID with each one displaying an Angelman or Temple syndrome phenotype, respectively. Epimutations in ZDBF2 and FAM50B were associated with severe …

0301 basic medicineMaleCancer ResearchDevelopmental DisabilitiesMedizinBiology03 medical and health sciencesGenomic ImprintingGenotypeGeneticsHumansImprinting (psychology)Genetic Association StudiesGeneticsProteinsMethylationSequence Analysis DNATemple SyndromeDNA MethylationPhenotypeDNA-Binding Proteins030104 developmental biologyPhenotypeCase-Control StudiesCohortDNA methylationFemaleEpigenomics
researchProduct

Prenatal exposure to mixtures of xenoestrogens and genome-wide DNA methylation in human placenta

2015

BACKGROUND: In utero exposure to xenostrogens may modify the epigenome. We explored the association of prenatal exposure to mixtures of xenoestrogens and genome-wide placental DNA methylation. MATERIALS & METHODS: Sex-specific associations between methylation changes in placental DNA by doubling the concentration of TEXB-alpha exposure were evaluated by robust multiple linear regression. Two CpG sites were selected for validation and replication in additional male born placentas. RESULTS: No significant associations were found, although the top significant CpGs in boys were located in the LRPAP1, HAGH, PPARGC1B, KCNQ1 and KCNQ1DN genes, previously associated to birth weight, Type 2 diabetes…

0301 basic medicineMaleCancer Researchmedicine.medical_specialtymedicine.medical_treatmentPlacentaADNBiologyEpigenesis GeneticAndrology03 medical and health scienceschemistry.chemical_compoundSex FactorsPregnancyPlacentaInternal medicineGeneticsmedicineBirth WeightHumansPrenatalLDL-Receptor Related Protein-Associated ProteinGeneTEXBEndocrine disruptorsDNA methylationEpigenome xenoestrogensRNA-Binding ProteinsEstrogensMethylationEpigenomeSteroid hormone030104 developmental biologyEndocrinologymedicine.anatomical_structureXenoestrogenCpG sitechemistryPrenatal Exposure Delayed EffectsDNA methylationKCNQ1 Potassium ChannelProgrammingCpG IslandsFemaleThiolester HydrolasesCarrier ProteinsGenome-Wide Association Study
researchProduct

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
researchProduct

Antibiotic resistance and population structure of cystic fibrosis Pseudomonas aeruginosa isolates from a Spanish multi-centre study

2017

The first Spanish multi-centre study on the microbiology of cystic fibrosis (CF) was conducted from 2013 to 2014. The study involved 24 CF units from 17 hospitals, and recruited 341 patients. The aim of this study was to characterise Pseudomonas aeruginosa isolates, 79 of which were recovered from 75 (22%) patients. The study determined the population structure, antibiotic susceptibility profile and genetic background of the strains. Fifty-five percent of the isolates were multi-drug-resistant, and 16% were extensively drug-resistant. Defective mutS and mutL genes were observed in mutator isolates (15.2%). Considerable genetic diversity was observed by pulsed-field gel electrophoresis (70 p…

0301 basic medicineMaleCystic FibrosisAntibiotic resistanceArray tubeMulti-locus sequence typing (MLST)medicine.disease_causeGenotypePharmacology (medical)ChildGeneticseducation.field_of_studyMolecular EpidemiologyVirulencePseucforrumus aeruginosaGeneral MedicineMiddle AgedMutS DNA Mismatch-Binding ProteinElectrophoresis Gel Pulsed-FieldInfectious DiseasesChild PreschoolPseudomonas aeruginosaFemalemedicine.drugMicrobiology (medical)AdultAdolescentGenotype030106 microbiologyPopulationVirulenceBiologyCystic fibrosisMicrobiology03 medical and health sciencesYoung AdultAntibiotic resistanceDrug Resistance BacterialmedicineHumansPseudomonas InfectionsTypingeducationGenetic diversityPseudomonas aeruginosaGenetic VariationMutL ProteinsSpainColistinMultilocus Sequence Typing
researchProduct