Search results for " profili"

showing 10 items of 846 documents

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

2010

PURPOSE. The purpose of this study was to test the ability of the genotyping microarray for Usher syndrome (USH) to identify the mutations responsible for the disease in a cohort of 183 patients with USH. METHODS. DNA from 183 patients with Usher syndrome from the Spanish population was analyzed using a genotyping microarray containing 429 previously identified disease-associated variants in eight USH genes. Mutations detected by the array were confirmed by direct sequencing. Haplotype analysis was also performed in families carrying common Spanish mutations. RESULTS. The genotyping microarray identified 43 different variants, divided into 32 disease causative and 11 probably non-pathologic…

medicine.medical_specialtyGenotypeMicroarrayUsher syndromeDNA Mutational AnalysisCadherin Related ProteinsCell Cycle ProteinsNerve Tissue ProteinsMyosinsBiologymedicine.disease_causePolymerase Chain ReactionReceptors G-Protein-CoupledMolecular geneticsGenotypemedicineotorhinolaryngologic diseasesHumansGenotypingAllelesAdaptor Proteins Signal TransducingOligonucleotide Array Sequence AnalysisGeneticsExtracellular Matrix ProteinsMutationGene Expression ProfilingHaplotypeMembrane ProteinsCadherinsmedicine.diseaseGene expression profilingCytoskeletal ProteinsSpainMyosin VIIaMutationUsher Syndromes
researchProduct

Differential expression of two glucocorticoid receptors in seabass (teleost fish) head kidney after exogeneous cortisol inoculation

2009

Stressful conditions include a prompt release of corticosteroid hormones which can mediate gene expression through glucocorticoid receptors (GR). Since two seabass (Dicentrarchus labrax) GRs have been cloned and sequenced from peritoneal cavity cells (DlGR1) and liver (DlGR2), a comparative amino acid sequence analysis that included Haplochromis burtoni HbGRs, was carried out and homologies disclosed. The DlGR1 and DlGR2 deduced aminoacid sequences showed 61% identity (I) and 70% similarity (S). Moreover, DlGR2 was similar to HbGR2b (69% I, 73% S), and the DlGR1 to HbGR1 (72% I, 78% S). In addition, we examined the expression of the DlGRs after exogeneous cortisol inoculation into the perit…

medicine.medical_specialtyHydrocortisonePhysiologySettore BIO/05 - ZoologiaGlucocorticoid receptorKidneyBiochemistryCortisolPeritoneal cavityGlucocorticoid receptorReceptors GlucocorticoidInternal medicineGene expressionmedicineAnimalsDicentrarchus labraxSea bassMolecular BiologyDicentrarchus labrax; Cortisol; Glucocorticoid receptor; Real-time PCRHead KidneyKidneybiologyReverse Transcriptase Polymerase Chain ReactionGene Expression Profilingbiology.organism_classificationmedicine.anatomical_structureEndocrinologyGene Expression RegulationHormone receptorDicentrarchusBassReal-time PCR
researchProduct

Weaning induces NOS-2 expression through NF-κB modulation in the lactating mammary gland: importance of GSH

2005

Zaragozá, R; Miralles, VJ; Rus, AD; García, C; Carmena, R; García-Trevijano, ER; Barber, T; Pallardó, FV; Torres, L; Viña, JR. At the end of lactation the mammary gland undergoes involution, a process characterized by apoptosis of secretory cells and tissue remodelling. To gain insight into this process, we analysed the gene expression profile by oligonucleotide microarrays during lactation and after forced weaning. Up-regulation of inflammatory mediators and acute-phase response genes during weaning was found. Expression of IκBα (inhibitory κBα), a protein known to modulate NF-κB (nuclear factor-κB) nuclear translocation, was significantly up-regulated. On the other hand, there was a time-…

medicine.medical_specialtyMammary glandDown-RegulationNitric Oxide Synthase Type IIWeaninglactationBiologyBiochemistryNF-κBMammary Glands AnimalWestern blotnitric oxideInternal medicineLactationGene expressionmedicineGSHinvolutionWeaningAnimalsInvolution (medicine)Rats WistarPromoter Regions GeneticMolecular Biologymedicine.diagnostic_test:CIENCIAS DE LA VIDA::Bioquímica [UNESCO]Gene Expression ProfilingNF-kappa BUNESCO::CIENCIAS DE LA VIDA::BioquímicaCell BiologyGlutathioneRatsUp-RegulationIκBαProtein Transportmedicine.anatomical_structureEndocrinologyEnzyme InductionFemaleChromatin immunoprecipitationProtein BindingResearch Article
researchProduct

In Vivo Molecular Imaging of Somatostatin Receptors in Pancreatic Islet Cells and Neuroendocrine Tumors by Miniaturized Confocal Laser-Scanning Fluor…

2010

The aim of the study was to evaluate real time in vivo molecular imaging of somatostatin receptors (sstrs) using a handheld miniaturized confocal laser scan microscope (CLM) in conjunction with fluorescein-labeled octreotate (OcF) in healthy mice and murine models of neuroendocrine tumors. For CLM a small rigid probe (diameter 7 mm) with an integrated single line laser (488 nm) was used (optical slice thickness 7 μm; lateral resolution 0.7 μm). OcF was synthesized via Fmoc solid-phase peptide synthesis and purified by HPLC showing high-affinity binding to the sstr2 (IC50 6.2 nmol). For in vitro evaluation, rat and human pancreatic cancer cells were used and characterized with respect to its…

medicine.medical_specialtyPathologyConfocalEndocrinology Diabetes and MetabolismClinical BiochemistryMice NudeNeuroendocrine tumorsOctreotideBinding CompetitiveBiochemistryIslets of LangerhansMiceEndocrinologyIn vivoInternal medicinePancreatic cancerCell Line TumormedicineSomatostatin receptor 2AnimalsHumansReceptors SomatostatingeographyMice Inbred BALB Cgeography.geographical_feature_categoryMicroscopy ConfocalMiniaturizationChemistrySomatostatin receptorReverse Transcriptase Polymerase Chain ReactionGene Expression ProfilingBiochemistry (medical)Reproducibility of Resultsmedicine.diseaseIsletFluoresceinsImmunohistochemistryMolecular ImagingNeuroendocrine TumorsEndocrinologyEx vivoThe Journal of Clinical Endocrinology & Metabolism
researchProduct

Expression of Cytokeratin 7 and 20 in Pathological Conditions of the Bile Tract

2003

Expression of cytokeratin 7 (CK7) and cytokeratin 20 (CK20) helps to establish the origin of biliary and metastatic carcinomas. We investigated the expression of CK7 and CK20 in inflammatory, metaplastic and neoplastic conditions of the bile ducts, and evaluated possible relationships between the CK expression pattern and extrahepatic bile duct/gallbladder carcinomas (EBDCs) or intrahepatic bile duct carcinomas (IBDCs). We used immunohistochemistry for the investigation of 48 formalin-fixed, paraffin-embedded specimens grouped as: A) lithiasic or inflamed surgically resected extrahepatic bile ducts/gallbladders: all were CK7+/CK20+; B) percutaneous liver biopsies from patients with chronic …

medicine.medical_specialtyPathologyIntestinal metaplasia2734Intrahepatic bile ductsBile duct tumors; Cytokeratin 20 (CK20); Cytokeratin 7 (CK7); Intestinal metaplasia; Bile Duct Diseases; Bile Duct Neoplasms; Bile Ducts Extrahepatic; Bile Ducts Intrahepatic; Carcinoma; Cell Transformation Neoplastic; Gallbladder Diseases; Gallbladder Neoplasms; Gene Expression Profiling; Humans; Immunohistochemistry; Intermediate Filament Proteins; Keratin-20; Keratin-7; Keratins; 2734Bile Duct DiseasesGallbladder DiseasesKeratin-20Settore MED/08 - Anatomia PatologicaGastroenterologyIntermediate Filament ProteinPathology and Forensic MedicinePrimary sclerosing cholangitisCytokeratinPrimary biliary cirrhosisIntermediate Filament ProteinsBile Ducts ExtrahepaticInternal medicineBile duct tumormedicineHumansCytokeratin 7 (CK7)Bile Duct NeoplasmGallbladder NeoplasmBile ductbusiness.industryGene Expression ProfilingGallbladderKeratin 20CarcinomaGallbladder DiseaseKeratin-7Bile Duct DiseaseCell Biologymedicine.diseaseImmunohistochemistryBile Ducts IntrahepaticCell Transformation Neoplasticmedicine.anatomical_structureBile Duct NeoplasmsKeratinKeratin 7KeratinsGallbladder NeoplasmsbusinessCytokeratin 20 (CK20)HumanPathology - Research and Practice
researchProduct

Patient Profiling Based on Spectral Clustering for an Enhanced Classification of Patients with Tension-Type Headache

2020

Profiling groups of patients in clusters can provide meaningful insights into the features of the population, thus helping to identify people at risk of chronification and the development of specific therapeutic strategies. Our aim was to determine if spectral clustering is able to distinguish subgroups (clusters) of tension-type headache (TTH) patients, identify the profile of each group, and argue about potential different therapeutic interventions. A total of 208 patients (n = 208) with TTH participated. Headache intensity, frequency, and duration were collected with a 4-week diary. Anxiety and depressive levels, headache-related burden, sleep quality, health-related quality of life, pre…

medicine.medical_specialtyPressure painPopulationgroupslcsh:Technologysensitizationlcsh:Chemistry03 medical and health sciences0302 clinical medicineQuality of lifePatient profilingInternal medicinemedicineGeneral Materials SciencepaineducationInstrumentationlcsh:QH301-705.5030304 developmental biologyFluid Flow and Transfer Processes0303 health scienceseducation.field_of_studyspectral clusteringSleep qualitybusiness.industrylcsh:TProcess Chemistry and TechnologyGeneral Engineeringtension-type headacheSpectral clusteringlcsh:QC1-999Computer Science ApplicationsPsicologialcsh:Biology (General)lcsh:QD1-999lcsh:TA1-2040Anxietymedicine.symptombusinesslcsh:Engineering (General). Civil engineering (General)030217 neurology & neurosurgerylcsh:PhysicsApplied Sciences
researchProduct

Safety and tolerability of β3-adrenoceptor agonists in the treatment of overactive bladder syndrome - insight from transcriptosome and experimental s…

2016

We have reviewed the safety and tolerability of β3-adrenoceptor agonists, specifically mirabegron and solabegron, a newly emerging drug class for the treatment of the overactive bladder syndrome. We discuss them mechanistically in the context of expression and other preclinical data.Based on a systematic PubMed search, incidence of overall adverse events, hypertension, dry mouth, and constipation are comparable between mirabegron or solabegron and placebo. Hypertension is the most frequently observed adverse event, but has a similar incidence with mirabegron and placebo. Nevertheless, severe uncontrolled hypertension has become a contraindication for use of mirabegron based on observation o…

medicine.medical_specialtySide effect030232 urology & nephrologyUrologyContext (language use)Adrenergic beta-3 Receptor AgonistsBenzoates03 medical and health sciences0302 clinical medicineSolabegronmedicineAnimalsHumansPharmacology (medical)Adverse effectAniline Compoundsbusiness.industryUrinary Bladder OveractiveGene Expression ProfilingBiphenyl CompoundsGeneral MedicineBiphenyl compoundThiazolesTolerability030220 oncology & carcinogenesisAnesthesiaReceptors Adrenergic beta-3AcetanilidesTolterodinebusinessMirabegronmedicine.drugExpert opinion on drug safety
researchProduct

Chronic heart damage following doxorubicin treatment is alleviated by lovastatin.

2014

The anticancer efficacy of anthracyclines is limited by cumulative dose-dependent early and delayed cardiotoxicity resulting in congestive heart failure. Mechanisms responsible for anthracycline-induced heart damage are controversially discussed and effective preventive measures are preferable. Here, we analyzed the influence of the lipid lowering drug lovastatin on anthracycline-induced late cardiotoxicity three month after treatment of C57BL/6 mice with five low doses of doxorubicin (5×3mg/kg BW; i.p.). Doxorubicin increased the cardiac mRNA levels of BNP, IL-6 and CTGF, while the expression of ANP remained unchanged. Lovastatin counteracted these persisting cardiac stress responses evoke…

medicine.medical_specialtyStatinCardiotonic AgentsAnthracyclinemedicine.drug_classBiologymedicine.disease_causeDNA MitochondrialInternal medicineNatriuretic Peptide Brainpolycyclic compoundsmedicineAnimalsDoxorubicinHSP70 Heat-Shock ProteinsLovastatinPharmacologyCardiotoxicityEjection fractionAntibiotics AntineoplasticInterleukin-6Gene Expression ProfilingMyocardiumConnective Tissue Growth Factormedicine.diseaseFibrosisCardiotoxicityMice Inbred C57BLEndocrinologyDoxorubicinHeart failureFemaleLovastatinOxidative stressmedicine.drugDNA DamagePharmacological research
researchProduct

Liver specific deletion of CYLDexon7/8 induces severe biliary damage, fibrosis and increases hepatocarcinogenesis in mice

2012

Background & Aims CYLD is a tumor suppressor gene that is mutated in familial cylindromatosis, an autosomal dominant predisposition to tumors of skin appendages. Reduced CYLD expression has been observed in other tumor entities, including hepatocellular carcinoma. In the present study, we analyzed the role of CYLD in liver homeostasis and hepatocarcinogenesis in vivo . Methods Mice with liver-specific deletion of CYLDexon7/8 ( CYLD FF xAlbCre ) were generated. Liver tissues were histologically analyzed and oval cell activation was investigated. Hepatocarcinogenesis was induced by diethylnitrosamine/phenobarbital (DEN/PB). Microarray expression profiling of livers was performed in untreated …

medicine.medical_specialtyTumor suppressor geneBiliary Tract DiseasesIn Vitro TechniquesBiologymedicine.disease_causeDimethylnitrosamineDeubiquitinating Enzyme CYLDMiceRisk FactorsFibrosisInternal medicinemedicineAnimalsHomeostasisGenetic Predisposition to DiseaseHepatologyLiver NeoplasmsExonsTransforming growth factor betamedicine.diseaseFibrosisMice Mutant StrainsDeubiquitinating Enzyme CYLDMice Inbred C57BLGene expression profilingCysteine EndopeptidasesDisease Models AnimalPhenotypeEndocrinologyLiverPhenobarbitalHepatocellular carcinomaCancer researchbiology.proteinCell activationCarcinogenesisGene DeletionJournal of Hepatology
researchProduct

Estradiol Stimulates Vasodilatory and Metabolic Pathways in Cultured Human Endothelial Cells

2009

Vascular effects of estradiol are being investigated because there are controversies among clinical and experimental studies. DNA microarrays were used to investigate global gene expression patterns in cultured human umbilical vein endothelial cells (HUVEC) exposed to 1 nmol/L estradiol for 24 hours. When compared to control, 187 genes were identified as differentially expressed with 1.9-fold change threshold. Supervised principal component analysis and hierarchical cluster analysis revealed the differences between control and estradiol-treated samples. Physiological concentrations of estradiol are sufficient to elicit significant changes in HUVEC gene expression. Notch signaling, actin cyt…

medicine.medical_specialtyUmbilical Veinsmedicine.drug_classScienceEstrogen receptorBiologyAmidohydrolasesTransforming Growth Factor beta1chemistry.chemical_compoundInternal medicinemedicineCluster AnalysisEstrogen Receptor betaHumansEstrogen receptor betaCell Biology/Gene ExpressionCells CulturedOligonucleotide Array Sequence AnalysisRegulation of gene expressionPrincipal Component AnalysisMultidisciplinaryEstradiolPhysiology/EndocrinologyReverse Transcriptase Polymerase Chain ReactionGene Expression ProfilingQPhysiology/Cardiovascular Physiology and CirculationREstrogen Receptor alphaEndothelial CellsReproducibility of ResultsActin cytoskeletonVasodilationEndocrinologychemistryGene Expression RegulationEstrogenCyclooxygenase 1MedicineSignal transductionAsymmetric dimethylarginineEstrogen receptor alphahormones hormone substitutes and hormone antagonistsMetabolic Networks and PathwaysResearch ArticleSignal TransductionPLoS ONE
researchProduct