Search results for " RECEPTOR"

showing 10 items of 5090 documents

Neuropeptide Y (NPY) in cerebrospinal fluid from patients with Huntington's Disease: increased NPY levels and differential degradation of the NPY1-30…

2016

Huntington's disease (HD) is an inherited and fatal polyglutamine neurodegenerative disorder caused by an expansion of the CAG triplet repeat coding region within the HD gene. Progressive dysfunction and loss of striatal GABAergic medium spiny neurons (MSNs) may account for some of the characteristic symptoms in HD patients. Interestingly, in HD, MSNs expressing neuropeptide Y (NPY) are spared and their numbers is even up-regulated in HD patients. Consistent with this, we report here on increased immuno-linked NPY (IL-NPY) levels in human cerebrospinal fluid (hCSF) from HD patients (Control n = 10; early HD n = 9; mid HD n = 11). As this antibody-based detection of NPY may provide false pos…

0301 basic medicineAdultMalemedicine.medical_specialtyCathepsin DDynorphinMedium spiny neuronBiochemistry03 medical and health sciencesCellular and Molecular NeuroscienceMice0302 clinical medicineCerebrospinal fluidHuntington's diseaseInternal medicinemental disordersmedicineAnimalsHumansNeuropeptide YNeprilysinAgedThimet oligopeptidaseChemistryMiddle Agedmedicine.diseaseNeuropeptide Y receptorPeptide FragmentsRats030104 developmental biologyEndocrinologyHEK293 CellsHuntington DiseaseProteolysisFemale030217 neurology & neurosurgeryBiomarkersJournal of neurochemistry
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Vitamin D receptor polymorphisms and 25-hydroxyvitamin D in a group of Sicilian multiple sclerosis patients

2016

Multiple sclerosis (MS) is an auto-immune disease whose etiology remains controversial. Both genetic and environmental factors are thought to be involved in the risk of developing the disease. The purpose of our study was to assess the association of Vitamin D receptor (VDR) polymorphisms with MS and to investigate the interaction of these polymorphisms with vitamin D levels. A total of 179 Sicilian subjects, including 104 MS patients and 75 healthy controls, were studied. The most common VDR polymorphisms (Fok-I, Bsm-I, Taq-I and Apa-I) were genotyped by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analyses in both groups and serum 25-hydroxyv…

0301 basic medicineAdultMalemedicine.medical_specialtyMultiple SclerosisGenotypeVDR polymorphismsDermatologyCalcitriol receptor25(OH)D; Multiple sclerosis; VDR polymorphisms; Vitamin D; Adult; Female; Gene Frequency; Genotype; Humans; Male; Middle Aged; Multiple Sclerosis; Receptors Calcitriol; Sicily; Vitamin D; Polymorphism Restriction Fragment Length03 medical and health sciences0302 clinical medicineGene FrequencyCalcitriolInternal medicineGenotypeReceptorsmedicineGenetic predispositionVitamin D and neurologyHumansMultiple sclerosiAlleleVitamin DPolymorphismAllele frequencySicilyVDR25(OH)Dbusiness.industryMultiple sclerosisGeneral MedicineMiddle Agedmedicine.diseaseVitamin D 25(OH)DPsychiatry and Mental healthSettore BIO/12 - Biochimica Clinica E Biologia Molecolare Clinica030104 developmental biologyEndocrinologyRestriction Fragment LengthImmunologyReceptors CalcitriolSettore MED/26 - NeurologiaFemaleNeurology (clinical)Restriction fragment length polymorphismbusiness030217 neurology & neurosurgeryPolymorphism Restriction Fragment Length
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CYP27A1, CYP24A1, and RXR-α Polymorphisms, Vitamin D, and Multiple Sclerosis: a Pilot Study.

2018

Multiple sclerosis (MS) is a neurodegenerative autoimmune disease resulting from a complex interaction of genetic and environmental factors. Hypovitaminosis D seems to contribute to MS susceptibility as both an environmental and a genetic risk factor. The aim of our study was to investigate the association of SNPs in CYP27A1, CYP24A1, and RXR- α genes, vitamin D status, and MS risk. We performed a nested case-control study on patients with multiple sclerosis and healthy controls. Serum 25(OH)D3 levels and genotyping of CYP27A1, CYP24A1, and RXR-α -SNPs were investigated both in MS patients and in healthy controls. Serum 25(OH)D3 levels were measured by a high-performance liquid chromatograp…

0301 basic medicineAdultMalemedicine.medical_specialtyMultiple SclerosisRXRSingle-nucleotide polymorphismPilot ProjectsPolymorphism Single Nucleotide03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineInternal medicineGenotypemedicineVitamin D and neurologyHumansVitamin DAlleleVitamin D3 24-HydroxylaseGenotypingAutoimmune disease25-Hydroxyvitamin D 2Retinoid X Receptor alphabusiness.industryMultiple sclerosisGeneral MedicineMiddle Agedmedicine.diseaseMinor allele frequencyCYP24A1030104 developmental biologyEndocrinologyCase-Control StudiesCYP27A1Cholestanetriol 26-MonooxygenaseFemalebusiness030217 neurology & neurosurgeryJournal of molecular neuroscience : MN
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Altered distribution and function of splenic innate lymphoid cells in adult chronic immune thrombocytopenia

2018

IF 7.607; International audience; Innate lymphoid cells (ILCs) have been characterized as innate immune cells capable to modulate the immune response in the mucosae. Human ILCs have been rarely described in secondary lymphoid organs except in tonsils. Moreover, their function and phenotype in human secondary lymphoid organs during autoimmune diseases have never been studied. We took advantage of splenectomy as a treatment of immune thrombocytopenia (ITP) to describe and compare splenic ILC from 18 ITP patients to 11 controls. We first confirmed that ILC3 represented the most abundant ILC subset in human non-inflamed spleens, accounting for 90% of total ILC, and that they were mostly constit…

0301 basic medicineAdultMalemedicine.medical_treatmentImmunologySplenectomyGene ExpressionSpleenInnate lymphoid cells[SDV.CAN]Life Sciences [q-bio]/Cancer03 medical and health sciencesInterferon-gamma0302 clinical medicineImmune systemhemic and lymphatic diseasesmedicineImmunology and AllergyHumansLymphocyte CountLymphocytesskin and connective tissue diseasesAutoimmune diseasePurpura Thrombocytopenic IdiopathicInnate immune systemNatural Cytotoxicity Triggering Receptor 2business.industryMacrophagesInnate lymphoid cellInterleukin-2 Receptor alpha SubunitGranulocyte-Macrophage Colony-Stimulating FactorCell DifferentiationMiddle Agedmedicine.diseasePathophysiologyImmunity Innate3. Good healthImmune thrombocytopenia030104 developmental biologymedicine.anatomical_structureLymphatic systemCase-Control StudiesImmunologySplenectomyFemalebusinessSpleen030215 immunology
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The carriers of the A/G-G/G allelic combination of the c.2039 A>G and c.-29 G>A FSH receptor polymorphisms retrieve the highest number of oocytes in …

2016

The objective of this study was the elucidation of the possible role of the single-nucleotide polymorphisms (SNP) at position -29 and 2039 of the FSH receptor gene (FSHR) as independent predictive markers of ovarian response. Indeed, the tailoring of reproductive treatments is crucial for both maximizing the success of IVF patients and obtaining a reduction in hypo- or hyper-response rates. This prospective, observational study analyzed the association of -29 and 2039 FSHR polymorphisms with the number of retrieved oocytes in 140 patients attending an IVF/ICSI cycle for severe male factors (≤5,000,000 spermatozoa/mL) or tubal factors at the ANDROS Day Surgery Clinic, Palermo, Italy. The res…

0301 basic medicineAdultmedicine.medical_specialtyClinical variablesAdolescentGenotypePregnancy RateOocyte RetrievalFertilization in VitroBiology03 medical and health sciences0302 clinical medicineOvulation InductionPregnancyInternal medicineCOHmedicineGeneticsSNPHumansSperm Injections IntracytoplasmicAlleleGenetics (clinical)AllelesTreatment personalization030219 obstetrics & reproductive medicineIVF/ICSISurgery clinicObstetrics and GynecologyGeneral MedicineIvf icsiHuman genetics030104 developmental biologyEndocrinologyReproductive MedicineFSH receptor polymorphismOocytesReceptors FSHFemaleFsh receptor geneFollicle-stimulating hormone receptorDevelopmental Biology
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Mechanisms of action of metformin in type 2 diabetes: Effects on mitochondria and leukocyte-endothelium interactions.

2020

Type 2 diabetes (T2D) is a very prevalent, multisystemic, chronic metabolic disorder closely related to atherosclerosis and cardiovascular diseases. It is characterised by mitochondrial dysfunction and the presence of oxidative stress. Metformin is one of the safest and most effective anti-hyperglycaemic agents currently employed as first-line oral therapy for T2D. It has demonstrated additional beneficial effects, unrelated to its hypoglycaemic action, on weight loss and several diseases, such as cancer, cardiovascular disorders and metabolic diseases, including thyroid diseases. Despite the vast clinical experience gained over several decades of use, the mechanism of action of metformin i…

0301 basic medicineAdvanced glycation end product (AGE)AMP-activated protein kinase (AMPK)endocrine system diseasesglycerol 3-phosphate dehydrogenase (GPD)Clinical Biochemistrytype 1 diabetes (T1D)Type 2 diabetesmTORC1Review Articleelectron transport chain (ETC)PharmacologyMitochondrionmedicine.disease_causeBiochemistry0302 clinical medicineLeukocytesCREB-binding protein (CBP)inner mitochondrial membrane (IMM)lcsh:QH301-705.5lcsh:R5-920cAMP response element-binding (CREB)glucagon-like peptide 1 (GLP-1)type 2 diabetes (T2D)Type 2 diabetesMetforminMetforminMitochondriamedicine.anatomical_structurereactive nitrogen species (RNS)reactive oxygen species (ROS)sirtuin (SIRT)medicine.symptomlcsh:Medicine (General)cardiovascular diseases (CVD)medicine.drugEndotheliumnitric oxide synthase (NOS)polycystic ovary syndrome (PCOS)Pathophysiologyinsulin resistance (IR)superoxide dismutase (SOD)03 medical and health sciencesglycated haemoglobin (HbA1c)medicineorganic cation transporter (OCT)HumansEndotheliumintercellular adhesion molecule-1 (ICAM-1)business.industryoxidative phosphorylation (OXPHOS)Organic Chemistryperoxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1α)AMPKmedicine.diseaseAtherosclerosisvascular cell adhesion molecule-1 (VCAM-1)Treatment030104 developmental biologylcsh:Biology (General)Mechanism of actionDiabetes Mellitus Type 2Oxidative stressbusinessinsulin receptor substrate (IRS)030217 neurology & neurosurgeryOxidative stress
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A Hazelnut-Enriched Diet Modulates Oxidative Stress and Inflammation Gene Expression without Weight Gain

2019

Introduction. Inflammation is associated with obesity condition and plays a pivotal role in the onset and progression of many chronic diseases. Among several nutraceutical foods, hazelnuts (Corylus avellana L.) are considered an excellent anti-inflammatory and hypolipidemic food being the second richest source of monounsaturated fatty acids among nuts and because they are rich in vitamins, minerals, and phenolic compounds. Materials and Methods. A prospective pilot clinical trial on 24 healthy volunteers who consumed daily, as a snack, 40 g of hazelnuts (261.99 kcal/1096.17 kJ) for six weeks was conducted. Anthropometric measurements, body composition analysis, and nutrigenomic analysis on …

0301 basic medicineAgingAntioxidantArticle Subjectmedicine.medical_treatmentGene ExpressionInflammationPilot Projects030204 cardiovascular system & hematologyBiologymedicine.disease_causeSettore BIO/09BiochemistryCalcitriol receptorCorylus; Gene Expression; Healthy Volunteers; Humans; Inflammation; Middle Aged; Obesity; Oxidative Stress; Pilot Projects; Prospective Studies03 medical and health sciences0302 clinical medicineNutraceuticalCorylusmedicineHumansFood scienceObesityProspective Studieslcsh:QH573-671Inflammationlcsh:CytologySettore BIO/12Cell BiologyGeneral MedicineMiddle Agedmedicine.diseaseObesityHealthy VolunteersOxidative Stress030104 developmental biologyMethylenetetrahydrofolate reductasebiology.proteinClinical Studymedicine.symptomWeight gainOxidative stress
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Triggering of Toll-like Receptors in Old Individuals. Relevance for Vaccination

2019

Aging is characterized by a general decline in a range of physiological functions, with a consequent increase in the risk of developing a variety of chronic diseases and geriatric syndromes. Additionally, increasing age is accompanied by a progressive decline in both innate and acquired immune system, referred to as immunosenescence. This impaired ability to mount an efficient immune response after exposure to microorganisms or vaccines represents a major challenge in acquiring protection against pathogens in aging. Therefore, there is still a great need for vaccines that are tailored to optimally stimulate the aged immune system, thus promoting more successful aging. Various strategies ca…

0301 basic medicineAgingCellular immunityImmunosenescencemedicine.medical_treatmentDendritic cells03 medical and health sciences0302 clinical medicineImmune systemAdjuvants ImmunologicImmunityTLRDrug DiscoverymedicineHumansAgedAged 80 and overPharmacologyImmunity CellularInnate immune systembusiness.industryToll-Like ReceptorsVaccinationImmunosenescenceAcquired immune systemVaccination030104 developmental biologyImmunologyCytokinesbusinessAdjuvant030215 immunologyCurrent Pharmaceutical Design
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Role of miRNA in the Regulatory Mechanisms of Estrogens in Cardiovascular Ageing

2018

Cardiovascular diseases are a worldwide health problem and are the leading cause of mortality in developed countries. Together with experimental data, the lower incidence of cardiovascular diseases in women than in men of reproductive age points to the influence of sex hormones at the cardiovascular level and suggests that estrogens play a protective role against cardiovascular disease and that this role is also modified by ageing. Estrogens affect cardiovascular function via their specific estrogen receptors to trigger gene expression changes at the transcriptional level. In addition, emerging studies have proposed a role for microRNAs in the vascular effects mediated by estrogens. miRNAs …

0301 basic medicineAgingEstrogen receptorFisiologiaDiseaseReview Article030204 cardiovascular system & hematologyBioinformaticsBiochemistry03 medical and health sciences0302 clinical medicineGene expressionmicroRNAMedicineAnimalsHumanslcsh:QH573-671GeneSistema cardiovascularRegulation of gene expressionlcsh:Cytologybusiness.industryEstrogensCell BiologyGeneral MedicineMicroRNAs030104 developmental biologyGene Expression RegulationAgeingCardiovascular DiseasesbusinessHormone
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The emerging role of Notch pathway in ageing: Focus on the related mechanisms in age-related diseases

2016

Notch signaling is an evolutionarily conserved pathway, which is fundamental for the development of all tissues, organs and systems of human body. Recently, a considerable and still growing number of studies have highlighted the contribution of Notch signaling in various pathological processes of the adult life, such as age-related diseases. In particular, the Notch pathway has emerged as major player in the maintenance of tissue specific homeostasis, through the control of proliferation, migration, phenotypes and functions of tissue cells, as well as in the cross-talk between inflammatory cells and the innate immune system, and in onset of inflammatory age-related diseases. However, until …

0301 basic medicineAgingNotchNotch pathwayNotch signaling pathwayInflammationa signaling complex networkBiologyBiochemistryBiomarkers and targets for personalized treatmentBiomarkers and targets for personalized treatments03 medical and health sciencesAge relatedAge-related diseaseReceptorsmedicineA signaling complex network; Age-related diseases; Ageing; Biomarkers and targets for personalized treatments; Involved mechanisms; Notch pathway; Aging; Animals; Homeostasis; Humans; Inflammation; Inflammation Mediators; Receptors Notch; Signal TransductionAnimalsHomeostasisHumansMolecular BiologyInflammationInnate immune systemReceptors NotchSettore BIO/11Involved mechanismsAge-related diseases; Ageing; Biomarkers and targets for personalized treatments; Involved mechanisms; Notch pathway; a signaling complex networkPhenotypeInvolved mechanismAgeing030104 developmental biologyNeurologyAgeingImmunologymedicine.symptomSignal transductionInflammation MediatorsNeuroscienceHomeostasisAge-related diseasesBiotechnologySignal Transduction
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