Search results for "TISSUE"

showing 10 items of 4413 documents

SNPs in bone-related miRNAs are associated with the osteoporotic phenotype

2017

AbstractBiogenesis and function of microRNAs can be influenced by genetic variants in the pri-miRNA sequences leading to phenotypic variability. This study aims to identify single nucleotide polymorphisms (SNPs) affecting the expression levels of bone-related mature microRNAs and thus, triggering an osteoporotic phenotype. An association analysis of SNPs located in pri-miRNA sequences with bone mineral density (BMD) was performed in the OSTEOMED2 cohort (n = 2183). Functional studies were performed for assessing the role of BMD-associated miRNAs in bone cells. Two SNPs, rs6430498 in the miR-3679 and rs12512664 in the miR-4274, were significantly associated with femoral neck BMD. Further, we…

0301 basic medicineconformation:Diseases::Wounds and Injuries::Fractures Bone::Hip Fractures [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings]Polimorfismo de nucleótido simpleGene ExpressionboneOsteoblastosDensidad ósea:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]Cohort StudiesGene Frequencysingle nucleotide polymorphismBone DensityBone cellOssosgeneticsFracturas osteoporóticasCells CulturedGeneticsBone mineralMicroARNsMultidisciplinarymicroRNAbiologyQalleleR:Diseases::Wounds and Injuries::Fractures Bone::Osteoporotic Fractures [Medical Subject Headings]clinical trialMiddle Agedcohort analysisPhenotypeHumanosFenotipmedicine.anatomical_structureCancellous BoneosteoblastMedicine:Diseases::Musculoskeletal Diseases::Bone Diseases [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings]:Anatomy::Cells::Connective Tissue Cells::Osteoblasts [Medical Subject Headings]AlelosFenotipomusculoskeletal diseasesmedicine.medical_specialtyGenotypeScienceSingle-nucleotide polymorphismBiologychemistryPolymorphism Single NucleotideArticleBone and Bones:Anatomy::Musculoskeletal System::Skeleton::Bone and Bones::Cancellous Bone [Medical Subject Headings]03 medical and health sciencesCalcification PhysiologicInternal medicinemicroRNAmedicineHumanshumanproceduresAllele:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings]AllelesFemoral neckGenetic associationAgedcell culture:Phenomena and Processes::Musculoskeletal and Neural Physiological Phenomena::Musculoskeletal Physiological Phenomena::Bone Density [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism Genetic::Polymorphism Single Nucleotide [Medical Subject Headings]OsteoblastsEnfermedades óseasFracturas de caderaComputational BiologyCuello femoral:Chemicals and Drugs::Nucleic Acids Nucleotides and Nucleosides::Antisense Elements (Genetics)::RNA Antisense::MicroRNAs [Medical Subject Headings]MicroRNAs030104 developmental biologyEndocrinologymulticenter studybone mineralizationNucleic Acid ConformationOsteoporosispathology:Anatomy::Musculoskeletal System::Skeleton::Bone and Bones::Bones of Lower Extremity::Leg Bones::Femur::Femur Neck [Medical Subject Headings]TranscriptomemetabolismGenotipoFractures
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Activation of Mevalonate Pathway Via LKB1 is Essential for Stability of Treg Cells

2019

Summary: The function of regulatory T (Treg) cells depends on lipid oxidation. However, the molecular mechanism by which Treg cells maintain lipid metabolism after activation remains elusive. Liver kinase B1 (LKB1) acts as a coordinator by linking cellular metabolism to substrate AMP-activated protein kinase (AMPK). We show that deletion of LKB1 in Treg cells exhibited reduced suppressive activity and developed fatal autoimmune inflammation. Mechanistically, LKB1 induced activation of the mevalonate pathway by upregulating mevalonate genes, which was essential for Treg cell functional competency and stability by inducing Treg cell proliferation and suppressing interferon-gamma and interleuk…

0301 basic medicinecongenital hereditary and neonatal diseases and abnormalitiesGeranylgeranyl pyrophosphateKinaseAMPKFOXP3hemic and immune systemschemical and pharmacologic phenomenaLipid metabolismGeneral Biochemistry Genetics and Molecular BiologyCell biology03 medical and health scienceschemistry.chemical_compound030104 developmental biology0302 clinical medicinelcsh:Biology (General)chemistryLipid oxidationMevalonate pathwayskin and connective tissue diseasesProtein kinase Alcsh:QH301-705.5030217 neurology & neurosurgeryHomeostasisSSRN Electronic Journal
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Clinical Guide and Update on Porphyrias.

2019

Physicians should be aware of porphyrias, which could be responsible for unexplained gastrointestinal, neurologic, or skin disorders. Despite their relative rarity and complexity, most porphyrias can be easily defined and diagnosed. They are caused by well-characterized enzyme defects in the complex heme biosynthetic pathway and are divided into categories of acute vs non-acute or hepatic vs erythropoietic porphyrias. Acute hepatic porphyrias (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and aminolevulinic acid dehydratase deficient porphyria) manifest in attacks and are characterized by overproduction of porphyrin precursors, producing often serious abdomin…

0301 basic medicinecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyPorphyrinsGastrointestinal DiseasesVariegate porphyriaPorphobilinogenCongenital erythropoietic porphyriaGastroenterologySkin Diseases03 medical and health sciencesPorphyrias0302 clinical medicineInternal medicinemedicineHumansPorphyria cutanea tardaskin and connective tissue diseasesAcute intermittent porphyriaHepatologybusiness.industryHepatoerythropoietic porphyriaGastroenterologynutritional and metabolic diseasesAminolevulinic Acidmedicine.disease030104 developmental biologyHereditary coproporphyriaPorphyriaPractice Guidelines as Topic030211 gastroenterology & hepatologyErythropoietic protoporphyriaNervous System DiseasesbusinessGastroenterology
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Tissue factor prothrombotic activity is regulated by integrin-arf6 trafficking

2017

Objective— Coagulation initiation by tissue factor (TF) is regulated by cellular inhibitors, cell surface availability of procoagulant phosphatidylserine, and thiol-disulfide exchange. How these mechanisms contribute to keeping TF in a noncoagulant state and to generating prothrombotic TF remain incompletely understood. Approach and Results— Here, we study the activation of TF in primary macrophages by a combination of pharmacological, genetic, and biochemical approaches. We demonstrate that primed macrophages effectively control TF cell surface activity by receptor internalization. After cell injury, ATP signals through the purinergic receptor P2rx7 induce release of TF + microvesicles. T…

0301 basic medicinedynaminsIntegrin alpha4CellCardiorespiratory Medicine and Haematology030204 cardiovascular system & hematologyIntegrin alpha4beta1Inbred C57BLTransgenicMicechemistry.chemical_compound0302 clinical medicineAdenosine TriphosphateCell-Derived MicroparticlesReceptors2.1 Biological and endogenous factorsfibrinGene Knock-In TechniquesAetiologyPhospholipidsTumorbiologyChemistryADP-Ribosylation FactorsHematologyPhosphatidylserineCell biologyProtein Transportmedicine.anatomical_structurePhenotypeProteomeextracellular vesiclesCardiology and Cardiovascular MedicinePurinergic P2X7BiotechnologySignal TransductionGenotypeproteomeClinical SciencesIntegrinMice TransgenicFactor VIIaTransfectionExtracellular vesiclesFibrinArticleCell LineThromboplastin03 medical and health sciencesTissue factorCell Line TumormedicineAnimalsHumansBlood CoagulationMacrophagesThrombosisMice Inbred C57BL030104 developmental biologyCardiovascular System & HematologyADP-Ribosylation Factor 6biology.proteinReceptors Purinergic P2X7
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Celiac disease and endocrine autoimmunity - the genetic link.

2018

Celiac disease is a small intestinal inflammatory disease with autoimmune features that is triggered and maintained by the ingestion of the storage proteins (gluten) of wheat, barley and rye. The prevalence of celiac disease is increased in patients with monoglandular and/or polyglandular autoimmunity and their relatives. Between 10 and 30% of patients with celiac disease are thyroid and/or type 1 diabetes antibody positive, while around 5 to 7% of patients with autoimmune thyroid disease and/or type 1 diabetes are IgA anti-tissue transglutaminase antibody positive. The close relationship between celiac disease and endocrine autoimmunity is largely explained by sharing a common genetic back…

0301 basic medicineendocrine system diseasesTissue transglutaminaseImmunology030209 endocrinology & metabolismAutoimmunityDiseaseHuman leukocyte antigenmedicine.disease_causePolymorphism Single NucleotideAutoimmunityAutoimmune Diseases03 medical and health sciences0302 clinical medicineHLA AntigensGenetic predispositionImmunology and AllergyMedicineHumansGenetic Predisposition to DiseaseType 1 diabetesbiologybusiness.industryThyroidnutritional and metabolic diseasesmedicine.diseasedigestive system diseasesCeliac Disease030104 developmental biologymedicine.anatomical_structureDiabetes Mellitus Type 1Immunologybiology.proteinGluten freebusinessAutoimmunity reviews
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microRNA Expression Profile in Single Hormone Receptor-Positive Breast Cancers is Mainly Dependent on HER2 Status—A Pilot Study

2020

Estrogen (ER) and progesterone (PgR) receptors and HER2 are crucial in the assessment of breast cancer specimens due to their prognostic and predictive significance. Single hormone receptor-positive breast cancers are less common and their clinical course is less favorable than ER(+)/PgR(+) tumors. Their molecular features, especially microRNA (miRNA) profiles, have not been investigated to date. Tumor specimens from 36 chemonaive breast cancer patients with known ER and PgR status (18 ER(+)/PgR(&minus

0301 basic medicineendocrine systemmedicine.drug_classClinical BiochemistryEstrogen receptorBiologyArticleprogesterone receptor03 medical and health sciences0302 clinical medicineBreast cancerbreast cancerHER2Progesterone receptormedicineReceptorskin and connective tissue diseaseslcsh:R5-920microRNAMicroRNA Expression Profilemedicine.diseaseFold change030104 developmental biologyEstrogenHormone receptor030220 oncology & carcinogenesisbreast cancer; estrogen receptor; progesterone receptor; HER2; microRNACancer researchlcsh:Medicine (General)hormones hormone substitutes and hormone antagonistsestrogen receptorDiagnostics
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Resveratrol and Vascular Function

2019

Resveratrol increases the production of nitric oxide (NO) in endothelial cells by upregulating the expression of endothelial NO synthase (eNOS), stimulating eNOS enzymatic activity, and preventing eNOS uncoupling. At the same time, resveratrol inhibits the synthesis of endothelin-1 and reduces oxidative stress in both endothelial cells and smooth muscle cells. Pathological stimuli-induced smooth muscle cell proliferation, vascular remodeling, and arterial stiffness can be ameliorated by resveratrol as well. In addition, resveratrol also modulates immune cell function, inhibition of immune cell infiltration into the vascular wall, and improves the function of perivascular adipose tissue. All…

0301 basic medicineendotheliumEndotheliumAdipose tissueBlood PressureReviewresveratrol030204 cardiovascular system & hematologyResveratrolsirtuin 1AntioxidantsMuscle Smooth VascularCatalysisvascular functionNitric oxidelcsh:ChemistryInorganic Chemistry03 medical and health scienceschemistry.chemical_compound0302 clinical medicinecardiovascular diseaseEnosmedicineAnimalsHumansPhysical and Theoretical ChemistryReceptorlcsh:QH301-705.5Molecular BiologyAntihypertensive AgentsSpectroscopybiologySirtuin 1Cell growthChemistryOrganic Chemistryfood and beveragesGeneral Medicinebiology.organism_classificationComputer Science ApplicationsCell biology030104 developmental biologymedicine.anatomical_structurelcsh:Biology (General)lcsh:QD1-999biology.proteinEndothelium Vascularendothelial nitic oxide synthaseInternational Journal of Molecular Sciences
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Dysregulation of C-X-C motif ligand 10 during aging and association with cognitive performance

2017

International audience; Chronic low-grade inflammation during aging (inflammaging) is associated with cognitive decline and neurodegeneration; however, the mechanisms underlying inflammaging are unclear. We studied a population (n = 361) of healthy young and old adults from the MyoAge cohort. Peripheral levels of C-X-C motif chemokine ligand 10 (CXCL10) was found to be higher in older adults, compared with young, and negatively associated with working memory performance. This coincided with an age-related reduction in blood DNA methylation at specific CpGs within the CXCL10 gene promoter. In vitro analysis supported the role of DNA methylation in regulating CXCL10 transcription. A polymorph…

0301 basic medicinegamma interferon inducible protein 10genomic DNAAlzheimerin tautiEpigenesis GeneticCohort StudiesCXCL10 geneCognitionsingle nucleotide polymorphismcognitive defectCognitive declineAged 80 and overCerebral Cortexeducation.field_of_studyprefrontal cortexDNA methylationGeneral NeuroscienceadultNeurodegenerationneurodegenerationta3141U937 CellsMethylationta3142Alzheimer's diseasecohort analysisDNA-metylaatioagedfemalepriority journalepigenetiikkaDNA methylationAlzheimer's diseaseAlzheimer diseasetranscription regulationAlzheimer’s diseasekognitiiviset taidotmedicine.medical_specialty[SDV.MHEP.AHA] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]in vitro studyAdolescentheredityPopulationBiologyArticleworking memoryYoung Adult03 medical and health sciencesCognitive agingpromoter regionmaleMemoryInternal medicineJournal Articlemedicine[SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]HumansCXCL10controlled studyEpigeneticshumanbrain levelNeurodegenerationeducationepigeneticscognitive aginghuman cellagingdisease associationmedicine.diseasemajor clinical studyInflammagingChemokine CXCL10gamma interferon inducible protein 10; genomic DNA adult; age; aged; aging; Alzheimer disease; Article; brain level; cognitive defect; cohort analysis; controlled study; CpG island; CXCL10 gene; disease association; DNA methylation; epigenetics; female; heredity; human; human cell; in vitro study; inflammation; major clinical study; male; prefrontal cortex; priority journal; promoter region; single nucleotide polymorphism; transcription regulation; working memory; Alzheimer's disease; Cognitive aging; DNA methylation; Epigenetics; Inflammaging; Neurodegeneration030104 developmental biologyEndocrinologyikääntyminenageinflammationNerve DegenerationCpG islandinflammagingNeurology (clinical)Geriatrics and GerontologyHeLa CellsDevelopmental BiologyNeurobiology of Aging
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Histidine tracts in human transcription factors: insight into metal ion coordination ability

2017

Consecutive histidine repeats are chosen both by nature and by molecular biologists due to their high affinity towards metal ions. Screening of the human genome showed that transcription factors are extremely rich in His tracts. In this work, we examine two of such His-rich regions from forkhead box and MAFA proteins—MB3 (contains 18 His) and MB6 (with 21 His residues), focusing on the affinity and binding modes of Cu2+ and Zn2+ towards the two His-rich regions. In the case of Zn2+ species, the availability of imidazole nitrogen donors enhances metal complex stability. Interestingly, an opposite tendency is observed for Cu2+ complexes at above physiological pH, in which amide nitrogens part…

0301 basic medicineinorganic chemicalsMaf Transcription Factors LargeStereochemistryMetal ions in aqueous solutionPeptideNerve Tissue Proteins010402 general chemistry01 natural sciencesBiochemistryInorganic ChemistryMetal03 medical and health scienceschemistry.chemical_compoundCoordination ComplexesAmideImidazoleHomeostasisHumansHistidineAmino Acid SequenceTranscription factorHistidineLigand bindingchemistry.chemical_classificationOriginal PaperMass spectrometryForkhead Transcription FactorsHydrogen-Ion ConcentrationPeptide Fragments0104 chemical sciencesZinc030104 developmental biologyBinding affinitychemistryvisual_artPeptidevisual_art.visual_art_mediumThermodynamicsHuman genomeCopperProtein BindingJournal of Biological Inorganic Chemistry
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Proteolytic Enzymes Clustered in Specialized Plasma-Membrane Domains Drive Endothelial Cells’ Migration

2016

In vitro cultured endothelial cells forming a continuous monolayer establish stable cell-cell contacts and acquire a "resting" phenotype; on the other hand, when growing in sparse conditions these cells acquire a migratory phenotype and invade the empty area of the culture. Culturing cells in different conditions, we compared expression and clustering of proteolytic enzymes in cells having migratory versus stationary behavior. In order to observe resting and migrating cells in the same microscopic field, a continuous cell monolayer was wounded. Increased expression of proteolytic enzymes was evident in cell membranes of migrating cells especially at sprouting sites and in shed membrane vesi…

0301 basic medicinekalininsepraseCell Membranesbeta1 integrinCelllcsh:MedicineurokinaseBiochemistryEpitheliumCell membrane0302 clinical medicineAnimal CellsMedicine and Health Sciencesdipeptidyl peptidase IVlcsh:ScienceMultidisciplinarybiologyVesicleProteolytic enzymesCell migrationProteasesEnzymesCell biologyLaboratory EquipmentCell Motilitymedicine.anatomical_structureBiochemistry030220 oncology & carcinogenesisEngineering and TechnologyBiological Culturesmatrix metalloproteinase 14Cellular Structures and OrganellesCellular TypesAnatomyResearch ArticleEquipmentCell MigrationResearch and Analysis MethodsGelatin MediaCell Linegelatinase B03 medical and health sciencescollagen type 4fibronectinmedicineHumansVesiclescollagen type 1gelatinase Alcsh:RCell MembraneBiology and Life SciencesEndothelial CellsProteinsMembrane ProteinsEpithelial CellsCell BiologyCulture MediaFibronectinBiological Tissue030104 developmental biologyMembrane proteinCell cultureProteolysisMicroscopy Electron ScanningEnzymologybiology.proteinlcsh:QCollagensDevelopmental BiologyPLOS ONE
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