Search results for "type II"

showing 10 items of 607 documents

Genome-Wide Profiling and Phylogenetic Analysis of the SWEET Sugar Transporter Gene Family in Walnut and Their Lack of Responsiveness to Xanthomonas …

2020

Following photosynthesis, sucrose is translocated to sink organs, where it provides the primary source of carbon and energy to sustain plant growth and development. Sugar transporters from the SWEET (sugar will eventually be exported transporter) family are rate-limiting factors that mediate sucrose transport across concentration gradients, sustain yields, and participate in reproductive development, plant senescence, stress responses, as well as support plant&ndash

0106 biological sciences0301 basic medicinephylogeny01 natural scienceslcsh:Chemistrywalnut blightTAL effectorType III Secretion Systems2.1 Biological and endogenous factorsAetiologylcsh:QH301-705.5SpectroscopyPlant Proteins<i>Xanthomonas</i>GeneticsGenomebiologyfood and beveragesSWEET sugar transportersGeneral MedicineSucrose transportComputer Science ApplicationsInfectious DiseasesMultigene Familygene familyJuglansXanthomonasPlant DevelopmentJuglansCatalysisInorganic Chemistry03 medical and health sciencesTAL effectorXanthomonasGeneticsGene familySugar transporterPhysical and Theoretical ChemistryMolecular BiologyGenePlant DiseasesChemical PhysicsOrganic ChemistryfungiMembrane Transport ProteinsBiological TransportXanthomonas arboricolaPlantbiology.organism_classification030104 developmental biologylcsh:Biology (General)lcsh:QD1-999Gene Expression Regulationgene expressionOther Biological SciencesOther Chemical Sciences010606 plant biology & botanyInternational Journal of Molecular Sciences
researchProduct

New Therapeutic Implications of Endothelial Nitric Oxide Synthase (eNOS) Function/Dysfunction in Cardiovascular Disease

2019

The Global Burden of Disease Study identified cardiovascular risk factors as leading causes of global deaths and life years lost. Endothelial dysfunction represents a pathomechanism that is associated with most of these risk factors and stressors, and represents an early (subclinical) marker/predictor of atherosclerosis. Oxidative stress is a trigger of endothelial dysfunction and it is a hall-mark of cardiovascular diseases and of the risk factors/stressors that are responsible for their initiation. Endothelial function is largely based on endothelial nitric oxide synthase (eNOS) function and activity. Likewise, oxidative stress can lead to the loss of eNOS activity or even &ldquo;uncoupli…

0301 basic medicineAdipose tissueReview030204 cardiovascular system & hematologyPharmacologymedicine.disease_causeendothelial dysfunctionEpigenesis Geneticlcsh:Chemistry0302 clinical medicineEnoscardiovascular diseaseeNOS uncouplingoxidative stressEndothelial dysfunctionlcsh:QH301-705.5Spectroscopyenvironmental stressorsbiologyGeneral MedicineComputer Science Applicationsmedicine.anatomical_structureCardiovascular Diseasesmedicine.symptomOxidation-ReductionCell signalingEndotheliumNitric Oxide Synthase Type IIIInflammationModels BiologicalCatalysisInorganic Chemistry03 medical and health scienceslife style/behavioral health risk factorsmedicineAnimalsHumansPhysical and Theoretical ChemistryMolecular Biologybusiness.industryOrganic Chemistrymedicine.diseasebiology.organism_classification030104 developmental biologylcsh:Biology (General)lcsh:QD1-999Socioeconomic FactorsinflammationSoluble guanylyl cyclasebusinessOxidative stressInternational Journal of Molecular Sciences
researchProduct

Postprandial Changes in Chemokines Related to Early Atherosclerotic Processes in Familial Hypercholesterolemic Subjects: A Preliminary Study.

2015

Familial hypercholesterolemia (FH) is associated with higher levels of inflammatory mediators such as chemokines, which contribute to an increased risk of premature atherosclerosis in these patients. We studied the response of chemokines related to early atherosclerotic processes during an oral unsaturated fat load test (OFLT) in patients with heterozygous FH and compared this response to normolipidemic and normoglycemic subjects.Blood samples were taken from 12 FH patients and 20 healthy controls with a similar age, gender distribution, and body mass index. Plasma chemokine levels were determined in both groups in a fasting state and at 2, 4, 6, and 8 h after an OFLT using human cytokine m…

0301 basic medicineAdultMaleChemokinemedicine.medical_specialtyAdolescentmedicine.medical_treatmentFamilial hypercholesterolemia030204 cardiovascular system & hematologyBody Mass IndexHyperlipoproteinemia Type II03 medical and health scienceschemistry.chemical_compoundYoung Adult0302 clinical medicineDietary Fats UnsaturatedInternal medicineMedicineHumansHyperlipoproteinemia Type IIAgedbiologybusiness.industryUnsaturated fatCase-control studyGeneral MedicineFastingMiddle Agedmedicine.diseaseAtherosclerosisPostprandial PeriodHealthy Volunteers030104 developmental biologyEndocrinologyCytokinePostprandialchemistryCase-Control Studiesbiology.proteinFemaleChemokinesbusinessBody mass indexArchives of medical research
researchProduct

The JAK2 pathway is activated in idiopathic pulmonary fibrosis

2018

Background: Idiopathic pulmonary fibrosis (IPF) is the most rapidly progressive and fatal fibrotic disorder, with no curative therapies. The signal transducer and activator of transcription 3 (STAT3) protein is activated in lung fibroblasts and alveolar type II cells (ATII), thereby contributing to lung fibrosis in IPF. Although activation of Janus kinase 2 (JAK2) has been implicated in proliferative disorders, its role in IPF is unknown. The aim of this study was to analyze JAK2 activation in IPF, and to determine whether JAK2/STAT3 inhibition is a potential therapeutic strategy for this disease. Methods and results: JAK2/p-JAK2 and STAT3/pSTAT3 expression was evaluated using quantitative …

0301 basic medicineAdultMaleSTAT3 Transcription FactorIdiopathic pulmonary fibrosisEpithelial cellsLung fibroblastsFibroblast migrationPulmonary fibrosisSTAT303 medical and health sciencesIdiopathic pulmonary fibrosisFibrosishemic and lymphatic diseasesMedicineAnimalsHumansFibroblastAgedlcsh:RC705-779A549 cellCèl·lules epitelialsLungbiologybusiness.industryResearchFibrosi pulmonarlcsh:Diseases of the respiratory systemTransforming growth factor betaFibroblastsJanus Kinase 2Middle Agedrespiratory systemmedicine.diseaseTriterpenesRatsrespiratory tract diseasesEnzyme Activation030104 developmental biologymedicine.anatomical_structureJAK2A549 CellsAlveolar type II epithelial cellsCancer researchbiology.proteinFemalebusinessMyofibroblastSignal Transduction
researchProduct

Treatment for hereditary angioedema with normal C1-INH and specific mutations in the F12 gene (HAE-FXII).

2016

Hereditary angioedema with normal C1 esterase inhibitor and mutations in the F12 gene (HAE-FXII) is associated with skin swellings, abdominal pain attacks, and the risk of asphyxiation due to upper airway obstruction. It occurs nearly exclusively in women. We report our experience treating HAE-FXII with discontinuation of potential trigger factors and drug therapies. The study included 72 patients with HAE-FXII. Potential triggers included estrogen-containing oral contraceptives (eOC), hormonal replacement therapy, or angiotensin-converting enzyme inhibitors. Drug treatment comprised plasma-derived C1 inhibitor (pdC1-INH) for acute swelling attacks and progestins, tranexamic acid, and danaz…

0301 basic medicineAdultMalemedicine.medical_specialtyExacerbationAdolescentImmunologyAngiotensin-Converting Enzyme InhibitorsGastroenterologyChemopreventionC1-inhibitorHereditary Angioedema Type III03 medical and health sciencesYoung Adult0302 clinical medicineRisk FactorsInternal medicinemedicineImmunology and AllergyHumansHereditary Angioedema Type IIIChildAgedDanazolbiologybusiness.industryEstrogensMiddle Agedmedicine.diseaseSurgeryDiscontinuation030104 developmental biologyTreatment Outcome030228 respiratory systemQuinaprilHereditary angioedemaFactor XIIMutationbiology.proteinDisease ProgressionFemalebusinessComplement C1 Inhibitor ProteinTranexamic acidBiomarkersmedicine.drugAllergy
researchProduct

Analysis of cold activation of the contact system in hereditary angioedema with normal C1 inhibitor.

2021

Hereditary angioedema (HAE) attacks are caused by excessive activation of the contact system. Understanding how the contact system is activated in HAE, especially in patients with normal C1 inhibitor (HAEnCI), is essential to effectively treat this disease. Contact system activation involves the cleavage of several proteins including Factor XII (FXII), high molecular weight kininogen (HK), prekallikrein, sgp120 (ITIH4) and C1 inhibitor (C1-INH) before the subsequent generation of bradykinin that mediates HAE. In this study, we evaluated the fragmentation and enzymatic activity of contact system proteins in HAEnCI plasma samples before and after contact system activation induced by incubatio…

0301 basic medicineAdultMalemedicine.medical_specialtyHigh-molecular-weight kininogenImmunologyProteinase Inhibitory Proteins SecretoryBradykininBradykininC1-inhibitorHereditary Angioedema Type III03 medical and health scienceschemistry.chemical_compoundYoung Adult0302 clinical medicineInternal medicinemedicineHumansFragmentation (cell biology)Molecular BiologyBlood CoagulationFactor XIIbiologyKininogensPrekallikreinPrekallikreinEstrogensPlasminogenKallikreinMiddle Agedmedicine.diseaseCold Temperature030104 developmental biologyEndocrinologychemistryHereditary angioedemaFactor XIIbiology.proteinFemaleKallikreinsComplement C1 Inhibitor Protein030215 immunologyMolecular immunology
researchProduct

Characterization of NO-Induced Nitrosative Status in Human Placenta from Pregnant Women with Gestational Diabetes Mellitus

2017

Dysregulation of NO production is implicated in pregnancy-related diseases, including gestational diabetes mellitus (GDM). The role of NO and its placental targets in GDM pregnancies has yet to be determined. S-Nitrosylation is the NO-derived posttranslational protein modification that can modulate biological functions by forming NO-derived complexes with longer half-life, termed S-nitrosothiol (SNO). Our aim was to examine the presence of endogenous S-nitrosylated proteins in cysteine residues in relation to antioxidant defense, apoptosis, and cellular signal transduction in placental tissue from control (n=8) and GDM (n=8) pregnancies. S-Nitrosylation was measured using the biotin-switch …

0301 basic medicineAgingendocrine system diseasesPlacentaNitric Oxide Synthase Type IIExpressionApoptosisBiochemistryBody Mass Index0302 clinical medicineNitric-oxidePregnancyMitogen-Activated Protein Kinase 1Mitogen-Activated Protein Kinase 3biologyCaspase 3lcsh:CytologyNitrosylationP38General MedicineCatalaseCaspase 9TrophoblastsGestational diabetesmedicine.anatomical_structureCatalase030220 oncology & carcinogenesisFemaleResearch ArticleAdultmedicine.medical_specialtyArticle SubjectNitrosationNitric OxidePathophysiology03 medical and health sciencesErk1/2Internal medicinePlacentamedicineHumanslcsh:QH573-671Protein kinase BPregnancyFetusNitratesS-NitrosothiolsCesarean SectionCell BiologyPeroxiredoxinsmedicine.diseaseProtein s-nitrosylationDiabetes Gestational030104 developmental biologyEndocrinologyOxidative stressCase-Control Studiesbiology.proteinPeroxiredoxinProto-Oncogene Proteins c-aktOxidative Medicine and Cellular Longevity
researchProduct

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

2017

Abstract Background Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study). Methods We recruited 1592 individuals with a clinical diagnosis of definite or probable FH according to the Dutch Lipid Clinic Network criteria. We performed a parallel sequencing of the major…

0301 basic medicineApolipoprotein ECandidate geneSettore MED/09 - Medicina InternaDatabases FactualApolipoprotein BDNA Mutational AnalysisFamilial hypercholesterolemia030204 cardiovascular system & hematologyCompound heterozygosityPCSK90302 clinical medicineRisk FactorsReceptorsGeneticsHomozygoteAutosomal dominant traitPathogenic variantsGeneral MedicinePrognosisAPOB; Familial hypercholesterolemia; LDLR; PCSK9; Pathogenic variantsCholesterolPhenotypeItalyAutosomal Recessive HypercholesterolemiaApolipoprotein B-100lipids (amino acids peptides and proteins)Proprotein Convertase 9APOBCardiology and Cardiovascular MedicinePreliminary DataGenetic MarkersFamilial hypercholesterolemiaLDLRPCSK9APOBPathogenic variantsHeterozygoteFamilial hypercholesterolemiaBiologyPathogenic variantLDLHyperlipoproteinemia Type II03 medical and health sciencesDatabasesmedicineInternal MedicineHumansAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Internal Medicine; Cardiology and Cardiovascular MedicineGenetic Predisposition to DiseaseFactualPCSK9Settore MED/13 - ENDOCRINOLOGIAAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Cardiology and Cardiovascular Medicine; Internal Medicinemedicine.diseaseAtherosclerosis030104 developmental biologyLDLRReceptors LDLMutationbiology.proteinAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Apolipoprotein B-100; Atherosclerosis; Cholesterol; DNA Mutational Analysis; Databases Factual; Genetic Markers; Genetic Predisposition to Disease; Heterozygote; Homozygote; Humans; Hyperlipoproteinemia Type II; Italy; Phenotype; Preliminary Data; Prognosis; Proprotein Convertase 9; Receptors LDL; Risk Factors; Mutation; Internal Medicine; Cardiology and Cardiovascular Medicine
researchProduct

New 1,4-Dihydropyridines Down-regulate Nitric Oxide in Animals with Streptozotocin-induced Diabetes Mellitus and Protect Deoxyribonucleic Acid agains…

2015

Diabetes mellitus (DM) and its complications cause numerous health and social problems throughout the world. Pathogenic actions of nitric oxide (NO) are responsible to a large extent for development of complications of DM. Search for compounds regulating NO production in patients with DM is thus important for the development of pharmacological drugs. Dihydropyridines (1,4-DHPs) are prospective compounds from this point of view. The goals of this study were to study the in vivo effects of new DHPs on NO and reactive nitrogen and oxygen species production in a streptozotocin (STZ)-induced model of DM in rats and to study their ability to protect DNA against nocive action of peroxynitrite. STZ…

0301 basic medicineBlood GlucoseMaleDihydropyridinesNitric Oxide Synthase Type IIIXanthine DehydrogenaseDown-RegulationNitric Oxide Synthase Type IIDHPS030204 cardiovascular system & hematologyPharmacologyToxicologyEndothelial NOSKidneyNitric OxideProtective AgentsNitric oxideDiabetes Mellitus Experimental03 medical and health scienceschemistry.chemical_compound0302 clinical medicinePeroxynitrous AcidmedicineAnimalsRats WistarReactive nitrogen speciesPharmacologybiologyGeneral MedicineDNAStreptozotocinReactive Nitrogen SpeciesRatsNitric oxide synthasePeroxynitrous acid030104 developmental biologyBiochemistrychemistryLiverbiology.proteinReactive Oxygen SpeciesPeroxynitritemedicine.drugBasicclinical pharmacologytoxicology
researchProduct

Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element

2020

OBJECTIVE Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying disorder with diverse neuropsychiatric expression. Five genes were reported as PFBC causative when carrying pathogenic variants. Haploinsufficiency of SLC20A2, which encodes an inorganic phosphate importer, is a major cause of autosomal-dominant PFBC. However, PFBC remains genetically unexplained in a proportion of patients, suggesting the existence of additional genes or cryptic mutations. We analyzed exome sequencing data of 71 unrelated, genetically unexplained PFBC patients with the aim to detect copy number variations that may disrupt the expression of core PFBC-causing genes. METHODS Afte…

0301 basic medicineBrain DiseasesDNA Copy Number VariationsSodium-Phosphate Cotransporter Proteins Type IIIHEK 293 cellsBrainHaploinsufficiencyBiologyMolecular biologyReverse transcriptase03 medical and health sciencesHEK293 Cells030104 developmental biology0302 clinical medicineNeurologyMutationHumansNeurology (clinical)Copy-number variationAlleleHaploinsufficiencyEnhancerGene030217 neurology & neurosurgeryExome sequencingMovement Disorders
researchProduct