Search results for "Symporter"

showing 10 items of 42 documents

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

2014

International audience; Epileptic encephalopathy (EE) refers to a clinically and genetically heterogeneous group of severe disorders characterized by seizures, abnormal interictal electro-encephalogram, psychomotor delay, and/or cognitive deterioration. We ascertained two multiplex families (including one consanguineous family) consistent with an autosomal-recessive inheritance pattern of EE. All seven affected individuals developed subclinical seizures as early as the first day of life, severe epileptic disease, and profound developmental delay with no facial dysmorphism. Given the similarity in clinical presentation in the two families, we hypothesized that the observed phenotype was due …

Male[SDV]Life Sciences [q-bio]Genes Recessive[SDV.GEN] Life Sciences [q-bio]/GeneticsBiologymedicine.disease_causeCompound heterozygosity03 medical and health sciencesEpilepsy0302 clinical medicineSeizures[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyReportmedicineGeneticsRecessiveHumansIctalGenetics(clinical)[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Genetics (clinical)Exome sequencing030304 developmental biologySubclinical infectionGenetics0303 health sciencesMutation[SDV.GEN]Life Sciences [q-bio]/GeneticsBrain Diseases[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology[ SDV ] Life Sciences [q-bio]SymportersGenetic heterogeneityCitrate transportmedicine.disease3. Good healthPedigree[SDV] Life Sciences [q-bio]Genes[ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Mutation[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Female[ SDV.GEN ] Life Sciences [q-bio]/Genetics030217 neurology & neurosurgery[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyThe American Journal of Human Genetics
researchProduct

CA125-Guided Diuretic Treatment Versus Usual Care in Patients With Acute Heart Failure and Renal Dysfunction

2020

BACKGROUND: The optimal diuretic treatment strategy for patients with acute heart failure and renal dysfunction remains unclear. Plasma carbohydrate antigen 125 (CA125) is a surrogate of fluid overload and a potentially valuable tool for guiding decongestion therapy. The aim of this study was to determine if a CA125-guided diuretic strategy is superior to usual care in terms of short-term renal function in patients with acute heart failure and renal dysfunction at presentation. METHODS: This multicenter, open-label study randomized 160 patients with acute heart failure and renal dysfunction into 2 groups (1:1). Loop diuretics doses were established according to CA125 levels in the CA125-gui…

Maleendocrine system diseasesPREDICTIONmedicine.medical_treatmentUrine030204 cardiovascular system & hematologyKidney Function TestsCONGESTIONBiomarker guided-therapy0302 clinical medicineSodium Potassium Chloride Symporter InhibitorsFurosemideNatriuretic peptideMedicineRenal Insufficiency030212 general & internal medicinePrecision MedicineANTIGEN CARBOHYDRATE 125Aged 80 and overFurosemideGeneral MedicineDiuretic treatmentEUROPEAN-SOCIETYClinical trialFemaleTRIALmedicine.drugmedicine.medical_specialtyRenal failureSTRATEGIESmedicine.drug_classUrologyRenal function03 medical and health sciencesHumansIn patientAgedHeart FailureSERUM CREATININENATRIURETIC PEPTIDEbusiness.industryMORTALITYMembrane ProteinsAcute heart failuremedicine.diseaseClinical trialCarbohydrate antigen 125CA-125 AntigenHeart failureDiuretic treatmentDiureticbusinessCARDIORENAL SYNDROME
researchProduct

Expression of Na+-d-glucose cotransporter SGLT2 in rodents is kidney-specific and exhibits sex and species differences

2012

With a novel antibody against the rat Na+-d-glucose cotransporter SGLT2 (rSGLT2-Ab), which does not cross-react with rSGLT1 or rSGLT3, the ∼75-kDa rSGLT2 protein was localized to the brush-border membrane (BBM) of the renal proximal tubule S1 and S2 segments (S1 > S2) with female-dominant expression in adult rats, whereas rSglt2 mRNA expression was similar in both sexes. Castration of adult males increased the abundance of rSGLT2 protein; this increase was further enhanced by estradiol and prevented by testosterone treatment. In the renal BBM vesicles, the rSGLT1-independent uptake of [14C]-α-methyl-d-glucopyranoside was similar in females and males, suggesting functional contribution of…

Malemedicine.medical_specialtyPhysiologyImmunocytochemistryCarbohydrate metabolismBiologyKidneyMicechemistry.chemical_compoundimmunocytochemistry; mRNA expression; Na+-D-glucose cotransport;Sex FactorsSodium-Glucose Transporter 2D-GlucoseInternal medicinemedicineAnimalsTestosteroneCastrationRNA MessengerRats WistarKidneyMembrane Transporters Ion Channels and PumpsEstradiolMicrovilliSymportersGalactoseKidney metabolismCell BiologyRatsMice Inbred C57BLGlucosemedicine.anatomical_structureEndocrinologychemistryGalactoseSymporterFemaleCotransporterAmerican Journal of Physiology-Cell Physiology
researchProduct

Metabolic and Cardiovascular Effects of Switching Thiazides to Amlodipine in Hypertensive Patients With and Without Type 2 Diabetes (the Diuretics an…

2020

Background: Different studies have indicated that thiazide diuretics can increase the risk of developing type 2 diabetes (T2D). Therefore, in this study, we investigated whether switching from hydrochlorothiazide (HCTZ) to amlodipine resulted in ameliorating different cardiovascular and metabolic measures in hypertensive patients with or without T2D. Methods: This study [Diuretics and Diabetes Control (DiaDiC)] was a 6-week, single-blind, single-center randomized controlled trial. The first 20 normal glucose-tolerant, 20 prediabetic, and 20 T2D consecutive patients were randomized to continue the previous antihypertensive treatment with HCTZ (12.5-25 mg/day) or to switch from HCTZ to amlodi…

Malemedicine.medical_specialtyTime FactorsEndocrinology Diabetes and MetabolismSodium Chloride Symporter InhibitorsdiureticBlood PressureType 2 diabetesSettore MED/13 - EndocrinologiaInternal medicineInternal MedicineMedicineHumansSingle-Blind MethodAmlodipineSettore MED/49 - Scienze Tecniche Dietetiche ApplicateThiazideAntihypertensive AgentsAgedtreatmentbusiness.industryDrug Substitutioncardiovascularfood and beveragesMiddle Agedmedicine.diseaseCalcium Channel BlockersDiabetes controlHydrochlorothiazideTreatment OutcomeDiabetes Mellitus Type 2ItalyHypertensionCardiologyFemaletype 2 diabetesAmlodipinethiazidebusinessEnergy MetabolismmetabolismBiomarkersmedicine.drugMetabolic syndrome and related disorders
researchProduct

Differential mortality association of loop diuretic dosage according to blood urea nitrogen and carbohydrate antigen 125 following a hospitalization …

2012

Recent observations in chronic stable heart failure suggest that high-dose loop diuretics (HDLDs) have detrimental prognostic effects in patients with high blood urea nitrogen (BUN), but recent findings have also indicated that diure- tics may improve renal function. Carbohydrate antigen 125 (CA125) has been shown to be a surrogate of systemic congestion. We sought to explore whether BUN and CA125 modulate the mortality risk associated with HDLDs following a hospitalization for acute heart failure (AHF). Methods and results We analysed 1389 consecutive patients discharged for AHF. CA125 and BUN were measured at a mean of 72+12 h after admission. HDLDs (≥120 mg/day in furosemide equivalent d…

Malemedicine.medical_specialtymedicine.drug_classRenal functionGastroenterologyRisk AssessmentLoop diureticsBlood Urea NitrogenCohort StudiesSodium Potassium Chloride Symporter InhibitorsFurosemideInternal medicinemedicineHumansProspective StudiesMortalityProspective cohort studyBlood urea nitrogenAgedAged 80 and overHeart Failurebusiness.industryHazard ratioFurosemideAcute heart failureLoop diureticMiddle Agedmedicine.diseaseConfidence intervalfemale genital diseases and pregnancy complicationsHospitalizationBlood urea nitrogenEndocrinologyCarbohydrate antigen 125Heart failureCA-125 AntigenAcute DiseaseFemaleCardiology and Cardiovascular MedicinebusinessBiomarkersmedicine.drugFollow-Up StudiesEuropean journal of heart failure
researchProduct

Antigen carbohydrate 125 and creatinine on admission for prediction of renal function response following loop diuretic administration in acute heart …

2014

The use of loop diuretics in acute heart failure (AHF) is largely empirical and has been associated with renal function impairment by reducing renal perfusion but also renal improvement by decreasing renal venous congestion. Antigen carbohydrate 125 (CA125) has emerged as a proxy for fluid overload. We sought to evaluate whether the early changes in creatinine (ΔCr) induced by intravenous furosemide doses (ivFD) differ among clinical groups defined by overload status (CA125) and creatinine on admission (Cr).We included 526 consecutive patients admitted for AHF. All patients received intravenous furosemide for the first 48 hours. CA125 and Cr were dichotomized at 35 U/ml and 1.4 mg/dl, respe…

Malemedicine.medical_specialtymedicine.drug_classUrologyRenal functionKidneyCohort Studieschemistry.chemical_compoundPatient AdmissionAntigenSodium Potassium Chloride Symporter InhibitorsPredictive Value of TestsInternal medicinemedicineHumansIn patientInfusions IntravenousAgedAged 80 and overHeart FailureCreatininebusiness.industryFurosemideCarbohydrateLoop diureticMiddle Agedmedicine.diseaseEndocrinologychemistryHeart failureCA-125 AntigenCreatinineAcute DiseaseFemaleCardiology and Cardiovascular MedicinebusinessBiomarkersmedicine.drugFollow-Up StudiesInternational journal of cardiology
researchProduct

A Na+-coupled C4-dicarboxylate transporter (Asuc_0304) and aerobic growth of Actinobacillus succinogenes on C4-dicarboxylates

2014

Actinobacillus succinogenes, which is known to produce large amounts of succinate during fermentation of hexoses, was able to grow on C4-dicarboxylates such as fumarate under aerobic and anaerobic conditions. Anaerobic growth on fumarate was stimulated by glycerol and the major product was succinate, indicating the involvement of fumarate respiration similar to succinate production from glucose. The aerobic growth on C4-dicarboxylates and the transport proteins involved were studied. Fumarate was oxidized to acetate. The genome of A. succinogenes encodes six proteins with similarity to secondary C4-dicarboxylate transporters, including transporters of the Dcu (C4-dicarboxylate uptake), Dcu…

Molecular Sequence Datamedicine.disease_causeModels BiologicalMicrobiologyDivalentBacterial ProteinsFumaratesmedicineDicarboxylic AcidsAmino Acid SequenceAnaerobiosisCarbon RadioisotopesEscherichia coliPhylogenyDicarboxylic Acid Transporterschemistry.chemical_classificationbiologySodiumBiological TransportSuccinatesActinobacillusGene Expression Regulation BacterialFumarate reductasebiology.organism_classificationAerobiosisTransport proteinActinobacillus succinogenesGlucoseBiochemistrychemistrySymporterFermentationCotransporterSequence AlignmentMicrobiology
researchProduct

Impact of exogenous lactate on survival and radioresponse of carcinoma cells in vitro

2009

Tumour lactate levels have been shown to correlate with high radioresistance in tumour models in vivo. The study aimed to evaluate the impact of pathophysiological extracellular lactate concentrations and acidosis on the in vitro survival and radioresponse of various cancer cell lines.HCT-116, HT29 (colorectal) and FaDu (HNSCC) carcinoma cells were studied. Lactate release rates were determined, and expression of the monocarboxylate transporter MCT1 and its cofactor CD147 were monitored by immunofluorescence and flow cytometry. Colony formation was compared for cells exposed to 20 mM exogenous lactate, acidosis (pH 6.4) and lactate plus acidosis relative to control and dose response curves …

Monocarboxylic Acid TransportersCell SurvivalIn Vitro TechniquesRadiation ToleranceFlow cytometryAndrologyCell Line TumorRadioresistanceExtracellularmedicineHumansRadiology Nuclear Medicine and imagingLactic AcidClonogenic assayTumor Stem Cell AssayAcidosisMonocarboxylate transporterSymportersRadiological and Ultrasound Technologybiologymedicine.diagnostic_testCarcinomaHydrogen-Ion ConcentrationHCT116 CellsDose–response relationshipGlucoseBiochemistryCancer cellBasiginbiology.proteinmedicine.symptomAcidosisHT29 CellsInternational Journal of Radiation Biology
researchProduct

Inhibition of tumor lactate oxidation: consequences for the tumor microenvironment.

2011

Abstract Background and purpose Tumor cells are recognized as being highly glycolytic. However, recently it was suggested that lactate produced in hypoxic tumor areas may be taken up by the monocarboxylate transporter MCT1 and oxidized in well-oxygenated tumor parts. Furthermore, it was shown that inhibition of lactate oxidation using the MCT1 inhibitor α-cyano-hydroxycinnamate (CHC) can radio-sensitize tumors possibly by forcing a switch from lactate oxidization to glycolysis in oxygenated cells, which in turn improves tumor oxygenation and indirectly kills radio-resistant hypoxic tumor cells from glucose starvation. Material and methods To provide direct evidence for the existence of a ta…

Monocarboxylic Acid TransportersPasteur effectMice NudeUterine Cervical NeoplasmsImmunoenzyme Techniques03 medical and health sciencesMice0302 clinical medicineLactate oxidationFluorodeoxyglucose F18Cell Line TumorTumor MicroenvironmentPimonidazoleAnimalsRadiology Nuclear Medicine and imaging030304 developmental biologyMonocarboxylate transporter0303 health sciencesTumor microenvironmentbiologySymportersChemistryGlucose analogHematologyTumor OxygenationWarburg effectCell Hypoxia3. Good healthGlucoseOncologyCinnamatesHead and Neck NeoplasmsNitroimidazoles030220 oncology & carcinogenesisImmunologyLuminescent Measurementsbiology.proteinCancer researchCarcinoma Squamous CellLactatesLinear ModelsAutoradiographyFemaleGlycolysisOxidation-ReductionRadiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology
researchProduct

Effects of ouabain on human bronchial muscle in vitro

2003

The effects of ouabain, an inhibitor of the plasmalemmal Na(+)/K(+)-ATPase activity, were examined in human isolated bronchus. Ouabain produced concentration-dependent contraction with -logEC(50)=7.16+/-0.11 and maximal effect of 67+/-4% of the response to acetylcholine (1 mM). Ouabain (10 microM)-induced contraction was epithelium-independent and was not depressed by inhibitors of cyclooxygenase and lipoxygenase, antagonists of muscarinic, histamine H(1)-receptors and alpha-adrenoceptors, or neuronal Na(+) channel blockade. The inhibition of ouabain contraction in tissues bathed in K(+)-free medium, and the inhibition by ouabain of the K(+)-induced relaxation confirm that the contractile a…

NitroprussideCromakalimmedicine.medical_specialtySodium-Hydrogen ExchangersTime FactorsInositol PhosphatesMuscle RelaxationVasodilator AgentsBronchiIn Vitro TechniquesOuabainMembrane Potentialschemistry.chemical_compoundSodium Potassium Chloride Symporter InhibitorsInternal medicineMuscarinic acetylcholine receptormedicineHumansVasoconstrictor AgentsNa+/K+-ATPaseOuabainInositol phosphateProtein Kinase CPharmacologychemistry.chemical_classificationForskolinColforsinIsoproterenolMuscle SmoothGeneral MedicineCalcium Channel BlockersAcetylcholineAmilorideEndocrinologychemistryCalciumSodium-Potassium-Exchanging ATPaseHistamineAcetylcholineHistaminemedicine.drugNaunyn-Schmiedeberg's Archives of Pharmacology
researchProduct