0000000001308644

AUTHOR

Jun Li

showing 40 related works from this author

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

2013

The author manuscript of this article is open access and is freely available online at PubMed Central

medicine.medical_specialtyKeratoconusCorneal Pachymetrygenetic structuresthickness; keratoconus; geneGlaucomaOcular hypertensionGenome-wide association studyBiologyReal-Time Polymerase Chain ReactionKeratoconusWhite PeopleArticleCentral corneal thicknessCorneaAsian PeopleOphthalmologyCorneaOdds RatioGeneticsmedicineHumansCorneal pachymetrymedicine.diagnostic_testForkhead Box Protein O1Forkhead Transcription FactorsGlaucomaOdds ratioMicroarray Analysismedicine.diseaseConfidence intervaleye diseasesFibronectinsmedicine.anatomical_structureGenetic Locisense organsGenome-Wide Association Study
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Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

2014

Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 x 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 x 10(-11) for rs2472493 near ABCA1 and P = 6.39 x 10(-11) for rs8176693…

MaleIntraocular pressuregenetic structuresGlaucomaGenome-wide association studyCohort Studies0302 clinical medicinePolymorphism (computer science)Risk FactorsPOPULATIONGeneticsAged 80 and overRISK0303 health scienceseducation.field_of_studyCOMMON VARIANTSASSOCIATIONMiddle AgedFemaleTRIALChromosomes Human Pair 3OPEN-ANGLE GLAUCOMAChromosomes Human Pair 9Glaucoma Open-AngleATP Binding Cassette Transporter 1AdultEXPRESSIONmedicine.medical_specialtyOpen angle glaucomaGenotypePopulationChromosome 9BiologyPolymorphism Single NucleotideArticleABO Blood-Group System03 medical and health sciencesYoung AdultMeta-Analysis as TopicOphthalmologyGeneticsmedicineHumansGenetic Predisposition to DiseaseeducationCENTRAL CORNEAL THICKNESSIntraocular PressureMETAANALYSIS030304 developmental biologyGenetic associationAgedChromosomes Human Pair 11Glaucomamedicine.diseaseeye diseasesFibronectinsREDUCTIONGenetic Loci030221 ophthalmology & optometrysense organsGenome-Wide Association StudyNature Genetics
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High Plasma Glutamate and a Low Glutamine-to-Glutamate Ratio Are Associated with Increased Risk of Heart Failure but Not Atrial Fibrillation in the P…

2020

[Background] Although the association between glutamate and glutamine in relation to cardiometabolic disorders has been evaluated, the role of these metabolites in the development of atrial fibrillation (AF) and heart failure (HF) remains unknown.

Blood GlucoseMalePREDIMEDmedicine.medical_specialtyGlutaminePopulationGlutamic AcidMedicine (miscellaneous)Heart failureDiet MediterraneanBody Mass IndexRisk FactorsOriginal Research ArticlesInternal medicinemedicineHumanseducationAgededucation.field_of_studyNutrition and Dieteticsbusiness.industryIncidence (epidemiology)Glutamate receptorAtrial fibrillationMiddle Agedmedicine.diseaseLipidsPredimedAtrial fibrillationGlutamineEndocrinologyQuartileCase-Control StudiesHeart failureFemaleGlutamatebusiness
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Plasma Acylcarnitines and Risk of Type 2 Diabetes in a Mediterranean Population at High Cardiovascular Risk

2019

[Context] The potential associations between acylcarnitine profiles and incidence of type 2 diabetes (T2D) and whether acylcarnitines can be used to improve diabetes prediction remain unclear.

Malemedicine.medical_specialtyEndocrinology Diabetes and MetabolismClinical BiochemistryPopulation030209 endocrinology & metabolismContext (language use)Type 2 diabetes030204 cardiovascular system & hematologyDiet MediterraneanBiochemistry03 medical and health sciences0302 clinical medicineEndocrinologyRisk FactorsCarnitineDiabetes mellitusInternal medicineHumansMetabolomicsMedicineProspective StudieseducationClinical Research ArticlesAgedAged 80 and overeducation.field_of_studybusiness.industryProportional hazards modelIncidenceBiochemistry (medical)Hazard ratioCase-control studyfood and beveragesMiddle AgedPrognosismedicine.diseaseEndocrinologyDiabetes Mellitus Type 2ROC CurveCardiovascular DiseasesCase-Control StudiesRelative riskFemalebusinessBiomarkersFollow-Up StudiesThe Journal of Clinical Endocrinology & Metabolism
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Fluidity of liposome membranes doped with metalloporphyrins: An ESR study

2008

Changes in membrane fluidity of porphyrin-doped liposomes have been investigated to assess the kinetics of the fluidization process. Metal complexes of tert-butylphenyl mesosubstituted porphyrin, containing ions of Mg, Mn, Fe, Co, Ni and Cu, were used as dopants. Liposomes were obtained by sonication of hen egg yolk lecithin (EYL). Electron paramagnetic resonance (ESR) was applied using two spin probes, TEMPO (2,2,6,6-tetramethylpiperidine- 1-oxyl) and 16-DOXYL-stearic acid [2-ethyl-2-(15-methoxy-15-oxopentadecyl)-4,4- dimethyl-3-oxazolidinyloxyl], localized at different sites within the membrane to determine the spectroscopic parameters: partition (F) and rotation correlation time (τ), rel…

Models MolecularMembrane FluidityMetalloporphyrinsSonicationInorganic chemistryKineticsMolecular ConformationGeneral Biochemistry Genetics and Molecular Biologylaw.inventionEYL LiposomesMetalCyclic N-Oxideschemistry.chemical_compoundlawMembrane fluidityElectron paramagnetic resonanceESRLiposomeChemistryElectron Spin Resonance SpectroscopyPorphyrinKineticsMembranevisual_artLiposomesvisual_art.visual_art_mediumSpin Labels
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Creation and Annihilation of Nonradiative Recombination Centers in Polycrystalline Metal Halide Perovskites by Alternating Electric Field and Light

2019

Metal halide perovskites are promising optoelectronic materials. Their electronic properties however are rather unstable which is often assigned to ion migration. Ion migration can be readily influenced by an electric field (EF). Here, the response of photoluminescence (PL) of individual MAPbX3 (MA = CH3NH3, X = I, Br) sub-micrometer-sized polycrystals to EF is studied. Alternating EF with frequency higher than 10 Hz is found to reversibly quench PL. It is proposed that an alternating EF when applied together with light increases ion migration. This leads to a shift in the equilibrium between creation and annihilation of defects toward higher concentration of nonradiative recombination cent…

Materials sciencePhotoluminescenceField (physics)Halide02 engineering and technologyDielectric010402 general chemistry021001 nanoscience & nanotechnology01 natural sciencesMolecular physicsAtomic and Molecular Physics and Optics0104 chemical sciencesElectronic Optical and Magnetic MaterialsAmplitudeElectric fieldGrain boundary0210 nano-technologyPerovskite (structure)Advanced Optical Materials
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Metabolomics of the tryptophan-kynurenine degradation pathway and risk of atrial fibrillation and heart failure: potential modification effect of Med…

2021

BACKGROUND: The tryptophan–kynurenine pathway is linked to inflammation. We hypothesize that metabolites implicated in this pathway may be associated with the risk of heart failure (HF) or atrial fibrillation (AF) in a population at high risk of cardiovascular disease. OBJECTIVES: We aimed to prospectively analyze the associations of kynurenine-related metabolites with the risk of HF and AF and to analyze a potential effect modification by the randomized interventions of the PREDIMED (Prevención con Dieta Mediterránea) trial with Mediterranean diet (MedDiet). METHODS: Two case–control studies nested within the PREDIMED trial were designed. We selected 324 incident HF cases and 502 incident …

0301 basic medicineMalemedicine.medical_specialtyMediterranean dietPopulationMedicine (miscellaneous)Disease030204 cardiovascular system & hematologyDiet MediterraneanGastroenterologyCorrections03 medical and health scienceschemistry.chemical_compound0302 clinical medicineKynurenic acidRisk FactorsInternal medicineAtrial FibrillationmedicineHumansMetabolomicsProspective StudieseducationKynurenineAgedAged 80 and overHeart Failureeducation.field_of_studyNutrition and Dieteticsbusiness.industryTryptophanAtrial fibrillationMiddle Agedmedicine.diseaseOriginal Research Communications030104 developmental biologyLogistic ModelschemistryHeart failureCase-Control StudiesFemalebusinessKynurenineQuinolinic acidThe American journal of clinical nutrition
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Urea Cycle Metabolites and Atrial Fibrillation or Heart Failure Risk: Two Case-Control Studies in the PREDIMED Trial

2021

OBJECTIVES: To prospectively analyze the associations between urea cycle metabolites and incident atrial fibrillation (AF) or heart failure (HF), and to evaluate the effect of a Mediterranean diet (MD) intervention on such associations. METHODS: We designed two nested case-control studies within the PREDIMED trial, a randomized controlled trial aimed to evaluate the effect of two MD interventions, supplemented with either extra virgin olive oil (EVOO) or nuts, on cardiovascular disease (CVD). Fasting blood samples were collected at baseline and urea cycle metabolites (arginine, citrulline, and ornithine) and methylarginines (asymmetric dimethylarginine/symmetric dimethylarginine ratio (ADMA…

Aging and Chronic DiseaseNutrition and DieteticsArginineMediterranean dietDiet therapybusiness.industryMedicine (miscellaneous)Atrial fibrillationPharmacologyOrnithinemedicine.diseasechemistry.chemical_compoundchemistryHeart failureUrea cyclemedicineCitrullinebusinessFood ScienceCurrent Developments in Nutrition
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Choline Metabolism and Risk of Atrial Fibrillation and Heart Failure in the PREDIMED Study

2020

Abstract Background Few studies have examined the associations of trimethylamine-N-oxide (TMAO) and its precursors (choline, betaine, dimethylglycine, and L-carnitine) with the risk of atrial fibrillation (AF) and heart failure (HF). This study sought to investigate these associations. Methods Prospective associations of these metabolites with incident AF and HF were examined among participants at high cardiovascular risk in the PREDIMED study (PREvención con DIeta MEDiterránea) after follow-up for about 10 years. Two nested case-control studies were conducted, including 509 AF incident cases matched to 618 controls and 326 HF incident cases matched to 426 controls. Plasma levels of TMAO an…

Malemedicine.medical_specialtyClinical BiochemistryTrimethylamine N-oxide030204 cardiovascular system & hematologyGastroenterologyCholineDimethylglycineMethylamines03 medical and health scienceschemistry.chemical_compound0302 clinical medicineBetaineRisk FactorsCarnitineInternal medicineAtrial FibrillationmedicineHumansCholineProspective Studies030212 general & internal medicineAgedHeart Failurebusiness.industryBiochemistry (medical)SarcosineAtrial fibrillationArticlesOdds ratiomedicine.diseaseBetainechemistryQuartileCase-Control StudiesHeart failureFemalebusinessClinical Chemistry
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Degradation of 4-nitrophenol (4-NP) using Fe–TiO2 as a heterogeneous photo-Fenton catalyst

2010

Photocatalytic degradation of 4-nitrophenol was investigated using Fe-doped (1, 3, 5 and 8 wt.% Fe) TiO(2) catalysts under UV light irradiation in aqueous dispersions in the presence of H(2)O(2). Photocatalysts with the lowest Fe content (1%) showed a considerably better behavior with respect to the unloaded TiO(2) and the catalysts with higher Fe contents. Photocatalytic degradation was studied under different conditions such as amounts of 1% Fe-TiO(2) catalyst, H(2)O(2) dose and initial pH of 4-NP solution. The results indicated that about 67.53% total organic carbon of a solution containing 20 mg L(-1) 4-NP was removed at pH 6.17 by using 4.9 mM of H(2)O(2) and 0.4 g L(-1) of the catalys…

TitaniumPhotolysisEnvironmental EngineeringUltraviolet RaysIronHealth Toxicology and MutagenesisInorganic chemistry4-NitrophenolHydrogen PeroxidePollutionCatalysisHeterogeneous photocatalysis 4-Nitrophenol Fe–TiO2 photocatalystsCatalysisTitanium oxideNitrophenolschemistry.chemical_compoundchemistryTitanium dioxidePhotocatalysisEnvironmental ChemistryDegradation (geology)Hydrogen peroxideWaste Management and DisposalChemical decompositionJournal of Hazardous Materials
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Plasma Metabolomic Profiles of Glycemic Index, Glycemic Load, and Carbohydrate Quality Index in the PREDIMED Study

2020

Background The quality of carbohydrate consumed, assessed by the glycemic index (GI), glycemic load (GL), or carbohydrate quality index (CQI), affects the postprandial glycemic and insulinemic responses, which have been implicated in the etiology of several chronic diseases. However, it is unclear whether plasma metabolites involved in different biological pathways could provide functional insights into the role of carbohydrate quality indices in health. Objectives We aimed to identify plasma metabolomic profiles associated with dietary GI, GL, and CQI. Methods The present study is a cross-sectional analysis of 1833 participants with overweight/obesity (mean age = 67 y) from 2 case-cohort s…

Malemedicine.medical_specialtyPopulationMedicine (miscellaneous)Overweightchemistry.chemical_compoundInternal medicineGlycemic loadmedicineDietary CarbohydratesHumansMetabolomicsGenomics Proteomics and MetabolomicseducationGlycemicAgededucation.field_of_studyNutrition and Dieteticsbusiness.industryGlycemic LoadMiddle Agedmedicine.diseaseObesityDietGlycemic indexEndocrinologyPostprandialCross-Sectional StudieschemistryGlycemic IndexFemalemedicine.symptomCotininebusinessBiomarkers
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Bipartite regulation of different components of the MHC class I antigen-processing machinery during dendritic cell maturation

2001

Dendritic cells (DC) are professional antigen-presenting cells (APC) which proceed from immature to a mature stage during their final differentiation. Immature DC are highly effective in terms of antigen uptake and processing, whereas mature DC become potent immunostimulatory cells. Until now, the expression profiles of the major components of the MHC class I antigen-processing machinery (APM) during DC development have not been well characterized. In this study, the mRNA and protein expression levels of the IFN-gamma inducible proteasome subunits, of the proteasome activators PA28, and of key components required for peptide transport and MHC class I-peptide complex assembly have been evalu…

Proteasome Endopeptidase ComplexCD74ImmunologyAntigen presentationLipopolysaccharide ReceptorsDown-RegulationImmunoglobulinsMuscle ProteinsAntiportersMonocytesMultienzyme ComplexesMHC class IHumansImmunology and AllergyATP Binding Cassette Transporter Subfamily B Member 2Antigen PresentationMHC class IIbiologyAntigen processingMHC class I antigenHistocompatibility Antigens Class IMembrane Transport ProteinsProteinsCell DifferentiationDendritic CellsGeneral MedicineTransporter associated with antigen processingMHC restrictionMolecular biologyUp-RegulationCell biologyCysteine EndopeptidasesProtein TransportProtein Biosynthesisbiology.proteinATP-Binding Cassette TransportersPeptidesInternational Immunology
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Walnut Consumption, Plasma Metabolomics, and Risk of Type 2 Diabetes and Cardiovascular Disease

2021

BACKGROUND: Walnut consumption is associated with lower risk of type 2 diabetes (T2D) and cardiovascular disease (CVD). However, it is unknown whether plasma metabolites related to walnut consumption are also associated with lower risk of cardiometabolic diseases. OBJECTIVES: The study aimed to identify plasma metabolites associated with walnut consumption and evaluate the prospective associations between the identified profile and risk of T2D and CVD. METHODS: The discovery population included 1833 participants at high cardiovascular risk from the PREvención con DIeta MEDiterránea (PREDIMED) study with available metabolomics data at baseline. The study population included 57% women (baseli…

MetabolitePopulationMedicine (miscellaneous)PhysiologyJuglansType 2 diabetesLower riskchemistry.chemical_compoundMetabolomicsRisk FactorsCarnitinemedicineHumansMetabolomicsNutsGenomics Proteomics and MetabolomicsAmino Acidseducationeducation.field_of_studyNutrition and Dieteticsbusiness.industryProportional hazards modelIncidence (epidemiology)medicine.diseaseLipidsDiabetes Mellitus Type 2chemistryCardiovascular DiseasesPurinesPopulation studybusinessBiomarkersThe Journal of Nutrition
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Efficient Degradation of 4-Nitrophenol by Using Functionalized Porphyrin TiO2 Photocatalysts Under Visible Irradiation

2007

Abstract The novel porphyrins 5,10,15,20-tetra-[4-(3-phenoxy)-propoxy]phenyl porphyrin, H2Pp(a) and 5,10,15,20-tetra-[2-(3-phenoxy)-propoxy]phenyl porphyrin, H2Pp(b) and their corresponding copper(II) complexes CuPp(a), CuPp(b) were synthesized and characterized by using various spectroscopic techniques. The photocatalytic activity of polycrystalline TiO2 samples impregnated with H2Pp(a), H2Pp(b), CuPp(a) and CuPp(b) as sensitizers have been investigated by carrying out the photo-degradation of 4-nitrophenol (4-NP) as a probe reaction in aqueous suspension and under visible light. The maximum photocatalytic activity was obtained using TiO2 loaded with a monolayer of the copper porphyrin CuP…

Process Chemistry and Technologychemistry.chemical_element4-NitrophenolPhotochemistryPorphyrinCopperCatalysischemistry.chemical_compoundchemistryTitanium dioxideMonolayerPhotocatalysisPhotodegradationGeneral Environmental ScienceVisible spectrum
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Glycolysis Metabolites and Risk of Atrial Fibrillation and Heart Failure in the PREDIMED Trial

2021

The increased prevalence of atrial fibrillation (AF) and heart failure (HF) highlights the need to better understand the mechanisms underlying these cardiovascular diseases (CVDs). In the present study, we aimed to evaluate the association between glycolysis-related metabolites and the risk of AF and HF in a Mediterranean population at high risk of CVD. We used two case-control studies nested within the PREDIMED trial. A total of 512 incident AF cases matched to 734 controls, and 334 incident HF cases matched to 508 controls, were included. Plasma metabolites were quantified by using hydrophilic interaction liquid chromatography coupled with high-resolution negative ion mode MS detection. C…

medicine.medical_specialtyEndocrinology Diabetes and MetabolismPopulationheart failureHeart failure030204 cardiovascular system & hematologyBiochemistryMicrobiologyPathogenesis03 medical and health sciences0302 clinical medicineInternal medicinemedicineGlycolysisatrial fibrillation030212 general & internal medicineeducationMolecular Biologyeducation.field_of_studybusiness.industryBrief ReportAtrial fibrillationPREDIMED studyglycolysismedicine.diseasePredimedAtrial fibrillationQR1-502Increased riskHeart failureCardiologyConditional logistic regressionbusinessGlycolysis
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Comparative Sequence Analysis ofMycobacterium lepraeand the New Leprosy-CausingMycobacterium lepromatosis

2009

ABSTRACTMycobacterium lepromatosisis a newly discovered leprosy-causing organism. Preliminary phylogenetic analysis of its 16S rRNA gene and a few other gene segments revealed significant divergence fromMycobacterium leprae, a well-known cause of leprosy, that justifies the status ofM. lepromatosisas a new species. In this study we analyzed the sequences of 20 genes and pseudogenes (22,814 nucleotides). Overall, the level of matching of these sequences withM. lepraesequences was 90.9%, which substantiated the species-level difference; the levels of matching for the 16S rRNA genes and 14 protein-encoding genes were 98.0% and 93.1%, respectively, but the level of matching for five pseudogenes…

Nonsynonymous substitutionSequence analysisPseudogeneMolecular Sequence Datamedicine.disease_causePolymerase Chain ReactionMicrobiologyMycobacteriumBacterial ProteinsPhylogeneticsLeprosyRNA Ribosomal 16SmedicineMolecular BiologyMycobacterium lepraePhylogenyGeneticsMycobacterium lepromatosisBase CompositionLikelihood FunctionsbiologyPhylogenetic treeComputational BiologySequence Analysis DNAbiology.organism_classificationMycobacterium lepraePseudogenesMycobacteriumJournal of Bacteriology
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The Mediterranean diet, plasma metabolome, and cardiovascular disease risk.

2020

Abstract Aims To investigate whether metabolic signature composed of multiple plasma metabolites can be used to characterize adherence and metabolic response to the Mediterranean diet and whether such a metabolic signature is associated with cardiovascular disease (CVD) risk. Methods and results Our primary study cohort included 1859 participants from the Spanish PREDIMED trial, and validation cohorts included 6868 participants from the US Nurses’ Health Studies I and II, and Health Professionals Follow-up Study (NHS/HPFS). Adherence to the Mediterranean diet was assessed using a validated Mediterranean Diet Adherence Screener (MEDAS), and plasma metabolome was profiled by liquid chromatogr…

medicine.medical_specialtyMediterranean dietbusiness.industryIncidence (epidemiology)Hazard ratioDiseaseOdds ratio030204 cardiovascular system & hematologyDiet Mediterranean03 medical and health sciences0302 clinical medicineCardiovascular DiseasesRisk FactorsInternal medicineCohortMendelian randomizationMetabolomemedicineMetabolomeHumans030212 general & internal medicineCardiology and Cardiovascular MedicinebusinessFollow-Up StudiesGenome-Wide Association StudyEuropean heart journal
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Anaphylatoxin-like molecules generated during complement activation induce a dramatic enhancement of particle uptake in rainbow trout phagocytes.

2004

Here we have identified a serum fraction containing approximately 8-kDa molecules with an unexpected capacity to greatly enhance particle uptake in trout head kidney leukocytes (HKLs). This approximately 8-kDa particle-uptake enhancing fraction (PUEF-8) was purified from complement-activated serum by gel filtration chromatography. Mass spectrometric analysis and reactivity of anti-trout C3-1 and C4 antibodies, indicated the presence of C3a, C4a and C5a molecules in PUEF-8. Using a newly developed flow cytometric assay that measures the capacity of cells to ingest fluorescent beads, we showed that PUEF-8 induced a striking enhancement (344+/-50% higher than the PBS control value) in the numb…

AnaphylatoxinsTime FactorsEvolutionPhagocytosisImmunologySize-exclusion chromatographyComplementAnaphylatoxinPhagocytosisCell MovementLeukocytesAnimalsAnaphylatoxinPhagocytesPhagocytosibiologyChemotaxisC4AChemotaxisComplement System Proteinsbiology.organism_classificationFlow CytometryMolecular biologyComplement systemTroutRainbow troutOncorhynchus mykissImmunologybiology.proteinAntibodyDevelopmental Biology
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Wireless Caching Aided 5G Networks

2018

Article SubjectComputer Networks and CommunicationsComputer science5G-tekniikka0102 computer and information sciences02 engineering and technology01 natural scienceslcsh:Technologylcsh:Telecommunicationlcsh:TK5101-67200202 electrical engineering electronic engineering information engineeringWirelessElectrical and Electronic Engineeringwireless cachingta213business.industrylcsh:T020206 networking & telecommunications010201 computation theory & mathematicsnetworksbusiness5G5Glangattomat verkotInformation SystemsComputer networkWireless Communications and Mobile Computing
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Dairy consumption, plasma metabolites, and risk of type 2 diabetes.

2021

Background Epidemiologic studies have reported a modest inverse association between dairy consumption and the risk of type 2 diabetes (T2D). Whether plasma metabolite profiles associated with dairy consumption reflect this relationship remains unknown. Objectives We aimed to identify the plasma metabolites associated with total and specific dairy consumption, and to evaluate the association between the identified multi-metabolite profiles and T2D. Methods The discovery population included 1833 participants from the Prevencion con Dieta Mediterranea (PREDIMED) trial. The confirmatory cohorts included 1522 PREDIMED participants at year 1 of the trial and 4932 participants from the Nurses' Hea…

0301 basic medicineMalemedicine.medical_specialtyMetabolitePopulationMedicine (miscellaneous)Type 2 diabetes030204 cardiovascular system & hematologycheeseCohort Studiesyogurt03 medical and health scienceschemistry.chemical_compound0302 clinical medicineRisk FactorsInternal medicineMedicineAnimalsHumansProspective StudieseducationProspective cohort studyDieta mediterraneaAgedmilkprospective cohort studyeducation.field_of_studyNutrition and DieteticsHealth professionalsbusiness.industryEditorialsFeeding BehaviorMiddle Agedmedicine.diseasemetabolomicsPredimed030104 developmental biologyMilkchemistryDiabetes Mellitus Type 2CohortdairyFemaletype 2 diabetesDairy ProductsbusinessThe American journal of clinical nutrition
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Preparation of Graphene Nanoribbons (GNRs) as an Electronic Component with the Multi-walled Carbon Nanotubes (MWCNTs)

2015

Abstract Carbon nanotubes (CNTs) have a well-defined nanostructure to exhibit high electrical conductivity and chemical stability, and have been used as an advanced material to make electrodes of super-capacitor. Graphene nanoribbons (GNRs), as manufactured by unzipping the CNTs, have more flexible adjustable electrical properties than CNTs, and are regarded an even more promising material for super-capacitor electrodes. This paper presented a series of attempts to prepare GNRs by chemically treating multi-walled carbon nanotubes (MWCNTs); this is, an Oxidation-Reduction method was tried to make GNRs by unzipping MWCNTs longitudinally. Efforts were made in various trials to find conditions …

NanostructureMaterials scienceScanning electron microscopeNanotechnologyMulti-walled carbon nanotubesGraphene nanoribbons (GNRs)General MedicineCarbon nanotubeElectrochemical performanceCharacterization (materials science)law.inventionTransmission electron microscopylawElectrodeCyclic voltammetryPreparation methodEngineering(all)Graphene nanoribbonsProcedia Engineering
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Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis

2017

Genome-wide association studies (GWASs) have identified loci for erythrocyte traits in primarily European ancestry populations. We conducted GWAS meta-analyses of six erythrocyte traits in 71,638 individuals from European, East Asian, and African ancestries using a Bayesian approach to account for heterogeneity in allelic effects and variation in the structure of linkage disequilibrium between ethnicities. We identified seven loci for erythrocyte traits including a locus (RBPMS/GTF2E2) associated with mean corpuscular hemoglobin and mean corpuscular volume. Statistical fine-mapping at this locus pointed to RBPMS at this locus and excluded nearby GTF2E2. Using zebrafish morpholino to evaluat…

0301 basic medicineMaleLinkage disequilibriumAsiaErythrocytesGenome-wide association studyLocus (genetics)RBPMS030105 genetics & heredityBiologyEasternGenomeMedical and Health SciencesArticleLinkage Disequilibrium03 medical and health sciencesGeneticsEthnicityAnimalsHumansErythropoiesisAlleleGenetics (clinical)Loss functionAllelesZebrafishGenetic associationGeneticsGenetics & HeredityAsia EasternHuman GenomeRacial GroupsRNA-Binding ProteinsBioBank Japan ProjectBayes TheoremHematologyBiological SciencesR13. Good healthEurope030104 developmental biologyAfricaFemaleGenome-Wide Association Study
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ETS-1 Regulates Twist-1 Expression In Non-Small Cell Lung Cancer (NSCLC) Progression And Metastasis

2011

Oncologymedicine.medical_specialtyInternal medicinemedicinenon-small cell lung cancer (NSCLC)TwistBiologymedicine.diseaseMetastasisC17. INFLAMMATION AND MICROENVIRONMENTAL FACTORS THAT PROMOTE LUNG CANCER DEVELOPMENT
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Glycolysis/gluconeogenesis- and tricarboxylic acid cycle–related metabolites, Mediterranean diet, and type 2 diabetes

2020

Background: Glycolysis/gluconeogenesis and tricarboxylic acid (TCA) cycle metabolites have been associated with type 2 diabetes (T2D). However, the associations of these metabolites with T2D incidence and the potential effect of dietary interventions remain unclear. Objectives: We aimed to evaluate the association of baseline and 1-y changes in glycolysis/gluconeogenesis and TCA cycle metabolites with insulin resistance and T2D incidence, and the potential modifying effect of Mediterranean diet (MedDiet) interventions. Methods: We included 251 incident T2D cases and 638 noncases in a nested case-cohort study within the PREDIMED Study during median follow-up of 3.8 y. Participants were alloc…

0301 basic medicineMalemedicine.medical_specialtyMediterranean dietPopulationCitric Acid CycleMedicine (miscellaneous)030209 endocrinology & metabolismType 2 diabetesDiet MediterraneanCohort Studies03 medical and health sciences0302 clinical medicineInsulin resistanceInternal medicineMetabolomicsMedicineHumansGlycolysiseducationAgedAged 80 and overeducation.field_of_studyNutrition and Dieteticsbusiness.industryGlycolysis metabolitesGluconeogenesisInsulin resistanceType 2 diabetesTricarboxylic acid cycle metabolitesMiddle Agedmedicine.diseaseCitric acid cycleOriginal Research Communications030104 developmental biologyEndocrinologyGluconeogenesisDiabetes Mellitus Type 2Relative riskCase-Control StudiesFemalebusinessGlycolysis
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Lysine pathway metabolites and the risk of type 2 diabetes and cardiovascular disease in the PREDIMED study: results from two case-cohort studies

2019

[Background]: The pandemic of cardiovascular disease (CVD) and type 2 diabetes (T2D) requires the identification of new predictor biomarkers. Biomarkers potentially modifiable with lifestyle changes deserve a special interest. Our aims were to analyze: (a) The associations of lysine, 2-aminoadipic acid (2-AAA) or pipecolic acid with the risk of T2D or CVD in the PREDIMED trial; (b) the effect of the dietary intervention on 1-year changes in these metabolites, and (c) whether the Mediterranean diet (MedDiet) interventions can modify the effects of these metabolites on CVD or T2D risk. [Methods]: Two unstratified case-cohort studies nested within the PREDIMED trial were used. For CVD analyses…

Malelcsh:Diseases of the circulatory (Cardiovascular) systemTime FactorsMediterranean dietEndocrinology Diabetes and MetabolismhumanosDiseaseType 2 diabetes030204 cardiovascular system & hematologyDiet Mediterraneanchemistry.chemical_compound0302 clinical medicineRisk Factorsestudios prospectivosevaluación de riesgosMetabolites030212 general & internal medicineProspective Studiesmediana edadOriginal InvestigationPipecolic acidRandomized Controlled Trials as TopicAged 80 and overancianodietaácidos pipecólicosensayos clínicos controlados aleatorizados como asuntoresultado del tratamientoIncidenceType 2 diabetesMiddle AgedCardiovascular disease3. Good healthPrimary PreventionTreatment OutcomeCardiovascular DiseasesPipecolic AcidsFemaleCardiology and Cardiovascular Medicineconducta de reducción del riesgoCohort studymedicine.medical_specialtyenfermedades cardiovascularesácido 2-aminoadípicoRisk Assessmentincidencia03 medical and health sciencesfactores de tiempoInternal medicineDiabetes mellitusmedicineDiabetes Mellitusfactores de riesgoHumansAngiologyAgedProportional hazards modelbusiness.industryLysinemedicine.diseaseDietlisinaDietary interventionchemistryDiabetes Mellitus Type 2lcsh:RC666-701business2-Aminoadipic AcidRisk Reduction BehaviorBiomarkers
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A scalable three-dimensional porous λ-MnO2/rGO/Ca-alginate composite electroactive film with potential-responsive ion-pumping effect for selective re…

2021

Abstract A scalable three-dimensional (3D) porous composite electroactive film consisting of λ-MnO2, reduced graphene oxide (rGO) and calcium alginate (Ca-alg) was successfully fabricated and employed for the selective extraction of Li+ ions with low concentration via an electrochemically switched ion exchange (ESIX) technology. The Li+ ion adsorption capacity of the obtained λ-MnO2/rGO/Ca-alg composite electroactive film reached as high as 32.7 mg g−1 and more than 90% of its equilibrium adsorption capacity was achieved in 1 h. The λ-MnO2/rGO/Ca-alg composite electroactive film displayed evident selectivity towards Li+ ions. The separation factors for Li+/Na+ and Li+/Mg2+ reached 1040.57 a…

Materials scienceCalcium alginateIon exchangeGrapheneComposite numberOxideFiltration and Separation02 engineering and technology021001 nanoscience & nanotechnologyElectrochemistryAnalytical Chemistrylaw.inventionIonchemistry.chemical_compoundAdsorption020401 chemical engineeringchemistryChemical engineeringlaw0204 chemical engineering0210 nano-technologySeparation and Purification Technology
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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

2016

Seuls les 100 premiers auteurs dont les auteurs INRA ont été entrés dans la notice. La liste complète des auteurs et de leurs affiliations est accessible sur la publication.; International audience; In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues…

[SDV]Life Sciences [q-bio]autophagosomeReview Articleddc:616.07stressstreLC3MESH: AnimalsSettore MED/49 - Scienze Tecniche Dietetiche ApplicateSettore BIO/06 - Anatomia Comparata E Citologiachaperone-mediated autophagyComputingMilieux_MISCELLANEOUSSettore BIO/11Pharmacology. TherapySettore BIO/13standards [Biological Assay]autolysosomeMESH: Autophagy*/physiologylysosomemethods [Biological Assay]Biological AssaySettore BIO/17 - ISTOLOGIAErratumHumanBiochemistry & Molecular BiologySettore BIO/06physiology [Autophagy]Chaperonemediated autophagy[SDV.BC]Life Sciences [q-bio]/Cellular BiologyNOautophagy guidelines molecular biology ultrastructureautolysosome; autophagosome; chaperone-mediated autophagy; flux; LC3; lysosome; macroautophagy; phagophore; stress; vacuoleMESH: Biological Assay/methodsMESH: Computer Simulationddc:570Autolysosome Autophagosome Chaperonemediated autophagy Flux LC3 Lysosome Macroautophagy Phagophore Stress VacuoleAutophagyAnimalsHumansComputer SimulationSettore BIO/10ddc:612BiologyphagophoreMESH: HumansvacuoleAnimalLC3; autolysosome; autophagosome; chaperone-mediated autophagy; flux; lysosome; macroautophagy; phagophore; stress; vacuole; Animals; Biological Assay; Computer Simulation; Humans; Autophagy0601 Biochemistry And Cell BiologyfluxmacroautophagyMESH: Biological Assay/standards*Human medicineLC3; autolysosome; autophagosome; chaperone-mediated autophagy; flux; lysosome; macroautophagy; phagophore; stress; vacuole
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Optimal Buffer Resource Allocation in Wireless Caching Networks

2019

Wireless caching systems have been exhaustively investigated in recent years. Due to limited buffer capacity, and unbalanced arrival and service rates, the backlogs may exist in the caching node and even cause buffer overflow. In this paper, we first investigate the relationship among backlogs, buffer capacity, data arrival rate and service rate, utilizing the martingale theory which is flexible in handling any arrival and service processes. Then given a target buffer overflow probability, the minimal required buffer portion is determined. If the devoted buffer capacity can fulfill all serving users' minimal buffer requirements, an optimization problem is constructed with the objective to m…

Scheme (programming language)Service (systems architecture)Hardware_MEMORYSTRUCTURESOptimization problembusiness.industryComputer scienceNode (networking)020302 automobile design & engineering020206 networking & telecommunications02 engineering and technologyoptimal buffer resource allocationwireless caching networksBuffer (optical fiber)langaton tiedonsiirto0203 mechanical engineeringoptimointi0202 electrical engineering electronic engineering information engineeringResource allocation (computer)Wirelessbusinesscomputerlangattomat verkotBuffer overflowComputer networkcomputer.programming_language
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Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

2013

AM Vicente - Cross-Disorder Group of the Psychiatric Genomics Consortium Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases and controls in schizophrenia, bipolar disorder, major depressive disorder, autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). We apply univariate and bivariate methods for the estimation of genetic variation within and covariation between disorders. SNPs explained 17-29% of the variance in …

Netherlands Twin Register (NTR)MedizinInheritance PatternsSocial SciencesAUTISM SPECTRUM DISORDERSnosologyheritabilityCOMMON SNPS0302 clinical medicineCrohn DiseaseSCHIZOPHRENIAChildPsychiatric geneticsGenetics & HeredityMAJOR DEPRESSIVE DISORDERRISK0303 health sciencesATTENTION-DEFICIT/HYPERACTIVITY DISORDER120 000 Neuronal CoherenceMental DisordersVariantsBIPOLAR DISORDERASSOCIATIONGenomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3]Psychiatric DisordersCROHNS-DISEASE3. Good healthSchizophreniagenetic association studyMedical geneticsMajor depressive disorderSNPsAdultmedicine.medical_specialtygenetic etiologymedical geneticsDEFICIT HYPERACTIVITY DISORDERBiologyPolymorphism Single Nucleotidebehavioral disciplines and activitiesArticleGenomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3]HeritabilityGenetic Heterogeneity03 medical and health sciencesPrevalence of mental disordersmental disorders/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_[SDV.BBM] Life Sciences [q-bio]/Biochemistry Molecular BiologyGeneticsmedicineddc:61HumansAttention deficit hyperactivity disorderGenetic Predisposition to Disease[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular BiologyDCN PAC - Perception action and control NCEBP 9 - Mental healthddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersBipolar disorderPsychiatry030304 developmental biologyDepressive Disorder MajorGenome HumanGenetic heterogeneitymedicine.diseaseschizophreniaAttention Deficit Disorder with HyperactivityChild Development Disorders PervasivePerturbações do Desenvolvimento Infantil e Saúde Mental030217 neurology & neurosurgeryGenome-Wide Association Study
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MiasDB: A Database of Molecular Interactions Associated with Alternative Splicing of Human Pre-mRNAs.

2016

Alternative splicing (AS) is pervasive in human multi-exon genes and is a major contributor to expansion of the transcriptome and proteome diversity. The accurate recognition of alternative splice sites is regulated by information contained in networks of protein-protein and protein-RNA interactions. However, the mechanisms leading to splice site selection are not fully understood. Although numerous databases have been built to describe AS, molecular interaction databases associated with AS have only recently emerged. In this study, we present a new database, MiasDB, that provides a description of molecular interactions associated with human AS events. This database covers 938 interactions …

0301 basic medicineGene regulatory networklcsh:MedicineRNA-binding proteinRNA-binding proteinscomputer.software_genreBiochemistryHistonesExonDatabase and Informatics MethodsDatabases GeneticProtein Interaction MappingRNA PrecursorsGene Regulatory NetworksDatabase Searchinglcsh:ScienceMultidisciplinaryDatabaseExonsGenomicsGenomic DatabasesNucleic acidsRNA splicingProteomeSequence AnalysisResearch ArticleSequence DatabasesBiologyResponse ElementsResearch and Analysis MethodsGenome Complexity03 medical and health sciencesGeneticsHumansMolecular Biology TechniquesSequencing TechniquesProtein InteractionsGeneMolecular BiologyInternetlcsh:RAlternative splicingIntronBiology and Life SciencesComputational BiologyProteinsGenome AnalysisIntronsAlternative Splicing030104 developmental biologyBiological DatabasesRNA processingRNAlcsh:QRNA Splice SitesGene expressioncomputerProtein KinasesTranscription FactorsPloS one
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Metabolites related to purine catabolism and risk of type 2 diabetes incidence; modifying effects of the TCF7L2-rs7903146 polymorphism

2019

Studies examining associations between purine metabolites and type 2 diabetes (T2D) are limited. We prospectively examined associations between plasma levels of purine metabolites with T2D risk and the modifying effects of transcription factor-7-like-2 (TCF7L2) rs7903146 polymorphism on these associations. This is a case-cohort design study within the PREDIMED study, with 251 incident T2D cases and a random sample of 694 participants (641 non-cases and 53 overlapping cases) without T2D at baseline (median follow-up: 3.8 years). Metabolites were semi-quantitatively profiled with LC-MS/MS. Cox regression analysis revealed that high plasma allantoin levels, including allantoin-to-uric acid rat…

0301 basic medicinePurineMalePolymorphism (Crystallography)endocrine system diseaseslcsh:MedicineType 2 diabetesDiabetis no-insulinodependentchemistry.chemical_compound0302 clinical medicineBlood plasmaMetabolitesNon-insulin-dependent diabetesProspective Studieslcsh:ScienceMultidisciplinaryDiabetisIncidencePrognosisMetabòlits3. Good healthMetabolomeFemaleTranscription Factor 7-Like 2 Proteinmedicine.drugmedicine.medical_specialtyendocrine systemPolymorphism Single NucleotideArticle03 medical and health sciencesAllantoin:Ciencias de la Salud::Medicina preventiva [Materias Investigacion]Diabetes mellitusInternal medicinemedicineHumansGenetic Predisposition to DiseaseInosineAgedbusiness.industrylcsh:Rnutritional and metabolic diseasesPolimorfisme (Cristal·lografia)Xanthinemedicine.disease030104 developmental biologyEndocrinologychemistryDiabetes Mellitus Type 2PurinesSpainCase-Control Studieslcsh:QbusinessTCF7L2030217 neurology & neurosurgeryBiomarkersFollow-Up Studies
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Novel meso-substituted porphyrins: Synthesis, characterization and photocatalytic activity of their TiO2-based composites

2009

Abstract Two series of novel meso-substituted porphyrins, namely 5,10,15,20-tetra[4-(3-phenoxy)-propoxy]phenyl porphyrin, the structural analogue 5,10,15,20-tetra[2-(3-phenoxy)-propoxy]phenyl porphyrin and their Co(II) Cu(II) and Zn(II) complexes were synthesized. The compounds were characterized using various spectroscopic techniques and their molecular structure was proposed based on density functional theory calculations. The diverse properties of the porphyrin derivatives result from the different stereochemistry of the particular substituents at the meso site on the macrocycle and are controlled also by the coordinated metal. The 1H NMR spectrum of the free-base porphyrin showed a comp…

PorphyrinsMetalloporphyrinsProcess Chemistry and TechnologyGeneral Chemical EngineeringPhotosensitizerDFT calculationsPhotochemistryPorphyrinMetalchemistry.chemical_compoundchemistryvisual_artPhotodegradationPolymer chemistryvisual_art.visual_art_mediumProton NMRPhotocatalysisTiO2MoleculePhotosensitizerDensity functional theoryPhotodegradationporphyrinphotocatalysisDyes and Pigments
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Electrochemically triggered iodide-vacancy BiOI film for selective extraction of iodide ion from aqueous solutions

2021

Abstract The effective extraction and regeneration of radioactive iodide remains an urgent concern for safe nuclear energy utilization. Herein, we developed a novel electrochemically triggered iodide-vacancy BiOI film, which exhibited excellent I− ion extraction capacity of 328.3 mg·g−1. Especially, due to the ion vacancy trap effect, the film showed high selectivity towards I− ions in the existence of a large number of competitive anions. Additionally, the electrochemically switched ion extraction (ESIE) process with this iodide-vacancy BiOI film possessed fast extraction kinetics and high stability. More importantly, the trapped I− ions were easily desorbed from the film without the secon…

chemistry.chemical_classificationAqueous solutionChemistryExtraction (chemistry)KineticsHigh selectivityInorganic chemistryIodideFiltration and Separation02 engineering and technologySettore ING-IND/27 - Chimica Industriale E Tecnologica021001 nanoscience & nanotechnologyIodide ions Iodide-vacancy BiOI film Electrochemically switched ion extraction Selective extraction Radioactive waterAnalytical ChemistryIonIodide ion020401 chemical engineeringVacancy defect0204 chemical engineering0210 nano-technology
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Dioncophyllines C2, D2, and F and related naphthylisoquinoline alkaloids from the Congolese liana Ancistrocladus ileboensis with potent activities ag…

2017

Dioncophylline F (1), the first 5,8'-coupled dioncophyllaceous alkaloid (i.e., lacking an oxygen function at C-6 and possessing an R-configuration at C-3), was isolated from the recently described Congolese liana Ancistrocladus ileboensis. Two further, likewise Dioncophyllaceae-type, alkaloids, the dioncophyllines C2 (2) and D2 (3), were identified, along with the Ancistrocladaceae-type compound ancistrocladisine B (4), which is oxygenated at C-6 and S-configured at C-3. The structures of the new compounds were determined by spectroscopic, chemical, and chiroptical methods. The stereostructure of 1 was further confirmed by total synthesis. As a consequence of the lack of a methyl group orth…

Pharmacologybiology010405 organic chemistryStereochemistryAlkaloidOrganic ChemistryPharmaceutical ScienceTotal synthesisPlasmodium falciparum010402 general chemistrybiology.organism_classification01 natural sciencesLeukemia cell line0104 chemical sciencesAnalytical ChemistryAncistrocladus ileboensischemistry.chemical_compoundComplementary and alternative medicineLianachemistryDrug DiscoveryMolecular MedicineAncistrocladaceaeMethyl group
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Metalloporphyrin intercalation in liposome membranes: ESR study

2010

Liposomes characterized by membranes featuring diverse fluidity (liquid-crystalline and/or gel phase), prepared from egg yolk lecithin (EYL) and dipalmitoylphosphatidylcholine (DPPC), were doped with selected metalloporphyrins and the time-related structural and dynamic changes within the lipid double layer were investigated. Porphyrin complexes of Mg(II), Mn(III), Fe(III), Co(II), Ni(II), Cu(II), Zn(II), and the metal-free base were embedded into the particular liposome systems and tested for 350 h at 24°C using the electron spin resonance (ESR) spin probe technique. 5-DOXYL, 12-DOXYL, and 16-DOXYL stearic acid methyl ester spin labels were applied to explore the interior of the lipid bila…

Models MolecularOriginal PaperLiposomeMolecular StructureMetalloporphyrinsIntercalation (chemistry)Electron Spin Resonance SpectroscopyPorphyrinBiochemistryLipid bilayerSpin probeInorganic Chemistrychemistry.chemical_compoundCrystallographyMembranechemistryElectron spin resonanceDipalmitoylphosphatidylcholineLiposomesDensity functional theory calculationsOrganic chemistrylipids (amino acids peptides and proteins)Lipid bilayer phase behaviorLipid bilayerJBIC Journal of Biological Inorganic Chemistry
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The Photocatalytic Activity of Novel, Substituted Porphyrin/TiO2-Based Composites

2010

Four novel porphyrins, 5-[3-(3-phenoxy)-propoxy]phenyl porphyrin, 5,15-di-[3-(3-phenoxy)-propoxy] phenyl porphyrin, 5,10,15-tri-[3-(3-phenoxy)-propoxy]phenyl porphyrin, 5,10,15,20-tetra-[3-(3-phenoxy)- propoxy]phenyl porphyrin, and their corresponding Cu(II) porphyrins, were synthesized and characterized spectroscopically. The photodegradation of 4-nitrophenol in aq. suspension was used to determine the photocatalytic activity of polycrystalline TiO2 samples which had been impregnated with the Cu(II) porphyrins, as sensitizers. The photocatalytic activity of the composite depends mainly on the amount of sensitizer on the TiO2 surface rather than the nature of the substituted porphyrins.

chemistry.chemical_compoundchemistryProcess Chemistry and TechnologyGeneral Chemical EngineeringPolymer chemistryTitanium dioxidePhotocatalysisPhotosensitizerCrystallitePhotodegradationPhotochemistryPorphyrinPorphyrins Cu(II)-porphyrins Substitutions Photosensitizers Photodegradation Titanium Dioxide
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Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

2015

G.B. and S.N. acknowledge funding support for this work from the National Institute for Health Research (NIHR) Mental Health Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London. P.H.L. is supported by US National Institute of Mental Health (NIMH) grant K99MH101367. Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from over 60,000 participants from the Psychiatric Genomics Consortium. We developed an an…

Netherlands Twin Register (NTR)Statistical methodsAutismMedizinLOCIGenome-wide association studyheritabilityGenome-wide association studiesHistonesGenètica mèdica0302 clinical medicineHistone methylationDatabases Genetic2.1 Biological and endogenous factorsPsychologyGWASAetiologyPsychiatric geneticsR2Cbipolar disorderPsychiatry0303 health sciencesDisordersLociDepressionGeneral NeuroscienceMental DisordersMedical geneticsMETHYLATIONBrain3rd-DASSerious Mental IllnessPsychiatric Disorders3. Good healthHistoneMental HealthSchizophreniaMental DisorderCognitive Sciences[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]PromotersBDCBURDENRC0321 Neuroscience. Biological psychiatry. NeuropsychiatryHumanSignal Transductionmedicine.medical_specialtyDISORDERSGenomicsNetwork and Pathway Analysis Subgroup of Psychiatric Genomics ConsortiumBurdenBiologyMethylationArticleBiological pathwayPROMOTERS03 medical and health sciencesDatabasesGeneticmedicineGenetics/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_HumansGenetic Predisposition to Diseasehistone methylationBipolar disorderPsiquiatriaAUTISMPsychiatry030304 developmental biologyGenetic associationNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Neurology & NeurosurgeryNeuroscience (all)Human GenomeNeurosciencesmedicine.diseaseBrain DisordersGood Health and Well BeingDE-NOVO MUTATIONSPerturbações do Desenvolvimento Infantil e Saúde MentalRC0321SchizophreniaGenome-wide Association StudiesDe-novo mutationsmajor depressionNeuroscience030217 neurology & neurosurgeryGenome-Wide Association Study
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Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder

2018

Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n ~ 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generat…

Netherlands Twin Register (NTR)0301 basic medicineMajor Depressive Disorder and Bipolar Disorder Working Groups of the Psychiatric Genomics ConsortiumBipolar DisorderSAMPLEMedicine (miscellaneous)Pedigree chartDisease0302 clinical medicineSCHIZOPHRENIA2.1 Biological and endogenous factorsMedicineAetiologyANTICIPATIONlcsh:QH301-705.5Psychiatry0303 health sciencesDepressionASSOCIATIONSerious Mental IllnessPeer reviewMental HealthSchizophrenia/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingMajor depressive disorderGeneral Agricultural and Biological SciencesEngineering sciences. Technologymedicine.medical_specialtyContext (language use)ArticlePsykiatriGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesAGESDG 3 - Good Health and Well-beingddc:570Behavioral and Social Science/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_GeneticsPLINKGenetic TestingBipolar disorderPsychiatryBiology030304 developmental biologybusiness.industryPreventionHuman GenomeAssortative matingmedicine.diseaseBrain Disorders030104 developmental biologyMoodlcsh:Biology (General)Mood disordersAnticipation (genetics)ONSETHuman medicinebusiness030217 neurology & neurosurgery
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Erratum

2016

Author(s): Klionsky, DJ; Abdelmohsen, K; Abe, A; Abedin, MJ; Abeliovich, H; Arozena, AA; Adachi, H; Adams, CM; Adams, PD; Adeli, K; Adhihetty, PJ; Adler, SG; Agam, G; Agarwal, R; Aghi, MK; Agnello, M; Agostinis, P; Aguilar, PV; Aguirre-Ghiso, J; Airoldi, EM; Ait-Si-Ali, S; Akematsu, T; Akporiaye, ET; Al-Rubeai, M; Albaiceta, GM; Albanese, C; Albani, D; Albert, ML; Aldudo, J; Algul, H; Alirezaei, M; Alloza, I; Almasan, A; Almonte-Beceril, M; Alnemri, ES; Alonso, C; Altan-Bonnet, N; Altieri, DC; Alvarez, S; Alvarez-Erviti, L; Alves, S; Amadoro, G; Amano, A; Amantini, C; Ambrosio, S; Amelio, I; Amer, AO; Amessou, M; Amon, A; An, Z; Anania, FA; Andersen, SU; Andley, UP; Andreadi, CK; Andrieu-Ab…

0301 basic medicineSettore BIO/06biologyCell Biology[SDV.BC]Life Sciences [q-bio]/Cellular Biologybiology.organism_classificationCell biologyInterpretation (model theory)03 medical and health sciencesArama030104 developmental biologyMolecular BiologyHumanitiesComputingMilieux_MISCELLANEOUS
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MOESM1 of Lysine pathway metabolites and the risk of type 2 diabetes and cardiovascular disease in the PREDIMED study: results from two case-cohort s…

2019

Additional file 1. Additional figures and tables.

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