Search results for "Var"

showing 10 items of 14701 documents

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

2019

Supplemental Digital Content is available in the text.

0301 basic medicineLysine-tRNA LigaseMalePathologyMagnetic Resonance SpectroscopyMedizinmembrane proteins030204 cardiovascular system & hematologyMitochondrionDeafnessmedicine.disease_causeCompound heterozygosityCorrectionsLeukoencephalopathyMyelin0302 clinical medicineCytosolLeukoencephalopathies030212 general & internal medicineOvarian DiseasesTransfer RNA AminoacylationChildZebrafishMUTATIONExome sequencing10012MutationBrainMetabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]General MedicineMiddle AgedDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]Magnetic Resonance ImagingMitochondriaProtein Transportendoplasmic reticulummedicine.anatomical_structureChild PreschoolTransfer RNAComputingMethodologies_DOCUMENTANDTEXTPROCESSING/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Biological AssayFemaleWRBRare cancers Radboud Institute for Health Sciences [Radboudumc 9]Adultcardiomyopathiesmedicine.medical_specialtyMitochondrial diseaseAminoacylationMuscle disorderBiologyArticleMEDIATES INSERTIONAmino Acyl-tRNA Synthetases03 medical and health sciencesSDG 3 - Good Health and Well-beingmedicineAnimalsPoint MutationHumansAmino Acid SequenceAlleleAllelesCOMPLEXGenetic heterogeneitybusiness.industryArsenite Transporting ATPasesLeukodystrophyGenetic Variation10090Original ArticlesZebrafish Proteinsbiology.organism_classificationDILATED CARDIOMYOPATHYmedicine.diseasezebrafishGENEMolecular biologyDisease Models Animal030104 developmental biologyMembrane protein[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics10084Neurology (clinical)Transfer RNA AminoacylationMEMBRANEbusinessSequence Alignment030217 neurology & neurosurgeryexomeNeurology
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Targeting Angiogenesis in Biliary Tract Cancers: An Open Option

2017

Abstract: Biliary tract cancers (BTCs) are characterized by a bad prognosis and the armamentarium of drugs for their treatment is very poor. Although the inflammatory status of biliary tract represents the first step in the cancerogenesis, the microenvironment also plays a key role in the pathogenesis of BTCs, promoting tumor angiogenesis, invasion and metastasis. Several molecules, such as vascular endothelial growth factor (VEGF) and fibroblast growth factor (FGF), are involved in the angiogenesis process and their expression on tumor samples has been explored as prognostic marker in both cholangiocarcinoma and gallbladder cancer. Recent studies evaluated the genomic landscape of BTCs and…

0301 basic medicineMAPK/ERK pathwayVascular Endothelial Growth Factor AAngiogenesisDrug Evaluation PreclinicalTyrosine kinase inhibitorAngiogenesis InhibitorsReviewFibroblast growth factorCatalysiMetastasisAntineoplastic Agentlcsh:Chemistrychemistry.chemical_compoundangiogenesis0302 clinical medicinetyrosine kinase inhibitorsMolecular Targeted Therapylcsh:QH301-705.5SpectroscopyClinical Trials as TopicMonoclonal antibodieNeovascularization Pathologicvascular endothelial growth factorComputer Science Applications1707 Computer Vision and Pattern RecognitionGeneral MedicineComputer Science ApplicationsVascular endothelial growth factorGene Expression Regulation NeoplasticAngiogenesiChemistryBiliary Tract NeoplasmsTreatment OutcomeBiliary Tract Neoplasm030220 oncology & carcinogenesismonoclonal antibodiesTyrosine kinaseAngiogenesis InhibitorHumanSignal TransductionProtein Kinase InhibitorAntineoplastic Agentsbiliary tract cancersBiologyModels BiologicalAngiogenesis; Biliary tract cancers; Monoclonal antibodies; Tyrosine kinase inhibitors; Vascular endothelial growth factor; Angiogenesis Inhibitors; Animals; Antineoplastic Agents; Biliary Tract Neoplasms; Clinical Trials as Topic; Drug Evaluation Preclinical; Gene Expression Regulation Neoplastic; Genetic Variation; Humans; Models Biological; Neovascularization Pathologic; Protein Kinase Inhibitors; Signal Transduction; Treatment Outcome; Vascular Endothelial Growth Factor A; Molecular Targeted Therapy; Catalysis; Molecular Biology; Spectroscopy; Computer Science Applications1707 Computer Vision and Pattern Recognition; Physical and Theoretical Chemistry; Organic Chemistry; Inorganic ChemistryCatalysisInorganic Chemistry03 medical and health sciencesIn vivomedicineAnimalsHumansPhysical and Theoretical ChemistryGallbladder cancerMolecular BiologyProtein Kinase InhibitorsBiologyAnimalOrganic ChemistryGenetic Variationmedicine.disease030104 developmental biologychemistrylcsh:Biology (General)lcsh:QD1-999Immunologyangiogenesis; biliary tract cancers; monoclonal antibodies; tyrosine kinase inhibitors; vascular endothelial growth factorCancer researchBiliary tract cancerInternational Journal of Molecular Sciences
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Trends of extended-spectrum β-lactamase-producing Escherichia coli sequence type 131 and its H30 subclone in a French hospital over a 15-year period.

2016

International audience; Sequence type 131 (ST131) is a predominant lineage among extraintestinal pathogenic Escherichia coli. It plays a major role in the worldwide dissemination of E. coli producing extended-spectrum β-lactamases (ESBLs). Here we describe the long-term epidemiology of this clonal group in a French university hospital, where the incidence of ESBL-producing E. coli has increased from 0.018 case per 1000 patient-days in the year 2000 to 0.50 case per 1000 patient-days in 2014. The first of the 141 ST131 isolates was recovered in 2006, and the ST131 clonal group accounted for 18.1% of total ESBL-producing E. coli over the whole period (2000-2014). Subclonal typing showed that …

0301 basic medicineMESH : Escherichia coliMESH : Retrospective StudiesMESH : Multilocus Sequence TypingMESH: beta-LactamasesMESH : GenotypeMultidrug resistancemedicine.disease_causeHospitals UniversityMESH: Genotype[ SDV.MP ] Life Sciences [q-bio]/Microbiology and ParasitologyPharmacology (medical)MESH: IncidenceMESH: Genetic VariationEscherichia coli InfectionsComputingMilieux_MISCELLANEOUSCross InfectionMolecular EpidemiologyExtraintestinal Pathogenic Escherichia coliMESH: Escherichia coliIncidenceIncidence (epidemiology)MESH : beta-LactamasesGeneral MedicinePFGEMESH : IncidenceElectrophoresis Gel Pulsed-Field3. Good healthInfectious DiseasesMESH: Electrophoresis Gel Pulsed-FieldMESH: Multilocus Sequence Typing[SDV.MP]Life Sciences [q-bio]/Microbiology and ParasitologyMESH : Escherichia coli Infections[SDE]Environmental SciencesFranceMESH : Cross InfectionMicrobiology (medical)clone (Java method)Lineage (genetic)GenotypeMESH : Molecular Epidemiology030106 microbiologyBiologybeta-LactamasesMicrobiology03 medical and health sciencesExtended-spectrum β-lactamaseMESH : Genetic VariationEscherichia coliPulsed-field gel electrophoresismedicineHumansMESH: Molecular EpidemiologyTypingMESH : FranceEscherichia coliMESH : Hospitals UniversityRetrospective StudiesMESH : Electrophoresis Gel Pulsed-FieldMESH: Escherichia coli InfectionsMESH: Hospitals UniversityMESH: HumansMESH : HumansGenetic VariationMESH: Cross InfectionMESH: Retrospective Studiesbacterial infections and mycosesMultiple drug resistanceMESH: FranceESBLMultilocus Sequence Typing
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Dairy foods and health: an umbrella review of observational studies

2019

Evidence on consumption of dairy foods and human health is contradictory. This study aimed to summarize the level of evidence of dairy consumption on various health outcomes. A systematic search for meta-analyses was performed: study design, dose–response relationship, heterogeneity and agreement of results over time, and identification of potential confounding factors were considered to assess the level of evidence. Convincing and probable evidence of decreased risk of colorectal cancer, hypertension and cardiovascular disease, elevated blood pressure and fatal stroke, respectively, was found for total dairy consumption; possible decreased risk of breast cancer, metabolic syndrome, stroke …

0301 basic medicineMILK CONSUMPTIONPROSTATE-CANCER RISKHealth Status030209 endocrinology & metabolismDiseaseOVARIAN-CANCERmeta-analysiCOLORECTAL-CANCERcheeseyogurt03 medical and health sciences0302 clinical medicineBreast cancerMeta-Analysis as TopicEnvironmental healthDiabetes mellitusBREAST-CANCERMedicineHumansSettore MED/49 - Scienze Tecniche Dietetiche ApplicateVITAMIN-DTRANS-PALMITOLEIC ACIDmilk030109 nutrition & dieteticsumbrella reviewevidencebusiness.industryConfoundingCARDIOVASCULAR-DISEASE RISKcohortEvidence-based medicineprospectivemedicine.diseasebutter; cheese; cohort; Dairy products; evidence; meta-analysis; milk; prospective; umbrella review; yogurtmeta-analysisbutterDairy productObservational Studies as TopicPRODUCTS CONSUMPTIONMeta-analysisObservational studyDOSE-RESPONSE METAANALYSISDairy ProductsMetabolic syndromebusinessFood Science
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The IgGFc-binding protein FCGBP is secreted with all GDPH sequences cleaved but maintained by interfragment disulfide bonds

2021

Mucus forms an important protective barrier that minimizes bacterial contact with the colonic epithelium. Intestinal mucus is organized in a complex network with several specific proteins, including the mucin-2 (MUC2) and the abundant IgGFc-binding protein, FCGBP. FCGBP is expressed in all intestinal goblet cells and is secreted into the mucus. It is comprised of repeated von Willebrand D (vWD) domain assemblies, most of which have a GDPH amino acid sequence that can be autocatalytically cleaved, as previously observed in the mucins MUC2 and mucin-5AC. However, the functions of FCGBP in the mucus are not understood. We show that all vWD domains of FCGBP with a GDPH sequence are cleaved and …

0301 basic medicineMUC5AC mucin-5ACMUC2 mucin-2 (Muc2 mouse)vWF von Willebrand factorBiochemistryvon Willebrand domainchemistry.chemical_compoundPVDF polyvinylidene difluorideMiceCricetinaeDisulfidesIntestinal MucosaPeptide sequenceEndoH endoglycosidase HbiologyChemistryrespiratory systemGDPH Gly-Asp-Pro-HisChaotropic agentBiochemistryWB Western blotIodoacetamideGuHCl guanidinium chlorideResearch ArticleIgG immunoglobulin GvWD von Willebrand D domainCHO CellsCHO Chinese hamster ovary03 medical and health sciencesEndoglycosidase HCricetulusProtein Domainsmucusvon Willebrand FactorAnimalsHumansintestinal epitheliumMolecular BiologyintestineFCGBP IgGFc-binding protein (Fcgbp mouse)GAPH Gly-Ala-Pro-HisMucin-2030102 biochemistry & molecular biologycolonBinding proteinEndoplasmic reticulumMucinITH3 inter-alpha-trypsin inhibitor heavy chain 3Cell BiologyMucusMice Inbred C57BL030104 developmental biologyMUC2Proteolysisbiology.proteinImmunoglobulin G (IgG)IAA iodoacetamideCell Adhesion MoleculesdisulfideThe Journal of Biological Chemistry
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Better together than alone: the cumulus benefits.

2018

0301 basic medicineMale030219 obstetrics & reproductive medicinebusiness.industryMEDLINEObstetrics and GynecologyBiologyBioinformaticsSpermatozoa03 medical and health sciences030104 developmental biology0302 clinical medicineText miningmedicine.anatomical_structureReproductive MedicineOvarian FolliclemedicineHumansFemaleSperm Injections IntracytoplasmicOvarian folliclebusinessFertility and sterility
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Six year adalimumab efficacy in steroid-dependent Crohn's disease patients: A prospective single-center real life study.

2016

Abstract Background Adalimumab is effective in the treatment of Crohn's disease. We have already reported data on the efficacy of adalimumab in 110 steroid-dependent patients. At the end of the study 90 patients (64.5%) maintained clinical remission. Aims To assess efficacy and safety of adalimumab after 6 years in patients of the original cohort who responded to treatment. Methods The present study is an extension of the published paper on 90/110 patients. We report results on clinical remission and safety of 6 year maintenance therapy with adalimumab. Results Of the original cohort 90 patients completed the study, 17 were lost to follow-up and 3 died. At the end of follow-up (74.16 ± 10.3…

0301 basic medicineMaleAnti-Inflammatory AgentsKaplan-Meier EstimateSingle CenterInflammatory bowel diseaseInflammatory bowel disease0302 clinical medicineMaintenance therapyCrohn DiseaseLong term therapyProspective Studiesskin and connective tissue diseasesProspective cohort studyMultivariate AnalysiCrohn's diseaseRemission InductionGastroenterologyMiddle AgedCrohn's diseaseAnti-Inflammatory AgentTreatment OutcomeItalyCohort030211 gastroenterology & hepatologyFemaleSteroidsHumanmedicine.drugmusculoskeletal diseasesAdultmedicine.medical_specialtySteroid dependencyMaintenance Chemotherapy03 medical and health sciencesInternal medicinemedicineAdalimumabHumansAdverse effectSteroidHepatologybusiness.industryAdalimumabmedicine.diseaseSurgeryProspective Studie030104 developmental biologyMultivariate AnalysisbusinessDigestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
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Effects of a Lactobacillus salivarius mixture on performance, intestinal health and serum lipids of broiler chickens

2017

The ban or severe restriction on the use of antibiotics in poultry feeds to promote growth has led to considerable interest to find alternative approaches. Probiotics have been considered as such alternatives. In the present study, the effects of a Lactobacillus mixture composed from three previously isolated Lactobacillus salivarius strains (CI1, CI2 and CI3) from chicken intestines on performance, intestinal health status and serum lipids of broiler chickens has been evaluated. Supplementation of the mixture at a concentration of 0.5 or 1 g kg-1 of diet to broilers for 42 days improved body weight, body weight gain and FCR, reduced total cholesterol, LDL-cholesterol and triglycerides, inc…

0301 basic medicineMaleAntibioticsBlood lipidslcsh:MedicineWeight GainBiochemistryPoultrylaw.inventionProbioticRandom AllocationlawLactobacillusMedicine and Health SciencesGamefowlFood sciencelcsh:ScienceBifidobacteriumGlucuronidaseMultidisciplinarybiologyLactobacillus salivariusbeta-Glucosidasefood and beveragesAgriculture04 agricultural and veterinary sciencesLipidsIntestinesCholesterolVertebratesAnatomyResearch Articleanimal structuresmedicine.drug_classReal-Time Polymerase Chain ReactionMicrobiologyBirds03 medical and health sciencesmedicineAnimalsNutritionBacteriaProbioticslcsh:RGut Bacteria0402 animal and dairy scienceBroilerOrganismsBiology and Life Sciencesbiology.organism_classification040201 dairy & animal scienceAnimal FeedDietGastrointestinal MicrobiomeGastrointestinal TractLactobacillus030104 developmental biologyFowlAmniotesLigilactobacillus salivariuslcsh:QBifidobacteriumChickensDigestive SystemBacteriaPLoS ONE
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Sclerostin and antisclerostin antibody serum levels predict the presence of axial spondyloarthritis in patients with inflammatory bowel disease

2018

Objective.The early diagnosis of inflammatory bowel disease (IBD)-associated spondyloarthritis (SpA/IBD) in patients affected by IBD represents a major topic in clinical practice; in particular, to date there are no available serum biomarkers revealing the presence of joint inflammation in these patients. Sclerostin (SOST), an antagonist of the Wnt/β-catenin pathway, and antisclerostin-immunoglobulin G (anti-SOST–IgG) have been recently studied in patients with ankylosing spondylitis (AS) as a putative marker of disease activity.Methods.SOST and anti-SOST-IgG serum levels were assayed in 125 patients with IBD, 85 with axial or peripheral SpA, and in control groups (patients with AS and rheu…

0301 basic medicineMaleAntibodieAntigen-Antibody ComplexInflammatory bowel diseaseGastroenterologyPathogenesischemistry.chemical_compound0302 clinical medicineGenetic MarkerImmunology and AllergyProspective StudiesMultivariate AnalysibiologyWnt signaling pathwayMiddle AgedRheumatoid arthritisBone Morphogenetic ProteinsRegression AnalysisFemalemedicine.symptomAntibodyHumanGenetic MarkersAdultmedicine.medical_specialtySclerostinImmunologyInflammationAntibodiesRegression AnalysiStatistics Nonparametric03 medical and health sciencesRheumatologyInternal medicineSpondyloarthritismedicineHumansSpondylitis AnkylosingAdaptor Proteins Signal TransducingAntisclerostin Antibodie030203 arthritis & rheumatologyAnkylosing spondylitisbusiness.industryBone Morphogenetic ProteinInflammatory Bowel DiseaseBiomarkerInflammatory Bowel Diseasesmedicine.diseaseProspective StudieSettore MED/16 - Reumatologia030104 developmental biologychemistryROC CurveImmunoglobulin GMultivariate Analysisbiology.proteinSclerostinSpondyloarthritibusinessBiomarkers
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Threshold Effects of Circulating Angiopoietin-Like 3 Levels on Plasma Lipoproteins.

2017

Abstract Context Angiopoietin-like 3 (ANGPTL3) deficiency in plasma due to loss-of-function gene mutations results in familial combined hypobetalipoproteinemia type 2 (FHBL2) in homozygotes. However, the lipid phenotype in heterozygotes is much milder and does not appear to relate directly to ANGPTL3 levels. Furthermore, the low-density lipoprotein (LDL) phenotype in carriers of ANGPTL3 mutations is unexplained. Objective To determine whether reduction below a critical threshold in plasma ANGPTL3 levels is a determinant of lipoprotein metabolism in FHBL2, and to determine whether proprotein convertase subtilisin kexin type 9 (PCSK9) is involved in determining low LDL levels in this conditio…

0301 basic medicineMaleApolipoprotein BEndocrinology Diabetes and MetabolismClinical BiochemistryBiochemistryLipoprotein particlePCSK9Cohort StudiesHypobetalipoproteinemiaschemistry.chemical_compoundEndocrinologyANGPTL3biologyChemistryMiddle AgedPedigreeLipoproteins LDLPhenotypeKexinlipids (amino acids peptides and proteins)FemaleANGPTL3; familial combined hypolipidemia; PCSK9Lipoproteins HDLAdultmedicine.medical_specialtyHeterozygoteBlotting Western03 medical and health sciencesInternal medicinemedicineHumansGenetic Predisposition to DiseaseClinical Research ArticlesAgedAngiopoietin-Like Protein 3Apolipoproteins BCholesterolPCSK9Biochemistry (medical)medicine.disease030104 developmental biologyEndocrinologyAngiopoietin-like ProteinsLDL receptorMultivariate AnalysisMutationbiology.proteinLinear Modelsfamilial combined hypobetalipoproteinemiaHypobetalipoproteinemiaAngiopoietinsLipoprotein
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