Search results for "ARTICLES"

showing 10 items of 9626 documents

NEGR1 and FGFR2 cooperatively regulate cortical development and core behaviours related to autism disorders in mice.

2018

See Contreras and Hippenmeyer (doi:10.1093/brain/awy218) for a scientific commentary on this article. Autism spectrum disorders (ASDs) are complex conditions with diverse aetiologies. Szczurkowska et al. demonstrate that two ASD-related molecules – FGFR2 and Negr1 – physically interact to act on the same downstream pathway, and regulate cortical development and ASD-relevant behaviours in mice. Identifying common mechanisms in ASDs may reveal targets for pharmacological intervention.

0301 basic medicineMAPK/ERK pathwaygenetic structuresAutism Spectrum DisorderFGFR2 signalingFibroblast growth factorReceptor tyrosine kinaseMiceautism; development; cell adhesion; in utero electroporation; FGFR2 signaling0302 clinical medicineCell MovementCerebral CortexMice KnockoutbiologyBehavior AnimalKinaseCell adhesion moleculeCell biologyProtein TransportSignal Transductionmusculoskeletal diseasesMAP Kinase Signaling SystemCell Adhesion Molecules NeuronalDendritic SpinesNeurogenesisautismDown-Regulationbehavioral disciplines and activities03 medical and health sciencesmental disordersmedicineAnimalsHumansAutistic DisorderReceptor Fibroblast Growth Factor Type 2developmentProtein kinase BFibroblast growth factor receptor 2Cell Membranecell adhesionOriginal Articlesin utero electroporationmedicine.diseaseMice Inbred C57BLDisease Models Animal030104 developmental biologyHEK293 Cellsbiology.proteinAutismNeurology (clinical)030217 neurology & neurosurgeryBrain : a journal of neurology
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Arrestin-β-1 Physically Scaffolds TSH and IGF1 Receptors to Enable Crosstalk

2019

Endogenously expressed TSH receptors (TSHRs) on orbital fibroblasts of patients with Graves ophthalmopathy (GO) use crosstalk with IGF1 receptors (IGF1R) to synergistically stimulate secretion of hyaluronan (HA), a major component of GO pathology. We previously showed crosstalk occurred upstream of mitogen-activated protein kinase (ERK) phosphorylation. Because other G protein-coupled receptors engage arrestin-β-1 (ARRB1) and ERK, we tested whether ARRB1 was a necessary component of TSHR/IGF1R crosstalk. HA secretion was stimulated by the TSHR-stimulating monoclonal antibodies M22 and KSAb1, or immunoglobulins from patients with GO (GO-Igs). Treatment with M22, as previously shown, resulted…

0301 basic medicineMAPK/ERK pathwaymedicine.medical_specialty030209 endocrinology & metabolismStimulationReceptor tyrosine kinaseCell LineReceptor IGF Type 103 medical and health sciencesMice0302 clinical medicineEndocrinologyInternal medicinemedicineArrestinAnimalsHumansPhosphorylationProtein kinase AReceptorResearch ArticlesbiologyChemistryReceptors Thyrotropinbody regionsGraves OphthalmopathyCrosstalk (biology)030104 developmental biologyEndocrinologybeta-Arrestin 1Thyroid Epithelial CellsGene Knockdown Techniquesbiology.proteinPhosphorylationSignal Transduction
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A rare disease and education : Neurofibromatosis type 1 decreases educational attainment

2021

Rare heritable syndromes may affect educational attainment. Here, we study education in neurofibromatosis 1 (NF1) that is associated with multifaceted medical, social and cognitive consequences. Educational attainment in the Finnish population‐based cohort of 1408 individuals with verified NF1 was compared with matched controls using Cox proportional hazards model with delayed entry and competing risk for death. Moreover, models accounting for the effects of cancer at age 15–30 years, parental NF1 and developmental disorders were constructed. Overall, the attainment of secondary education was reduced in individuals with NF1 compared to controls (hazard ratio 0.83, 95%CI 0.74–0.92). History …

0301 basic medicineMale030105 genetics & heredityNeoplasmsneurofibromatosis 1ChildGenetics (clinical)FinlandLearning DisabilitiesHazard ratioCognitionVocational educationChild Preschooleducational attainmentCohortEducational StatusFemaleOriginal ArticleAdultopintomenestyscongenital hereditary and neonatal diseases and abnormalitiesNeurofibromatosis 1Adolescentrare diseaseneurofibromatoosiAffect (psychology)multiorgan syndromeschool performance03 medical and health sciencesRare DiseaseskoulutustasoGeneticsmedicineHumansEducation Graduateharvinaiset tauditNeurofibromatosisneoplasmsProportional Hazards ModelsVocational Educationperinnölliset tauditProportional hazards modelbusiness.industrySiblingsOriginal Articlesmedicine.diseaseEducational attainmenteye diseasesnervous system diseases030104 developmental biologybusinessDemographyFollow-Up Studies
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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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Retrospective study of small pet tumors treated with Artemisia annua and iron.

2019

Artemisinin from Artemisia annua L. and its derivatives are well‑known antimalarial drugs. In addition, in vitro studies, in vivo studies and clinical trials have demonstrated that these drugs exhibit anticancer activity in human patients with cancer. Therefore, the aim of the present study was to investigate whether a phytotherapeutic A. annua preparation exerts anticancer activity in veterinary tumors of small pets. Dogs and cats with spontaneous cancer (n=20) were treated with standard therapy plus a commercial A. annua preparation (Luparte®) and compared with a control group treated with standard therapy alone (n=11). Immunohistochemical analyses were performed with formalin‑fixed paraf…

0301 basic medicineMaleCancer Researchnatural productsIronArtemisia annuaTransferrin receptorApoptosisBiologyPharmacologyArtemisia annuaAsteraceaeCat Diseaseschemotherapy03 medical and health sciences0302 clinical medicineDogsIn vivomedicineTumor Cells CulturedAnimalsDog DiseasesArtemisininProspective cohort studyCell ProliferationRetrospective StudiesOncogenePlant ExtractsCancerphytotherapyprognostic factorsNeoplasms ExperimentalArticlesbiology.organism_classificationmedicine.diseaseMolecular medicine030104 developmental biologyOncologyartemisinin030220 oncology & carcinogenesisCatsFemalemedicine.drugInternational journal of oncology
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The role of myoglobin in epithelial cancers: Insights from transcriptomics

2019

The muscle-associated respiratory protein myoglobin (MB) is expressed in multiple types of cancer, including breast and prostate tumors. In Kaplan-Meier analyses of the two tumor types, MB positivity is associated with favorable prognoses. Despite its well-characterized function in myocytes, the role of MB in cancer remains unclear. To study the impact of endogenous MB expression, small interfering RNA MB-knockdown cells were engineered using breast, prostate and colon cancer cell lines (MDA-MB468, LNCaP, DLD-1), and their transcriptomes were investigated using RNA-Seq at different oxygen levels. In MB-positive cells, increased expression of glycolytic genes was observed, which was possibly…

0301 basic medicineMaleCarcinogenesisCellMedizinBreast NeoplasmsBiologymedicine.disease_causeTranscriptome03 medical and health sciences0302 clinical medicinebreast cancer1311 GeneticsCell Line TumorLNCaPGeneticsmedicineHumansGene Regulatory NetworksRNA-SeqhypoxiaMyoglobinCancerProstatic NeoplasmsGeneral MedicineArticlesCell cycle10081 Institute of Veterinary Physiologymedicine.diseaseprostate cancerRespiratory proteinGene Expression Regulation Neoplastic030104 developmental biologymedicine.anatomical_structurecolon cancer030220 oncology & carcinogenesisCancer cellColonic NeoplasmsCancer research570 Life sciences; biologyFemaleCarcinogenesisTranscriptomeInternational Journal of Molecular Medicine
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Bioenergetic shift and actin cytoskeleton remodelling as acute vascular adaptive mechanisms to angiotensin II in murine retina and ophthalmic artery

2020

Ocular vascular dysfunction is a major contributing factor to the pathogenesis of glaucoma. In recent years, there has been a renewed interest in the role of angiotensin II (Ang II) in mediating the disease progression. Despite its (patho)physiological importance, the molecular mechanisms underlying Ang II-mediated oxidative stress remain largely unexplored in the ocular vasculature. Here, we provide the first direct evidence of the alterations of proteome and signalling pathways underlying Ang II-elicited oxidative insult independent of arterial pressure changes in the ophthalmic artery (OA) and retina (R) employing an in vitro experimental model. Both R and OA were isolated from male C57B…

0301 basic medicineMaleClinical BiochemistryBiologyBioenergeticsProteomicsBiochemistryRetinaPathogenesis03 medical and health sciencesMice0302 clinical medicineArticles from the Special Issue on Oxidative stress in retina and retinal pigment epithelium in health and disease; Edited by Vera BonilhaDownregulation and upregulationOphthalmic arteryAnimalsCytoskeletonlcsh:QH301-705.5Cytoskeletonlcsh:R5-920KinaseAngiotensin IIOrganic ChemistryGlaucomaActin cytoskeletonAngiotensin IICell biologyMice Inbred C57BLActin Cytoskeleton030104 developmental biologylcsh:Biology (General)Proteomelcsh:Medicine (General)Oxidation-Reduction030217 neurology & neurosurgeryRedox Biology
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Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

2016

Genome-wide study in Germans identifies four novel multiple sclerosis risk genes and confirms already known gene loci.

0301 basic medicineMaleDLEU1MedizinGenome-wide association studyEpigenesis GeneticCohort StudiesResearch ArticlesTranscriptional Regulator ERGGeneticsAged 80 and overGlycine Hydroxymethyltransferaseeducation.field_of_studyMultidisciplinaryDNA methylationSciAdv r-articlesMiddle AgedSHMT13. Good healthddc:DNA-Binding ProteinsERGDNA methylationFemaleMAZFunction and Dysfunction of the Nervous SystemResearch ArticleAdultAdolescentPopulationQuantitative Trait Loci610 Medicine & healthDleu1 ; Dna Methylation ; Erg ; L3mbtl3 ; Maz ; Multiple Sclerosis ; Shmt1 ; Genome-wide Association StudyQuantitative trait locusBiologyMajor histocompatibility complexNeurological DisordersMultiple sclerosis03 medical and health sciencesYoung AdultTranscriptional Regulator ERGHumansGenetic Predisposition to DiseaseL3MBTL3EpigeneticsAlleleeducationAllelesAgedgenome-wide association study030104 developmental biologyGenetic LociCase-Control Studiesbiology.proteinTranscription Factors
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Follicular dendritic cells display microvesicle-associated LMP1 in reactive germinal centers of EBV+ classic Hodgkin lymphoma

2018

Expression of the latent membrane protein-1 (LMP1) of Epstein-Barr virus (EBV) was investigated in 153 cases of EBV+ classic Hodgkin lymphoma (cHL); 120 cases were pediatric patients (< 14 years of age) from Iraq, and 33 cases were adult patients from Italy. We describe for the first time the presence of LMP1 protein in EBV-encoded RNA (EBER)-negative follicular dendritic cells (FDCs) of reactive germinal centers (GC) associated with EBV+ cHL. Presence of LMP1+ GCs was independent of geographic region and age of patients. Variable numbers of reactive GCs were present in 22.2% of cases (34 of 153), whereas LMP1 staining of FDCs was present in about a third of cases (10 of 34) with reactiv…

0301 basic medicineMaleEpstein-Barr Virus InfectionsClassic Hodgkin lymphoma (cHL)CD30Follicular dendritic cells (FDCs)Exosomes and&nbsp0302 clinical medicineclassic hodgkin lymphoma (chl); epstein-barr virus (ebv); exosomes and microvesicles; follicular dendritic cells (fdcs); latent membrane protein-1 (lmp1); programmed death ligand 1 (pd-l1)Nodular sclerosisCell-Derived MicroparticlesEpstein-Barr Virus Infectionhemic and lymphatic diseasesChildCD63MicrovesicleGeneral MedicineMiddle AgedHodgkin DiseaseEpstein-Barr virus (EBV)Cell-Derived Microparticle030220 oncology & carcinogenesisProgrammed death ligand 1 (PD-L1)microvesicleOriginal ArticleFemaleHumanAdultBiologyVirusPathology and Forensic MedicineViral Matrix Proteins03 medical and health sciencesExosomes and microvesiclesmedicineotorhinolaryngologic diseasesHumansMolecular BiologyEpstein–Barr virus infectionAgedFollicular dendritic cellsGerminal centerCell Biologymedicine.diseaseGerminal CenterMolecular biologystomatognathic diseases030104 developmental biologyLatent membrane protein-1 (LMP1)Dendritic Cells Follicular
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Phase III, randomised trial of avelumab versus physician's choice of chemotherapy as third-line treatment of patients with advanced gastric or gastro…

2018

BACKGROUND: There currently are no internationally recognised treatment guidelines for patients with advanced gastric cancer/gastro-oesophageal junction cancer (GC/GEJC) in whom two prior lines of therapy have failed. The randomised, phase III JAVELIN Gastric 300 trial compared avelumab versus physician's choice of chemotherapy as third-line therapy in patients with advanced GC/GEJC. PATIENTS AND METHODS: Patients with unresectable, recurrent, locally advanced, or metastatic GC/GEJC were recruited at 147 sites globally. All patients were randomised to receive either avelumab 10 mg/kg by intravenous infusion every 2 weeks or physician's choice of chemotherapy (paclitaxel 80 mg/m2 on days 1, …

0301 basic medicineMaleEsophageal Neoplasmsmedicine.medical_treatmentchemotherapyGastroenterologyChoice Behaviorlaw.invention0302 clinical medicineRandomized controlled triallawAntineoplastic Combined Chemotherapy ProtocolsClinical endpointMedicinePractice Patterns Physicians'Aged 80 and overHazard ratioAntibodies MonoclonalHematologyMiddle AgedPrognosisChemotherapy regimenAdenocarcinoma MucinousSurvival RateOncology030220 oncology & carcinogenesisFemaleImmunotherapyEsophagogastric Junctionmedicine.drugPD-L1Adultmedicine.medical_specialtyAdolescentPaclitaxelAdenocarcinomaAntibodies Monoclonal HumanizedIrinotecanDecision Support Techniquesgastro-oesophageal junction cancer03 medical and health sciencesYoung AdultStomach NeoplasmsInternal medicineGastrointestinal TumorsHumansddc:610Survival rateAgedChemotherapybusiness.industrygastric cancerInternational AgenciesOriginal Articlesphase IIICarcinoma PapillaryClinical trialIrinotecanEditor's Choice030104 developmental biologyavelumabNeoplasm Recurrence LocalbusinessCarcinoma Signet Ring CellBiomarkersFollow-Up Studies
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