Search results for "R2"

showing 10 items of 285 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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Neutrophils restrain allergic airway inflammation by limiting ILC2 function and monocyte-dendritic cell antigen presentation

2019

Neutrophil mobilization, recruitment, and clearance must be tightly regulated as overexuberant neutrophilic inflammation is implicated in the pathology of chronic diseases, including asthma. Efforts to target neutrophils therapeutically have failed to consider their pleiotropic functions and the implications of disrupting fundamental regulatory pathways that govern their turnover during homeostasis and inflammation. Using the house dust mite (HDM) model of allergic airway disease, we demonstrate that neutrophil depletion unexpectedly resulted in exacerbated T helper 2 (TH2) inflammation, epithelial remodeling, and airway resistance. Mechanistically, this was attributable to a marked increas…

0301 basic medicineMONOCLONAL-ANTIBODYNeutrophilsmedicine.medical_treatmentImmunologyAntigen presentationINNATE LYMPHOID-CELLSInflammationG-CSFGranulocyteArticleMonocytesAllergic sensitizationDOUBLE-BLINDMice03 medical and health sciences0302 clinical medicineSPUTUMHypersensitivitymedicineAnimalsHumansLymphocytesInflammationAntigen PresentationMice Inbred BALB CScience & Technologybusiness.industryMonocyteInnate lymphoid cellDendritic CellsGeneral MedicineDendritic cellCOLONY-STIMULATING FACTORImmunity Innate3. Good health030104 developmental biologymedicine.anatomical_structureCytokineCXCR2 ANTAGONIST AZD5069030228 respiratory systemImmunologyT-CELLSFemalemedicine.symptombusinessLife Sciences & BiomedicineGRANULOCYTESEVERE ASTHMA
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Muscle and serum metabolomes are dysregulated in colon-26 tumor-bearing mice despite amelioration of cachexia with activin receptor type 2B ligand bl…

2019

Cancer-associated cachexia reduces survival, which has been attenuated by blocking the activin receptor type 2B (ACVR2B) ligands in mice. The purpose of this study was to unravel the underlying physiology and novel cachexia biomarkers by use of the colon-26 (C26) carcinoma model of cancer cachexia. Male BALB/c mice were subcutaneously inoculated with C26 cancer cells or vehicle control. Tumor-bearing mice were treated with vehicle (C26+PBS) or soluble ACVR2B either before (C26+sACVR/b) or before and after (C26+sACVR/c) tumor formation. Skeletal muscle and serum metabolomics analysis was conducted by gas chromatography-mass spectrometry. Cancer altered various biologically functional groups …

0301 basic medicineMaleCachexiaPhysiologyEndocrinology Diabetes and MetabolismActivin Receptors Type IIlihaksetMyostatinMice0302 clinical medicineAmino Acidsta315Activin Receptor Type-2BbiologyOrganophosphatesRecombinant Proteins3. Good healthmedicine.anatomical_structureribosome030220 oncology & carcinogenesismyostatinColonic NeoplasmsMetabolomesyöpätauditC26Metabolic Networks and Pathwaysmedicine.medical_specialtyPhenylalanineCachexia03 medical and health sciencesribosomitPhysiology (medical)Internal medicineCell Line TumormedicineAnimalsskeletal muscleMuscle SkeletalPI3K/AKT/mTOR pathwaybusiness.industrySkeletal muscleCancermedicine.diseaseta3122BlockadeImmunoglobulin Fc Fragments030104 developmental biologyEndocrinologyProtein Biosynthesisbiology.proteinaineenvaihduntatuotteetPyrimidine NucleotidesproteiinitbusinesslihassurkastumasairaudetACVR2BAmerican journal of physiology. Endocrinology and metabolism
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Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia

2019

Developmental dyslexia (DD) is one of the most prevalent learning disorders, with high impact on school and psychosocial development and high comorbidity with conditions like attention-deficit hyperactivity disorder (ADHD), depression, and anxiety. DD is characterized by deficits in different cognitive skills, including word reading, spelling, rapid naming, and phonology. To investigate the genetic basis of DD, we conducted a genome-wide association study (GWAS) of these skills within one of the largest studies available, including nine cohorts of reading-impaired and typically developing children of European ancestry (N = 2562–3468). We observed a genome-wide significant effect (p < 1 × 10…

0301 basic medicineMaleCandidate geneMultifactorial InheritanceImaging geneticsQH301 BiologyLANGUAGEGenome-wide association study3124 Neurology and psychiatryCANDIDATE GENESDyslexiaCohort StudiesREADING-DISABILITYMOLECULAR-GENETICS0302 clinical medicineCognitionAUTOMATIZED NAMING RANChildSUSCEPTIBILITY LOCUSRapid automatized namingR2CSHORT-TERM-MEMORY~DC~IMAGING-GENETICSRJ Pediatrics[SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive SciencesPsychiatry and Mental healthDyslexia/geneticsAnxietyFemalemedicine.symptomBDCRC0321 Neuroscience. Biological psychiatry. NeuropsychiatryClinical psychologyNeuroinformaticsAdultReading disabilityAdolescentGenotypeRJPolymorphism Single NucleotideArticlelcsh:RC321-571ENVIRONMENTAL-INFLUENCES03 medical and health sciencesCellular and Molecular NeuroscienceQH301Young AdultmedicinedysleksiaHumansGenetic Predisposition to Diseaselcsh:Neurosciences. Biological psychiatry. NeuropsychiatryBiological Psychiatrygeenitbusiness.industryDyslexiaDASmedicine.diseaseComorbiditypredictors030104 developmental biology[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsRC0321DEVELOPMENTAL DYSLEXIAbusiness030217 neurology & neurosurgeryGenome-Wide Association Study
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The Commensal Microbiota Enhances ADP-Triggered Integrin αIIbβ3 Activation and von Willebrand Factor-Mediated Platelet Deposition to Type I Collagen

2020

The commensal microbiota is a recognized enhancer of arterial thrombus growth. While several studies have demonstrated the prothrombotic role of the gut microbiota, the molecular mechanisms promoting arterial thrombus growth are still under debate. Here, we demonstrate that germ-free (GF) mice, which from birth lack colonization with a gut microbiota, show diminished static deposition of washed platelets to type I collagen compared with their conventionally raised (CONV-R) counterparts. Flow cytometry experiments revealed that platelets from GF mice show diminished activation of the integrin αIIbβ3 (glycoprotein IIbIIIa) when activated by the platelet agonist adenosine diphosphate (ADP). Fu…

0301 basic medicineMaleGene Expression030204 cardiovascular system & hematologyvon Willebrand factorlcsh:Chemistrychemistry.chemical_compoundMice0302 clinical medicinePlateletToll-like receptor-2lcsh:QH301-705.5SpectroscopyMice KnockoutbiologyChemistryBrief ReportαIIbβ3General MedicineArteriesComputer Science ApplicationsCell biologyAdenosine DiphosphatePlatelet Glycoprotein GPIb-IX Complexgerm-freeplateletsFemaleType I collagenBlood PlateletsIntegrinPrimary Cell CulturePlatelet Glycoprotein GPIIb-IIIa ComplexCatalysisCollagen Type IInorganic Chemistry03 medical and health sciencesVon Willebrand factormedicineCell AdhesionmicrobiotaAnimalsGerm-Free LifeHumansPhysical and Theoretical ChemistryThrombusSymbiosisMolecular Biologyα<sub>IIb</sub>β<sub>3</sub>Innate immune systemOrganic ChemistryThrombosismedicine.diseaseImmunity InnateToll-Like Receptor 2Gastrointestinal MicrobiomeMice Inbred C57BLAdenosine diphosphateTLR2030104 developmental biologylcsh:Biology (General)lcsh:QD1-999biology.proteinInternational Journal of Molecular Sciences
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MicroRNAs and Drinking : Association between the Pre-miR-27a rs895819 Polymorphism and Alcohol Consumption in a Mediterranean Population

2016

Recently, microRNAs (miRNA) have been proposed as regulators in the different processes involved in alcohol intake, and differences have been found in the miRNA expression profile in alcoholics. However, no study has focused on analyzing polymorphisms in genes encoding miRNAs and daily alcohol consumption at the population level. Our aim was to investigate the association between a functional polymorphism in the pre-miR-27a (rs895819 A>G) gene and alcohol consumption in an elderly population. We undertook a cross-sectional study of PREvención con DIeta MEDiterránea (PREDIMED)-Valencia participants (n = 1007, including men and women aged 67 7 years) and measured their alcohol consumption (to…

0301 basic medicineMaleMicro RNAsMediterranean dietCross-sectional studyPhysiologyAlcoholmiR27aMediterraneanCOLORECTAL-CANCERFUNCTIONAL POLYMORPHISMlcsh:Chemistrychemistry.chemical_compoundPolymorphism (computer science)GenotypeMedicineMolecular geneticslcsh:QH301-705.5SpectroscopyGeneticsRISKeducation.field_of_studyMediterranean RegionalcoholGeneral MedicineMiddle AgedComputer Science ApplicationsmicroRNAsDrinking of alcoholic beveragesSINGLE NUCLEOTIDE POLYMORPHISMSMENDELIAN RANDOMIZATIONMir27aConsum d'alcoholFemaleAlcoholAlcohol DrinkingGenotypePopulationGENETIC VARIANTHEART-DISEASEPolymorphism Single NucleotideCatalysisArticleGenètica molecularInorganic Chemistry03 medical and health sciencesMediterranean cookingUSE DISORDERSmicroRNACuina mediterràniaHumansPhysical and Theoretical ChemistryeducationMolecular BiologyAgedCHINESE POPULATIONbusiness.industryOrganic ChemistrymicroRNAs; alcohol; miR27a; Mediterraneanmedicine.diseaseObesityMicroRNAs030104 developmental biologyCross-Sectional Studieschemistrylcsh:Biology (General)lcsh:QD1-999GASTRIC-CANCER SUSCEPTIBILITYbusiness
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Systemic Candidiasis and TLR2 Agonist Exposure Impact the Antifungal Response of Hematopoietic Stem and Progenitor Cells.

2018

We have previously demonstrated that Candida albicans induces differentiation of hematopoietic stem and progenitor cells (HSPCs) toward the myeloid lineage both in vitro and in vivo in a TLR2- and Dectin-1-dependent manner, giving rise to functional macrophages. In this work, we used an ex vivo model to investigate the functional consequences for macrophages derived from HSPCs in vivo-exposed to Pam3CSK4 (a TLR2 agonist) or C. albicans infection. Short in vivo treatment of mice with Pam3CSK4 results in a tolerized phenotype of ex vivo HSPC-derived macrophages, whereas an extended Pam3CSK4 treatment confers a trained phenotype. Early during candidiasis, HSPCs give rise to macrophages trained…

0301 basic medicineMicrobiology (medical)medicine.medical_treatmenthematopoietic stem and progenitor cellsImmunologylcsh:QR1-502Colony Count MicrobialBiologyKidneyMicrobiologylcsh:Microbiology03 medical and health sciencesLipopeptidesMiceCandida albicansmedicineTLR2host-pathogen interactionsMacrophageAnimalsProgenitor cellCandida albicansinnate immunityInnate immune systemMacrophagesCandidiasisCell Differentiationbiology.organism_classificationmedicine.diseaseHematopoietic Stem CellsToll-Like Receptor 2Haematopoiesis030104 developmental biologyInfectious DiseasesCytokineImmunologySystemic candidiasisEx vivoSpleenFrontiers in cellular and infection microbiology
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Loss of HER2 and decreased T-DM1 efficacy in HER2 positive advanced breast cancer treated with dual HER2 blockade: the SePHER Study

2020

AbstractBackgroundHER2-targeting agents have dramatically changed the therapeutic landscape of HER2+ advanced breast cancer (ABC). Within a short time frame, the rapid introduction of new therapeutics has led to the approval of pertuzumab combined with trastuzumab and a taxane in first-line, and trastuzumab emtansine (T-DM1) in second-line. Thereby, evidence of T-DM1 efficacy following trastuzumab/pertuzumab combination is limited, with data from some retrospective reports suggesting lower activity. The purpose of the present study is to investigate T-DM1 efficacy in pertuzumab-pretreated and pertuzumab naïve HER2 positive ABC patients. We also aimed to provide evidence on the exposure to d…

0301 basic medicineOncologyCancer ResearchReceptor ErbB-2ApoptosisAdo-Trastuzumab EmtansineSettore MED/06chemistry.chemical_compound0302 clinical medicineTrastuzumabAntineoplastic Combined Chemotherapy ProtocolsTumor Cells Culturedskin and connective tissue diseasesAged 80 and overMiddle Agedlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensPrognosisGene Expression Regulation NeoplasticSurvival RateOncology030220 oncology & carcinogenesisFemalePertuzumabmedicine.drugT-DM1 efficacymusculoskeletal diseasesAdultmedicine.medical_specialtyHER2+ breast cancer; Trastuzumab/pertuzumab blockade; T-DM1 efficacyBreast NeoplasmsAntibodies Monoclonal Humanizedlcsh:RC254-28203 medical and health sciencesSettore MED/04 - PATOLOGIA GENERALEInternal medicinemedicineBiomarkers TumorHumansneoplasmsAgedCell ProliferationRetrospective StudiesHER2+ breast cancer; T-DM1 efficacy; Trastuzumab/pertuzumab blockadeTaxanebusiness.industryResearchCancerHER2+ breast cancerTrastuzumabmedicine.diseaseTrastuzumab/pertuzumab blockadeBlockadeLog-rank test030104 developmental biologychemistryTrastuzumab emtansineCancer cellbusiness
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The prognostic relevance of HER2-positivity gain in metastatic breast cancer in the ChangeHER trial

2021

Breast cancer (BC) heterogeneity is composite in nature, with a wide variety of factors concurring to define several pathological entities, which differ by clinical presentation, pathologic features, therapy administered, and inherent outcomes1. Additional sources of breast cancer heterogeneity may raise during the disease course. In BC patients whose disease was initially diagnosed in the early stage and subsequently progressed with metastatic involvement of one single or multiple site/s, the molecular characteristics of metastatic lesions do not necessary mimic those of the disease initially diagnosed. A well-depicted molecular landscape is crucial for subtype definition, prognostic evalu…

0301 basic medicineOncologyCancer therapyReceptor ErbB-2medicine.medical_treatmentAdo-Trastuzumab Emtansineprogesterone receptorSettore MED/060302 clinical medicinehuman epidermal growth factor receptor 2 (HER2)Antineoplastic Combined Chemotherapy ProtocolsestrogenNeoplasm Metastasisskin and connective tissue diseasesMultidisciplinaryBrain NeoplasmsQRMiddle AgedPrognosisMetastatic breast cancerNeoplasm Metastasi030220 oncology & carcinogenesisMedicineFemalePertuzumabmetastatic breast cancerReceptors ProgesteroneBreast NeoplasmHER2 positivitymedicine.drugHumanAdultmedicine.medical_specialtymedicine.drug_classSciencetrastuzumab-emtansineBreast Neoplasmsmetastatic breast cancer; HER2 positivity; cancerArticleDisease-Free SurvivalBrain Neoplasm03 medical and health sciencesBreast cancerbreast cancerSettore MED/04 - PATOLOGIA GENERALEpertuzumabInternal medicineProgesterone receptormedicineHumanscancerbreast cancer; human epidermal growth factor receptor 2 (HER2); pertuzumab; trastuzumab-emtansine; estrogen; progesterone receptorneoplasmsAgedChemotherapyAntineoplastic Combined Chemotherapy Protocolbusiness.industryCancermedicine.diseaseHER2-positiveBreast cancer; oncology; radiotherapy; chemotherapy; HER2Radiation therapy030104 developmental biologyEstrogenbusinessprognostic relevance
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A retrospective multicentric observational study of trastuzumab emtansine in HER2 positive metastatic breast cancer: A real-world experience

2017

We addressed trastuzumab emtansine (T-DM1) efficacy in HER2+ metastatic breast cancer patients treated in real-world practice, and its activity in pertuzumab-pretreated patients. We conducted a retrospective, observational study involving 23 cancer centres, and 250 patients. Survival data were analyzed by Kaplan Meier curves and log rank test. Factors testing significant in univariate analysis were tested in multivariate models. Median follow-up was 15 months and median T-DM1 treatment-length 4 months. Response rate was 41.6%, clinical benefit 60.9%. Median progression-free and median overall survival were 6 and 20 months, respectively. Overall, no differences emerged by pertuzumab pretreat…

0301 basic medicineOncologyHER2 positivereal-worldmedicine.medical_specialtyHER2 positive; T-DM1; metastatic breast cancer; previous pertuzumab; real-worldHER2 positive; Metastatic breast cancer; Previous pertuzumab; Real-world; T-DM1; OncologyT-DM1Previous pertuzumabHER2 positive; metastatic breast cancer; previous pertuzumab; real-world; T-DM1; oncologyECOG Performance Statuslaw.invention03 medical and health scienceschemistry.chemical_compound0302 clinical medicineRandomized controlled trialSettore MED/04 - PATOLOGIA GENERALElawInternal medicineMedicineUnivariate analysisSettore MED/06 - ONCOLOGIA MEDICAbusiness.industryCancerprevious pertuzumabmedicine.diseaseMetastatic breast cancerMetastatic breast cancerHER2 positive; Metastatic breast cancer; Previous pertuzumab; Real-world; T-DM1Log-rank testtrastuzumab030104 developmental biologyOncologychemistryReal-worldTrastuzumab emtansine030220 oncology & carcinogenesisHER2 positive Metastatic breast cancer Previous pertuzumab Real-world T-DM1 Oncologymetastatic breast cancerPertuzumabbusinessmedicine.drugResearch Paper
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