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showing 10 items of 12187 documents

Genomic and functional gene studies suggest a key role of beta-carotene oxygenase 1 like (bco1l) gene in salmon flesh color

2019

AbstractRed coloration of muscle tissue (flesh) is a unique trait in several salmonid genera, including Atlantic salmon. The color results from dietary carotenoids deposited in the flesh, whereas the color intensity is affected both by diet and genetic components. Herein we report on a genome-wide association study (GWAS) to identify genetic variation underlying this trait. Two SNPs on ssa26 showed strong associations to the flesh color in salmon. Two genes known to be involved in carotenoid metabolism were located in this QTL- region: beta-carotene oxygenase 1 (bco1) and beta-carotene oxygenase 1 like (bco1l). To determine whether flesh color variation is caused by one, or both, of these g…

0301 basic medicineOxygenasegenetic structuresQuantitative Trait LociSalmo salarPopulationlcsh:MedicineGenome-wide association studySingle-nucleotide polymorphismQuantitative trait locusBiologyArticle03 medical and health sciencesstomatognathic systemGenetic variationAnimalsVDP::Landbruks- og Fiskerifag: 900::Fiskerifag: 920::Fiskehelse: 923lcsh:ScienceeducationCarotenoidGenebeta-Carotene 1515'-Monooxygenasechemistry.chemical_classificationGeneticseducation.field_of_studyMultidisciplinary030102 biochemistry & molecular biologyPigmentationEukaryoteFleshlcsh:Rfood and beveragesGenomicsbeta CaroteneEnzymes030104 developmental biologychemistrylcsh:QGenome-Wide Association Study
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Promises and Pitfalls in the Use of PD-1/PD-L1 Inhibitors in Multiple Myeloma

2018

In the biology of multiple myeloma (MM), immune dysregulation has emerged as a critical component for novel therapeutic strategies. This dysfunction is due to a reduced antigen presentation, a reduced effector cell ability and a loss of reactive T cells against myeloma, together with a bone marrow microenvironment that favors immune escape. The Programmed Death-1 (PD-1) pathway is associated with the regulation of T cell activation and with the apoptotic pathways of effector memory T cells. Specifically, the binding with PD-1 ligand (PD-L1) on the surface of tumor plasma cells down-regulates T cell-proliferation, thus contributing to the immune escape of tumor cells. In relapsed and/or refr…

0301 basic medicinePD-L1lcsh:Immunologic diseases. AllergyDurvalumabMini ReviewT-LymphocytesT cellProgrammed Cell Death 1 ReceptorImmunologyAntigen presentationT cellsPembrolizumabmedicine.disease_causeB7-H1 Antigen03 medical and health sciences0302 clinical medicineBone Marrowimmune dysregulationPD-L1PD-1Tumor MicroenvironmentmedicineAnimalsHumansImmunology and AllergyImmune dysregulation; Multiple myeloma; PD-1; PD-L1; T cells; Animals; B7-H1 Antigen; Bone Marrow; Humans; Multiple Myeloma; Programmed Cell Death 1 Receptor; T-Lymphocytes; Tumor MicroenvironmentMultiple myelomabiologybusiness.industryImmune dysregulationmedicine.diseasemultiple myeloma030104 developmental biologymedicine.anatomical_structure030220 oncology & carcinogenesisbiology.proteinCancer researchNivolumabbusinesslcsh:RC581-607Frontiers in Immunology
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A Stat6/Pten Axis Links Regulatory T Cells with Adipose Tissue Function

2017

Obesity and type 2 diabetes are associated with metabolic defects and adipose tissue inflammation. Foxp3(+) regulatory T cells (Tregs) control tissue homeostasis by counteracting local inflammation. However, if and how T cells interlink environmental influences with adipocyte function remains unknown. Here, we report that enhancing sympathetic tone by cold exposure, beta3-adrenergic receptor (ADRB3) stimulation or a short-term high-calorie diet enhances Treg induction in vitro and in vivo. CD4(+) T cell proteomes revealed higher expression of Foxp3 regulatory networks in response to cold or ADRB3 stimulation in vivo reflecting Treg induction. Specifically, Ragulator-interacting protein C17o…

0301 basic medicinePTENProteomePhysiologyAdipose tissueStimulationmTORC1Diet induced thermogenesisBorcs6 ; C17orf59 ; Foxp3 ; Pten ; Stat6 ; T Cells ; Tregs ; Adipose Tissue Function ; Cold Exposure ; Metabolic Function ; Metabolism ; Regulatory T cellsT-Lymphocytes Regulatorychemistry.chemical_compound0302 clinical medicineAdipose Tissue BrownAdipocyteUncoupling Protein 1Tissue homeostasisSTAT6ddc:616Mice Inbred BALB CFOXP3Forkhead Transcription Factorshemic and immune systemsRegulatory T cellsCell biologyCold TemperatureFoxp3FemaleMetabolic functionmedicine.symptomSignal TransductionBorcs6Adipose Tissue WhiteCold exposureT cellsTregschemical and pharmacologic phenomenaInflammationBiologyArticle03 medical and health sciencesReceptors Adrenergic betaAdipose tissue functionmedicineAnimalsC17orf59Molecular BiologyPTEN PhosphohydrolaseCell BiologyMetabolism030104 developmental biologychemistryImmunologySTAT6 Transcription Factor030217 neurology & neurosurgeryCell Metabolism
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Intestinal dysbiosis and innate immune responses in axial spondyloarthritis

2016

Purpose of review Inflammatory innate and adaptive immune cell responses to commensal bacteria underlie the pathogenesis of human chronic inflammatory diseases. Intestinal dysbiosis has been described in patients with spondyloarthritis (SpA) and seems to be correlated with histologic and immunologic alterations. Purpose of this review is to discuss the relationship occurring between intestinal dysbiosis and innate immune responses in patients with axial SpA. Recent findings Intestinal dysbiosis and differential activation of intestinal immune responses in patients with SpA have been demonstrated. Furthermore, innate cells that appear to be involved in the pathogenesis of SpA may control int…

0301 basic medicinePathogenesis03 medical and health sciences0302 clinical medicineImmune systemRheumatologyImmunityIL-23dysbiosis; gut inflammation; IL-17; IL-23; IL-9; innate lymphoid cells; spondyloarthritis; RheumatologySpondylarthritisInterleukin 23MedicineHumansspondyloarthriti030203 arthritis & rheumatologyInnate immune systemBacteriabusiness.industrydysbiosiInnate lymphoid cellmedicine.diseaseIL-9Immunity InnateGastrointestinal MicrobiomeIntestinesIL-17030104 developmental biologyImmunologyinnate lymphoid cellDysbiosisInterleukin 17gut inflammationbusinessDysbiosis
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Exosomal miRNA analysis in Non-Small Cell Lung Cancer (NSCLC) patients' plasma through qPCR : a feasible liquid biopsy tool

2016

Abstract: The discovery of alterations in the EGFR and ALK genes, amongst others, in NSCLC has driven the development of targeted-drug therapy using selective tyrosine kinase inhibitors (TKIs). To optimize the use of these TKIs, the discovery of new biomarkers for early detection and disease progression is mandatory. These plasma-isolated exosomes can be used as a non-invasive and repeatable way for the detection and followup of these biomarkers. One ml of plasma from 12 NSCLC patients, with different mutations and treatments (and 6 healthy donors as controls), were used as exosome sources. After RNAse treatment, in order to degrade circulating miRNAs, the exosomes were isolated with a comm…

0301 basic medicinePathologyLung NeoplasmsImmunology and Microbiology (all)General Chemical EngineeringBiopsynon-small cell lung cancer (NSCLC)NSCLCExosomes0302 clinical medicineCarcinoma Non-Small-Cell LungChemical Engineering (all)CancerGeneral NeuroscienceMicroRNAReal-time polymerase chain reaction030220 oncology & carcinogenesisBiomarker (medicine)MedicineEndopeptidase KCase-Control StudieEngineering sciences. TechnologyHumanmedicine.medical_specialtyReal-Time Polymerase Chain ReactionExosomeGeneral Biochemistry Genetics and Molecular BiologyRibonucleaseIssue 11103 medical and health sciencesRibonucleasesmicroRNAmedicineBiomarkers TumorHumansLiquid biopsymiRNANeuroscience (all)Biochemistry Genetics and Molecular Biology (all)Liquid biopsyGeneral Immunology and Microbiologybusiness.industryCancerBiomarkermedicine.diseaseMicrovesiclesExosomeLung NeoplasmMicroRNAs030104 developmental biologyCase-Control StudiesCancer researchReagent Kits DiagnosticbusinessJournal of visualized experiments
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Pulmonary Adenocarcinoma With Enteric Differentiation: Immunohistochemistry and Molecular Morphology

2018

Pulmonary adenocarcinoma with enteric differentiation (PAED) is a rare subtype of lung adenocarcinoma recently recognized in the WHO classification. It is defined as an adenocarcinoma in which the enteric component exceeds 50% and have to show the expression of at least 1 immunohistochemical marker of enteric differentiation. Although the definition of this tumor type is very important, above all in the differential diagnosis between a primary lung tumor and a metastasis of colorectal adenocarcinoma, this cancer still lacks a distinctive immunohistochemical and molecular signature. We recruited the largest series in the literature of PAEDs according to the morphology and the positivity for …

0301 basic medicinePathologymedicine.medical_specialtyLung NeoplasmsHistologyintestinal-type adenocarcinomaCellular differentiationDNA Mutational AnalysisThyroid Nuclear Factor 1AdenocarcinomaBiologymedicine.disease_causePathology and Forensic MedicineMetastasisDiagnosis DifferentialProto-Oncogene Proteins p21(ras)03 medical and health sciences0302 clinical medicineKRASBiomarkers TumormedicineHumansCDX2 Transcription FactorPathology Molecularenteric lung adenocarcinoma intestinal-type adenocarcinoma CDX-2 CDX2 KRASLungKeratin-7entericCancerCell DifferentiationPulmonary adenocarcinoma with enteric differentiation (PAED)lung adenocarcinomamedicine.diseaseCDX-2ImmunohistochemistryMedical Laboratory Technology030104 developmental biologymedicine.anatomical_structureCDX2Alveolar Epithelial Cells030220 oncology & carcinogenesisMutationAdenocarcinomaImmunohistochemistryKRASDifferential diagnosisColorectal Neoplasms
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Irreversible changes occurring in long-term denervated Schwann cells affect delayed nerve repair.

2017

OBJECTIVEMultiple factors may affect functional recovery after peripheral nerve injury, among them the lesion site and the interval between the injury and the surgical repair. When the nerve segment distal to the lesion site undergoes chronic degeneration, the ensuing regeneration (when allowed) is often poor. The aims of the current study were as follows: 1) to examine the expression changes of the neuregulin 1/ErbB system during long-term nerve degeneration; and 2) to investigate whether a chronically denervated distal nerve stump can sustain nerve regeneration of freshly axotomized axons.METHODSThis study used a rat surgical model of delayed nerve repair consisting of a cross suture betw…

0301 basic medicinePathologymedicine.medical_specialtyTime FactorsNerve rootNeuregulin-1Settore MED/19 - Chirurgia PlasticaSchwann cellNRG1/ErbB system03 medical and health sciences0302 clinical medicinePeripheral Nerve InjuriesMedicineAnimalsNeuregulin 1Rats Wistardelayed nerve repairDenervationneuregulin 1biologybusiness.industryRegeneration (biology)General MedicineAnatomyRecovery of FunctionDenervationMedian nerveNerve RegenerationRats030104 developmental biologymedicine.anatomical_structureperipheral nervePeripheral nerve injuryNerve Degenerationstereologybiology.proteinFemaleSchwann CellsbusinessEpineurial repair030217 neurology & neurosurgeryJournal of neurosurgery
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NF1 microdeletion syndrome: case report of two new patients

2019

Abstract Background 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype than the NF1 general population. Case presentation We hereby describe the clinical and molecular features of two girls (aged 2 and 4 years, respectively), with non-mosaic atypical deletions. Patient 1 showed fifteen café-au-lait spots and axillary freckling, as well as a Lisch nodule in the left eye, strabismus, high-arched palate, malocclusion, severe kyphoscoliosis, bilateral calcaneovalgus fo…

0301 basic medicinePathologymedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesGenotype-phenotype correlationNeurofibromatosesLisch noduleContiguous gene syndromePopulationCase ReportContiguous gene syndromeChromosomesCraniofacial Abnormalities03 medical and health sciences0302 clinical medicineAtypical deletionIntellectual DisabilitymedicineHumansMultiplex ligation-dependent probe amplificationNeurofibromatosiseducationChildPreschoolNeurofibromatoseseducation.field_of_studybusiness.industryLearning DisabilitiesPair 17lcsh:RJ1-570Axillary frecklinglcsh:Pediatricsmedicine.diseaseeye diseasesMLPA030104 developmental biologyNF1 geneChild PreschoolFemalemedicine.symptomChromosome DeletionbusinessAtypical deletion; Contiguous gene syndrome; Genotype-phenotype correlation; MLPA; NF1 gene; Child Preschool; Chromosome Deletion; Chromosomes Human Pair 17; Craniofacial Abnormalities; Female; Humans; Intellectual Disability; Learning Disabilities; Neurofibromatoses030217 neurology & neurosurgeryChromosomes Human Pair 17Comparative genomic hybridizationHumanItalian Journal of Pediatrics
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Oxidative Stress and Endoplasmic Reticulum Stress in Rare Respiratory Diseases

2021

Several studies have shown that some rare respiratory diseases, such as alpha-1 antitrypsin deficiency (AATD), idiopathic pulmonary fibrosis (IPF), cystic fibrosis (CF), and primary ciliary dyskinesia (PCD) present oxidative stress (OS) and endoplasmic reticulum (ER) stress. Their involvement in these pathologies and the use of antioxidants as therapeutic agents to minimize the effects of OS are discussed in this review.

0301 basic medicinePathologymedicine.medical_specialtylcsh:Medicineprimary ciliary dyskinesiaReviewrare respiratory diseasesmedicine.disease_causeCystic fibrosiscystic fibrosis03 medical and health sciencesIdiopathic pulmonary fibrosis0302 clinical medicineotorhinolaryngologic diseasesmedicineoxidative stressRespiratory systemPrimary ciliary dyskinesiaAlpha 1-antitrypsin deficiencybusiness.industryEndoplasmic reticulumlcsh:RGeneral Medicineidiopathic pulmonary fibrosismedicine.diseaserespiratory tract diseases030104 developmental biologyAlpha-1 antitrypsin deficiency030220 oncology & carcinogenesisendoplasmic reticulum stressantioxidant therapiesbusinessOxidative stressJournal of Clinical Medicine
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MiR-675-5p supports hypoxia induced epithelial to mesenchymal transition in colon cancer cells

2017

// Viviana Costa 1, * , Alessia Lo Dico 2, * , Aroldo Rizzo 3 , Francesca Rajata 3 , Marco Tripodi 4, 5 , Riccardo Alessandro 6, 7, * , Alice Conigliaro 4, * 1 Innovative Technological Platforms for Tissue Engineering, Theranostic and Oncology, Rizzoli Orthopedic Institute, Palermo, Italy 2 Department of Pathophysiology and Transplantation, Universita degli Studi di Milano, Milano, Italy 3 Unita Operativa di Anatomia Patologica, Azienda Ospedaliera Ospedali Riuniti “Villa Sofia-Cervello”, Palermo, Italy 4 Dipartimento di Biotecnologie Cellulari ed Ematologia, Sapienza University of Rome, Rome, Italy 5 National Institute for Infectious Diseases L. Spallanzani, IRCCS, Rome, Italy 6 Dipartimen…

0301 basic medicinePathologymedicine.medical_specialtymiRNA675Epithelial-Mesenchymal TransitionTranscription GeneticColorectal cancerDown-RegulationMetastasiMetastasis03 medical and health sciences0302 clinical medicineGliomaCell Line TumormedicinemetastasisHumansEpithelial–mesenchymal transitionNeoplasm MetastasisLymph nodeMetastatic colon cancerCRC; EMT; Hypoxia; Metastasis; MiRNA675; Oncologybusiness.industryhypoxiaEMTHypoxia (medical)medicine.diseaseHypoxia-Inducible Factor 1 alpha SubunitCell HypoxiaCRCTransplantationDNA-Binding ProteinsMicroRNAs030104 developmental biologymedicine.anatomical_structureOncology030220 oncology & carcinogenesisColonic NeoplasmsCancer researchmedicine.symptombusinessResearch Paper
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