Search results for "Germ"

showing 10 items of 3358 documents

Genome-wide profiling of non-smoking-related lung cancer cells reveals common RB1 rearrangements associated with histopathologic transformation in EG…

2020

The etiology and the molecular basis of lung adenocarcinomas (LuADs) in nonsmokers are currently unknown. Furthermore, the scarcity of available primary cultures continues to hamper our biological understanding of non-smoking-related lung adenocarcinomas (NSK-LuADs). We established patient-derived cancer cell (PDC) cultures from metastatic NSK-LuADs, including two pairs of matched EGFR-mutant PDCs before and after resistance to tyrosine kinase inhibitors (TKIs), and then performed whole-exome and RNA sequencing to delineate their genomic architecture. For validation, we analyzed independent cohorts of primary LuADs. In addition to known non-smoker-associated alterations (e.g. RET, ALK, EGFR…

0301 basic medicineLung NeoplasmsEGFRUbiquitin-Protein LigasesAdenocarcinoma of Lungmedicine.disease_cause03 medical and health sciences0302 clinical medicineGermline mutationtyrosine kinase inhibitorsmedicineGenetic predispositionHumanswhole-exome sequencingLung cancerGeneProtein Kinase InhibitorsExome sequencingMutationbusiness.industryEGFR RB1 lung adenocarcinoma nonsmokers tyrosine kinase inhibitors whole-exome sequencingHematologyrespiratory systemmedicine.diseaselung adenocarcinomadigestive system diseasesrespiratory tract diseasesErbB ReceptorsRetinoblastoma Binding Proteins030104 developmental biologyOncologyDrug Resistance Neoplasm030220 oncology & carcinogenesisCancer cellMutationCancer researchbusinessRB1Tyrosine kinaseMicrotubule-Associated Proteinsnonsmokers
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Quantity language speakers show enhanced subcortical processing

2016

Abstract The complex auditory brainstem response (cABR) can reflect language-based plasticity in subcortical stages of auditory processing. It is sensitive to differences between language groups as well as stimulus properties, e.g. intensity or frequency. It is also sensitive to the synchronicity of the neural population stimulated by sound, which results in increased amplitude of wave V. Finnish is a full-fledged quantity language, in which word meaning is dependent upon duration of the vowels and consonants. Previous studies have shown that Finnish speakers have enhanced behavioural sound duration discrimination ability and larger cortical mismatch negativity (MMN) to duration change comp…

0301 basic medicineMale6162 Cognitive scienceTime FactorsFinnish languageMismatch negativityNeural populationAudiologyGerman0302 clinical medicineWord meaningGermanyquantity languageFinlandLanguageGeneral NeuroscienceElectroencephalographyNeuropsychology and Physiological Psychologyta6131languageSpeech Perceptionbehavior and behavior mechanismsQuantity languageFemalePsychologypsychological phenomena and processesAdultmedicine.medical_specialtysuomen kieli515 PsychologyNeuroscience(all)educationStimulus (physiology)Nonmusiciansta3112behavioral disciplines and activities03 medical and health sciences6161 PhoneticsmedicineEvoked Potentials Auditory Brain StemDuration processingHumansFinnish languageCommunicationbusiness.industrycABRlanguage.human_language030104 developmental biologyAuditory brainstem responsenonmusiciansduration processingbusiness030217 neurology & neurosurgery
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Germinal Centers Determine the Prognostic Relevance of Tertiary Lymphoid Structures and Are Impaired by Corticosteroids in Lung Squamous Cell Carcino…

2018

Abstract In solid tumors, the presence of lymph node–like structures called tertiary lymphoid structures (TLS) is associated with improved patient survival. However, little is known about how TLS develop in cancer, how their function affects survival, and whether they are affected by cancer therapy. In this study, we used multispectral microscopy, quantitative pathology, and gene expression profiling to analyze TLS formation in human lung squamous cell carcinoma (LSCC) and in an experimental model of lung TLS induction. We identified a niche of CXCL13+ perivascular and CXCL12+LTB+ and PD-L1+ epithelial cells supporting TLS formation. We also characterized sequential stages of TLS maturation…

0301 basic medicineMaleCancer ResearchLung Neoplasmsmedicine.medical_treatmentApoptosis03 medical and health sciencesMiceLymphocytes Tumor-InfiltratingAdrenal Cortex HormonesCarcinoma Non-Small-Cell LungAntineoplastic Combined Chemotherapy ProtocolsCarcinomaTumor Cells CulturedTumor MicroenvironmentMedicineAnimalsHumansCXCL13Lung cancerSurvival rateAgedCell ProliferationChemotherapyTumor microenvironmentbusiness.industryGene Expression ProfilingCancerGerminal centerMiddle Agedmedicine.diseaseGerminal CenterPrognosisXenograft Model Antitumor Assays3. Good healthMice Inbred C57BLSurvival Rate030104 developmental biologyTertiary Lymphoid StructuresOncologyCancer researchCarcinoma Squamous CellFemalebusinessFollow-Up StudiesCancer research
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Exome-wide somatic mutation characterization of small bowel adenocarcinoma

2018

Small bowel adenocarcinoma (SBA) is an aggressive disease with limited treatment options. Despite previous studies, its molecular genetic background has remained somewhat elusive. To comprehensively characterize the mutational landscape of this tumor type, and to identify possible targets of treatment, we conducted the first large exome sequencing study on a population-based set of SBA samples from all three small bowel segments. Archival tissue from 106 primary tumors with appropriate clinical information were available for exome sequencing from a patient series consisting of a majority of confirmed SBA cases diagnosed in Finland between the years 2003–2011. Paired-end exome sequencing was…

0301 basic medicineMaleCancer ResearchMICROSATELLITE INSTABILITYColorectal canceroncogenesReceptor ErbB-2medicine.disease_causeCOLORECTAL-CANCERACTIVATIONCohort Studies0302 clinical medicineAnimal CellsAdenocarcinomasMedicine and Health SciencesExomeFrameshift MutationExomeGenetics (clinical)Exome sequencingAged 80 and overSMALL-INTESTINEeducation.field_of_study1184 Genetics developmental biology physiologyCELIAC-DISEASENonsense MutationMiddle Aged3. Good healthsyöpägeenitOncology030220 oncology & carcinogenesissyöpätauditFemaleSIGNALING PATHWAYKRASCellular TypesResearch ArticleAdultProto-Oncogene Proteins B-raflcsh:QH426-470SEQUENCING DATAImmune CellsNonsense mutationPopulationImmunologyAntigen-Presenting CellsComputational biologysuolistosyövätBiologyAdenocarcinomata3111CarcinomasFrameshift mutation03 medical and health sciencesGermline mutationQUALITY-CONTROLGenetiikka kehitysbiologia fysiologia - Genetics developmental biology physiologySyöpätaudit - CancersIntestinal NeoplasmsmedicineGeneticsPoint MutationHumanseducationMolecular BiologyEcology Evolution Behavior and SystematicsAgedColorectal CancerBiology and Life SciencesCancers and Neoplasmscancerous diseasesCell Biologymedicine.diseaseta3122mutationsCOMPREHENSIVE MOLECULAR CHARACTERIZATIONlcsh:Genetics030104 developmental biologyMutationSomatic Mutationbowel cancer3111 BiomedicinemutaatiotHIGH-RESOLUTIONPLoS Genetics
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A phase I dose-escalation study of IMAB362 (Zolbetuximab) in patients with advanced gastric and gastro-oesophageal junction cancer

2018

Introduction IMAB362 (Zolbetuximab) is a chimeric monoclonal antibody that binds to Claudin-18.2, a target antigen specific to cancer cells. In vitro, IMAB362 mediates cell death through antibody-dependent cellular cytotoxicity and complement-dependent cytotoxicity; thus, IMAB362 may serve as a potent, targeted immunotherapeutic agent. Methods This first-in-human phase I study enroled adult patients (N = 15) with advanced gastric or gastro-oesophageal junction cancer into five sequential single dose-escalation cohorts (33, 100, 300, 600, and 1000 mg/m2) following a 3 + 3 design. Safety/tolerability, including determination of maximum tolerated dose and recommended phase II dose, were the pr…

0301 basic medicineMaleCancer Researchmedicine.medical_specialtyTime FactorsEsophageal NeoplasmsMaximum Tolerated Dosemedicine.medical_treatmentMedizinGastroenterologyAntibodies Monoclonal/administration & dosage03 medical and health sciences0302 clinical medicineAntineoplastic Agents ImmunologicalPharmacokineticsAntineoplastic Agents Immunological/administration & dosageStomach NeoplasmsInternal medicineGermanymedicineHumansDrug Dosage CalculationsAdverse effectInfusions IntravenousAgedbusiness.industryCancerAntibodies MonoclonalEsophagogastric Junction/drug effectsImmunotherapyMiddle Agedmedicine.diseaseLatviaddc:030104 developmental biologyTreatment OutcomeOncologyTolerabilityResponse Evaluation Criteria in Solid Tumors030220 oncology & carcinogenesisToxicityDisease ProgressionFemaleStomach Neoplasms/drug therapyEsophagogastric JunctionEsophageal Neoplasms/drug therapybusinessProgressive disease
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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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Gut Microbiota Restricts NETosis in Acute Mesenteric Ischemia-Reperfusion Injury.

2020

Objective: Recruitment of neutrophils and formation of neutrophil extracellular traps (NETs) contribute to lethality in acute mesenteric infarction. To study the impact of the gut microbiota in acute mesenteric infarction, we used gnotobiotic mouse models to investigate whether gut commensals prime the reactivity of neutrophils towards formation of neutrophil extracellular traps (NETosis). Approach and Results: We applied a mesenteric ischemia-reperfusion (I/R) injury model to germ-free (GF) and colonized C57BL/6J mice. By intravital imaging, we quantified leukocyte adherence and NET formation in I/R-injured mesenteric venules. Colonization with gut microbiota or monocolonization with Esch…

0301 basic medicineMaleExtracellular TrapsMesenteric infarctionLipopolysaccharideNeutrophilsGut floraExtracellular Traps03 medical and health scienceschemistry.chemical_compound0302 clinical medicineAcute mesenteric ischemiaVenulesmedicineCell AdhesionEscherichia coliLeukocytesAnimalsGerm-Free LifeLeukocyte RollingMesenteryCells CulturedMice Knockoutbiologybusiness.industryNeutrophil extracellular trapsbiology.organism_classificationmedicine.diseaseGastrointestinal MicrobiomeMice Inbred C57BLToll-Like Receptor 4Disease Models Animal030104 developmental biologychemistryNeutrophil Infiltration030220 oncology & carcinogenesisMesenteric IschemiaReperfusion InjuryImmunologyHost-Pathogen InteractionsFemaleCardiology and Cardiovascular MedicinebusinessReperfusion injuryBacillus subtilisSignal TransductionArteriosclerosis, thrombosis, and vascular biology
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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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Hereditary prostate cancer – Primetime for genetic testing?

2019

Prostate cancer (PCa) remains the most common cancer in men. The proportion of all PCa attributable to high-risk hereditary factors has been estimated to 5-15%. Recent landmark discoveries in PCa genetics led to the identification of germline mutations/alterations (eg. BRCA1, BRCA2, ATM or HOXB13), single nucleotide polymorphisms or copy number variations associated with PCa incidence and progression. However, offering germline testing to men with an assumed hereditary component is currently controversial. In the present review article, we provide an overview about the epidemiology and the genetic basis of PCa predisposition and critically discuss the significance and consequence in the cli…

0301 basic medicineMaleGenetic testingDNA Copy Number VariationsGenome-wide association studySingle-nucleotide polymorphismDiseaseBioinformaticsPolymorphism Single Nucleotide03 medical and health sciencesProstate cancer0302 clinical medicineGermline mutationMedicineHumansRadiology Nuclear Medicine and imagingGenetic Predisposition to DiseaseCopy-number variationGenetic TestingPrecision MedicineGenetic testingBRCA2 ProteinHomeodomain ProteinsClinical Trials as TopicProstate cancermedicine.diagnostic_testbusiness.industryBRCA1 ProteinCancerProstatic NeoplasmsPrecision oncologyGeneral Medicinemedicine.diseaseCheckpoint Kinase 2030104 developmental biologyHereditaryOncology030220 oncology & carcinogenesisMutationbusiness
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De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

2019

Contains fulltext : 202646.pdf (Publisher’s version ) (Open Access) By using exome sequencing and a gene matching approach, we identified de novo and inherited pathogenic variants in KDM3B in 14 unrelated individuals and three affected parents with varying degrees of intellectual disability (ID) or developmental delay (DD) and short stature. The individuals share additional phenotypic features that include feeding difficulties in infancy, joint hypermobility, and characteristic facial features such as a wide mouth, a pointed chin, long ears, and a low columella. Notably, two individuals developed cancer, acute myeloid leukemia and Hodgkin lymphoma, in childhood. KDM3B encodes for a histone …

0301 basic medicineMaleJumonji Domain-Containing Histone DemethylasesDevelopmental DisabilitiesWEAVER SYNDROMEPROTEINHaploinsufficiencyCraniofacial AbnormalitiesHistones0302 clinical medicineIntellectual disabilityTumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14]Missense mutationDEMETHYLASE KDM3BExomeChildGenetics (clinical)Exome sequencingGeneticsRUBINSTEIN-TAYBI SYNDROMEMetabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]Phenotype030220 oncology & carcinogenesisFemalemedicine.symptomHaploinsufficiencyRare cancers Radboud Institute for Health Sciences [Radboudumc 9]Joint hypermobilityGENETICSJMJD1CMutation MissenseDwarfismBiologyShort statureKdm3b ; Cancer Predisposition ; Developmental Delay ; Facial Recognition ; Intellectual Disability ; Leukemia ; Lymphoma ; Short Stature03 medical and health sciencesReportIntellectual DisabilitymedicineHumansMYELOID-LEUKEMIAGenetic Association StudiesGerm-Line MutationWeaver syndromeNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Rubinstein–Taybi syndromeMUTATIONSDELETIONGenetic Variationmedicine.diseaseBody HeightMusculoskeletal AbnormalitiesINDIVIDUALS030104 developmental biologyFaceNanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]American Journal of Human Genetics
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