Search results for "B1"

showing 10 items of 1109 documents

Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer

2018

Microsatellite instability (MSI) leads to accumulation of an excessive number of mutations in the genome, mostly small insertions and deletions. MSI colorectal cancers (CRCs), however, also contain more point mutations than microsatellite-stable (MSS) tumors, yet they have not been as comprehensively studied. To identify candidate driver genes affected by point mutations in MSI CRC, we ranked genes based on mutation significance while correcting for replication timing and gene expression utilizing an algorithm, MutSigCV. Somatic point mutation data from the exome kit-targeted area from 24 exome-sequenced sporadic MSI CRCs and respective normals, and 12 whole-genome-sequenced sporadic MSI CR…

0301 basic medicineMedicine (General)Candidate geneclinical evaluationgenetic identificationgenetic analysisQH426-470medicine.disease_causeChromatin Epigenetics Genomics & Functional Genomicswhole exome sequencingddc:590mutator genesingle nucleotide polymorphismddc:576.5Gene Regulatory NetworksExomeExome sequencingCancercancer cellGeneticsMutation1184 Genetics developmental biology physiology3. Good healthgenetic codesyöpägeenitpriority journalMolecular Medicinewild typepoint mutationSystems MedicineColorectal Neoplasmscongenital hereditary and neonatal diseases and abnormalitiesddc:025.063/5703122 Cancerscancer geneticsSingle-nucleotide polymorphismcolorectal cancerBiologygene frequencyta3111mikrosatelliititcolony formationR105W geneArticle03 medical and health sciencesR5-920Gene interactionReportGeneticsmedicineHumanscontrolled studyhumanneoplasmspaksusuolisyöpäPoint mutationgene interactionhuman celltumor-related geneMicrosatellite instabilityMolecular Sequence AnnotationSequence Analysis DNAmedicine.diseaseta3122digestive system diseaseshuman tissueSTK38L gene030104 developmental biologyvalidation processgene expressionSMARCB1 genemicrosatellite instability3111 Biomedicinegene replicationReports
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St. Augustinegrass accessions planted in northern, central and southern Italy: Growth and morphological traits during establishment

2018

The use of warm season turfgrasses is a consolidated trend in the climatic transition zone of Mediterranean countries, in particular St. Augustinegrass (Stenotaphrum secundatum (Walt.) Kuntze) begins to be widespread in warm coastal areas. However, little is known about the performance of the different cultivars of this species in southern Europe. In 2016-2017 a trial was carried out in three locations in Italy, Padova, Pisa, and Palermo, located in the north, center and south of the country respectively. Four cultivars (Floratine, Captiva, Sapphire, Palmetto) and five ecotypes (CeRTES 201, CeRTES 202, CeRTES 203, CeRTES 204, CeRTES 205) were compared in terms of their growth characteristic…

0301 basic medicineMediterranean climateStenotaphrumGreen upBiologylcsh:Plant cultureWarm seasonStenotaphrum secundatumturf quality.lcsh:Agricultureleaf widthGreen up; Ground cover; Internode length; Leaf width; Stenotaphrum secundatum; Turf quality; Agronomy and Crop Science03 medical and health sciencesground coverlcsh:SB1-1110Cultivarturf qualityGreen colourEcotypeStolonlcsh:Sbiology.organism_classificationSettore AGR/02 - Agronomia E Coltivazioni Erbacee030104 developmental biologyAgronomyinternode lengthAgronomy and Crop Science
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Seashore paspalum in the Mediterranean transition zone: phenotypic traits of twelve accessions during and after establishment

2017

The use of warm-season turfgrasses is consolidated in the transitional areas of Mediterranean countries and some field trials have provided information on the adaptability of seashore paspalum to Mediterranean environment. Nonetheless, little is known on the performance of the different commercial cultivars of <em>Paspalum vaginatum</em> in this climatic zone. Furthermore, considering the high degree of variability of this species, ecotypes have the potential to supply new plant material with desired turf characteristics. The research aimed at comparing growth characteristics and morphological traits of eight commercial cultivars of seashore paspalum (Platinum, Salam, SeaDwarf, …

0301 basic medicineMediterranean climateTurfgraTurfgrass.lcsh:Plant cultureNode densityColourlcsh:Agriculture03 medical and health sciencesestablishmentBotanylcsh:SB1-1110CultivarPaspalum vaginatumcolour establishment horizontal stem density node density quality turfgrass.TurfgrassEcotypebiologyStolonlcsh:SSowingPhenotypic traitHorizontal stem densitybiology.organism_classificationSettore AGR/02 - Agronomia E Coltivazioni Erbacee030104 developmental biologyAgronomyAgricultural and Biological Sciences (all)qualityAgronomy and Crop SciencePaspalum
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Psammomatoid Calcification-Rich Oncocytic Thyroid Adenoma With Clear-Cell Change

2018

Abundant calcifications and clear-cell change may occur in oncocytic thyroid adenoma (OTA). We aimed to report the features of a case of OTA peculiar by the presence of extensive calcifications and of a clear-cell component. The OTA was detected on a right thyroid lobectomy specimen. Clear-cell change was observed in 15%-20% of the cells. Numerous, focally confluent psammomatoid calcifications, resulting in macrocalcifications, were identified. The nodule cells, uni- or multinucleated oncocytes, including those with clear cytoplasm, expressed heterogeneously TTF1, S100 protein, Bcl2, CD10, as well as CD138 and CD56. Lipid-droplet markers adipophilin and TIP47 were also expressed. In conclus…

0301 basic medicineMicrobiology (medical)oncocytePathologymedicine.medical_specialtyHistologyAdenomanoduleOncocytePathology and Forensic Medicineclear cellcalcification03 medical and health sciences0302 clinical medicinehemic and lymphatic diseasesmedicinelcsh:PathologyThyroidbusiness.industryThyroid adenomaThyroidNodule (medicine)medicine.diseasepsammomatoid/psammoma-like/pseudo-psammomamitochondria030104 developmental biologymedicine.anatomical_structure030220 oncology & carcinogenesisimmunohistochemistryCommentaryImmunohistochemistryadenomamedicine.symptombusinessClear cellCalcificationlcsh:RB1-214Clinical Pathology
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Bacteriophage-Based Bacterial Wilt Biocontrol for an Environmentally Sustainable Agriculture

2017

Bacterial wilt diseases caused by Ralstonia solanacearum, R. pseudosolanacearum and R. syzygii subsp. indonesiensis (former R. solanacearum species complex) are among the most important plant diseases worldwide, severely affecting a high number of crops and ornamentals. Difficulties of bacterial wilt control by non-biological methods are related to effectiveness, bacterial resistance and environmental impact. Alternatively, a great many biocontrol strategies have been carried out, with the advantage of being environmentally friendly. Advances in bacterial wilt biocontrol include an increasing interest in bacteriophage-based treatments as a promising re-emerging strategy. Bacteriophages agai…

0301 basic medicineMini Review030106 microbiologyBiological pest controlPlant Sciencelcsh:Plant cultureBacteriophage03 medical and health sciencesAntibiotic resistanceLysogenic cycleSustainable agriculturelcsh:SB1-1110lytic phageRalstonia solanacearumbiologytreatmentbusiness.industryBacterial wiltfood and beverageslysogenic phagebiology.organism_classificationBiotechnologyLytic cyclebusinessbiological agentmanagementFrontiers in Plant Science
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Discovery and characterization of two novel CB1 receptor splice variants with modified N-termini in mouse

2017

Numerous studies have been carried out in the mouse model, investigating the role of the CB1 cannabinoid receptor. However, mouse CB1 (mCB1) receptor differs from human CB1 (hCB1) receptor in 13 amino acid residues. Two splice variants, hCB1a and hCB1b, diverging in their amino-termini, have been reported to be unique for hCB1 and, via different signaling properties, contribute to CB1 receptor physiology and pathophysiology. We hypothesized that splice variants also exist for the mCB1 receptor and have different signaling properties. On murine hippocampal cDNA, we identified two novel mCB1 receptor splice variants generated by splicing of introns with 117 bp and 186 bp in the N-terminal dom…

0301 basic medicineMorpholinesRNA SplicingBiologyNaphthalenesBiochemistryHippocampusArticle5-HT7 receptor03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineReceptor Cannabinoid CB1Cannabinoid receptor type 2Enzyme-linked receptorAnimalsHumanssplice5-HT5A receptorRNA MessengerReceptorMice KnockoutNeuronsMolecular biologyBenzoxazinesRetinoic acid receptorAlternative Splicing030104 developmental biologyHEK293 CellsInterleukin-21 receptor030217 neurology & neurosurgeryEndocannabinoidsSignal Transduction
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Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich ataxia

2016

Frataxin (FXN) deficiency causes Friedreich's ataxia (FRDA), a multisystem disorder with neurological and non-neurological symptoms. FRDA pathophysiology combines developmental and degenerative processes of dorsal root ganglia (DRG), sensory nerves, dorsal columns and other central nervous structures. A dying-back mechanism has been proposed to explain the peripheral neuropathy and neuropathology. In addition, affected individuals have non-neuronal symptoms such as diabetes mellitus or glucose intolerance. To go further in the understanding of the pathogenic mechanisms of neuropathy and diabetes associated with the disease, we have investigated the humanized mouse YG8R model of FRDA. By bio…

0301 basic medicineNervous systemAgingPathologylcsh:MedicineMedicine (miscellaneous)Mice0302 clinical medicineImmunology and Microbiology (miscellaneous)Ganglia SpinalInsulin-Secreting CellsInsulin SecretionInsulinMuscle spindleDorsal root gangliaCellular SenescenceDiabetisbiologyMusclesDiabetesAnatomyMitochondria3. Good healthmedicine.anatomical_structureSistema nerviós simpàticDying-back neuropathyPeripheral nervous systemCell senescencemedicine.symptomOxidation-Reductionlcsh:RB1-214Research ArticleSenescencemedicine.medical_specialtyAtaxiaNeuroscience (miscellaneous)Friedreich’s ataxiaNeuropathologyGeneral Biochemistry Genetics and Molecular BiologyPàncreesMalalties del sistema nerviós03 medical and health sciencesPeripheral Nervous Systemlcsh:PathologymedicineAnimalsHumansPancreasIslet of Langerhanslcsh:R302Friedreich's ataxiaNervous system Diseasesmedicine.diseaseAxonsMice Inbred C57BLDisease Models Animal030104 developmental biologyPeripheral neuropathyFriedreich AtaxiaSympathetic nervous systemMutationHumanized mouseFrataxinbiology.proteinEnergy Metabolism030217 neurology & neurosurgeryDisease Models & Mechanisms
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The Action of Di-(2-Ethylhexyl) Phthalate (DEHP) in Mouse Cerebral Cells Involves an Impairment in Aryl Hydrocarbon Receptor (AhR) Signaling

2018

Di-(2-ethylhexyl) phthalate (DEHP) is used as a plasticizer in various plastic compounds, such as polyvinyl chloride (PVC), and products including baby toys, packaging films and sheets, medical tubing, and blood storage bags. Epidemiological data suggest that phthalates increase the risk of the nervous system disorders; however, the impact of DEHP on the brain cells and the mechanisms of its action have not been clarified. The aim of the present study was to investigate the effects of DEHP on production of reactive oxygen species (ROS) and aryl hydrocarbon receptor (AhR), as well as Cyp1a1 and Cyp1b1 mRNA and protein expression in primary mouse cortical neurons and glial cells in the in vit…

0301 basic medicineNervous systemendocrine systemCYP1B1Gene ExpressionNeocortexToxicologyMice03 medical and health scienceschemistry.chemical_compound0302 clinical medicineDiethylhexyl PhthalateGliaCytochrome P-450 CYP1A1medicineAnimalsCyp1a1RNA MessengerCells Culturedchemistry.chemical_classificationNeuronsReactive oxygen speciesMessenger RNADose-Response Relationship DrugbiologyDEHPChemistryGeneral NeuroscienceAhRPhthalateROSrespiratory systemAryl hydrocarbon receptorIn vitroCell biology030104 developmental biologymedicine.anatomical_structureReceptors Aryl HydrocarbonCytochrome P-450 CYP1B1biology.proteinOriginal ArticleSignal transductionReactive Oxygen SpeciesNeuroglia030217 neurology & neurosurgerySignal TransductionNeurotoxicity Research
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Clinical and genetic risk factors define two risk groups of extracranial malignant rhabdoid tumours (eMRT/RTK)

2020

Abstract Introduction Extracranial rhabdoid tumours are rare, highly aggressive malignancies primarily affecting young children. The EU-RHAB registry was initiated in 2009 to prospectively collect data of rhabdoid tumour patients treated according to the EU-RHAB therapeutic framework. Methods We evaluated 100 patients recruited within EU-RHAB (2009–2018). Tumours and matching blood samples were examined for SMARCB1 mutations by sequencing and cytogenetics. Results A total of 70 patients presented with extracranial, extrarenal tumours (eMRT) and 30 with renal rhabdoid tumours (RTK). Nine patients demonstrated synchronous tumours. Distant metastases at diagnosis (M+) were present in 35% (35/1…

0301 basic medicineOncologyMaleCancer Researchmedicine.medical_specialtyAdolescentmedicine.medical_treatmentMedizin03 medical and health sciences0302 clinical medicineRisk groupsGermline mutationRisk FactorsInternal medicinemedicineHumansGenetic riskSMARCB1ChildLymph nodeRhabdoid TumorUnivariate analysisbusiness.industryCytogeneticsInfant NewbornInfantRadiation therapy030104 developmental biologymedicine.anatomical_structureOncology030220 oncology & carcinogenesisChild PreschoolFemalebusinessEuropean Journal of Cancer
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Expression profiles of HMGB1 on B-CLL related leukocytes contribute to prediction of relapse.

2020

The High Mobility Group Box 1 (HMGB1) is a nuclear protein that is frequently overexpressed in hematologic diseases and might be of relevance in immunogenic cancer control thus correlating with patients' (pts.) prognosis in diseases such as acute myeloid, acute lymphatic and chronic lymphocytic leukemia.Expression profiles of blasts from AML (n = 21), ALL (n = 16) and of B-lymphocytes of CLL (n = 9) pts. were analyzed for surface expression of HMGB1 using flow cytometry. Expression was quantified and correlated with clinically and prognostically relevant markers.Expression profiling of HMGB1 in blasts of AML and ALL subtypes did not show differences between primary vs. secondary disease dev…

0301 basic medicineOncologyMalemedicine.medical_specialtyMyeloidChronic lymphocytic leukemiaImmunologyPlasma Cellschemical and pharmacologic phenomenaHMGB1Biomarkers PharmacologicalFlow cytometryDiagnosis Differential03 medical and health sciences0302 clinical medicinehemic and lymphatic diseasesInternal medicinemedicineImmunology and AllergyHumansAnthracyclinesNuclear proteinHMGB1 ProteinB-LymphocytesAntibiotics Antineoplasticbiologymedicine.diagnostic_testbusiness.industryRemission InductionAge FactorsHematologyMiddle AgedGender relatedmedicine.diseaseFlow CytometryPrognosisLeukemia Lymphocytic Chronic B-CellGene expression profilingGene Expression Regulation NeoplasticLeukemia Myeloid Acute030104 developmental biologyLymphatic systemmedicine.anatomical_structurebiology.proteinDisease ProgressionFemaleNeoplasm Recurrence Localbusiness030215 immunologyImmunobiology
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