Search results for "hole"

showing 10 items of 2900 documents

Integrative analysis of structural variations using short-reads and linked-reads yields highly specific and sensitive predictions.

2020

Genetic diseases are driven by aberrations of the human genome. Identification of such aberrations including structural variations (SVs) is key to our understanding. Conventional short-reads whole genome sequencing (cWGS) can identify SVs to base-pair resolution, but utilizes only short-range information and suffers from high false discovery rate (FDR). Linked-reads sequencing (10XWGS) utilizes long-range information by linkage of short-reads originating from the same large DNA molecule. This can mitigate alignment-based artefacts especially in repetitive regions and should enable better prediction of SVs. However, an unbiased evaluation of this technology is not available. In this study, w…

0301 basic medicineFalse discovery rateComputer scienceArtificial Gene Amplification and ExtensionPolymerase Chain ReactionDatabase and Informatics MethodsSequencing techniques0302 clinical medicineBreast TumorsBasic Cancer ResearchMedicine and Health SciencesDNA sequencingBiology (General)EcologyHigh-Throughput Nucleotide SequencingGenomicsDNA Neoplasm3. Good healthIdentification (information)OncologyComputational Theory and MathematicsModeling and SimulationMCF-7 CellsFemaleSequence AnalysisResearch ArticleBioinformaticsQH301-705.5Breast NeoplasmsGenomicsComputational biologyResearch and Analysis MethodsHuman Genomics03 medical and health sciencesCellular and Molecular NeuroscienceCancer GenomicsGenomic MedicineBreast CancerGeneticsDNA Barcoding TaxonomicHumansMolecular Biology TechniquesMolecular BiologyEcology Evolution Behavior and SystematicsWhole genome sequencingLinkage (software)Whole Genome SequencingGenome HumanDideoxy DNA sequencingGenetic Diseases InbornCancers and NeoplasmsBiology and Life SciencesComputational BiologyStatistical modelSequence Analysis DNARepetitive RegionsLogistic Models030104 developmental biologyGenomic Structural VariationHuman genomeSequence Alignment030217 neurology & neurosurgeryPLoS Computational Biology
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Deciphering the functional role of spatial and temporal muscle synergies in whole-body movements

2018

AbstractVoluntary movement is hypothesized to rely on a limited number of muscle synergies, the recruitment of which translates task goals into effective muscle activity. In this study, we investigated how to analytically characterize the functional role of different types of muscle synergies in task performance. To this end, we recorded a comprehensive dataset of muscle activity during a variety of whole-body pointing movements. We decomposed the electromyographic (EMG) signals using a space-by-time modularity model which encompasses the main types of synergies. We then used a task decoding and information theoretic analysis to probe the role of each synergy by mapping it to specific task …

0301 basic medicineFunctional roleAdultMalespinal-cordComputer scienceMovementequilibrium-point hypothesislcsh:Medicineemg patternsarm movementsTemporal muscleArticleinterindividual variabilityprimitives03 medical and health sciences0302 clinical medicineSpatio-Temporal Analysismedicinemotor controlHumansMuscle activityMuscle Skeletalactivation patternslcsh:ScienceMultidisciplinarybusiness.industryElectromyographylcsh:RMotor controlPattern recognitionSpinal cord030104 developmental biologymedicine.anatomical_structureFemale[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]lcsh:QArtificial intelligenceWhole bodybusinesssensorimotor control030217 neurology & neurosurgeryinformation measuresScientific Reports
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2017

Coastal marine Vibrio cholerae populations usually exhibit high genetic diversity. To assess the genetic diversity of abundant V. cholerae non-O1/non-O139 populations in the Central European lake Neusiedler See, we performed a phylogenetic analysis based on recA, toxR, gyrB and pyrH loci sequenced for 472 strains. The strains were isolated from three ecologically different habitats in a lake that is a hot-spot of migrating birds and an important bathing water. We also analyzed 76 environmental and human V. cholerae non-O1/non-O139 isolates from Austria and other European countries and added sequences of seven genome-sequenced strains. Phylogenetic analysis showed that the lake supports a un…

0301 basic medicineGenetic diversityPhylogenetic treeEcology030106 microbiologyBiologymedicine.disease_causeMicrobiologyGenetic recombination03 medical and health sciencesMonophylyVibrio choleraePhylogeneticsGenetic variationmedicineCladeEcology Evolution Behavior and SystematicsEnvironmental Microbiology
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Behavioral fragmentation in the D1CT-7 mouse model of Tourette's syndrome.

2017

Aim The transgenic D1CT-7 mouse is one of the best-characterized animal models of Tourette's syndrome (TS), exhibiting spontaneous tic-like Head-Body Twitches (HBT) and deficits in sensorimotor gating. This study is aimed at evaluating the behavioral dynamics of these mutants and their potential relevance to TS. Methods The behavior of D1CT-7 and Wild Type littermates was firstly assessed by considering frequencies and durations. To detect recurrent real-time behavioral sequences, the multivariate T-pattern analysis was employed. Analyses of transition probabilities among behaviors further provided an overall picture of the behavioral dynamics. Results T-patterns and transition matrices rev…

0301 basic medicineGenetically modified mouseMaleCholera ToxinTransgeneTourette's syndromeMice Transgenictransition matriceBiologyMotor ActivityTourette syndromeOpen fieldStatistics Nonparametric03 medical and health sciencesMice0302 clinical medicineSniffingPhysiology (medical)medicineAnimalsPharmacology (medical)tic disorderGait Disorders NeurologicPharmacologyMice Inbred BALB CD1CT-7Behavior AnimalReceptors Dopamine D1Wild typeBehavioral patternT-pattern analysiOriginal Articlesmedicine.diseasePhenotypeDisease Models Animal030104 developmental biologyPsychiatry and Mental HealthMotor SkillsExploratory BehaviorNeuroscience030217 neurology & neurosurgeryTourette SyndromeCNS neurosciencetherapeutics
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Complete Genome Sequence of an Aquaculture-Associated Phage, FL-1, Infecting Flavobacterium spp

2017

Flavobacterium spp. are abundant and widespread in freshwater environments (1, 2). Despite the prevalence of the members in this genus, the phages infecting Flavobacterium spp. are less known. So far, most of the phages studied in detail infect fish pathogenic members of the genus, such as F. psychrophilum (3). The phage FL-1 and its Flavobacterium sp. host strain B183 were previously isolated from a water sample from a fish farm in Central Finland. Transmission electron microscopy revealed FL-1 to be a member of the family Myoviridae (4). In addition to the isolation host, FL-1 also infects multiple Flavobacterium sp. isolates and strains of the fish pathogen F. columnare, the causative ag…

0301 basic medicineGeneticsWhole genome sequencingbiologybusiness.industrycomplete genome sequenceeducation030106 microbiology1184 Genetics developmental biology physiologyZoologybiology.organism_classificationGenome6. Clean water03 medical and health sciences030104 developmental biologyAquacultureflavobacteriumaquaculture-associated phageGenetics1182 Biochemistry cell and molecular biologybusinessMolecular BiologyFlavobacteriumGenome Announcements
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IFNL3/4 genotype is associated with altered immune cell populations in peripheral blood in chronic hepatitis C infection

2016

Single-nucleotide polymorphisms near the interferon lambda 3 (IFNL3) gene predict outcomes to infection and anti-viral treatment in hepatitis C virus (HCV) infection. To identify IFNL3 genotype effects on peripheral blood, we collected phenotype data on 400 patients with genotype 1 chronic hepatitis C (CHC). The IFNL3 responder genotype predicted significantly lower white blood cells (WBCs), as well as lower absolute numbers of monocytes, neutrophils and lymphocytes for both rs8099917 and rs12979860. We sought to define the WBC subsets driving this association using flow cytometry of 67 untreated CHC individuals. Genotype-associated differences were seen in the ratio of CD4CD45RO+ to CD4CD4…

0301 basic medicineGenotypeTranscription FactorT-LymphocytesHepatitis C virusImmunologyHepacivirusBiologymedicine.disease_causeMonocyteMonocytesCohort Studies03 medical and health sciencesGeneticInterferonGenotypeGeneticsmedicineHumansGenetics (clinical)Whole bloodHepaciviruInterleukinsMonocyteGATA3Hepatitis CHepatitis C ChronicInterleukinViral Loadmedicine.diseaseFlow CytometryAntigens Differentiation3. Good healthKiller Cells Natural030104 developmental biologymedicine.anatomical_structureT-LymphocyteImmunologyOriginal ArticleInterferonsCohort StudieViral loadTranscription Factorsmedicine.drugHuman
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A nutrition intervention with a main focus on vegetables and bread consumption among young men in the Norwegian National Guard

2013

Background : Young men are difficult to reach with conventional nutrition information and they have a low intake of vegetables and whole grain cereals. Few intervention studies have focused on improving young men’s consumption of vegetables and whole grains. Objective : A 5-month intervention focusing on a combination of increased availability of healthy foods and nutritional information was developed to stimulate the intake of vegetables and semi-whole grain bread among a group of young men in the Norwegian military. Subjects : A total of 376 recruits in the intervention group and 105 recruits in the control group participated in the entire study. Results: The average daily increase in con…

0301 basic medicineGerontologyvegetablesbreadlcsh:TX341-641NorwegianWhole grains03 medical and health sciences0302 clinical medicineEnvironmental healthIntervention (counseling)Nutritional knowledgeMedicineNutrition information030212 general & internal medicinePublic Health NutritionWhole Grain CerealsinterventionConsumption (economics)030109 nutrition & dieteticsNutrition and Dieteticsbusiness.industryPublic Health Environmental and Occupational Healthfood and beverageslanguage.human_languageNutrition InterventionIntervention young men vegetables breadlanguageOriginal ArticleNational guardbusinessyoung menlcsh:Nutrition. Foods and food supplyFood ScienceFood & Nutrition Research
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Stability of Alkyl Chain-Mediated Lipid Anchoring in Liposomal Membranes

2020

Lipid exchange among biological membranes, lipoprotein particles, micelles, and liposomes is an important yet underrated phenomenon with repercussions throughout the life sciences. The premature loss of lipid molecules from liposomal formulations severely impacts therapeutic applications of the latter and thus limits the type of lipids and lipid conjugates available for fine-tuning liposomal properties. While cholesterol derivatives, with their irregular lipophilic surface shape, are known to readily undergo lipid exchange and interconvert, e.g., with serum, the situation is unclear for lipids with regular, linear-shaped alkyl chains. This study compares the propensity of fluorescence-label…

0301 basic medicineGlycerolliposomesPolymers02 engineering and technologyMicelleArticle03 medical and health scienceschemistry.chemical_compoundpolyglycerolDrug Delivery SystemsCell Line TumorHumanslcsh:QH301-705.5Alkylchemistry.chemical_classificationLiposomeCholesterolBiological membraneMembranes ArtificialGeneral Medicine021001 nanoscience & nanotechnologyFlow CytometrybioconjugatesLipidsDynamic Light Scattering030104 developmental biologyMembranelcsh:Biology (General)chemistryMicroscopy FluorescenceDrug deliveryclick chemistrydrug deliveryBiophysicslipids (amino acids peptides and proteins)0210 nano-technologyLipoproteinCells
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Effects of Plant Sterols or β-Cryptoxanthin at Physiological Serum Concentrations on Suicidal Erythrocyte Death.

2018

The eryptotic and hemolytic effects of a phytosterol (PS) mixture (β-sitosterol, campesterol, stigmasterol) or β-cryptoxanthin (β-Cx) at physiological serum concentration and their effect against oxidative stress induced by tert-butylhydroperoxide (tBOOH) (75 and 300 μM) were evaluated. β-Cryptoxanthin produced an increase in eryptotic cells, cell volume, hemolysis, and glutathione depletion (GSH) without ROS overproduction and intracellular Ca2+influx. Co-incubation of both bioactive compounds protected against β-Cx-induced eryptosis. Under tBOOH stress, PS prevented eryptosis, reducing Ca2+influx, ROS overproduction and GSH depletion at 75 μM, and hemolysis at both tBOOH concentrations. β…

0301 basic medicineHemolysiErythrocytesCampesterolBeta-CryptoxanthinEryptosisStigmasterolPharmacologymedicine.disease_causeHemolysisβ-cryptoxanthin03 medical and health scienceschemistry.chemical_compound0302 clinical medicinetert-ButylhydroperoxidemedicineHumansCells Culturedphytosteroloxidative streStigmasterolChemistryCholesterolPhytosterolChemistry (all)PhytosterolsGeneral ChemistryGlutathionemedicine.diseaseSitosterolGlutathioneSitosterolsHemolysisErythrocyteOxidative Stress030104 developmental biologyCholesterolAgricultural and Biological Sciences (all)030220 oncology & carcinogenesiseryptosiGeneral Agricultural and Biological SciencesIntracellularOxidative stressHumanJournal of agricultural and food chemistry
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Effects of 3,5-diiodo-L-thyronine on the liver of high fat diet fed rats

2016

Experimental studies have highlighted that the administration of 3,5-diiodo-L-thyronine (T2) to rats fed diets rich in lipids induces a decrease of cholesterol and triglycerides plasma levels and body weight (BW) without inducing liver steatosis. On the basis of these observations we carried out some experimental <em>in vivo</em> studies to assess the effects of multiple high doses of T2 on the pituitary thyroid axis of rats fed diet rich in lipids. Fifteen male Wistar rats were divided into three groups of five animals each. The first group (N group) received standard diet, the second group was fed with a high fat diet (HFD group), while the third group (HFDT2 group) was additi…

0301 basic medicineHepatic steatosismedicine.medical_specialtyPlant ScienceAdrenocorticotropic hormoneHepatic steatosi010501 environmental sciencesBiologySettore BIO/09 - Fisiologia01 natural sciencesGeneral Biochemistry Genetics and Molecular BiologyPituitary thyroid axis03 medical and health scienceschemistry.chemical_compoundInternal medicinemedicinelcsh:QH301-705.50105 earth and related environmental sciences35-diiodo-L-thyronine; TSH; Thyroid hormone; Hepatic steatosisBiochemistry Genetics and Molecular Biology (all)TriiodothyronineTSHCholesterolBiochemistry (medical)medicine.diseaseSettore CHIM/08 - Chimica Farmaceutica35-diiodo-L-thyronineThyroid hormone030104 developmental biologyEndocrinologylcsh:Biology (General)chemistryThyronineSettore BIO/14 - FarmacologiaAlkaline phosphataseSteatosisHormoneJournal of Biological Research - Bollettino della Società Italiana di Biologia Sperimentale
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