Search results for "Correlation"

showing 10 items of 2282 documents

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in fem…

2021

Contains fulltext : 231702.pdf (Publisher’s version ) (Closed access) Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Deletions involving two non-overlapping regions, known as the distal (telomeric) and proximal (centromeric) critical regions, are sufficient to cause the majority of the recurrent clinical features, although with different facial features and dysmorphisms. SPEN encodes a transcriptional repressor commonly deleted in proximal del1p36 syndrome and is located centromeric to the proximal 1p36 critical region. Here, we used clinical data from 34 individuals…

0301 basic medicineSHARPMaleobesitygenotype-phenotype correlationsAutism Spectrum DisorderPROTEINChromosome DisordersHaploinsufficiencyRNA-Binding ProteinPHENOTYPE CORRELATIONS1p36; distal 1p36 deletion syndrome; DNA methylome analysis; episignature; genotype-phenotype correlations; neurodevelopmental disorder; obesity; proximal 1p36 deletion syndrome; SPEN; X chromosome; Adolescent; Autism Spectrum Disorder; Child; Child Preschool; Chromosome Deletion; Chromosome Disorders; Chromosomes Human Pair 1; Chromosomes Human X; DNA Methylation; DNA-Binding Proteins; Epigenesis Genetic; Female; Haploinsufficiency; Humans; Intellectual Disability; Male; Neurodevelopmental Disorders; Phenotype; RNA-Binding Proteins; Young AdultEpigenesis GeneticX chromosome0302 clinical medicineNeurodevelopmental disorderNeurodevelopmental DisorderIntellectual disabilityMOLECULAR CHARACTERIZATIONdistal 1p36 deletion syndromeChildGenetics (clinical)X chromosomeGeneticsXDNA methylome analysiRNA-Binding ProteinsSPLIT-ENDSHypotoniaDNA-Binding ProteinsPhenotypeAutism spectrum disorderChromosomes Human Pair 1Child PreschoolDNA methylome analysisMONOSOMY 1P36Pair 1SPENFemalemedicine.symptomChromosome DeletionHaploinsufficiencyRare cancers Radboud Institute for Health Sciences [Radboudumc 9]HumanAdolescentDNA-Binding ProteinBiologygenotype-phenotype correlationChromosomes03 medical and health sciencesYoung AdultGeneticSDG 3 - Good Health and Well-beingReportIntellectual DisabilityREVEALSGeneticsmedicineHumansEpigeneticsPreschoolChromosomes Human XNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]1p361p36 deletion syndromeIDENTIFICATIONMUTATIONSproximal 1p36 deletion syndromeDNA Methylationmedicine.diseaseneurodevelopmental disorderGENEepisignature030104 developmental biologyChromosome DisorderNeurodevelopmental Disorders030217 neurology & neurosurgeryEpigenesis
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Correlation between work impairment, scores of rhinitis severity and asthma using the MASK-air ® App

2020

Background: In allergic rhinitis, a relevant outcome providing information on the effectiveness of interventions is needed. In MASK-air (Mobile Airways Sentinel Network), a visual analogue scale (VAS) for work is used as a relevant outcome. This study aimed to assess the performance of the work VAS work by comparing VAS work with other VAS measurements and symptom-medication scores obtained concurrently. Methods: All consecutive MASK-air users in 23 countries from 1 June 2016 to 31 October 2018 were included (14 189 users; 205 904 days). Geolocalized users self-assessed daily symptom control using the touchscreen functionality on their smart phone to click on VAS scores (ranging from 0 to 1…

0301 basic medicineSYMPTOMSSmart phoneAllergyEscala visual analógicaINNOVATION[SDV]Life Sciences [q-bio]Medical and Health SciencesCorrelationvisual analogue scale0302 clinical medicineQuality of lifeVisual analogue scaleQUALITY-OF-LIFEMàscaresImmunology and AllergyscoreNoseRinitisRhinitisPRODUCTIVITY COSTSasthma; MASK; rhinitis; score; visual analogue scaleScoreExplained variationResponse VariabilityMobile ApplicationsALLERGIC RHINITISrhinitimedicine.anatomical_structureTRIALSRinite1107 Immunology[SDV.IMM]Life Sciences [q-bio]/ImmunologySmartphonemedicine.medical_specialtyMASKVisual analogue scaleMASK study groupImmunologyMACVIA-ARIA03 medical and health sciencesAllergicrhinitismedicineHumansvisual analogue scale.TECHNOLOGYIMMUNOTHERAPYAsmaAsthmabusiness.industryasthma; MASK; rhinitis; score; visual analogue scale; Humans; Smartphone; Asthma; Mobile Applications; Rhinitis; Rhinitis Allergicasthmamedicine.diseaseRhinitis AllergicAsthmaRHINOCONJUNCTIVITIS030104 developmental biology030228 respiratory system3121 General medicine internal medicine and other clinical medicinePhysical therapyClinical Medicinebusiness[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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Clustering of low-correlated spatial gene expression patterns in the mouse brain in the Allen Brain Atlas

2018

In this paper, clustering techniques are applied to spatial gene expression patterns with a low genomic correlation between the sagittal and coronal projections. The data analysed here are hosted on an available public DB named ABA (Allen Brain Atlas). The results are compared to those obtained by Bohland et al. on the complementary dataset (high correlation values). We prove that, by analysing a reduced dataset,hence reducing the computational burden, we get the same accuracy in highlighting different neuroanatomical region.

0301 basic medicineSettore INF/01 - InformaticaComputer scienceBrain atlasComputer Science ApplicationGenomicsComputational biologySagittal planeCorrelation03 medical and health sciences030104 developmental biology0302 clinical medicinemedicine.anatomical_structureComputer Networks and CommunicationHardware and ArchitectureCoronal planeGene expressionmedicineComputer Vision and Pattern RecognitionElectrical and Electronic EngineeringCluster analysis030217 neurology & neurosurgery
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Analyzing the feasibility of time correlated spectral entropy for the assessment of neuronal synchrony

2016

In this paper, we study neuronal network analysis based on microelectrode measurements. We search for potential relations between time correlated changes in spectral distributions and synchrony for neuronal network activity. Spectral distribution is quantified by spectral entropy as a measure of uniformity/complexity and this measure is calculated as a function of time for the recorded neuronal signals, i.e., time variant spectral entropy. Time variant correlations in the spectral distributions between different parts of a neuronal network, i.e., of concurrent measurements via different microelectrodes, are calculated to express the relation with a single scalar. We demonstrate these relati…

0301 basic medicineSpectral power distributionhippocampusta3112Correlation03 medical and health sciences0302 clinical medicineStatisticsBiological neural networkAnimalsEntropy (information theory)Neuronal synchronyAnalysis methodMathematicsta217Quantitative Biology::Neurons and Cognitionta213Spectral entropybiological neural networkselectrodesrats030104 developmental biologycorrelationBiological systementropyprobesMicroelectrodes030217 neurology & neurosurgery
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CUDA-enabled hierarchical ward clustering of protein structures based on the nearest neighbour chain algorithm

2015

Clustering of molecular systems according to their three-dimensional structure is an important step in many bioinformatics workflows. In applications such as docking or structure prediction, many algorithms initially generate large numbers of candidate poses (or decoys), which are then clustered to allow for subsequent computationally expensive evaluations of reasonable representatives. Since the number of such candidates can easily range from thousands to millions, performing the clustering on standard central processing units (CPUs) is highly time consuming. In this paper, we analyse and evaluate different approaches to parallelize the nearest neighbour chain algorithm to perform hierarc…

0301 basic medicineSpeedupComputer scienceCorrelation clusteringParallel computingTheoretical Computer Science03 medical and health sciencesCUDA030104 developmental biologyHardware and ArchitectureCluster analysisAlgorithmSoftwareWard's methodThe International Journal of High Performance Computing Applications
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Genetic and Environmental Effects on Telomere Length and Lung Function: A Twin Study.

2015

Background The purpose of the study was to estimate the heritability of leukocyte telomere length (LTL) and lung function and to examine whether LTL and lung function share genetic or environmental effects in common. Methods 386 monozygotic and dizygotic Finnish twin sisters (age 68.4±3.4 years) were included. Relative LTL was determined from peripheral blood DNA by qPCR. Lung function measures of FEV1, FVC, FEV1/FVC, and PEF were derived from spirometry. Genetic modeling was performed with MPlus statistical software. Results Univariate analysis revealed that in LTL, 62% (95% confidence interval 50-72) of the variance was explained by additive genetic and 38% (28-50) by unique environmental…

0301 basic medicineSpirometryAgingBivariate analysista3111Genetic correlation03 medical and health sciencesFEV1/FVC ratio0302 clinical medicineForced Expiratory VolumeLeukocytesTwins DizygoticMedicineHumansLungAgedmedicine.diagnostic_testbusiness.industryEnvironmental exposureta3142Environmental ExposureTwins Monozygoticrespiratory systemHeritabilityMiddle AgedTelomeretelomeresTwin studyConfidence intervalrespiratory tract diseases030104 developmental biology030228 respiratory systemSpirometrygenetic modelingFemaleGeriatrics and GerontologybusinessDemographyThe journals of gerontology. Series A, Biological sciences and medical sciences
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Monitoring few molecular binding events in scalable confined aqueous compartments by raster image correlation spectroscopy (CADRICS)

2016

The assembly of scalable liquid compartments for binding assays in array formats constitutes a topic of fundamental importance in life sciences. This challenge can be addressed by mimicking the structure of cellular compartments with biological native conditions. Here, inkjet printing is employed to develop up to hundreds of picoliter aqueous droplet arrays stabilized by oil-confinement with mild surfactants (Tween-20). The aqueous environments constitute specialized compartments in which biomolecules may exploit their function and a wide range of molecular interactions can be quantitatively investigated. Raster Image Correlation Spectroscopy (RICS) is employed to monitor in each compartmen…

0301 basic medicineStreptavidinBiomedical EngineeringMolecular bindingBiotinBioengineeringNanotechnology02 engineering and technologydroplets microarrays inkjet printing Raster Image Correlation Spectroscopy water-in-oil emulsion StreptvidinBiochemistry03 medical and health scienceschemistry.chemical_compoundCompartment (pharmacokinetics)Cellular compartmentchemistry.chemical_classificationAqueous solutionSpectrum AnalysisBiomoleculeWaterGeneral Chemistrycomputer.file_formatMicroarray Analysis021001 nanoscience & nanotechnology030104 developmental biologychemistryPrintingInkStreptavidinRaster graphics0210 nano-technologycomputerTwo-dimensional nuclear magnetic resonance spectroscopyLab on a Chip
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Assessment of genetic variation for pathogen-specific mastitis resistance in Valle del Belice dairy sheep

2016

Background: Mastitis resistance is a complex and multifactorial trait, and its expression depends on both genetic and environmental factors, including infection pressure. The objective of this research was to determine the genetic basis of mastitis resistance to specific pathogens using a repeatability threshold probit animal model. Results: The most prevalent isolated pathogens were coagulase-negative staphylococci (CNS); 39 % of records and 77 % of the animals infected at least one time in the whole period of study. There was significant genetic variation only for Streptococci (STR). In addition, there was a positive genetic correlation between STR and all pathogens together (ALL) (0.36 ±…

0301 basic medicineVeterinary medicineResistanceSheep DiseasesMastitisBreedingBiologyPlant disease resistancemedicine.disease_causeGenetic correlationEwe03 medical and health sciencesSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoStreptococcal InfectionsGenetic variationmedicineAnimalsUdderPathogenDisease ResistanceSheepMastitiGeneral VeterinaryStreptococcusPathogen0402 animal and dairy scienceGenetic VariationStreptococcusEwes; Mastitis; Pathogen; Resistance; Veterinary (all)04 agricultural and veterinary sciencesGeneral Medicinemedicine.diseaseveterinary(all)040201 dairy & animal scienceMastitisDairying030104 developmental biologymedicine.anatomical_structureTraitVeterinary (all)FemaleEwesResearch Article
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Deciphering human γδ T cell response in cancer: Lessons from tumor‐infiltrating γδ T cells

2020

The finding that γδ T cells are present among tumor-infiltrating lymphocytes in humans suggests they participate in tumor immune surveillance, but their relevance is unclear because the relative abundance of tumor-infiltrating γδ T cells correlates with positive or negative, or even do not correlate with prognosis. This likely depends on the fact that tumor-infiltrating γδ T cells may play substantially different effector or regulatory functions, and correlation with patient's prognosis relies on distinct γδ T cell subsets in the context of the tumor. There is interest to exploit γδ T cells in tumor immunotherapy, but to make this approach successful there is urgent need to fully understand…

0301 basic medicine[SDV]Life Sciences [q-bio]medicine.medical_treatmentT cellImmunologyContext (language use)BiologyTumor-infiltrating lymphocytesclinical correlationcolon cancer tumor microenvironment tumor-infiltrating lymphocytes γδ T lymphocytesClinical correlazion03 medical and health sciencesLymphocytes Tumor-Infiltrating0302 clinical medicineT-Lymphocyte SubsetsNeoplasmsmedicineHumansImmunology and AllergyComputingMilieux_MISCELLANEOUSTumor microenvironmentTumor-infiltrating lymphocytesEffectorCancerReceptors Antigen T-Cell gamma-deltaImmunotherapyGamma-delta T lymphocytesmedicine.diseaseColon cancer3. Good health030104 developmental biologymedicine.anatomical_structureTumor microenvironmentCancer researchEx vivo030215 immunologyImmunological Reviews
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FRET-based dynamic structural biology: Challenges, perspectives and an appeal for open-science practices.

2021

International audience; Single-molecule FRET (smFRET) has become a mainstream technique for studying biomolecular structural dynamics. The rapid and wide adoption of smFRET experiments by an ever- increasing number of groups has generated significant progress in sample preparation, measurement procedures, data analysis, algorithms and documentation. Several labs that employ smFRET approaches have joined forces to inform the smFRET community about streamlining how to perform experiments and analyze results for obtaining quantitative information on biomolecular structure and dynamics. The recent efforts include blind tests to assess the accuracy and the precision of smFRET experiments among d…

0301 basic medicineconformationOpen scienceComputer scienceStructural Biology and Molecular BiophysicsAMINOACYL-TRANSFER-RNAINTRAMOLECULAR DISTANCE DISTRIBUTIONSReview ArticleRESONANCE ENERGY-TRANSFER01 natural sciencesbiomoleculesFREELY DIFFUSING MOLECULESDocumentationFluorescence Resonance Energy TransferMainstreamstructural biologyBiology (General)General NeuroscienceQRNANO-POSITIONING SYSTEMGeneral MedicinedynamicsINTRINSICALLY DISORDERED PROTEINSSingle Molecule ImagingFLUORESCENCE CORRELATION SPECTROSCOPY[SDV.BBM.BP]Life Sciences [q-bio]/Biochemistry Molecular Biology/BiophysicsMedicinecommunitysingle-moleculeQH301-705.5ScienceAppeal[SDV.BBM.BP] Life Sciences [q-bio]/Biochemistry Molecular Biology/BiophysicsBioengineeringchemical biology010402 general chemistryGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesALTERNATING-LASER EXCITATIONBiochemistry and Chemical Biologymolecular biophysicsbiochemistryMolecular BiologyStructure (mathematical logic)General Immunology and MicrobiologySINGLE-MOLECULE FRETTRANSITION PATH TIMESData science0104 chemical sciences030104 developmental biologyFRETPosition paperGeneric health relevanceBiochemistry and Cell BiologyeLife
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