Search results for "ROUGH"

showing 10 items of 1198 documents

Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia

2019

International audience; Focal dermal hypoplasia (FDH, Goltz syndrome, MIM: #305600) constitutes a rare multisystem genetic disorder of the skin, skeleton, teeth and eyes with considerable variation in the clinical features. FDH is transmitted as an X-linked dominant trait and is caused by mutations in PORCN. In males, hemizygous PORCN mutations are lethal in utero. Around 300 cases have been reported in the literature to date. About 10% of them are males presenting either Klinefelter syndrome (karyotype 47, XXY) or mosaicism of a postzygotic mutation. Here we describe four cases of women with typical features of FDH, in whom a PORCN mutation was found in DNA from affected cutaneous tissue b…

AdultZygoteDNA Mutational AnalysisDermatologyBiologyPostzygotic mutationmedicine.disease_causePORCNYoung Adult030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicinemedicineHumansMissense mutationGoltz syndromeSkinGeneticsMutationMosaicismMouth MucosaGenetic disorderHigh-Throughput Nucleotide SequencingMembrane Proteinscutaneous mosaicismKaryotypemedicine.diseaseFocal dermal hypoplasia3. Good healthPORCNfocal dermal hypoplasiaFemaleKlinefelter syndromeAcyltransferases[SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/DermatologyBritish Journal of Dermatology
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Reliability of genomic variants across different next-generation sequencing platforms and bioinformatic processing pipelines

2021

Abstract Background Next Generation Sequencing (NGS) is the fundament of various studies, providing insights into questions from biology and medicine. Nevertheless, integrating data from different experimental backgrounds can introduce strong biases. In order to methodically investigate the magnitude of systematic errors in single nucleotide variant calls, we performed a cross-sectional observational study on a genomic cohort of 99 subjects each sequenced via (i) Illumina HiSeq X, (ii) Illumina HiSeq, and (iii) Complete Genomics and processed with the respective bioinformatic pipeline. We also repeated variant calling for the Illumina cohorts with GATK, which allowed us to investigate the e…

Aginglcsh:QH426-470lcsh:BiotechnologyLongevity610 MedizinGATK ; Next-generation sequencing (NGS) technologies ; Illumina ; Longevity ; Complete genomics ; Healthy aging ; Wellderly ; Aging ; Platform-biasesPlatform-biasesPolymorphism Single Nucleotide570 Life sciencesIlluminaNext-generation sequencing (NGS) technologieslcsh:TP248.13-248.65610 Medical sciences620 Engineering and allied operationsHumansComputational BiologyHigh-Throughput Nucleotide SequencingReproducibility of ResultsGATKGenomicsPhysik (inkl. Astronomie)620 Ingenieurwissenschaften und MaschinenbauWellderlylcsh:GeneticsCross-Sectional StudiesHealthy agingComplete genomics570 BiowissenschaftenResearch Article
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Nociceptin/orphanin FQ opioid receptor (NOP) selective ligand MCOPPB links anxiolytic and senolytic effects

2021

Accumulation of senescent cells may drive age-associated alterations and pathologies. Senolytics are promising therapeutics that can preferentially eliminate senescent cells. Here, we performed a high-throughput automatized screening (HTS) of the commercial LOPAC®Pfizer library on aphidicolin-induced senescent human fibroblasts, to identify novel senolytics. We discovered the nociceptin receptor FQ opioid receptor (NOP) selective ligand 1-[1-(1-methylcyclooctyl)-4-piperidinyl]-2-[(3R)-3-piperidinyl]-1H-benzimidazole (MCOPPB, a compound previously studied as potential anxiolytic) as the best scoring hit. The ability of MCOPPB to eliminate senescent cells in in vitro models was further tested…

Agingmedicine.drug_classNarcotic AntagonistsNOPMCOPPBSenescenceLigandsAnxiolyticMice03 medical and health scienceschemistry.chemical_compound0302 clinical medicinePiperidinesSenotherapeuticsOpioid receptormedicineAnimalsHumansSenolyticCaenorhabditis elegansReceptorSenolyticCellular Senescence030304 developmental biology0303 health sciencesNOPSenolytic.ChemistryLigand (biochemistry)High-Throughput Screening Assays3. Good healthCell biologyAnalgesics OpioidNociceptin receptorAnti-Anxiety AgentsOpioid PeptidesReceptors OpioidOriginal ArticleGeriatrics and Gerontology030217 neurology & neurosurgeryGeroScience
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FORMAL CONCEPTION OF ROUGH SETS

1996

In the paper we present a formal description of rough sets within the framework of the generalized set theory, which is interpreted in the set approximation theory. The rough sets are interpreted as approximations, which are defined by means of the Pawlak's rough sets.

AlgebraDiscrete mathematicsAlgebra and Number TheoryComputational Theory and MathematicsDominance-based rough set approachSet approximationSet theoryRough setFormal descriptionInformation SystemsTheoretical Computer ScienceMathematicsFundamenta Informaticae
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Formal Description of Rough Sets

1994

In the paper we present a formal description of rough sets within the limits of the generalized set theory, which is interpreted in the approximation of set theory. The rough sets are interpreted as an approximations, which are defined by means of the Pawlak’s rough sets.

AlgebraSimple objectRough setSet theoryFormal descriptionMathematics
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Microspectroscopy on single domains of phase-separated monolayers

1989

SUMMARY A versatile and inexpensive, but fully equipped apparatus is presented, which enables detailed optical studies on amphiphilic molecules at the liquid-gas interface. Structural and spectroscopic information, particularly in small areas of single domains of phase-separated monolayers, can be achieved by combination of this miniaturized Langmuir trough and spectralphotometer microscope. The potential of this apparatus is demonstrated with some measurements on a diyne-substituted polymerizable lipid analogue at the air-water interface.

Amphiphilic moleculeHistologyMicroscopelawChemistryPhase (matter)Langmuir troughMonolayerNanotechnologyPathology and Forensic Medicinelaw.inventionJournal of Microscopy
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Pharmacological management of cancer pain in children

2014

The aim of this review was to assess cancer pain management in children on the basis of research published in the last ten years. Nine were papers providing clinical data, with a minimum of ten patients. No controlled studies were found. Regardless of general principles and existing recommendations, clinical data should confirm the applicability of this concept. The trials published in the last years did not provide further information to improve cancer pain management in children, because of the experience and the low number of drugs used, reflecting only meaningful opinions of experts in the field. The amount and the quality of data still remain poor, as only 737 subjects (about 80 patien…

Analgesicsmedicine.medical_specialtybusiness.industryCancer pain Pediatric painBreakthrough PainPharmacological managementAlternative medicinePainSettore MED/41 - AnestesiologiaHematologyPharmacologyClinical trialOncologyOpioidNeoplasmsHumansMedicineChildbusinessAdverse effectOpioid analgesicsIntensive care medicineCancer painmedicine.drug
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The Antioxidant Potential of White Wines Relies on the Chemistry of Sulfur-Containing Compounds: An Optimized DPPH Assay

2019

The DPPH (2,2-Diphenyl-1-picrylhydrazyl) assay is an easy and efficient method commonly used to determine the antioxidant capacity of many food matrices and beverages. In contrast with red wines, white wines are poorer in antioxidant polyphenolics, and the more hydrophilic sulfur-containing compounds in them may contribute significantly to their antioxidant capacity. The modification of the classical DPPH method, with a methanol-buffer and the measure of EC20 (quantity of sample needed to decrease the initial DPPH concentration by 20%) has shown that sulfur-containing compounds such as cysteine (0.037 &plusmn

AntioxidantDPPHmedicine.medical_treatmentPharmaceutical ScienceMethanethiolWineantioxidant capacity01 natural sciencesAntioxidantsCatechinAnalytical ChemistryEC<sub>20</sub>Ferulic acidchemistry.chemical_compoundcaractérisation sensorielleDrug Discovery[SDV.IDA]Life Sciences [q-bio]/Food engineeringCaffeic acidFood sciencefood and beveragesCatechinChimical engineering04 agricultural and veterinary sciences040401 food science3. Good healthChemistryChemistry (miscellaneous)Alimentation et NutritionMolecular Medicinesulfur compoundscapacité antioxydanteCoumaric AcidsDPPH;antioxidant capacity;Chardonnay;white wine;EC20;sensory oxidation level;sulfur compoundswhite winesensory oxidation levelChardonnayArticlelcsh:QD241-4410404 agricultural biotechnologyCaffeic Acidslcsh:Organic chemistryPhenolsPicratesmedicineEC20Food and NutritionGénie chimiqueHumansPhysical and Theoretical ChemistryBiologyvin blanc010401 analytical chemistryOrganic ChemistryBiphenyl CompoundsGlutathione0104 chemical sciencesHigh-Throughput Screening AssayschemistryPolyphenolDPPHMolecules
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A Hardware and Secure Pseudorandom Generator for Constrained Devices

2018

Hardware security for an Internet of Things or cyber physical system drives the need for ubiquitous cryptography to different sensing infrastructures in these fields. In particular, generating strong cryptographic keys on such resource-constrained device depends on a lightweight and cryptographically secure random number generator. In this research work, we have introduced a new hardware chaos-based pseudorandom number generator, which is mainly based on the deletion of an Hamilton cycle within the $N$ -cube (or on the vectorial negation), plus one single permutation. We have rigorously proven the chaotic behavior and cryptographically secure property of the whole proposal: the mid-term eff…

Applied cryptography; Chaotic circuits; Constrained devices; Discrete dynamical systems; FPGA; Lightweight Cryptography; Random number generators; Statistical tests; Control and Systems Engineering; Information Systems; Computer Science Applications1707 Computer Vision and Pattern Recognition; Electrical and Electronic EngineeringHardware security moduleComputer scienceRandom number generationCryptography[INFO.INFO-SE]Computer Science [cs]/Software Engineering [cs.SE]02 engineering and technologyPseudorandom generatorConstrained devicesLightweight CryptographyChaotic circuits[INFO.INFO-IU]Computer Science [cs]/Ubiquitous Computing[INFO.INFO-CR]Computer Science [cs]/Cryptography and Security [cs.CR]PermutationRandom number generatorsStatistical tests0202 electrical engineering electronic engineering information engineeringElectrical and Electronic EngineeringField-programmable gate arrayThroughput (business)FPGAPseudorandom number generatorGenerator (category theory)business.industry020208 electrical & electronic engineeringComputer Science Applications1707 Computer Vision and Pattern Recognition020206 networking & telecommunicationsDiscrete dynamical systems[INFO.INFO-MO]Computer Science [cs]/Modeling and SimulationComputer Science ApplicationsApplied cryptography[INFO.INFO-MA]Computer Science [cs]/Multiagent Systems [cs.MA]Control and Systems EngineeringKey (cryptography)[INFO.INFO-ET]Computer Science [cs]/Emerging Technologies [cs.ET][INFO.INFO-DC]Computer Science [cs]/Distributed Parallel and Cluster Computing [cs.DC]businessComputer hardwareInformation SystemsIEEE Transactions on Industrial Informatics
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Plant virus evolution under strong drought conditions results in a transition from parasitism to mutualism

2021

Environmental conditions are an important factor driving pathogens’ evolution. Here, we explore the effects of drought stress in plant virus evolution. We evolved turnip mosaic potyvirus in well-watered and drought conditions in Arabidopsis thaliana accessions that differ in their response to virus infection. Virus adaptation occurred in all accessions independently of watering status. Drought-evolved viruses conferred a significantly higher drought tolerance to infected plants. By contrast, nonsignificant increases in tolerance were observed in plants infected with viruses evolved under standard watering. The magnitude of this effect was dependent on the plant accessions. Differences in to…

Arabidopsis thalianamutualismvirusesDrought tolerancePotyvirusdrought tolerancehormone signalingBiologyVirusMutualismHormone signalingPlant virusexperimental evolutionSymbiosisGeneticsMutualism (biology)virus evolutionExperimental evolutionMultidisciplinaryAbiotic stressSystems BiologyfungiPotyvirusfood and beveragesBiological Sciencesbiology.organism_classificationVirus evolutionExperimental evolutionViral evolutiongene expressionGene expression
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