Search results for "GENETICS"

showing 10 items of 12494 documents

Mitochondrial bioenergetic pathways in blood leukocyte transcriptome decrease after intensive weight loss but are rescued following weight regain in …

2021

Prolonged periods of energy deficit leading to weight loss induce metabolic adaptations resulting in reduced energy expenditure, but the mechanisms for energy conservation are incompletely understood. We examined 42 healthy athletic females (age 27.5 +/- 4.0 years, body mass index 23.4 +/- 1.7 kg/m(2)) who volunteered into either a group dieting for physique competition (n = 25) or a control group (n = 17). The diet group substantially reduced their energy intake and moderately increased exercise levels to induce loss of fat mass that was regained during a voluntary weight regain period. The control group maintained their typical lifestyle habits and body mass as instructed. From the diet g…

0301 basic medicineBioenergeticsWeight GainruokavaliotBiochemistryTranscriptomeravitsemuskäyttäytyminen0302 clinical medicineWeight lossaineenvaihdunta2. Zero hungerexerciseAdaptation PhysiologicalMitochondriaFemalemedicine.symptomenergiankulutus (aineenvaihdunta)fyysinen aktiivisuusBiotechnologyDietingAdultmedicine.medical_specialtyleukocytesmitokondriotoxidative phosphorylationBiologypainonnousuribosomesYoung Adult03 medical and health sciencesInternal medicineWeight LossGeneticsmedicineMetabolomeHumansMolecular Biologyitsensä johtaminenlaihdutusAMPKMetabolism030104 developmental biologyEndocrinologyenergiansaanti1182 Biochemistry cell and molecular biologylihavuus3111 BiomedicineEnergy IntakeTranscriptomedietBody mass index030217 neurology & neurosurgery
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Genomic characterization of Defluviitoga tunisiensis L3, a key hydrolytic bacterium in a thermophilic biogas plant and its abundance as determined by…

2016

The genome sequence of Defluviitoga tunisiensis L3 originating from a thermophilic biogas-production plant was established and recently published as Genome Announcement by our group. The circular chromosome of D. tunisiensis L3 has a size of 2,053,097bp and a mean GC content of 31.38%. To analyze the D. tunisiensis L3 genome sequence in more detail, a phylogenetic analysis of completely sequenced Thermotogae strains based on shared core genes was performed. It appeared that Petrotoga mobilis DSM 10674(T), originally isolated from a North Sea oil-production well, is the closest relative of D. tunisiensis L3. Comparative genome analyses of P. mobilis DSM 10674(T) and D. tunisiensis L3 showed …

0301 basic medicineBioengineeringBiologyApplied Microbiology and BiotechnologyGenomeComparative genome analyses03 medical and health sciencesThermophilic BacteriaGeneGeneticsWhole genome sequencingThermotogaeBacteriaThermophileGeneral Medicinebiology.organism_classification030104 developmental biologyMetagenomicsBiofuelsThermotogaeMetagenomeSugar utilizationGC-contentGenome BacterialBiotechnologyArchaea
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Insect pathogenicity in plant-beneficial pseudomonads: phylogenetic distribution and comparative genomics

2016

Bacteria of the genus Pseudomonas occupy diverse environments. The Pseudomonas fluorescens group is particularly well-known for its plant-beneficial properties including pathogen suppression. Recent observations that some strains of this group also cause lethal infections in insect larvae, however, point to a more versatile ecology of these bacteria. We show that 26 P. fluorescens group strains, isolated from three continents and covering three phylogenetically distinct sub-clades, exhibited different activities toward lepidopteran larvae, ranging from lethal to avirulent. All strains of sub-clade 1, which includes Pseudomonas chlororaphis and Pseudomonas protegens, were highly insecticidal…

0301 basic medicineBioinformaticsVirulencePseudomonas fluorescensBiologyMicrobiologyHost SpecificityMicrobiology03 medical and health sciencesPseudomonas protegensMicrobial ecologyPhylogeneticsPseudomonasAnimalsEcology Evolution Behavior and SystematicsPhylogenyComparative genomicsGenomeVirulencePseudomonasfungiGenomics570: BiologiePlantsPseudomonas chlororaphisbiology.organism_classification3. Good healthLepidoptera030104 developmental biologyLarvainternationalOriginal Article
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CellMap visualizes protein-protein interactions and subcellular localization

2018

Many tools visualize protein-protein interaction (PPI) networks. The tool introduced here, CellMap, adds one crucial novelty by visualizing PPI networks in the context of subcellular localization, i.e. the location in the cell or cellular component in which a PPI happens. Users can upload images of cells and define areas of interest against which PPIs for selected proteins are displayed (by default on a cartoon of a cell). Annotations of localization are provided by the user or through our in-house database. The visualizer and server are written in JavaScript, making CellMap easy to customize and to extend by researchers and developers.

0301 basic medicineBioinformaticssubcellular locationContext (language use)BiologyJavaScriptGeneral Biochemistry Genetics and Molecular BiologyChemical Biology of the CellProtein–protein interactionprotein-protein interaction03 medical and health sciencesUploadHuman–computer interactionGeneral Pharmacology Toxicology and Pharmaceuticscomputer.programming_languagebiological visualization030102 biochemistry & molecular biologyGeneral Immunology and MicrobiologySoftware Tool ArticleNoveltyArticlesGeneral MedicineSubcellular localizationddc:ComputingMethodologies_PATTERNRECOGNITION030104 developmental biologyNeurosciencecomputerF1000Research
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EvalMSA: A Program to Evaluate Multiple Sequence Alignments and Detect Outliers

2016

8 páginas, 3 figuras, 2 tablas.

0301 basic medicineBiologiaComputer sciencemedia_common.quotation_subjectlcsh:EvolutionBinary numberGappinesscomputer.software_genre03 medical and health scienceslcsh:QH359-425GeneticsQuality (business)Relevance (information retrieval)Ecology Evolution Behavior and SystematicsOriginal Researchgappinessoutlier sequencecomputer.programming_languagemedia_commonSequenceMultiple sequence alignmentOutlier sequenceData scienceComputer Science ApplicationsIdentification (information)030104 developmental biologyOutliermultiple sequence alignmentMultiple sequence alignmentData miningPerlcomputerProgrames d'ordinadorEvolutionary Bioinformatics
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Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

2016

BACKGROUND Molecular diagnostics in the genetic myopathies often requires testing of the largest and most complex transcript units in the human genome (DMD, TTN, NEB). Iteratively targeting single genes for sequencing has traditionally entailed high costs and long turnaround times. Exome sequencing has begun to supplant single targeted genes, but there are concerns regarding coverage and needed depth of the very large and complex genes that frequently cause myopathies. OBJECTIVE To evaluate efficiency of next-generation sequencing technologies to provide molecular diagnostics for patients with previously undiagnosed myopathies. METHODS We tested a targeted re-sequencing approach, using a 45…

0301 basic medicineBiologyPolymerase Chain ReactionMuscular Dystrophies03 medical and health sciencesExon0302 clinical medicineMuscular DiseasesHumansGenetic TestingGeneExomeExome sequencingGeneticsMassive parallel sequencingHigh-Throughput Nucleotide SequencingSequence Analysis DNAMolecular diagnostics030104 developmental biologyNeurologyMolecular Diagnostic TechniquesRe sequencingMutationHuman genomeNeurology (clinical)030217 neurology & neurosurgery
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Double methylation of tRNA-U54 to 2′-O-methylthymidine (Tm) synergistically decreases immune response by Toll-like receptor 7

2018

Abstract Sensing of nucleic acids for molecular discrimination between self and non-self is a challenging task for the innate immune system. RNA acts as a potent stimulus for pattern recognition receptors including in particular human Toll-like receptor 7 (TLR7). Certain RNA modifications limit potentially harmful self-recognition of endogenous RNA. Previous studies had identified the 2′-O-methylation of guanosine 18 (Gm18) within tRNAs as an antagonist of TLR7 leading to an impaired immune response. However, human tRNALys3 was non-stimulatory despite lacking Gm18. To identify the underlying molecular principle, interferon responses of human peripheral blood mononuclear cells to differentia…

0301 basic medicineBiology[SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologyMethylation03 medical and health sciencesRNA TransferInterferonNucleic Acids[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]RNA and RNA-protein complexesGeneticsmedicineHumansComputingMilieux_MISCELLANEOUSToll-like receptorInnate immune systemGuanosine030102 biochemistry & molecular biologyPattern recognition receptorRNA[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologyTLR7Immunity InnateCell biology030104 developmental biologyToll-Like Receptor 7Transfer RNALeukocytes MononuclearNucleic acid[SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]InterferonsHydrogenThymidinemedicine.drug
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Making sense of big data in health research: {T}owards an {EU} action plan

2016

Genome medicine 8(1), 71 (2016). doi:10.1186/s13073-016-0323-y

0301 basic medicineBiomedical ResearchDatabases FactualPREDICTIONComputer scienceBig data: Santé publique services médicaux & soins de santé [D22] [Sciences de la santé humaine]XXBioinformaticsBases de dadesSYSTEMS MEDICINE0302 clinical medicineINFORMATICSCultural diversityHealth careGenetics(clinical)030212 general & internal medicineGenetics (clinical)media_commonGenetics & HeredityExabyteCHALLENGESMacrodadesCANCER3. Good healthAction planMolecular MedicineErratumLife Sciences & BiomedicineMedical GeneticsOpinion: Public health health care sciences & services [D22] [Human health sciences]MedicinaInformation DisseminationMECHANISMS03 medical and health sciencesFUTUREJournal ArticleGeneticsmedia_common.cataloged_instanceHumansKNOWLEDGEEuropean UnionEuropean unionMolecular BiologyMedicinsk genetik0604 GeneticsScience & Technologybusiness.industryInformation DisseminationHealth Plan Implementation1103 Clinical SciencesCAREData scienceData sharing030104 developmental biologyUNDIAGNOSED DISEASES NETWORKbusiness
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Mutant p53 induces Golgi tubulo-vesiculation driving a prometastatic secretome

2020

TP53 missense mutations leading to the expression of mutant p53 oncoproteins are frequent driver events during tumorigenesis. p53 mutants promote tumor growth, metastasis and chemoresistance by affecting fundamental cellular pathways and functions. Here, we demonstrate that p53 mutants modify structure and function of the Golgi apparatus, culminating in the increased release of a pro-malignant secretome by tumor cells and primary fibroblasts from patients with Li-Fraumeni cancer predisposition syndrome. Mechanistically, interacting with the hypoxia responsive factor HIF1α, mutant p53 induces the expression of miR-30d, which in turn causes tubulo-vesiculation of the Golgi apparatus, leading …

0301 basic medicineBiopsyGeneral Physics and AstronomyGolgi ApparatusAnimals Biopsy Breast Neoplasms Cell Line Tumor Cell Transformation Neoplastic Female Fibroblasts Gene Expression Regulation Neoplastic Golgi Apparatus Humans Hypoxia-Inducible Factor 1 alpha Subunit Li-Fraumeni Syndrome Mice MicroRNAs Microtubules Mutation Primary Cell Culture Secretory Vesicles Signal TransductionSkin Tumor Microenvironment Tumor Suppressor Protein p53 Xenograft Model Antitumor Assays02 engineering and technologymedicine.disease_causeCell TransformationMicrotubulesSettore BIO/09 - FisiologiaMetastasisLi-Fraumeni SyndromeMiceTumor MicroenvironmentGolgisecretory machinerySuper-resolution microscopyAnimals; Biopsy; Breast Neoplasms; Cell Line Tumor; Cell Transformation Neoplastic; Female; Fibroblasts; Gene Expression Regulation Neoplastic; Golgi Apparatus; Humans; Hypoxia-Inducible Factor 1 alpha Subunit; Li-Fraumeni Syndrome; Mice; MicroRNAs; Microtubules; Mutation; Primary Cell Culture; Secretory Vesicles; Signal Transduction; Skin; Tumor Microenvironment; Tumor Suppressor Protein p53; Xenograft Model Antitumor Assayslcsh:ScienceSkinMultidisciplinaryTumorChemistrymutant p53QCell migrationMicroRNASecretomics021001 nanoscience & nanotechnologyCell biologyGene Expression Regulation NeoplasticCell Transformation NeoplasticsymbolsFibroblastmiR-30dFemaleHypoxia-Inducible Factor 10210 nano-technologyBreast NeoplasmHumanSignal TransductionCancer microenvironmentStromal cellSecretory VesicleSciencePrimary Cell CultureBreast NeoplasmsMicrotubuleGolgi ApparatuSettore MED/08 - Anatomia Patologicaalpha SubunitGeneral Biochemistry Genetics and Molecular BiologyArticleCell Line03 medical and health sciencessymbols.namesakeCell Line TumormedicineAnimalsHumansSettore MED/05 - Patologia ClinicaSecretionTumor microenvironmentNeoplasticAnimalSecretory VesiclesGeneral ChemistryOncogenesGolgi apparatusHDAC6FibroblastsMicroreviewHypoxia-Inducible Factor 1 alpha SubunitmicroenvironmentXenograft Model Antitumor AssaysMicroRNAs030104 developmental biologyGene Expression RegulationMutationlcsh:QTumor Suppressor Protein p53Carcinogenesis
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Decreased consumption of branched-chain amino acids improves metabolic health

2016

Protein-restricted (PR), high-carbohydrate diets improve metabolic health in rodents, yet the precise dietary components that are responsible for these effects have not been identified. Furthermore, the applicability of these studies to humans is unclear. Here, we demonstrate in a randomized controlled trial that a moderate PR diet also improves markers of metabolic health in humans. Intriguingly, we find that feeding mice a diet specifically reduced in branched-chain amino acids (BCAAs) is sufficient to improve glucose tolerance and body composition equivalently to a PR diet via metabolically distinct pathways. Our results highlight a critical role for dietary quality at the level of amino…

0301 basic medicineBlood GlucoseMalemedicine.medical_specialtyAdipose Tissue WhiteAdipose tissueBiologybranched-chain amino acids (BCAAs)General Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciences0302 clinical medicineStress PhysiologicalInternal medicineInsulin-Secreting CellsGlucose IntolerancemedicineAnimalsHumansbiochemistryObesitylcsh:QH301-705.5Metabolic health2. Zero hungerchemistry.chemical_classificationgenetics and molecular biology (all)GluconeogenesisOrgan SizeMiddle Agedmedicine.diseaseObesityAmino acidFibroblast Growth FactorsMice Inbred C57BLProtein-restricted (PR)030104 developmental biologyEndocrinologyPharmacological interventionslcsh:Biology (General)BiochemistrychemistryGluconeogenesisDiet qualitybiochemistry; genetics and molecular biology (all)Dietary Proteins030217 neurology & neurosurgeryAmino Acids Branched-Chain
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