Search results for "YPO"

showing 10 items of 3644 documents

Characterization of a mutant form of human apolipoprotein B (Thr26_Tyr27del) associated with familial hypobetalipoproteinemia

2016

We have previously identified a deletion mutant of human apoB [apoB (Thr26_Tyr27del)] in a subject with primary hypobetalipoproteinemia. The present study determined the effect of Thr26_Tyr27del mutation on apoB secretion using transfected McA-RH7777 cells. Transient or stable transfection of apoB-48 containing the Thr26_Tyr27del mutation showed drastically reduced secretion of the mutant as compared to wild-type apoB-48. No lipoproteins containing the mutant apoB-48 were secreted into the medium. Incubation of transfected cells in a lipid-rich medium in the presence of cycloheximide showed rapid turnover of cell-associated mutant apoB-48 as compared to that of wild-type apoB-48. Immunofluo…

0301 basic medicineSettore MED/09 - Medicina InternaTime FactorsApolipoprotein B-48 secretionApolipoprotein BMutantDNA Mutational AnalysisApolipoprotein B mutation Apolipoprotein B-48 secretion Hypobetalipoproteinemia Proteasomal degradation030204 cardiovascular system & hematologymedicine.disease_causeEndoplasmic ReticulumHypobetalipoproteinemiaschemistry.chemical_compound0302 clinical medicineProteasomal degradationProteolysiSequence DeletionMutationbiologyMedicine (all)TransfectionProteasome InhibitorPhenotypeBiochemistryApolipoprotein B-100lipids (amino acids peptides and proteins)Proteasome InhibitorsHumanHeterozygoteProteasome Endopeptidase ComplexTime FactorCycloheximideTransfectiondigestive systemCell LineDNA Mutational Analysi03 medical and health sciencesmedicineHumansSecretionGenetic Predisposition to DiseaseMolecular BiologyEndoplasmic reticulumnutritional and metabolic diseasesCell Biologymedicine.diseaseMolecular biology030104 developmental biologychemistryProteolysisbiology.proteinHypobetalipoproteinemiaApolipoprotein B mutationApolipoprotein B-48Hypobetalipoproteinemia
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Combining multiple hypothesis testing with machine learning increases the statistical power of genome-wide association studies

2016

Mieth, Bettina et al.

0301 basic medicineStatistical methodsComputer scienceGenome-wide association studyMachine learningcomputer.software_genreGenome-wide association studiesStatistical powerArticle[INFO.INFO-AI]Computer Science [cs]/Artificial Intelligence [cs.AI]Set (abstract data type)03 medical and health sciences[INFO.INFO-LG]Computer Science [cs]/Machine Learning [cs.LG][MATH.MATH-ST]Mathematics [math]/Statistics [math.ST]10007 Department of EconomicsStatistical significanceReplication (statistics)genomeStatistical hypothesis testingGenetic association1000 MultidisciplinaryMultidisciplinarybusiness.industryComputational scienceInstitut für Mathematik330 EconomicsSupport vector machine030104 developmental biologyMultiple comparisons problemwide association studiesstatistical methodsArtificial intelligencebusinesscomputer
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Partitioned learning of deep Boltzmann machines for SNP data.

2016

Abstract Motivation Learning the joint distributions of measurements, and in particular identification of an appropriate low-dimensional manifold, has been found to be a powerful ingredient of deep leaning approaches. Yet, such approaches have hardly been applied to single nucleotide polymorphism (SNP) data, probably due to the high number of features typically exceeding the number of studied individuals. Results After a brief overview of how deep Boltzmann machines (DBMs), a deep learning approach, can be adapted to SNP data in principle, we specifically present a way to alleviate the dimensionality problem by partitioned learning. We propose a sparse regression approach to coarsely screen…

0301 basic medicineStatistics and ProbabilityComputer scienceMachine learningcomputer.software_genre01 natural sciencesBiochemistryPolymorphism Single NucleotideMachine Learning010104 statistics & probability03 medical and health sciencessymbols.namesakeJoint probability distributionHumans0101 mathematicsMolecular BiologyStatistical hypothesis testingArtificial neural networkbusiness.industryGene Expression Regulation LeukemicDeep learningUnivariateComputational BiologyManifoldComputer Science ApplicationsData setComputational Mathematics030104 developmental biologyComputingMethodologies_PATTERNRECOGNITIONComputational Theory and MathematicsLeukemia MyeloidBoltzmann constantsymbolsData miningArtificial intelligencebusinesscomputerSoftwareCurse of dimensionalityBioinformatics (Oxford, England)
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Multiplicity- and dependency-adjusted p-values for control of the family-wise error rate

2016

Abstract Under the multiple testing framework, we propose the multiplicity- and dependency-adjustment method (MADAM) which transforms test statistics into adjusted p -values for control of the family-wise error rate. For demonstration, we apply the MADAM to data from a genetic association study.

0301 basic medicineStatistics and ProbabilityWord error rateMultiplicity (mathematics)Familywise error rateMadam01 natural sciences010104 statistics & probability03 medical and health sciences030104 developmental biologyStatisticsMultiple comparisons problemŠidák correctionPer-comparison error rate0101 mathematicsStatistics Probability and UncertaintyMathematicsStatistical hypothesis testingStatistics & Probability Letters
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Pitfalls of hypothesis tests and model selection on bootstrap samples: Causes and consequences in biometrical applications

2015

The bootstrap method has become a widely used tool applied in diverse areas where results based on asymptotic theory are scarce. It can be applied, for example, for assessing the variance of a statistic, a quantile of interest or for significance testing by resampling from the null hypothesis. Recently, some approaches have been proposed in the biometrical field where hypothesis testing or model selection is performed on a bootstrap sample as if it were the original sample. P-values computed from bootstrap samples have been used, for example, in the statistics and bioinformatics literature for ranking genes with respect to their differential expression, for estimating the variability of p-v…

0301 basic medicineStatistics and Probabilityeducation.field_of_studyComputer scienceModel selectionBootstrap aggregatingPopulationGeneral MedicineAsymptotic theory (statistics)01 natural sciences010104 statistics & probability03 medical and health sciences030104 developmental biologyResamplingStatisticsEconometrics0101 mathematicsStatistics Probability and UncertaintyeducationNull hypothesisQuantileStatistical hypothesis testingBiometrical Journal
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Circadian Rhythm Variations and Nutrition in Children

2018

AbstractCircadian rhythms are the changes in biological processes that occur on a daily basis. Among these processes are reactions involved in metabolic homeostasis. Circadian rhythms are structured by the central clock in the suprachiasmatic nucleus of the hypothalamus via the control of melatonin expression. Circadian rhythms are also controlled by the peripheral clocks, which are intracellular mechanisms composed of the clock genes, whose expression follows a circadian pattern. Circadian rhythms are impacted by signals from the environment called zeitgebers, or time givers, which include light exposure, feeding schedule and composition, sleeping schedule and pattern, temperature, and phy…

0301 basic medicineSuprachiasmatic nucleusMetabolic homeostasisBiologyMelatoninCLOCK03 medical and health sciences030104 developmental biology0302 clinical medicineHypothalamusPediatrics Perinatology and Child HealthZeitgebermedicineSurgeryCircadian rhythmNeuroscience030217 neurology & neurosurgerymedicine.drugLight exposureJournal of Child Science
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Hypoxia-Induced miR-675-5p Supports β-Catenin Nuclear Localization by Regulating GSK3-β  Activity in Colorectal Cancer Cell Lines

2020

The reduction of oxygen partial pressure in growing tumors triggers numerous survival strategies driven by the transcription factor complex HIF1 (Hypoxia Inducible Factor-1). Recent evidence revealed that HIF1 promotes rapid and effective phenotypic changes through the induction of non-coding RNAs, whose contribution has not yet been fully described. Here we investigated the role of the hypoxia-induced, long non-coding RNA H19 (lncH19) and its intragenic miRNA (miR-675-5p) into HIF1-Wnt crosstalk. During hypoxic stimulation, colorectal cancer cell lines up-regulated the levels of both the lncH19 and its intragenic miR-675-5p. Loss of expression experiments revealed that miR-675-5p inhibitio…

0301 basic medicineTranscription factor complexKaplan-Meier Estimatelcsh:Chemistry0302 clinical medicineGSK-3poxiahylcsh:QH301-705.5long non-coding H19Spectroscopybeta CateninKinaseChemistryGeneral MedicineCell HypoxiaComputer Science ApplicationsCell biologyGene Expression Regulation Neoplastic030220 oncology & carcinogenesisColorectal NeoplasmsProtein BindingActive Transport Cell Nucleuscolorectal cancermiR-675TransfectionCatalysisArticleInorganic Chemistry03 medical and health sciencesCell Line TumormicroRNAGene silencingHumansPhysical and Theoretical ChemistryMolecular BiologyGlycogen Synthase Kinase 3 betahypoxiaOrganic ChemistryRNAComputational Biologyβ-cateninHCT116 CellsMicroRNAs030104 developmental biologylcsh:Biology (General)lcsh:QD1-999Microscopy FluorescenceCateninMutationNuclear localization sequenceInternational Journal of Molecular Sciences
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Surge of Peripheral Arginine Vasopressin in a Rat Model of Birth Asphyxia

2018

Mammalian birth is accompanied by a period of obligatory asphyxia, which consists of hypoxia (drop in blood O2 levels) and hypercapnia (elevation of blood CO2 levels). Prolonged, complicated birth can extend the asphyxic period, leading to a pathophysiological situation, and in humans, to the diagnosis of clinical birth asphyxia, the main cause of hypoxic-ischemic encephalopathy (HIE). The neuroendocrine component of birth asphyxia, in particular the increase in circulating levels of arginine vasopressin (AVP), has been extensively studied in humans. Here we show for the first time that normal rat birth is also accompanied by an AVP surge, and that the fetal AVP surge is further enhanced in…

0301 basic medicineVasopressinmedicine.medical_specialtySTRESSArgininehypothalamic-pituitary axis (HPA axis)blood gasesHYPOXIAbirth asphyxia3124 Neurology and psychiatrylcsh:RC321-571neonatal03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineCopeptinInternal medicineMedicineBRAINlcsh:Neurosciences. Biological psychiatry. NeuropsychiatryPRECURSORNEURONSperinatalOriginal ResearchRELEASEAsphyxiaFetusPARAVENTRICULAR NUCLEUSbusiness.industry3112 NeurosciencescopeptinENCEPHALOPATHYarginine vasopressin (AVP)Hypoxia (medical)base deficit030104 developmental biologyEndocrinologyHypothalamusHYPOTHALAMUSmedicine.symptombusinessHypercapnia030217 neurology & neurosurgeryNeuroscienceFrontiers in Cellular Neuroscience
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Brain Control of Plasma Cholesterol Involves Polysialic Acid Molecules in the Hypothalamus

2017

IF 3.566; International audience; The polysialic acid (PSA) is a large glycan that is added to cell-surface proteins during their post-translational maturation. In the brain, PSA modulates distances between cells and controls the plasticity of the nervous system. In the hypothalamus, PSA is involved in many aspects of energy balance including food intake, osmoregulation, circadian rhythm, and sleep. In this work, we investigated the role of hypothalamic PSA in the regulation of plasma cholesterol levels and distribution. We report that HFD consumption in mice rapidly increased plasma cholesterol, including VLDL, LDL, and HDL-cholesterol. Although plasma VLDL-cholesterol was normalized withi…

0301 basic medicineVery low-density lipoprotein[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiologyurologic and male genital diseaseschemistry.chemical_compound0302 clinical medicinemaladie cardiovasculairehypothalamusOriginal Research[SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism2. Zero hungerGeneral Neurosciencecholestérol[ SDV.MHEP.EM ] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismHypothalamus[ SDV.NEU.NB ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyAlimentation et NutritionOsmoregulationcerveaulipids (amino acids peptides and proteins)medicine.medical_specialtypolysialic acidHDLBiologylcsh:RC321-571LDL03 medical and health sciencespolysialic acid;hypothalamus;atherosclerosis;HDL;LDL;synaptic plasticityInternal medicinemedicineFood and NutritionCircadian rhythmlcsh:Neurosciences. Biological psychiatry. Neuropsychiatrysynaptic plasticityCholesterolPolysialic acidNeurosciencesathérosclérose[SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiologynutritional and metabolic diseasesmedicine.disease030104 developmental biologyEndocrinologychemistryNeurons and Cognitionatherosclerosis030217 neurology & neurosurgeryDyslipidemiaHomeostasisNeuroscienceFrontiers in Neuroscience
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An outbreak ofShewanella putrefaciensgroup in wild eelsAnguilla anguillaL. favoured by hypoxic aquatic environments

2016

Microbiological analyses were conducted on wild eels from the L′Albufera Lake (Spain). A total of 174 individuals were collected in two surveys (i.e. year 2008 and autumn–winter 2014) among those caught by local fishermen into the lagoon. The prevalence of Shewanella putrefaciens group was 1.7% in 2008 and rose above 32% in 2014. It was due to an outbreak of shewanellosis that presented a morbidity rate of 64%. S. putrefaciens group strains were isolated as pure cultures from the sick eels that showed white ulcers surrounded by a reddish inflammation, damage of the mouth, extensive skin discoloration, exophthalmia, ascites and bad odour. The S. putrefaciens group was recovered from freshwat…

0301 basic medicineVeterinary medicineVeterinary (miscellaneous)Fresh WaterShewanella putrefaciensAquatic ScienceBiologyShewanella putrefaciensBody weightDisease OutbreaksFish Diseases03 medical and health sciencesAnimalsAnaerobiosisCumulative mortalityEcologyAquatic ecosystemMortality rateOutbreakHypoxia (environmental)04 agricultural and veterinary sciencesAnguillabiology.organism_classification030104 developmental biologySpain040102 fisheries16s rrna gene sequencing0401 agriculture forestry and fisheriesSeasonsGram-Negative Bacterial InfectionsJournal of Fish Diseases
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