Search results for "CKD"

showing 10 items of 258 documents

MECP2 impairs neuronal structure by regulating KIBRA

2016

Using a Drosophila model of MECP2 gain-of-function, we identified memory associated KIBRA as a target of MECP2 in regulating dendritic growth. We found that expression of human MECP2 increased kibra expression in Drosophila, and targeted RNAi knockdown of kibra in identified neurons fully rescued dendritic defects as induced by MECP2 gain-of-function. Validation in mouse confirmed that Kibra is similarly regulated by Mecp2 in a mammalian system. We found that Mecp2 gain-of-function in cultured mouse cortical neurons caused dendritic impairments and increased Kibra levels. Accordingly, Mecp2 loss-of-function in vivo led to decreased Kibra levels in hippocampus, cortex, and cerebellum. Togeth…

0301 basic medicinecongenital hereditary and neonatal diseases and abnormalitiesCerebellumMethyl-CpG-Binding Protein 2Dendritic morphologyHippocampusDisease modelsHippocampusArticlelcsh:RC321-571MECP2Mice03 medical and health sciencesMemoryRNA interferencemental disordersmedicineAnimalsHumanslcsh:Neurosciences. Biological psychiatry. NeuropsychiatryCerebral CortexNeuronsGene knockdownMECP2 duplication syndromebiologybiology.organism_classificationMECP2nervous system diseasesCortex (botany)Disease Models AnimalDrosophila melanogaster030104 developmental biologymedicine.anatomical_structureNeurologyCerebral cortexDrosophilaDrosophila melanogasterNeuroscienceNeurobiology of Disease
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Mapping gene regulatory circuitry of Pax6 during neurogenesis.

2016

AbstractPax6 is a highly conserved transcription factor among vertebrates and is important in various aspects of the central nervous system development. However, the gene regulatory circuitry of Pax6 underlying these functions remains elusive. We find that Pax6 targets a large number of promoters in neural progenitors cells. Intriguingly, many of these sites are also bound by another progenitor factor, Sox2, which cooperates with Pax6 in gene regulation. A combinatorial analysis of Pax6-binding data set with transcriptome changes in Pax6-deficient neural progenitors reveals a dual role for Pax6, in which it activates the neuronal (ectodermal) genes while concurrently represses the mesoderma…

0301 basic medicineendocrine systemNeurogenesisBiologyBiochemistryArticle03 medical and health sciencesSOX2GeneticsMolecular BiologyTranscription factorGeneRegulation of gene expressionGeneticsGene knockdownNeurogenesisPromoterCell BiologyNeural progenitorseye diseasesChromatinCell biologyGene regulation030104 developmental biologyPAX6sense organsTranscription FactorsCell discovery
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Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster

2016

AbstractAbout two-thirds of the vital genes in the Drosophila genome are involved in eye development, making the fly eye an excellent genetic system to study cellular function and development, neurodevelopment/degeneration, and complex diseases such as cancer and diabetes. We developed a novel computational method, implemented as Flynotyper software (http://flynotyper.sourceforge.net), to quantitatively assess the morphological defects in the Drosophila eye resulting from genetic alterations affecting basic cellular and developmental processes. Flynotyper utilizes a series of image processing operations to automatically detect the fly eye and the individual ommatidium, and calculates a phen…

0301 basic medicinegenetic structuresNeurogenesisComputational biologyInvestigationsQH426-470EyeAnimals Genetically Modified03 medical and health sciences0302 clinical medicineOmmatidiumGeneticsAnimalsDrosophila Proteinshuman disease modelsEnhancerMolecular BiologyGeneGenetics (clinical)Genetic Association StudiesGeneticsGene knockdownbiologyModels Geneticneurodevelopmental disordersReproducibility of Resultsbiology.organism_classificationommatidiaPhenotypeeye diseases030104 developmental biologyPhenotypeDrosophila melanogastermodifier screensrough eyeGene Knockdown TechniquesEye developmentsense organsDrosophila melanogaster030217 neurology & neurosurgeryDrosophila ProteinFunction (biology)AlgorithmsG3: Genes, Genomes, Genetics
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Long Non-coding Antisense RNA TNRC6C-AS1 Is Activated in Papillary Thyroid Cancer and Promotes Cancer Progression by Suppressing TNRC6C Expression

2018

Context: Evidences have shown the important role of long non-coding antisense RNAs in regulating its cognate sense gene in cancer biology. Objective: Investigate the regulatory role of a long non-coding antisense RNA TNRC6C-AS1 on its sense partner TNRC6C, and their effects on the aggressiveness and iodine-uptake ability of papillary thyroid cancer (PTC). Design: TNRC6C-AS1 was identified as the target long non-coding RNA in PTC by using microarray analysis and computational analysis. In vitro gain/loss-of-function experiments were performed to investigate the effects of TNRC6C-AS1 and TNRC6C on proliferation, apoptosis, migration, invasion and iodine-uptake ability of TPC1 cells. Expressio…

0301 basic medicinelong non-coding antisense RNAendocrine system diseasesEndocrinology Diabetes and MetabolismTNRC6C-AS1lcsh:Diseases of the endocrine glands. Clinical endocrinologyPapillary thyroid cancer03 medical and health sciencesEndocrinology0302 clinical medicineDownregulation and upregulationSense (molecular biology)medicinepapillary thyroid cancerTNRC6COriginal Researchiodine accumulationGene knockdownMessenger RNAlcsh:RC648-665ChemistryMicroarray analysis techniquesRNAmedicine.diseaseAntisense RNA030104 developmental biology030220 oncology & carcinogenesisCancer researchFrontiers in Endocrinology
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Effects of a ketogenic diet in overweight women with polycystic ovary syndrome.

2019

Abstract Background Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women during reproductive age. It is characterised clinically by oligo-ovulation or anovulation, hyper-androgenism, and the presence of polycystic ovaries. It is associated with an increased prevalence of metabolic syndrome, cardiovascular disease and type 2 diabetes. The onset of PCOS has been associated to several hereditary and environmental factors, but insulin resistance plays a key pathogenetic role. We sought to investigate the effects of a ketogenic diet (KD) on women of childbearing age with a diagnosis of PCOS. Methods Fourteen overweight women with diagnosis of PCOS underwent to a ketoge…

0301 basic medicinemedicine.medical_specialtyLow carbohydrate dietlcsh:Medicine030209 endocrinology & metabolismType 2 diabetesGeneral Biochemistry Genetics and Molecular BiologyBody Mass IndexAnovulation03 medical and health sciencesFollicle-stimulating hormoneHyperinsulinemia0302 clinical medicineSex hormone-binding globulinInsulin resistanceInternal medicinemedicinePCOSHumansInsulin030109 nutrition & dieteticsbiologybusiness.industryHyperinsulinemia Ketogenic diet Ketone bodies LCKD Low carbohydrate diet Overweight PCOSResearchlcsh:Rnutritional and metabolic diseasesGeneral MedicineLuteinizing HormoneOverweightKetogenic dietmedicine.diseaseLCKDPolycystic ovaryEndocrinologyDiabetes Mellitus Type 2Hyperinsulinemia; Ketogenic diet; Ketone bodies; LCKD; Low carbohydrate diet; Overweight; PCOSbiology.proteinLean body massKetone bodiesFemaleMetabolic syndromeInsulin ResistancebusinessDiet KetogenicSettore M-EDF/01 - Metodi E Didattiche Delle Attivita' MotoriePolycystic Ovary SyndromeJournal of translational medicine
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Aggravated Atherosclerosis and Vascular Inflammation With Reduced Kidney Function Depend on Interleukin-17 Receptor A and Are Normalized by Inhibitio…

2018

Visual Abstract

0301 basic medicinemedicine.medical_specialtylcsh:Diseases of the circulatory (Cardiovascular) systemIl17ra interleukin-17 receptor A (gene name)medicine.medical_treatmentInterleukin-17 receptormacrophage030204 cardiovascular system & hematologyLesionPRECLINICAL RESEARCH03 medical and health sciencesPCR polymerase chain reaction0302 clinical medicineInternal medicinemedicineMacrophageReceptorbusiness.industryCKD chronic kidney diseaseLDLr low-density lipoprotein receptorIL interleukinBlockadeEndothelial stem cell030104 developmental biologyEndocrinologyCytokinelcsh:RC666-701Interleukin 17medicine.symptomatherosclerosisCardiology and Cardiovascular Medicinebusinessinterleukin 17chronic kidney diseaseJACC: Basic to Translational Science
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Insulin Dissociates the Effects of Liver X Receptor on Lipogenesis, Endoplasmic Reticulum Stress, and Inflammation

2016

IF 4.258; International audience; Diabetes is characterized by increased lipogenesis as well as increased endoplasmic reticulum (ER) stress and inflammation. The nuclear hormone receptor liver X receptor (LXR) is induced by insulin and is a key regulator of lipid metabolism. It promotes lipogenesis and cholesterol efflux, but suppresses endoplasmic reticulum stress and inflammation. The goal of these studies was to dissect the effects of insulin on LXR action. We used antisense oligonucleotides to knock down Lxr alpha in mice with hepatocytespecific deletion of the insulin receptor and their controls. We found, surprisingly, that knock-out of the insulin receptor and knockdown of Lxr alpha …

0301 basic medicinemedicine.medical_treatmentLipid-metabolismResistanceBiochemistryHepatitisMESH: HepatitisMESH: Endoplasmic Reticulum Stresspolycyclic compoundsInsulinGene-expressionPhospholipidsLiver X ReceptorsMice KnockoutbiologyMESH : Gene Expression RegulationFatty-acid synthesisfood and beveragesEndoplasmic Reticulum StressOrphan Nuclear ReceptorsCultured-cellsLipidsMESH: Gene Expression RegulationMESH : Endoplasmic Reticulum StressMessenger-rnaLiverMESH: Orphan Nuclear ReceptorsGene Knockdown TechniquesLipogenesisFemalelipids (amino acids peptides and proteins)Signal Transductionliver X receptormedicine.medical_specialtyLxr-alphaMice Transgenicdigestive systemPhospholipid transfer proteinGene Expression Regulation Enzymologic03 medical and health sciencesInsulin resistanceMESH : HepatitisLysophosphatidylcholine acyltransferaseInternal medicinemedicineAnimals[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular BiologyLiver X receptorMolecular Biology[ SDV.BBM ] Life Sciences [q-bio]/Biochemistry Molecular BiologyCrosses GeneticLipogenesisEndoplasmic reticulumInsulinElement-binding protein-1cMESH : LiverCell Biologymedicine.diseaseMESH : Orphan Nuclear ReceptorsReceptor InsulinMice Inbred C57BLInsulin receptor030104 developmental biologyEndocrinologyDiabetes Mellitus Type 2Gene Expression RegulationNuclear receptorbiology.proteinUnfolded protein responseInsulin ResistanceMESH: Liver
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Ca2+ signalling plays a role in celastrol‐mediated suppression of synovial fibroblasts of rheumatoid arthritis patients and experimental arthritis in…

2019

Background and purpose Celastrol exhibits anti-arthritic effects in rheumatoid arthritis (RA), but the role of celastrol-mediated Ca2+ mobilization in treatment of RA remains undefined. Here, we describe a regulatory role for celastrol-induced Ca2+ signalling in synovial fibroblasts of RA patients and adjuvant-induced arthritis (AIA) in rats. Experimental approach We used computational docking, Ca2+ dynamics and functional assays to study the sarcoplasmic/endoplasmic reticulum Ca2+ ATPase pump (SERCA). In rheumatoid arthritis synovial fibroblasts (RASFs)/rheumatoid arthritis fibroblast-like synoviocytes (RAFLS), mechanisms of Ca2+ -mediated autophagy were analysed by histological, immunohis…

0301 basic medicinemusculoskeletal diseasesMaleProgrammed cell deathSERCAArthritisSarcoplasmic Reticulum Calcium-Transporting ATPasesArthritis RheumatoidRats Sprague-Dawley03 medical and health scienceschemistry.chemical_compound0302 clinical medicineBAPTAmedicineAutophagyAnimalsHumansCalcium SignalingCells CulturedPharmacologyMice KnockoutGene knockdownbiologyChemistrySynovial MembraneCalpainFibroblastsmedicine.diseaseResearch PapersArthritis ExperimentalTriterpenesCalcineurin030104 developmental biologyGene Expression RegulationCelastrolbiology.proteinCancer researchPentacyclic Triterpenes030217 neurology & neurosurgeryResearch PaperBritish Journal of Pharmacology
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zHSF1 modulates zper2 expression in zebrafish embryos

2018

International audience; HSF1 is a transcription factor that plays a key role in circadian resetting by temperature. We have used zebrafish embryos to decipher the roles of zHsf1, heat and light on zper2 transcription in vivo. Our results show that heat shock (HS) stimulated zper2 expression in the dark but has no cumulative effect combined with light. After light exposition, zper2 expression was 2.7 fold increased threefold in the hsf1-morphants in comparison to control embryos. Our results show that zHsf1 plays a positive role in HS-driven expression of zper2 in the dark but seems to act as an attenuator in the presence light.

0301 basic medicinezHSF1Physiologycrispants03 medical and health sciencesHeat Shock Transcription FactorsTranscription (biology)In vivoPhysiology (medical)AnimalsCircadian rhythm[ SDV.BDD ] Life Sciences [q-bio]/Development BiologyEye ProteinsHSF1ZebrafishTranscription factorzper2biologyChemistryfungiGene Expression Regulation DevelopmentalEmbryoPeriod Circadian ProteinsZebrafish Proteinsbiology.organism_classificationzebrafishCircadian RhythmCell biology030104 developmental biologyZebrafish embryomorpholino knockdown
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Endogenous Myoglobin in Breast Cancer Is Hypoxia-inducible by Alternative Transcription and Functions to Impair Mitochondrial Activity

2011

Recently, immunohistochemical analysis of myoglobin (MB) in human breast cancer specimens has revealed a surprisingly widespread expression of MB in this nonmuscle context. The positive correlation with hypoxia-inducible factor 2α (HIF-2α) and carbonic anhydrase IX suggested that oxygen regulates myoglobin expression in breast carcinomas. Here, we report that MB mRNA and protein levels are robustly induced by prolonged hypoxia in breast cancer cell lines, in part via HIF-1/2-dependent transactivation. The hypoxia-induced MB mRNA originated from a novel alternative transcription start site 6 kb upstream of the ATG codon. MB regulation in normal and tumor tissue may thus be fundamentally diff…

0303 health sciencesGene knockdownTumor suppressor geneCell growthCellCell BiologyBiologyMitochondrionBiochemistryMolecular biology03 medical and health sciencesTransactivation0302 clinical medicinemedicine.anatomical_structure030220 oncology & carcinogenesisCancer cellmedicineCancer researchGene silencingMolecular Biology030304 developmental biologyJournal of Biological Chemistry
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