Search results for "Oncogene"

showing 10 items of 1005 documents

Medullary thyroid carcinoma in a 2-month-old male with multiple endocrine neoplasia 2B and symptoms of pseudo-Hirschsprung disease: a case report

2007

A 5-week-old male patient was seen for symptoms suggestive of Hirschsprung disease (abdominal distension, failure to thrive, and explosive defecation). Rectum biopsies revealed an intestinal ganglioneuromatosis, which is usually associated with multiple endocrine neoplasia (MEN) syndrome type 2B. The ensuing molecular genetic analysis revealed a M918T mutation of the RET protooncogene, which is associated with early-onset medullary thyroid carcinoma (MTC). Therefore, total thyroidectomy and central lymphadenectomy were performed at the age of 9 weeks. Histology showed a medullary microcarcinoma. This report of MTC occurrence within the first weeks of life underlines the importance of early …

Malemedicine.medical_specialtyPathologyendocrine system diseasesMedullary cavitymedicine.medical_treatmentRectumMultiple Endocrine Neoplasia Type 2bGastroenterologyThyroid carcinomaInternal medicineDiseases in TwinsHumansMedicineHirschsprung DiseaseThyroid NeoplasmsMultiple endocrine neoplasiaMegacolonbusiness.industryProto-Oncogene Proteins c-retThyroidectomyInfantGeneral MedicineAbdominal distensionmedicine.diseasemedicine.anatomical_structureCarcinoma MedullaryPediatrics Perinatology and Child HealthFailure to thriveThyroidectomySurgerymedicine.symptombusinessJournal of Pediatric Surgery
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A premature infant with Costello syndrome due to a rare G13C HRAS mutation.

2009

Costello syndrome is caused by mutations in the HRAS proto-oncogene whose clinical features in the first year of life include fetal and neonatal macrosomia with subsequent growth impairment due to severe feeding difficulties. We report on a premature male with Costello syndrome due to a rare G13C HRAS mutation and describe his clinical features and evolution during the first year of life. The diagnosis of Costello syndrome may be difficult at birth, especially in very preterm infants in whom feeding difficulties, reduced subcutaneous adipose tissue and failure to thrive are also part of their typical presentation.

Malemedicine.medical_specialtyPediatricsDevelopmental DisabilitiesProto-Oncogene MasprematureSettore MED/38 - Pediatria Generale E SpecialisticaCostello syndromePregnancyInternal medicineIntellectual DisabilityGeneticsmedicineHumansHRASGenetics (clinical)FetusPregnancybusiness.industryInfant NewbornNucleic acid amplification techniqueDNASyndromemedicine.diseaseEndocrinologyGenes rasSettore MED/03 - Genetica MedicaFailure to thriveMutation (genetic algorithm)MutationFemalePresentation (obstetrics)medicine.symptombusinessNucleic Acid Amplification TechniquesInfant PrematureAmerican journal of medical genetics. Part A
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Long-term expression of differentiated functions in hepatocytes cultured in three-dimensional collagen matrix.

1998

Hepatocytes entrapped in collagen gel and cultured in serum-free conditions survived longer than cells cultured on plastic (5 days vs. 3 weeks), showed fewer signs of early cell senescence (no increase in c-fos oncoprotein expression), and maintained the expression of differentiated hepatic metabolic functions over a longer period of time. Cells cultured in collagen gels retained their ability to respond to hormones. The insulin-stimulated glycogen synthesis rate remained fairly constant during 18 days in culture (between 5.4 +/- 0.37 and 9 +/- 2.7 nmol glucose/h/microg DNA). Collagen-cultured hepatocytes recovered glycogen stores to levels similar to those found in liver, or in hepatocytes…

Malemedicine.medical_specialtyPhysiologyCellular differentiationClinical BiochemistryCell Culture TechniquesIsozymeCulture Media Serum-FreeRats Sprague-Dawleychemistry.chemical_compoundCytochrome P-450 Enzyme SystemInternal medicinemedicineAnimalsInsulinUreaRNA MessengerEnzyme inducerGlycogen synthaseBiotransformationCells CulturedbiologyGlycogenReverse Transcriptase Polymerase Chain ReactionGenes fosCell DifferentiationCell BiologyGlutathioneMolecular biologyExtracellular MatrixLiver GlycogenRatsIsoenzymesEndocrinologychemistryGene Expression RegulationLiverPharmaceutical PreparationsCell cultureEnzyme InductionMethylcholanthrenebiology.proteinMicrosomes LiverHepatocytesCollagenProto-Oncogene Proteins c-fosTranscription Factors
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Distribution of basal-expressed c-fos-like immunoreactive cells of the periaqueductal grey matter of the rat.

1996

The distribution of c-fos proto-oncogene expression has been studied in the periaqueductal grey matter (PAG) of non-intentional-stimulated rats by immunohistochemistry. A mean number of 53 +/- 9 Fos-like immunoreactive cells per hemiPAG, distributed into three groups, dorsolateral, lateral and ventrolateral, was found. The dorsolateral and the lateral groups appeared along the entire rostrocaudal PAG, whereas the ventrolateral group appeared only in the caudal half. These results reveal new data on the number and extent of the longitudinal columns within the hypothetical organization of the PAG. They also indicate a continuous activation of a significant population of neurones in the PAG, i…

Malemedicine.medical_specialtyPopulationCentral nervous systemPeriaqueductal greyDorsolateralc-FosBasal (phylogenetics)Internal medicinemedicineDistribution (pharmacology)AnimalsPeriaqueductal GrayRats Wistareducationeducation.field_of_studybiologyChemistryGeneral NeuroscienceAnatomyImmunohistochemistryRatsEndocrinologymedicine.anatomical_structurenervous systembiology.proteinImmunohistochemistryFemaleProto-Oncogene Proteins c-fosNeuroreport
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Benfotiamine accelerates the healing of ischaemic diabetic limbs in mice through protein kinase B/Akt-mediated potentiation of angiogenesis and inhib…

2006

Benfotiamine, a vitamin B1 analogue, reportedly prevents diabetic microangiopathy. The aim of this study was to evaluate whether benfotiamine is of benefit in reparative neovascularisation using a type I diabetes model of hindlimb ischaemia. We also investigated the involvement of protein kinase B (PKB)/Akt in the therapeutic effects of benfotiamine. Streptozotocin-induced diabetic mice, given oral benfotiamine or vehicle, were subjected to unilateral limb ischaemia. Reparative neovascularisation was analysed by histology. The expression of Nos3 and Casp3 was evaluated by real-time PCR, and the activation state of PKB/Akt was assessed by western blot analysis and immunohistochemistry. The f…

Malemedicine.medical_specialtyProgrammed cell deathAngiogenesisEndocrinology Diabetes and MetabolismBlotting WesternNeovascularization PhysiologicApoptosisMice Inbred StrainsBiologyDiabetes Mellitus ExperimentalNeovascularizationMiceRandom AllocationIschemiaInternal medicineInternal MedicinemedicineAnimalsThiamineMuscle SkeletalProtein kinase BCell ProliferationCaspase 3Stem Cellsprotein kinase PKB/AktBody WeightHemodynamicsEndothelial CellsCaspase InhibitorsImmunohistochemistryEndothelial stem cellEnzyme ActivationOxidative StressEndocrinologyBenfotiamineApoptosisCaspasesDietary SupplementsTransketolase activitymedicine.symptomProto-Oncogene Proteins c-aktDiabetic Angiopathiesmedicine.drugDiabetologia
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Role of the basolateral amygdala in retrieval of conditioned flavors in the awake rat.

2014

International audience; Learned association between odor, taste and further post-ingestive consequence is known as flavor nutrient conditioned preference. Amygdala is supposed to be one of the areas involved in these associations. In the present study, one flavor was associated with a 16% glucose (CS+) whereas another flavor was paired with less reinforcing 4% glucose (CS-). We showed that CS+ presentation after conditioning increased Fos expression in the basolateral nucleus of amygdala (BLA). Furthermore, we performed electrophysiological recordings in the BLA in free moving rats. After preference acquisition, rats were exposed to either the CS+ or the CS-. The proportion of neurons showi…

Malemedicine.medical_specialtyTasteAction PotentialsAmygdalaPreference03 medical and health sciencesBehavioral NeuroscienceEatingFood Preferences0302 clinical medicineInternal medicine[SDV.IDA]Life Sciences [q-bio]/Food engineeringConditioning PsychologicalmedicineAnimals[SPI.GPROC]Engineering Sciences [physics]/Chemical and Process EngineeringRats WistarFlavor030304 developmental biologyNeurons0303 health sciencesBasolateral Nuclear Complexfood and beveragesTaste PerceptionSignal Processing Computer-AssistedAmygdalaFlavorImmunohistochemistryElectrodes ImplantedElectrophysiologyElectrophysiologymedicine.anatomical_structureEndocrinologyGlucoseOncogene Proteins v-fosOdorAwake ratConditioningPsychologyFood DeprivationNeuroscienceNucleus030217 neurology & neurosurgeryBasolateral amygdalaConditioningBehavioural brain research
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Delayed effects of ciprofibrate on rat liver peroxisomal properties and proto-oncogene expression.

1995

Peroxisome proliferators (PPs) are non-genotoxic carcinogens in rodents. Their reversible effects on rat liver have been studied with ciprofibrate and fenofibrate. We found that with the hypolipemic drug fenofibrate a pause of 28 days is sufficient for a return to normal status, whereas with the highly potent PP ciprofibrate, the stimulation of ACO mRNA levels remains after its withdrawal. We investigated the effects of the renewal of the treatment with PPs on other peroxisomal parameters and proto-oncogene expression using Wistar rats. Interestingly, c-myc expression was enhanced even upon drug withdrawal, and was more stimulated by the second exposure to ciprofibrate, while c-fos expressi…

Malemedicine.medical_specialtyTime FactorseducationStimulationMitochondria LiverBiologyBiochemistryMicrobodiesDrug withdrawalClofibric AcidFenofibrateInternal medicineProto-Oncogene ProteinsGene expressionmedicineAnimalsRats WistarCarcinogenPharmacologyFenofibrateOncogeneFibric AcidsPeroxisomemedicine.diseaseRatsEndocrinologyLiverMicrosomes LiverCiprofibrateAcyl-CoA OxidaseOxidoreductasesmedicine.drugBiochemical pharmacology
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Mating Increases Neuronal Tyrosine Hydroxylase Expression and Selectively Gates Transmission of Male Chemosensory Information in Female Mice

2013

Exposure to chemosensory signals from unfamiliar males can terminate pregnancy in recently mated female mice. The number of tyrosine hydroxylase-positive neurons in the main olfactory bulb has been found to increase following mating and has been implicated in preventing male-induced pregnancy block during the post-implantation period. In contrast, pre-implantation pregnancy block is mediated by the vomeronasal system, and is thought to be prevented by selective inhibition of the mate's pregnancy blocking chemosignals, at the level of the accessory olfactory bulb. The objectives of this study were firstly to identify the level of the vomeronasal pathway at which selective inhibition of the m…

Malemedicine.medical_specialtyTyrosine 3-MonooxygenaseVomeronasal organDopaminelcsh:MedicineBiologySynaptic TransmissionAmygdalaPheromonesMiceSexual Behavior Animal03 medical and health sciences0302 clinical medicinePregnancyDopamineInternal medicinemedicineAnimalsEmbryo ImplantationTyrosineMatinglcsh:Science030304 developmental biologyNeuronsMice Inbred BALB C0303 health sciencesMultidisciplinaryTyrosine hydroxylaselcsh:RDopaminergicArcuate Nucleus of HypothalamusAmygdalaOlfactory BulbOlfactory bulbMice Inbred C57BLEndocrinologymedicine.anatomical_structureGene Expression RegulationFemalelcsh:QVomeronasal OrganProto-Oncogene Proteins c-fos030217 neurology & neurosurgeryResearch Articlemedicine.drugPLoS ONE
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The effect of RAAS blockade on markers of renal tubular damage in diabetic nephropathy: u-NGAL, u-KIM1 and u-LFABP.

2012

Blockade of the renin-angiotensin-aldosterone system (RAAS) affects both the glomerulus and tubules. We aimed to investigate the effect of irbesartan on the tubular markers: urinary (u) neutrophil gelatinase associated protein (NGAL), Kidney injury molecule 1 (KIM1) and liver-fatty acid-binding protein (LFABP).A substudy of a double-masked, randomized, cross-over study including 52 patients with type 2 diabetes, hypertension and microalbuminuria. After 2 months washout of all antihypertensive medication except bendroflumethiazid, patients were treated in random order with irbesartan 300, 600 and 900 mg for 2 months.Urinary tubular markers at baseline and after each treatment period (ELISA),…

Malemedicine.medical_specialtyUrinary systemClinical BiochemistryUrologyRenal functionEnzyme-Linked Immunosorbent AssayType 2 diabetesurologic and male genital diseasesFatty Acid-Binding ProteinsDiabetic nephropathyRenin-Angiotensin SystemIrbesartanLipocalin-2Internal medicineDiabetes mellitusProto-Oncogene ProteinsmedicineHumansDiabetic NephropathiesHepatitis A Virus Cellular Receptor 1AgedMembrane Glycoproteinsurogenital systembusiness.industryGeneral MedicineMiddle Agedmedicine.diseaseLipocalinsEndocrinologyKidney TubulesAlbuminuriaReceptors VirusMicroalbuminuriaFemalemedicine.symptombusinessmedicine.drugAcute-Phase ProteinsScandinavian journal of clinical and laboratory investigation
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Pan-cancer analysis of whole genomes

2020

Publisher's version (útgefin grein)

Maletert promoter mutationsCancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2]DNA Mutational AnalysisNormal tissuesystematic analysisGermlineTranscriptome0302 clinical medicineAetiologyCàncerCellular SenescenceCancer0303 health sciencesdna-damageMassive parallel sequencingPan cancerREARRANGEMENTSHigh-Throughput Nucleotide SequencingGenomicsSciences bio-médicales et agricolesTelomereCOMPREHENSIVE3. Good healthTERT PROMOTER MUTATIONSsignatures030220 oncology & carcinogenesisScience & Technology - Other TopicsErfðarannsóknirHuman:Informàtica::Aplicacions de la informàtica::Bioinformàtica [Àrees temàtiques de la UPC]EvolutionRNA SplicingGenomicsArticleEvolution MolecularStructural variationRC025403 medical and health sciencesSDG 3 - Good Health and Well-beingGeneticgenomicsSYSTEMATIC ANALYSISGeneticsGenomics--Databases.HumansGenetic TestingMolecular BiologySIGNATURESWhole genome sequencing1000 MultidisciplinaryChromothripsisScience & TechnologyRC0254 Neoplasms. Tumors. Oncology (including Cancer)Information DisseminationResearchInstitutes_Networks_Beacons/mcrcPreventionBiology and Life SciencesMolecularOncogenesCloud Computingmedicine.diseaseGenòmicaCompute cloudsMutation570 Life sciences; biologyCOMPREHENSIVE CHARACTERIZATIONGenèticaWhole Genome Sequencing--methodsBackground informationDNA Mutational Analysis ; Evolution ; Genetic / genetics ; Genome ; Genomics ; Germ-Line Mutation / genetics ; High-Throughput Nucleotide Sequencing ; Human / genetics ; Humans ; ICGC/TCGA Pan-Cancer Analysis of Whole Genomes ConsortiumMedizinGenomeWhole-genomeGenome mappingNeoplasms2.1 Biological and endogenous factorsPromoter Regions GeneticCàncer -- Aspectes genèticsTelomeraseGeneticsWomen's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17]MultidisciplinaryChromothripsisGenomeManchester Cancer Research Centregenomics cancer profiling3rd-DAS10124 Institute of Molecular Life SciencesWomen's cancers Radboud Institute for Health Sciences [Radboudumc 17]Multidisciplinary SciencesParallel sequencingICGC/TCGA Pan-Cancer Analysis of Whole Genomes ConsortiumFemaleprofilingMedical GeneticsEngineering sciences. TechnologyBiotechnologyGeneral Science & TechnologyThe Cancer Genome Atlas610 Medicine & healthComputational biologyQH426 GeneticsBiologyConsortium of the International Cancer Genome ConsortiumPromoter RegionsGermline mutationPan-cancer analysisKrabbameinsrannsóknirmedicinecancerddc:610QH426Germ-Line MutationMedicinsk genetikKrabbamein030304 developmental biologyCell ProliferationLANDSCAPEGenome Humancomprehensive characterizationPan-cancer analysis of whole genomesPoint mutationHuman GenomeCancerReproducibility of ResultsSOMATIC MUTATIONSEVOLUTIONCancer sequencing Chromothripsis telomereDNA-DAMAGEMutagenesisPATTERNS3111 BiomedicineCHARACTERIZATION
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