Search results for "ANN"

showing 10 items of 14573 documents

Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.

2016

Autosomal dominant genetic diseases can occur de novo and in the form of somatic mosaicism, which can give rise to a less severe phenotype, and make diagnosis more difficult given the sensitivity limits of the methods used. We report the case of female child with a history of surgery for syndactyly of the hands and feet, who was admitted at 6 years of age to a pediatric intensive care unit following cardiac arrest. The electrocardiogram (ECG) showed a long QT interval that on occasions reached 500 ms. Despite the absence of facial dysmorphism and the presence of normal psychomotor development, a diagnosis of Timothy syndrome was made given the association of syndactyly and the ECG features.…

0301 basic medicineCalcium Channels L-TypeLong QT syndromeDNA Mutational AnalysisTimothy syndrome030204 cardiovascular system & hematologyBioinformaticsDNA sequencing03 medical and health sciencessymbols.namesakeElectrocardiography0302 clinical medicineGeneticsmedicineMissense mutationHumansSyndactylyAutistic DisorderChildCodonGenetics (clinical)AllelesGenetic Association StudiesSanger sequencingbiologyMosaicismKCNE2High-Throughput Nucleotide Sequencingmedicine.diseaseLong QT Syndrome030104 developmental biologyPhenotypeAmino Acid SubstitutionMutation (genetic algorithm)Mutationsymbolsbiology.proteinFemaleSyndactylyAmerican journal of medical genetics. Part A
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Down-Regulation of Cannabinoid Type 1 (CB1) Receptor and its Downstream Signaling Pathways in Metastatic Colorectal Cancer

2019

Changes in the regulation of endocannabinoid production, together with an altered expression of their receptors are hallmarks of cancer, including colorectal cancer (CRC). Although several studies have been conducted to understand the biological role of the CB1 receptor in cancer, little is known about its involvement in the metastatic process of CRC. The aim of this study was to investigate the possible link between CB1 receptor expression and the presence of metastasis in patients with CRC, investigating the main signaling pathways elicited downstream of CB1 receptor in colon cancer. Fifty-nine consecutive patients, with histologically proven colorectal cancer, were enrolled in the study,…

0301 basic medicineCancer ResearchCannabinoid receptorColorectal cancercolorectal cancerlcsh:RC254-282ArticleMetastasisMalignant transformation03 medical and health sciences0302 clinical medicineMedicinemetastasisendocannabinoid systemReceptorbusiness.industryCancerlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseasePrimary tumor030104 developmental biologyOncology030220 oncology & carcinogenesisCancer researchSignal transductionbusinesscannabinoid type 1 (CB1) receptorCancers
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Prevention of carcinogenesis and metastasis by Artemisinin-type drugs.

2018

Artemisia annua (sweet wormwood, qinhao) is an ancient Chinese herbal remedy for pyrexia. Nowadays, artemisinin (qinghaosu) and its derivatives belong to the standard therapies against malaria worldwide, and its discovery has led to the Nobel Prize in Physiology and Medicine to Youyou Tu in 2015. While most attention has been paid to the treatment of malaria, there is increasing evidence that Artemisinin-type drugs bear a considerable potential to treat and prevent cancer. Rather than reporting on therapy of cancer, this review gives a comprehensive and timely overview on the chemopreventive effects of artemisinin and its derivatives against carcinogenesis and metastasis formation, followin…

0301 basic medicineCancer ResearchCarcinogenesisArtemisia annuaCancer metastasisArtemisia annuaBioinformaticsmedicine.disease_causeMetastasis03 medical and health sciencesAntimalarials0302 clinical medicineNeoplasmsparasitic diseasesmedicineHumansArtemisininNeoplasm MetastasisToxicity profileClinical Trials as TopicbiologyMolecular Structurebusiness.industryCancermedicine.diseasebiology.organism_classificationArtemisinins030104 developmental biologyOncology030220 oncology & carcinogenesisCarcinogenesisbusinessMalariamedicine.drugPhytotherapyCancer letters
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From ancient herb to modern drug: Artemisia annua and artemisinin for cancer therapy.

2017

Artemisia annua L. is used throughout Asia and Africa as tea and press juice to treat malaria and related symptomes (fever, chills). Its active ingredient, artemisinin (ARS), has been developed as antimalarial drug and is used worldwide. Interestingly, the bioactivity is not restricted to malaria treatment. We and others found that ARS-type drugs also reveal anticancer in vitro and in vivo. In this review, we give a systematic overview of the literature published over the past two decades until the end of 2016. Like other natural products, ARS acts in a multi-specific manner against tumors. The cellular response of ARS and its derivatives (dihydroartemisinin, artesunate, artemether, arteeth…

0301 basic medicineCancer ResearchNecroptosismedicine.medical_treatmentArtemisia annuaDihydroartemisininPharmacologyArtemisia annua03 medical and health scienceschemistry.chemical_compound0302 clinical medicineNeoplasmsmedicineHumansArtemetherArtemisininPI3K/AKT/mTOR pathwaybiologybiology.organism_classificationArtemisininsNeoplasm ProteinsGene Expression Regulation NeoplasticDrug repositioningOxidative Stress030104 developmental biologychemistryArtesunate030220 oncology & carcinogenesismedicine.drugSeminars in cancer biology
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Using the r package spatstat to assess inhibitory effects of microregional hypoxia on the infiltration of cancers of the head and neck region by cyto…

2021

Simple Summary Progress in the field of in situ proteomics allows for the simultaneous detection of multiple biomarkers within one cancer tissue specimen. As a result, biological hypotheses previously only assessable ex vivo can now be studied in human cancer tissue. However, methods for objective analysis have so far been lacking behind. In this study, we established a free, objective, and entirely open-source-based method for the analysis of multiplexed immunofluorescence specimens. This will gain further importance with the availability of more advanced multiplexing methods in the future. Abstract (1) Background: The immune system has physiological antitumor activity, which is partially …

0301 basic medicineCancer ResearchOpen-sourcespatial analysisCellBiologyArticle03 medical and health sciences0302 clinical medicineImmune systemmedicineCytotoxic T cellCancer immune evasionHead and neck cancerHypoxiacancer immune evasionRC254-282open-sourceTumor hypoxiaMultichannel im-munofluorescencehypoxiaHead and neck cancerRSpatial analysisNeoplasms. Tumors. Oncology. Including cancer and carcinogensHypoxia (medical)medicine.diseaseCTL*030104 developmental biologymedicine.anatomical_structureOncologymultichannel immunofluorescence030220 oncology & carcinogenesisCancer researchhead and neck cancermedicine.symptomInfiltration (medical)
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The secreted protein acidic and rich in cysteine is a critical mediator of cell death program induced by WIN/TRAIL combined treatment in osteosarcoma…

2015

Abstract Secreted protein acidic and rich in cysteine (SPARC) is a multi-functional protein which modulates cell-cell and cell-matrix interactions. In cancer cells, SPARC behaves as a tumor promoter in a number of tumors, but it can also act as a tumor suppressor factor. Our previous results showed that the synthetic cannabinoid WIN55,212-2 (WIN), a potent cannabinoid receptor agonist, is able to sensitize osteosarcoma MG63 cells to TNF-related apoptosis-inducing ligand (TRAIL)-induced apoptosis which is accompanied with endoplasmic reticulum (ER)-stress induction and the increase in autophagic markers. In the present investigation, we studied the role of SPARC in WIN/TRAIL-induced apoptosi…

0301 basic medicineCancer ResearchProgrammed cell deathCell SurvivalMorpholinesCellSPARC cannabinoids osteosarcoma apoptosis caspase-8 activationApoptosisBone NeoplasmsBiologyNaphthalenesTNF-Related Apoptosis-Inducing Ligand03 medical and health sciences0302 clinical medicineProtein DomainsSettore BIO/10 - BiochimicaCell Line TumormedicineCytotoxic T cellHumansOsteonectinGene SilencingCaspase 8OsteosarcomaOncogeneCell DeathEndoplasmic reticulumCell MembraneCell cycleEndoplasmic Reticulum StressCell biologyBenzoxazines030104 developmental biologymedicine.anatomical_structureOncologyApoptosis030220 oncology & carcinogenesisCancer cellRNA InterferenceInternational journal of oncology
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Red wine extract disrupts Th17 lymphocyte differentiation in a colorectal cancer context

2020

International audience; Scope: Scope: It is well established that immune response and inflammation promote tumoral progression. Immune cells communicate through direct contact or through cytokine secretion, and it is the pro-inflammatory status that will tip the balance toward tumor progression or anti-tumor immunity. It is demonstrated here that a red wine extract (RWE) can decrease inflammation through its action on the inflammasome complex. This study determines whether an RWE could impact other key actors of inflammation, including T helper 17 (Th17) immune cells in particular. Methods and results: Methods and results: Using an RWE containing 4.16 g of polyphenols/liter of wine, it is s…

0301 basic medicineCancers polyphenolsred wine extractPlateforme de Transfert en Biologie du Cancer (PTBC) ChalminWineCancers Lipids[SHS]Humanities and Social Scienceslymphocyte T Red wine extractchemopreventionLymphocytesEmericMice Inbred BALB CDominiqueInterleukin-17Lymphocyte differentiationVin rougeCell DifferentiationFlavieSanté humaineLipidscolon cancerFemaleInterleukin 17medicine.symptomCancers LimagneColorectal NeoplasmsCancersCancers DelmasBiotechnologyOEnologieInflammationBiology03 medical and health sciencesLymphocytes Tumor-InfiltratingImmune systemCell Line TumorCancers CourtautmedicineAnimalsHumanslymphocytes Th17Cell ProliferationNutrition030109 nutrition & dieteticsFannyPlant ExtractsInterleukinsPolyphenolsHCT116 CellsAntineoplastic Agents PhytogenicXenograft Model Antitumor AssaysMice Inbred C57BL030104 developmental biologyTumor progressionSTAT proteinCancer researchTh17 CellsCytokine secretionVirginieInflammasome complex[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyFood Science
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Preparing for Winter: The Transcriptomic Response Associated with Different Day Lengths in Drosophila montana

2016

The work has been supported by a Natural Environment Research Council studentship to D.J.P. and an Academy of Finland grant to M.K. (project 268214). At northern latitudes, the most robust cue for assessing the onset of winter is the shortening of day lengths. Many species use day length as a cue to increase their cold tolerance and/or enter into diapause, but little is known about changes in gene expression that occur under different day lengths. We investigate the gene expression changes associated with differences in light/dark cycles in Drosophila montana, a northerly distributed species with a strong adult photoperiodic reproductive diapause. To examine gene expression changes induced …

0301 basic medicineCandidate geneQH301 Biologymedia_common.quotation_subjectZoologyQH426 GeneticsInvestigationsDiapauseBiologyQH426-470photoperiodQH30103 medical and health sciencestranscriptomicsBotanyGeneticsAnimalsCluster Analysisgeeniekspressioskin and connective tissue diseasesQH426Molecular BiologyDrosophilaGenetics (clinical)Overwinteringmedia_commonRegulation of gene expressionphotoperiodismGene Expression Profilingta1184Chromosome MappingComputational BiologyMolecular Sequence Annotationbiology.organism_classificationoverwinteringGene expression profilingdiapauseGene Ontology030104 developmental biologyGene Expression Regulationgene expressionta1181DrosophilaFemaleSeasonsGene expressionsense organsReproductionTranscriptome
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Singular Location and Signaling Profile of Adenosine A2A-Cannabinoid CB1 Receptor Heteromers in the Dorsal Striatum

2018

The dorsal striatum is a key node for many neurobiological processes such as motor activity, cognitive functions, and affective processes. The proper functioning of striatal neurons relies critically on metabotropic receptors. Specifically, the main adenosine and endocannabinoid receptors present in the striatum, ie, adenosine A(2A) receptor (A(2A)R) and cannabinoid CB1 receptor (CB1R), are of pivotal importance in the control of neuronal excitability. Facilitatory and inhibitory functional interactions between striatal A(2A)R and CB1R have been reported, and evidence supports that this cross-talk may rely, at least in part, on the formation of A(2A)R-CB1R heteromeric complexes. However, th…

0301 basic medicineCannabinoid receptorAdenosineReceptor Adenosine A2Amedicine.medical_treatmentAdenosinaAdenosine A2A receptormediated inhibitionStriatumBiologyhuntingtons-disease micecannabinoid CB1Mice03 medical and health sciencesglutamatergic neurotransmission0302 clinical medicineReceptor Cannabinoid CB1NeurobiologyNeural PathwaysBasal gangliamedicineAnimalsHumansendocannabinoid systemGenetically modified animalProtein Structure QuaternaryA(2A) receptorsPharmacologyEndocannabinoid systemCorpus Striatumprotein-coupled receptorsProtein SubunitsPsychiatry and Mental healthtransgenic mouse modelHuntington Disease030104 developmental biologyMetabotropic receptornervous systembasal gangliaCannabinoidallosteric interactionsNeuroscience030217 neurology & neurosurgeryNeurobiologiaSignal Transduction
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2021

Brain homeostasis is the dynamic equilibrium whereby physiological parameters are kept actively within a specific range. The homeostatic range is not fixed and may change throughout the individual's lifespan, or may be transiently modified in the presence of severe perturbations. The endocannabinoid system has emerged as a safeguard of homeostasis, e.g., it modulates neurotransmission and protects neurons from prolonged or excessively strong activation. We used genetically engineered mouse lines that lack the cannabinoid type-1 receptor (CB1) either in dorsal telencephalic glutamatergic or in forebrain GABAergic neurons to create new allostatic states, resulting from alterations in the exci…

0301 basic medicineCannabinoid receptorCell BiologyNeurotransmissionHippocampal formationBiologyEndocannabinoid system03 medical and health sciencesCellular and Molecular NeuroscienceGlutamatergic030104 developmental biology0302 clinical medicineSynaptic plasticityForebrainGABAergicNeuroscience030217 neurology & neurosurgeryFrontiers in Synaptic Neuroscience
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