Search results for "Small"

showing 10 items of 2441 documents

Neuronal Cytoskeleton in Intellectual Disability: From Systems Biology and Modeling to Therapeutic Opportunities

2021

Intellectual disability (ID) is a pathological condition characterized by limited intellectual functioning and adaptive behaviors. It affects 1–3% of the worldwide population, and no pharmacological therapies are currently available. More than 1000 genes have been found mutated in ID patients pointing out that, despite the common phenotype, the genetic bases are highly heterogeneous and apparently unrelated. Bibliomic analysis reveals that ID genes converge onto a few biological modules, including cytoskeleton dynamics, whose regulation depends on Rho GTPases transduction. Genetic variants exert their effects at different levels in a hierarchical arrangement, starting from the molecular lev…

0301 basic medicineactin cytoskeletonReview0302 clinical medicineBorderline intellectual functioningIntellectual disabilityDisabilità Intellettiva GTPasi CitoscheletroBiology (General)CytoskeletonSpectroscopyNeuronseducation.field_of_studysystems biologyCognitionGeneral MedicinePhenotypeComputer Science ApplicationsChemistryPhenotypeintellectual disabilitySignal TransductionBoolean modelingQH301-705.5NeurogenesisIn silicoSystems biologyPopulationBiologyCatalysismicrotubulesInorganic Chemistry03 medical and health sciencesmedicineAnimalsHumansPhysical and Theoretical ChemistryeducationQD1-999Molecular BiologyGTPase signalingsmall Rho GTPasesOrganic Chemistrypharmacological modulationprotein:protein interaction networkActin cytoskeletonmedicine.disease030104 developmental biologySynapsesneuronal networksNeuroscience030217 neurology & neurosurgery
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Selective α-synuclein knockdown in monoamine neurons by intranasal oligonucleotide delivery: potential therapy for parkinson’s disease

2018

Progressive neuronal death in brainstem nuclei and widespread accumulation of α-synuclein are neuropathological hallmarks of Parkinson’s disease (PD). Reduction of α-synuclein levels is therefore a potential therapy for PD. However, because α-synuclein is essential for neuronal development and function, α-synuclein elimination would dramatically impact brain function. We previously developed conjugated small interfering RNA (siRNA) sequences that selectively target serotonin (5-HT) or norepinephrine (NE) neurons after intranasal administration. Here, we used this strategy to conjugate inhibitory oligonucleotides, siRNA and antisense oligonucleotide (ASO), with the triple monoamine reuptake …

0301 basic medicineanimal diseasesDopamineOligonucleotidesGene ExpressionPharmacologySynaptic TransmissionPrefrontal cortexMiceDA neurotransmission0302 clinical medicineDrug DiscoveryMonoaminergicNeural PathwaysRNA Small InterferingCells Cultured5-HT neurotransmissionChemistryGene Transfer TechniquesParkinson DiseaseVentral tegmental areaSubstantia Nigramedicine.anatomical_structureCaudate putamenGene Knockdown Techniquesalpha-SynucleinMolecular MedicineRNA InterferenceOriginal ArticleMonoamine reuptake inhibitormedicine.drugSignal TransductionSerotoninSubstantia nigraASO03 medical and health sciencesProsencephalonα-synucleinDopamineIntranasal administrationGeneticsmedicineAnimalsHumansMolecular BiologyAdministration IntranasalPharmacologyPars compactaDopaminergic NeuronsGenetic TherapyCorpus Striatumnervous system diseases030104 developmental biologyMonoamine neurotransmitterGene Expression Regulationnervous systemsiRNAParkinson’s diseaseLocus coeruleus030217 neurology & neurosurgery
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Holistic Optimization of Bioinformatic Analysis Pipeline for Detection and Quantification of 2′-O-Methylations in RNA by RiboMethSeq

2020

International audience; A major trend in the epitranscriptomics field over the last 5 years has been the high-throughput analysis of RNA modifications by a combination of specific chemical treatment(s), followed by library preparation and deep sequencing. Multiple protocols have been described for several important RNA modifications, such as 5-methylcytosine (m5C), pseudouridine (ψ), 1-methyladenosine (m1A), and 2'-O-methylation (Nm). One commonly used method is the alkaline cleavage-based RiboMethSeq protocol, where positions of reads' 5'-ends are used to distinguish nucleotides protected by ribose methylation. This method was successfully applied to detect and quantify Nm residues in vari…

0301 basic medicinebioinformatic pipelinelcsh:QH426-470Computer scienceComputational biologyDeep sequencingPseudouridine03 medical and health scienceschemistry.chemical_compound0302 clinical medicine[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]ribose methylationEpitranscriptomicsGeneticsGenetics (clinical)receiver operating characteristic2'-O-methylation2′-O-methylationhigh-throughput sequencingRNA[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologyBrief Research Reportlcsh:Genetics030104 developmental biologychemistry030220 oncology & carcinogenesisTransfer RNARNAMolecular MedicineSmall nuclear RNAReference genomeFrontiers in Genetics
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Promoter methylation status of ASC/TMS1/PYCARD is associated with decreased overall survival and TNM status in patients with early stage non-small ce…

2019

Background: Lung cancer is the leading cause of cancer-related death worldwide, with 5-year overall survival less than 15%. Therefore, it is essential to find biomarkers for early detection and prognosis. Aberrant DNA methylation is a common feature of human cancers and its utility is already recognized in cancer management. The aim of this study was to explore the diagnostic and prognostic value of the promoter methylation status of the ASC/TMS1/PYCARD and MyD88 genes, key adaptor molecules in the activation of the innate immune response and apoptosis pathways. Methods: A total of 50 non-small cell lung cancer (NSCLC) patients were enrolled in the study. Methylation of bisulphite converted…

0301 basic medicinebusiness.industrynon-small cell lung cancer (NSCLC)Basic Medical SciencesPromoterPYCARDMethylationmedicine.disease3. Good health03 medical and health sciences030104 developmental biology0302 clinical medicineOncologyCpG site030220 oncology & carcinogenesismedicineCancer researchASC/TMS1/PYCARD ; MyD88 ; methylation status ; association ; overall survival ; TNM ; non-small cell lung cancer (NSCLC)Stage (cooking)Lung cancerbusinessGene
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Structural and mechanistic insights into the interaction of the circadian transcription factor BMAL1 with the KIX domain of the CREB-binding protein

2019

JBC papers in press xx, 16604-16619 (2019). doi:10.1074/jbc.RA119.009845

0301 basic medicineendocrine systemCircadian clockTranscription factor complex610BiochemistryProtein Structure SecondaryProtein–protein interaction03 medical and health sciencesTransactivationMiceProto-Oncogene Proteins c-mybProtein DomainsX-Ray DiffractionCircadian ClocksScattering Small AngleAnimalsddc:610Amino Acid SequenceCREB-binding proteinMolecular BiologyTernary complexTranscription factorBinding Sites030102 biochemistry & molecular biologybiologyChemistryARNTL Transcription FactorsCell BiologyHistone-Lysine N-MethyltransferaseSurface Plasmon ResonanceCREB-Binding ProteinRecombinant ProteinsCell biologyProtein Structure Tertiary030104 developmental biologyStructural biologyProtein Structure and Foldingbiology.proteinMutagenesis Site-DirectedMyeloid-Lymphoid Leukemia ProteinProtein Binding
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miRNAs Regulation and Its Role as Biomarkers in Endometriosis.

2016

MicroRNAs (miRNAs) are small non-coding RNAs (18-22 nt) that function as modulators of gene expression. Since their discovery in 1993 in C. elegans, our knowledge about their biogenesis, function, and mechanism of action has increased enormously, especially in recent years, with the development of deep-sequencing technologies. New biogenesis pathways and sources of miRNAs are changing our concept about these molecules. The study of the miRNA contribution to pathological states is a field of great interest in research. Different groups have reported the implication of miRNAs in pathologies such as cancer, diabetes, cardiovascular, and gynecological diseases. It is also well-known that miRNAs…

0301 basic medicineendometriosisnon-coding RNAEndometriosisReviewBioinformaticsCatalysisInorganic Chemistrylcsh:Chemistry03 medical and health sciencesEndometriumRNA TransfermicroRNARNA Small CytoplasmicMedicineHumansRNA MessengerPhysical and Theoretical ChemistryRNA Small InterferingMolecular Biologylcsh:QH301-705.5SpectroscopyRegulation of gene expressionmicroRNAbusiness.industryOrganic ChemistryCancerGeneral Medicinemedicine.diseaseNon-coding RNAComputer Science ApplicationsMicroRNAs030104 developmental biologylcsh:Biology (General)lcsh:QD1-999Gene Expression RegulationGinecologiaBiomarker (medicine)biomarkerFemalebusinessBiogenesisFunction (biology)Biomarkers
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Biodegradable nano-polymers as delivery vehicles for therapeutic small non-coding ribonucleic acids.

2016

Nowadays, small non-coding Ribo Nucleic Acids (sncRNAs) such as siRNA, miRNA and shRNA are extremely serving to gene regulation. They are involved in many biological processes and in an increasing number of studies regarding a variety of application of sncRNAs toward human health and relieving diseases ranging from metabolic disorders to those involving various organ systems as well as different types of cancer. One of the most severe limitations for applying RNA interference technology is the absence of safe and effective carriers for in vivo delivery, including localizing the molecules to a specific site of interest and sustaining the presentation of the payloads for a controlled period o…

0301 basic medicinefood.ingredientPharmaceutical Science02 engineering and technologyGelatinChitosanSmall hairpin RNA03 medical and health scienceschemistry.chemical_compoundfoodBiopolymersRNA interferenceIn vivoHyaluronic acidAnimalsHumansPolyglutamic acidGene Transfer Techniques021001 nanoscience & nanotechnology030104 developmental biologychemistryBiochemistryNucleic acidNanoparticlesRNA Small Untranslated0210 nano-technologyJournal of controlled release : official journal of the Controlled Release Society
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The role of extracellular calcium in bone metastasis

2016

AbstractThis review summarizes the role of extracellular calcium, as found present in the bone tissue, in the process of bone metastasis.

0301 basic medicinelcsh:Diseases of the musculoskeletal systemIGF insulin-like growth factorPGE-2 prostaglandin E-2Bone tissueFibroblast growth factorM-CSF macrophage colony-stimulating factorPDGF platelet-derived growth factorBone remodelingSK3 small conductance calcium-activated potassium channel 30302 clinical medicineERK extracellular signal-regulated kinaseTGFβ transforming growth factor betaBMP's bone morphogenetic proteinsbiologyAKT AKT8 virus oncogene cellular homologBone metastasislcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogenshumanitiescAMP cyclic adenosine monophosphatemedicine.anatomical_structureOncologyRANKL030220 oncology & carcinogenesisIon channelsCaSR calcium-sensing receptorPTHrP parathyroid hormone-related proteinPlatelet-derived growth factor receptorResearch PaperTRP transient receptor potentialmedicine.medical_specialtychemistry.chemical_elementCalciumRANKL receptor activator of NF-κB ligandlcsh:RC254-28203 medical and health sciencesPLC phospholipase CInternal medicinemedicineExtracellularCaSRET-1 endothelin-1PTEN phosphatase and tensin homolog deleted on chromosome 10business.industryBone metastasismedicine.diseaseFGF fibroblast growth factor030104 developmental biologyEndocrinologyPSA prostate specific antigenchemistryCOPD chronic obstructive pulmonary diseasebiology.proteinCancer researchJNK jun N-terminal kinasePKA protein kinase ARANK receptor activator of NF-κBCalciumlcsh:RC925-935businessMAPK mitogen-activated protein kinaseJournal of Bone Oncology
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Update of Immunosenescence in Cerebral Small Vessel Disease

2020

Aging of the central nervous system (CNS) is closely associated with chronic sterile low-grade inflammation in older organisms and related immune response. As an amplifier for neuro-inflammaging, immunosenescence remodels and deteriorates immune systems gradually with the passage of time, and finally contributes to severe outcomes like stroke, dementia and neurodegeneration in elderly adults. Cerebral small vessel disease (CSVD), one of the major causes of vascular dementia, has an intensive connection with the inflammatory response and immunosenescence plays a crucial role in the pathology of this disorder. In this review, we discuss the impact of immunosenescence on the development of CSV…

0301 basic medicinelcsh:Immunologic diseases. AllergyImmunologyInflammationDiseaseReview03 medical and health sciences0302 clinical medicineImmune systemmedicineDementiaAnimalsHumansImmunology and AllergyVascular dementiaStrokeimmunosenescenceMechanism (biology)business.industrycerebral small vessel diseasepathogenesisagingImmunosenescencemedicine.disease030104 developmental biologyCerebral Small Vessel DiseasesImmunologyinflammagingmedicine.symptombusinesslcsh:RC581-607030217 neurology & neurosurgeryFrontiers in Immunology
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The Unfolded Protein Response Plays a Predominant Homeostatic Role in Response to Mitochondrial Stress in Pancreatic Stellate Cells.

2016

Activated pancreatic stellate cells (PaSC) are key participants in the stroma of pancreatic cancer, secreting extracellular matrix proteins and inflammatory mediators. Tumors are poorly vascularized, creating metabolic stress conditions in cancer and stromal cells that necessitate adaptive homeostatic cellular programs. Activation of autophagy and the endoplasmic reticulum unfolded protein response (UPR) have been described in hepatic stellate cells, but the role of these processes in PaSC responses to metabolic stress is unknown. We reported that the PI3K/mTOR pathway, which AMPK can regulate through multiple inputs, modulates PaSC activation and fibrogenic potential. Here, using primary a…

0301 basic medicinelcsh:MedicineApoptosisMitochondrionAMP-Activated Protein KinasesEndoplasmic ReticulumBiochemistrychemistry.chemical_compoundMiceeIF-2 KinasePhosphatidylinositol 3-Kinases0302 clinical medicineFluorescence MicroscopyCell SignalingTumor Microenvironment2.1 Biological and endogenous factorsSmall interfering RNAsAetiologylcsh:ScienceEnergy-Producing OrganellesCancerMice KnockoutMicroscopyMultidisciplinarySecretory PathwayCell DeathTOR Serine-Threonine KinasesLight MicroscopySignaling CascadesCell biologyMitochondriaNeoplasm ProteinsUp-RegulationNucleic acidsCell Processes030220 oncology & carcinogenesisCellular Structures and OrganellesResearch ArticleSignal TransductionProgrammed cell deathCell PhysiologyGeneral Science & TechnologyAutophagic Cell DeathKnockoutBiologyBioenergeticsResearch and Analysis MethodsStress Signaling Cascade03 medical and health sciencesGeneticsAutophagyAnimalsNon-coding RNAPancreasPI3K/AKT/mTOR pathwaylcsh:RAutophagyAMPKBiology and Life SciencesCell BiologyCell MetabolismGene regulationPancreatic NeoplasmsEnzyme Activation030104 developmental biologychemistryHepatic stellate cellUnfolded protein responseUnfolded Protein ResponseRNAlcsh:QGene expressionInterleukin-4Digestive DiseasesRottlerinTranscription Factor CHOP
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