Search results for "Cancer Research"

showing 4 items of 5684 documents

PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C.

2011

We investigated the therapeutic potential of the premature termination codon (PTC) readthrough-inducing drug PTC124 in treating the retinal phenotype of Usher syndrome, caused by a nonsense mutation in the USH1C gene. Applications in cell culture, organotypic retina cultures, and mice in vivo revealed significant readthrough and the recovery of protein function. In comparison with other readthrough drugs, namely the clinically approved readthrough-inducing aminoglycoside gentamicin, PTC124 exhibits significant better retinal biocompatibility. Its high readthrough efficiency in combination with excellent biocompatibility makes PTC124 a promising therapeutic agent for PTCs in USH1C, as well a…

virusesUsher syndromeGenetic enhancementNonsense mutationGenetic VectorsCell Cycle ProteinsRetina03 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicineIn vivootorhinolaryngologic diseasesGeneticsmedicineAnimalsHumansMolecular BiologyCells Cultured030304 developmental biologyAdaptor Proteins Signal TransducingGenetics0303 health sciencesOxadiazolesbusiness.industryfungiAminoglycosideTranslational readthroughmedicine.diseasePhenotype3. Good healthAtalurenMice Inbred C57BLCytoskeletal ProteinsLuminescent ProteinsElectroporationchemistryMicroscopy FluorescenceCodon NonsenseCancer researchMolecular MedicineGentamicinsbusinessUsher Syndromes030217 neurology & neurosurgeryHuman gene therapy
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Clinical utility gene card for: von Hippel-Lindau (VHL).

2013

von Hippel-Lindau Diseasemedicine.diagnostic_testGenotypeVon Hippel-Lindau Tumor Suppressor ProteinBiologyVon hippel lindaumedicine.diseasePhenotypeCyclin D1PhenotypeVon Hippel-Lindau Tumor Suppressor ProteinGenotypeClinical Utility Gene CardGeneticsmedicineCancer researchHumansCyclin D1Genetic TestingVon Hippel–Lindau diseaseGeneGenetics (clinical)Genetic testingEuropean journal of human genetics : EJHG
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Get up, stand up: Alongside adolescents and young adults with cancer for their right to be forgotten

2022

Adolescent and young adult cancer survivors may experience various forms of social difficulties years or even decades after completing their cancer treatments. This article will hopefully help the Italian national project dedicated to adolescents and young adults with cancer promoting political and legal solutions to stop discrimination and supporting the right to be forgotten.

young adultsCancer ResearchAdolescentAYAsurvivorsGeneral MedicineAdolescentsCancer SurvivorsOncologyItalyNeoplasmsSettore M-PSI/08 - Psicologia ClinicasurvivorHumansyoung adultright to be forgottenAYA; Adolescents; Italy; right to be forgotten; survivors; young adults
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Activation of α-secretase as an approach for treatment of Alzheimer’s disease

2006

α secretasebiologyChemistryAmyloid precursor proteinbiology.proteinCancer researchDisease
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