Search results for "Mutation."

showing 10 items of 2808 documents

Coordinated remodeling of cellular metabolism during iron deficiency through targeted mRNA degradation.

2004

AbstractIron (Fe) is an essential micronutrient for virtually all organisms and serves as a cofactor for a wide variety of vital cellular processes. Although Fe deficiency is the primary nutritional disorder in the world, cellular responses to Fe deprivation are poorly understood. We have discovered a posttranscriptional regulatory process controlled by Fe deficiency, which coordinately drives widespread metabolic reprogramming. We demonstrate that, in response to Fe deficiency, the Saccharomyces cerevisiae Cth2 protein specifically downregulates mRNAs encoding proteins that participate in many Fe-dependent processes. mRNA turnover requires the binding of Cth2, an RNA binding protein conser…

Untranslated regionSaccharomyces cerevisiae ProteinsTranscription GeneticIronSaccharomyces cerevisiaeMolecular Sequence DataDown-RegulationRNA-binding proteinSaccharomyces cerevisiaeBiologyGeneral Biochemistry Genetics and Molecular BiologyCofactorTristetraprolinGene Expression Regulation FungalMRNA degradationmedicineRNA MessengerRNA Processing Post-TranscriptionalMessenger RNABase SequenceBiochemistry Genetics and Molecular Biology(all)Mechanism (biology)Iron deficiencybiology.organism_classificationmedicine.diseaseDNA-Binding ProteinsBiochemistryMutationbiology.proteinPlasmidsCell
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Giustizia ambientale e recupero delle aree verdi: il caso di Palermo

2021

L’urban shrinkage è diventata una questione centrale tanto nel dibattito scientifico quanto nell’agenda politica di diverse città europee. Secondo i dati EUROSTAT (2019), circa il 40% delle città europee con più di 200.000 abitanti stanno perdendo popolazione; una contrazione che si esplicita maggiormente, sotto il profilo spaziale, in una progressiva sottoutilizzazione del patrimonio edificato, così come nel contestuale incremento di aree e terreni in stato di abbandono. In questo quadro controverso di mutazione strutturale della città, così come l’abbiamo conosciuta, le politiche urbane alla prova in Europa tentano di declinare la decrescita quale occasione strategica di investimento sull…

Urban shrinkage became a central issue in both the scientific debate and the political agenda of several European cities. According to EUROSTAT data (2019) about 40% of European cities with more than 200000 inhabitants are losing population. A shrinkage that is more explicit in a progressive underutilization of the built heritage as well as in the concomitant increase of abandoned areas. In this controversial framework of structural mutation of the city urban policies in Europe try to decline the degrowth as a strategic opportunity to invest in green areas in order to increase urban quality and to act simultaneously on the development of local economies. With respect to the above framework this contribution focuses on the evaluation of the effects that the project of new public green spaces have generated on some sample areas on the outskirts of the city of Palermo. An urban context where according to the latest Svimez Report (2019) the phenomenon of urban shrinkage represents a constantly growing trend and on which the new Master Plan operates through a revival of interventions on environmental capital and urban green areas of the city.Settore ICAR/21 - Urbanistica
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Cellular UDP-Glucose Deficiency Caused by a Single Point Mutation in the UDP-Glucose Pyrophosphorylase Gene

1997

We previously isolated a mutant cell that is the only mammalian cell reported to have a persistently low level of UDP-glucose. In this work we obtained a spontaneous revertant whose UDP-glucose level lies between those found in the wild type and the mutant cell. The activity of UDP-glucose pyrophosphorylase (UDPG:PP), the enzyme that catalyzes the formation of UDP-glucose, was in the mutant 4% and in the revertant 56% of the activity found in the wild type cell. Sequence analysis of UDPG: PP cDNAs from the mutant cell showed one missense mutation, which changes amino acid residue 115 from glycine to aspartic acid. The substituted glycine is located within the largest stretch of strictly con…

Uridine Diphosphate GlucoseDNA ComplementaryMagnetic Resonance SpectroscopyUTP-Glucose-1-Phosphate UridylyltransferaseMolecular Sequence DataMutantDeoxyglucoseBiologymedicine.disease_causeBiochemistryProtein Structure SecondaryCell LineCricetulusCricetinaeAspartic acidmedicineAnimalsPoint MutationMissense mutationAmino Acid SequenceMolecular Biologychemistry.chemical_classificationMutationSequence Homology Amino AcidPoint mutationWild typeCell BiologyMolecular biologyEnzymeBiochemistrychemistryGlycineJournal of Biological Chemistry
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UDP-glucose deficiency in a mutant cell line protects against glucosyltransferase toxins from Clostridium difficile and Clostridium sordellii.

1996

Abstract We have previously isolated a fibroblast mutant cell with high resistance to the two Rho-modifying glucosyltransferase toxins A and B of Clostridium difficile. We demonstrate here a low level of UDP-glucose in the mutant, which explains its toxin resistance since: (i) to obtain a detectable toxin B-mediated Rho modification in lysates of mutant cells, addition of UDP-glucose was required, and it promoted the Rho modification dose-dependently; (ii) high pressure liquid chromatography analysis of nucleotide extracts of cells indicated that the level of UDP-glucose in the mutant (0.8 nmol/106 cells) was lower than in the wild type (3.7 nmol/106 cells); and (iii) sensitivity to toxin B…

Uridine Diphosphate GlucoseMicroinjectionsMutantBacterial ToxinsClostridium difficile toxin AClostridium sordelliiClostridium difficile toxin Bmedicine.disease_causeBiochemistryMicrobiologyCell LineCricetulusBacterial ProteinsGTP-Binding ProteinsCricetinaemedicineAnimalsMolecular BiologyClostridiumbiologyToxinClostridioides difficileWild typeCell BiologyClostridium difficilebiology.organism_classificationGlucosyltransferasesMutationbiology.proteinGlucosyltransferaseThe Journal of biological chemistry
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Study of USH1 Splicing Variants through Minigenes and Transcript Analysis from Nasal Epithelial Cells

2012

Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital profound deafness, vestibular areflexia and prepubertal retinitis pigmentosa. The first purpose of this study was to determine the pathologic nature of eighteen USH1 putative splicing variants found in our series and their effect in the splicing process by minigene assays. These variants were selected according to bioinformatic analysis. The second aim was to analyze the USH1 transcripts, obtained from nasal epithelial cells samples of our patients, in order to corroborate the observed effect of mutations by minigenes in patient’s tissues. The last objective was to evaluate the nasal ciliary beat fre…

Usher syndromelcsh:Medicinemedicine.disease_causeGene SplicingMolecular cell biologyAutosomal Recessivelcsh:ScienceGeneticsMutationMultidisciplinaryCadherinsMyosin VIIaRNA splicingSensory PerceptionUsher SyndromesResearch ArticleRNA SplicingCadherin Related ProteinsBiologyMyosinsNoseGenetic MutationRetinitis pigmentosamedicineGeneticsotorhinolaryngologic diseasesHumansCiliaBiologyMessenger RNAlcsh:RIntronMutation TypesComputational BiologyGenetic VariationEpithelial CellsHuman Geneticsmedicine.diseaseMolecular biologyRNA processingMutagenesisCase-Control StudiesMutationGenetics of Diseaselcsh:QGene expressionSensory DeprivationPCDH15MinigeneCloningNeuroscience
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VDR MUTATION IN TWO SISTERS: PHENOTYPE VARIABILITY AND CLINICAL OUTCOME

2017

Objectives: Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disease secondary to the mutation of vitamin D receptor (VDR) gene. These children show an early onset of rickets and in some of them alopecia is associated. Methods: We describe clinical features and laboratory findings in two sisters affected by HVDRR, as well as their response to treatment. Results: The first born is now 4 years old and had a severe and resistant hypocalcaemia, with low response to high doses of calcium per os, the requirement of intravenous infusion of calcium for a prolonged period, hypocalcaemic seizures resolved with high doses of intravenous calcium and high doses of vitamin D. Clin…

VDR MUTATION PHENOTYPE VARIABILITY CLINICAL OUTCOME
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Spatial and temporal distribution of SARS-CoV-2 diversity circulating in wastewater

2022

Wastewater-based epidemiology (WBE) has proven to be an effective tool for epidemiological surveillance of SARS-CoV-2 during the current COVID-19 pandemic. Furthermore, combining WBE together with high-throughput sequencing techniques can be useful for the analysis of SARS-CoV-2 viral diversity present in a given sample. The present study focuses on the genomic analysis of SARS-CoV-2 in 76 sewage samples collected during the three epidemiological waves that occurred in Spain from 14 wastewater treatment plants distributed throughout the country. The results obtained demonstrate that the metagenomic analysis of SARS-CoV-2 in wastewater allows the detection of mutations that define the B.1.1.…

Variants of concernEnvironmental EngineeringSARS-CoV-2Ecological ModelingfungiVariants of interestCOVID-19MicrobiologiaWastewaterGenome sequencingvariants of concernPollutionArticlespike mutationsEcologiagenome sequencingAigües residuals Microbiologiavariants of interestHumansSpike mutationsPandemicswastewaterWaste Management and DisposalWater Science and TechnologyCivil and Structural EngineeringWater Research
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Endothelin-1-Mediated Drug Resistance in EGFR-Mutant Non-Small Cell Lung Carcinoma.

2020

Abstract Progression on therapy in non-small cell lung carcinoma (NSCLC) is often evaluated radiographically, however, image-based evaluation of said therapies may not distinguish disease progression due to intrinsic tumor drug resistance or inefficient tumor penetration of the drugs. Here we report that the inhibition of mutated EGFR promotes the secretion of a potent vasoconstrictor, endothelin-1 (EDN1), which continues to increase as the cells become resistant with a mesenchymal phenotype. As EDN1 and its receptor (EDNR) is linked to cancer progression, EDNR-antagonists have been evaluated in several clinical trials with disappointing results. These trials were based on a hypothesis that…

Vascular Endothelial Growth Factor ACancer ResearchLung NeoplasmsAmbrisentanOncology and CarcinogenesisDrug ResistanceBiological AvailabilityAntineoplastic AgentsDrug resistanceCell LineMiceErlotinib HydrochlorideGefitinibIn vivomedicineAnimalsHumansOncology & CarcinogenesisNon-Small-Cell LungProtein Kinase InhibitorsLungCancerTumor microenvironmentTumorEndothelin-1business.industryCarcinomaLung CancerCancerEvaluation of treatments and therapeutic interventionsGefitinibmedicine.diseaseEndothelin 1Xenograft Model Antitumor AssaysErbB ReceptorsOncologyVasoconstriction5.1 Pharmaceuticals6.1 PharmaceuticalsCancer cellMutationCancer researchNeoplasmDevelopment of treatments and therapeutic interventionsbusinessmedicine.drug
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Tbx1 regulates Vegfr3 and is required for lymphatic vessel development

2010

Defects in lymphangiogenesis are added to the broad clinical manifestations of DiGeorge syndrome, caused by deletion of the T box transcription factor Tbx1.

Vascular Endothelial Growth Factor ATBX1Cellular differentiationBiologyMice03 medical and health sciences0302 clinical medicinestomatognathic systemReportLymphatic vesselmedicineAnimalsHumansLymphangiogenesisEnhancerCells CulturedResearch ArticlesLymphatic Vessels030304 developmental biology0303 health sciencesABNORMAL CAROTID ARTERIES; TRANSGENIC MICE; VELOCARDIOFACIAL SYNDROME; CARDIOVASCULAR DEFECTS; LYMPHANGIOGENESIS; LYMPHEDEMA; MOUSE; RECEPTOR-3; MUTATION; SYSTEMEndothelial CellsGene Expression Regulation DevelopmentalCell DifferentiationCell BiologyEmbryo Mammalian3. Good healthLymphangiogenesisCell biologyVascular endothelial growth factor ALymphatic systemmedicine.anatomical_structureVascular endothelial growth factor Cembryonic structuresImmunologyT-Box Domain Proteins030217 neurology & neurosurgeryJournal of Cell Biology
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Investigation on a MMACHC mutant from cblC disease: The c.394C>T variant

2022

The cblC disease is an inborn disorder of the vitamin B12 (cobalamin, Cbl) metabolism characterized by methylmalonic aciduria and homocystinuria. The clinical consequences of this disease are devastating and, even when early treated with current therapies, the affected children manifest symptoms involving vision, growth, and learning. The illness is caused by mutations in the gene codifying for MMACHC, a 282aa protein that transports and transforms the different Cbl forms. Here we present data on the structural properties of the truncated protein p.R132X resulting from the c.394C > T mutation that, along with c.271dupA and c.331C > T, is among the most common mutations in cblC. Althou…

Vitamin B12 (cobalamin)Structure-function relationshipBiophysicsBiochemistryAnalytical ChemistryVitamin B 12MutationMMACHC proteinHumansMethylmalonic aciduria and homocystinuria cblC typeHomocystinuriaCarrier ProteinsChildOxidoreductasesAmino Acid Metabolism Inborn ErrorsMolecular BiologyBiochimica et Biophysica Acta (BBA) - Proteins and Proteomics
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