Search results for "GENI"

showing 10 items of 6843 documents

Genetic analysis of familial Alzheimer’s disease, primary lateral sclerosis and paroxysmal kinesigenic dyskinesia: a tool to uncover common mechanist…

2021

Tesis doctoral 270 p. figuras y tablas

paroxysmal kinesigenic dyskinesiaamyotrophic lateral sclerosisUNESCO::CIENCIAS DE LA VIDAWhole exome sequencingParoxysmal kinesigenic dyskinesiaNnsense mediated mRNA decayalzheimer's diseaseAlzheimer's diseaseAmyotrophic lateral sclerosis:CIENCIAS DE LA VIDA [UNESCO]whole exome sequencingnonsense mediated mRNA decay
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IL PADRE E LA COSTRUZIONE DI UNA NUOVA IDENTITÀ GENITORIALE NELL’ITALIA DEGLI ANNI CINQUANTA

2016

La società tardo-moderna viene considerata una società senza padri: da un lato si denuncia la morte o l’eclisse del padre, dall’altro lato si auspica un suo ritorno. Prendendo l’avvio dalla contemporaneità, l’articolo analizza la fine della paternità come un fenomeno di lunga durata che riguarda la crisi del codice paterno autoritario e ne ricerca le radici nel piano della ricerca storica soffermandosi sull’Italia degli anni Cinquanta. Attraverso fonti audiovisive e letterarie viene ricostruita un’identità paterna che non sembra corrispondere a quella maggiormente diffusa nell’immaginario collettivo: essa non appare rassicurante, decisa, autoritaria, ma fragile, ambigua e da decifrare. Si t…

paternità famiglia educazione autorità genitoriale anni Cinquantafatherhood family education parental authority fiftiesSettore M-PED/02 - Storia Della Pedagogia
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Unioni civili, matrimoni omosessuali e diritto alla genitorialità. Una prospettiva pedagogica

2014

pedagogia sociale unioni civili matrimonio omosessuale omogenitorialitàSettore M-PED/01 - Pedagogia Generale E Sociale
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Testing for Lynch Syndrome in Endometrial Carcinoma: From Universal to Age-Selective MLH1 Methylation Analysis

2022

Simple Summary International guidelines recommend universal screening of endometrial carcinoma patients for Lynch syndrome, a hereditary cancer predisposition syndrome. Screening is based on mismatch repair protein immunohistochemistry and reflex MLH1 methylation analysis to exclude the likely sporadic cases of MMR deficiency. As sporadic MLH1 protein loss is common in endometrial carcinoma, the ability to target methylation testing would save efforts and costs. We discovered that limiting methylation testing to patients under 65 years would have significantly reduced the testing effort while maintaining a low false negative rate for MLH1-LS detection (0% and 3% in our clinic and registry-b…

perinnölliset tauditcongenital hereditary and neonatal diseases and abnormalitiesCancer Researchseulontatutkimusendometrial carcinoma; Lynch syndrome screening; MLH1 immunohistochemistry; <i>MLH1</i> methylation analysisMICROSATELLITE INSTABILITYMUTATIONS3122 Cancersikäryhmätnutritional and metabolic diseasesendometrial carcinomaCANCERdigestive system diseasesREGIONDNA-metylaatioMLH1 methylation analysiskohdunrungon syöpäOncologyLynch syndrome screeningMLH1 immunohistochemistryLynchin oireyhtymäCancers
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Piederības vietniekvārdi un to lietojums latviešu valodā

2017

Bakalaura darbā ir aplūkoti piederības vietniekvārdi, to atvasinājumi ar -ēj- un personas vietniekvārdu ģenitīvs piederības vietniekvārdu funkcijā. Šī pētījuma uzdevumi ir teorētisko materiālu vākšana, rakstveida un mutvārdu saziņas piemēru apkopošana un analizēšana, pētot šo vietniekvārdu funkciju teikumā. Bakalaura darba mērķis ir analizēt piederības vietniekvārdu funkciju teikumā un izprast to lietojumu latviešu valodā. Šī pētījuma nolūkos ir savākti aptuveni tūkstoš piemēru, kuri atspoguļo piederības vietniekvārdu lietojumu latviešu valodā. Bakalaura darbā analizētie piemēri ir no “Līdzsvarota mūsdienu latviešu valodas tekstu korpusa”, dažādiem ziņu portāliem, kā arī pašas autores fiksē…

personas vietniekvārdi - personal pronounspiederības vietniekvārdu atvasinājumi - derivatives of possessive pronounsģenitīvs - genitive caseFiloloģijapiederības vietniekvārdi - possessive pronouns
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Induction of body weight loss through RNAi-knockdown of APOBEC1 gene expression in transgenic rabbits

2014

In the search of new strategies to fight against obesity, we targeted a gene pathway involved in energy uptake. We have thus investigated the APOB mRNA editing protein (APOBEC1) gene pathway that is involved in fat absorption in the intestine. The APOB gene encodes two proteins, APOB100 and APOB48, via the editing of a single nucleotide in the APOB mRNA by the APOBEC1 enzyme. The APOB48 protein is mandatory for the synthesis of chylomicrons by intestinal cells to transport dietary lipids and cholesterol. We produced transgenic rabbits expressing permanently and ubiquitously a small hairpin RNA targeting the rabbit APOBEC1 mRNA. These rabbits exhibited a moderately but significantly reduced …

perte de poidsobesityApolipoprotein BAgricultural BiotechnologyGene Expressionlcsh:MedicinetransgenesisSmall hairpin RNAAnimals Genetically Modified0302 clinical medicinesirnaRNA interferenceGene expressionGene Knockdown TechniquesBiologie de la reproductionMedicine and Health SciencesTransgenesIntestinal MucosaRNA Small Interferinglcsh:Science[SDV.BDD]Life Sciences [q-bio]/Development Biology2. Zero hunger0303 health sciencesGene knockdownReproductive BiologyMultidisciplinarybiologyGenetically Modified OrganismsBiologie du développementapobec1; obesity; editing apob; apob100; apob48; chylomicron; intestine; rabbit; sirna; transgenesis; knockdownchylomicronknockdownAgricultureInherited Metabolic DisordersDevelopment BiologyobésitéCholesterolPhenotypeTransgenic Engineering[ SDV.BDLR ] Life Sciences [q-bio]/Reproductive BiologyLiverapobapob48Gene Knockdown Techniquesanimal transgéniqueRNA Interferencelipids (amino acids peptides and proteins)RabbitsGenetic EngineeringResearch ArticleBiotechnologyexpression géniqueTransgeneAPOBEC-1 DeaminaseMolecular Sequence DatarabbitDiet High-Fat03 medical and health sciencesintestinCytidine DeaminaseWeight Loss[SDV.BDD] Life Sciences [q-bio]/Development BiologyAnimalsHumanslapinRNA Messenger[ SDV.BDD ] Life Sciences [q-bio]/Development BiologyintestineTriglycerides[SDV.BDLR] Life Sciences [q-bio]/Reproductive Biology030304 developmental biologyapobec1Base SequenceGenetically Modified AnimalsAPOBEC1editinglcsh:RBiology and Life Sciences[SDV.BDLR]Life Sciences [q-bio]/Reproductive BiologyMolecular biologyapob100DyslipidemiaMetabolic Disordersbiology.proteinlcsh:QRNA EditingApolipoprotein B-48030217 neurology & neurosurgery
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Análisis poblacional y filogeográfico de vectores de la enfermedad de Chagas en Perú basado en análisis multigénicos del ADN ribosomal y mitocondrial

2017

La enfermedad de Chagas, cuyo agente causal es Trypanosoma cruzi, constituye un grave problema de salud pública en toda Latinoamérica. La principal forma de transmisión es la vectorial, de la que son responsables hemípteros redúvidos de la subfamilia Triatominae adaptados a los hábitats doméstico y peridoméstico. Puesto que el parásito se mantiene en un ciclo zoonótico silvestre y es imposible de eliminar, la principal forma de lucha contra la transmisión vectorial consiste en la eliminación de las poblaciones domiciliadas del vector. Los estudios moleculares constituyen una herramienta de gran utilidad a la hora de planificar las campañas de control vectorial, puesto que permiten conocer y…

perúfilogeniatriatominaeadn ribosomal (its-1 5.8s its-2):CIENCIAS MÉDICAS ::Patología::Parasitología [UNESCO]filogeografiaUNESCO::CIENCIAS MÉDICAS ::Patología::Parasitologíaadn mitocondrial (16s nd1 coi cytb)genética poblacionalhaplotipaje molecularenfermedad de chagas
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Fight evolution with evolution: plasmid‐dependent phages with a wide host range prevent the spread of antibiotic resistance

2013

The emergence of pathogenic bacteria resistant to multiple antibiotics is a serious worldwide public health concern. Whenever antibiotics are applied, the genes encoding for antibiotic resistance are selected for within bacterial populations. This has led to the prevalence of conjugative plasmids that carry resistance genes and can transfer themselves between diverse bacterial groups. In this study, we investigated whether it is feasible to attempt to prevent the spread of antibiotic resistances with a lytic bacteriophage, which can replicate in a wide range of gram‐negative bacteria harbouring conjugative drug resistance–conferring plasmids. The counter‐selection against the plasmid was sh…

phage therapyPhage therapymedicine.drug_classmedicine.medical_treatmentAntibioticsta3111medicine.disease_causeMicrobiologyBacteriophageAntibiotic resistancePlasmidfaagiterapiaevolution of antibiotic resistanceGeneticsmedicineta318sairaalabakteerithospital bacteriaEcology Evolution Behavior and SystematicsGeneticsbiologyta1182Pathogenic bacteriaOriginal Articlesbiology.organism_classificationconjugative plasmid-dependent phagesantibioottivastustuskykyfagiterapiaHorizontal gene transferta1181General Agricultural and Biological SciencesBacteriaantibioottiresistenssiconjugationEvolutionary Applications
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In Vitro Cytotoxic Effect of Aqueous Extracts from Leaves and Rhizomes of the Seagrass Posidonia oceanica (L.) Delile on HepG2 Liver Cancer Cells: Fo…

2023

Aqueous extracts from Posidonia oceanica’s green and brown (beached) leaves and rhizomes were prepared, submitted to phenolic compound and proteomic analysis, and examined for their potential cytotoxic effect on HepG2 liver cancer cells in culture. The chosen endpoints related to survival and death were cell viability and locomotory behavior, cell-cycle analysis, apoptosis and autophagy, mitochondrial membrane polarization, and cell redox state. Here, we show that 24 h exposure to both green-leaf- and rhizome-derived extracts decreased tumor cell number in a dose–response manner, with a mean half maximal inhibitory concentration (IC50) estimated at 83 and 11.5 μg of dry extract/mL, respecti…

phenolic compoundreactive oxygen specieSettore CHIM/10 - Chimica Degli AlimentiGeneral Immunology and MicrobiologycaspaseSettore BIO/05 - Zoologiaproteomic analysiscell biology; cell cycle; reactive oxygen species; wound healing assay; caspases; mitochondrial transmembrane potential; clonogenic assay; phenolic compounds; proteomic analysisGeneral Biochemistry Genetics and Molecular Biologycell biologymitochondrial transmembrane potentialcell cycleclonogenic assaySettore BIO/06 - Anatomia Comparata E CitologiaGeneral Agricultural and Biological Scienceswound healing assayBiology
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Early evolutionary colocalization of the nuclear ribosomal 5S and 45S gene families in seed plants: evidence from the living fossil gymnosperm Ginkgo…

2012

In seed plants, the colocalization of the 5S loci within the intergenic spacer (IGS) of the nuclear 45S tandem units is restricted to the phylogenetically derived Asteraceae family. However, fluorescent in situ hybridization (FISH) colocalization of both multigene families has also been observed in other unrelated seed plant lineages. Previous work has identified colocalization of 45S and 5S loci in Ginkgo biloba using FISH, but these observations have not been confirmed recently by sequencing a 1.8 kb IGS. In this work, we report the presence of the 45S–5S linkage in G. biloba, suggesting that in seed plants the molecular events leading to the restructuring of the ribosomal loci are much o…

phylogenetic relictDNA PlantPseudogeneMolecular Sequence Dataintergenic spacerrDNAEvolution MolecularGymnospermTranscription (biology)GeneticsGene family45S–5S unitGeneGenetics (clinical)In Situ Hybridization FluorescenceGeneticsCell NucleusbiologyFossilsGinkgoRNA Ribosomal 5SColocalizationChromosome MappingGinkgo bilobaGenes rRNARibosomal RNAbiology.organism_classificationribosomal pseudogenes gymnospermSeedsOriginal Article
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