Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 12 of 12 for “"Settore BIOS-14/A - Genetica"”.
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INHIBITING THE NUCLEAR RECEPTOR ESRRA RESCUES CORE PATHOLOGIES IN CELLULAR AND ANIMAL MODELS OF BATTEN DISEASE
Batten disease (BD), a group of fatal neurodegenerative lysosomal storage disorders, is characterized by vision loss, cognitive decline, and seizures. Our lab recently identified the accumulation of the glycosphingolipid Gb3 as a key pathological hallmark in multiple BD subtypes (Soldati et al., …
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GENOME-WIDE ASSOCIATION STUDY OF NON-INVASIVE ASSESSMENT OF LIVER FIBROSIS IN MASLD: EVIDENCE FROM AN ITALIAN POPULATION
Metabolic Associated Steatotic Liver Disease (MASLD) is the most prevalent cause of chronic liver disease worldwide and a significant risk factor for cirrhosis and hepatocellular carcinoma (HCC). Despite its pathogenesis being determined by both environmental and genetic determinants, the genetic …
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The nucleolar protein NOC1 is essential for ribosome biogenesis, and its reduction activates a novel MYC-p53 axis mediating nucleolar stress
Ribosome biogenesis is a complex cellular process that relies on the coordinated action of numerous nucleolar proteins and RNAs; a crucial step in this mechanism is represented by rRNA processing and maturation. Defects in this process result in a condition known as nucleolar stress, a field of …
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THE ALTERNATIVE SPLICING OF NF-YA REGULATES MOUSE EMBRYONIC STEM CELLS DIFFERENTIATION
Embryogenesis is governed by a fine balance between pluripotency and differentiation controlled by a handful of Transcription Factors (TFs). Some are implied in the maintenance of self-renewal and pluripotency of Embryonic Stem Cells (ESC), others drive cell lineage decisions which give rise to the …
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PHARMACOGENOMICS OF OPIOID RESPONSE IN EUROPEAN ADVANCED CANCER PATIENTS
… Pvalue < 1.0 × 10−5) were found. Among these, 14 variants on chromosome 2 mapped in intronic regions of NPAS2 gene, which encodes a circadian transcription factor. This gene is reported to influence the sleep-awake cycles; several studies suggested a reciprocal link between the circadian and …
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MODIFYING PHYLLOTAXIS IN BRASSICA SEED CROP SPECIES FOR YIELD IMPROVEMENT
In un mondo in continua crescita è cruciale aumentare le rese agricole per garantire un adeguato accesso al cibo a tutta la popolazione mondiale, minimizzando l’impatto ambientale. La resa di una pianta è influenzata da molti fattori, tra cui l’architettura dell’infiorescenza e la sua …
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STRUCTURAL ANALYSES OF TRANSCRIPTION FACTOR/DNA COMPLEXES: NFI-X AND NF-Y
Binding of transcription factors (TFs) to discrete sequences in gene promoters and enhancers is crucial to the process by which genetic information is transferred to biological functions. TF structural analysis is the key to understanding their DNA-binding mode and for the design of specific …
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OPTIMIZING PHOTOSYNTHESIS IN BARLEY TO INCREASE BIOMASS AND GRAIN YIELD
… ottenuti grazie ai progressi in ingegneria genetica. In questo studio sono state considerate due strategie a breve termine per migliorare l'efficienza della conversione dell'energia solare nel processo fotosintetico. In primo luogo, la riduzione della dimensione dei complessi di raccolta …
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NOVEL INSIGHTS ON ALLAN-HERNDON-DUDLEY SYNDROME: TRANSCRIPTIONAL PROFILING AND FUNCTIONAL CHARACTERIZATION OF THREE GENETIC VARIANTS IN SLC16A2 GENE
… in AHDS affected pediatric patients, on the pathogenetically mechanisms of AHDS. Particularly, from skin biopsies, we isolated primary fibroblasts from 3 AHDS patients and 2 healthy controls matched by sex and age to study the pathological readouts of the disease and identify novel related …
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EXPLORING THE ANTI-INFLAMMATORY POTENTIAL OF ANTHOCYANIN-RICH CROPS
Le antocianine (ACNs) sono una classe di pigmenti rosso-viola appartenenti alla famiglia dei flavonoidi e ampiamente presenti nella dieta umana. Il loro consumo è correlato con un minor rischio di patologie cronico-degenerative grazie alla loro capacità di regolare diversi pathway, primo tra …
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CRISPR AS A TOOL FOR TARGET DISCOVERY AND TECHNOLOGICAL INNOVATION: HIGH-THROUGHPUT CBE SCREENING TO EVALUATE M6A MODIFICATION PATHWAY IN CANCER PROLIFERATION AND DRUG RESISTANCE, AND INNOVATIVE PRIME EDITING STRATEGIES FOR DISEASE MODELLING AND THERAPY
… 3 (METTL3) and methyltransferase-like 14 (METTL14) that form a heterodimer regulated by the METTL-associated complex (MACOM). Its removal is mediated by “erasers”, including fat-mass and obesity-associated protein (FTO), while the methylated adenosines of RNAs are detected by “readers”, …
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DISSECTING THE POLYGENIC LANDSCAPE OF HUMAN COMPLEX TRAITS AND DISEASES IN A SOUTHERN ITALIAN COHORT
Complex traits and diseases are shaped by the combined effects of common and rare genetic variants, yet their contribution to risk is still poorly characterised in Southern European populations. This thesis addresses this gap by analysing the genetic architecture of traits and diseases in Italy, …