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 20 of 24 for “"Settore BIOS-10/A - Biologia cellulare e applicata"”.
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THE TRANSCRIPTIONAL PROGRAM OF GOLGI BIOGENESIS
… stacks in a substantial cohort of cells within 10-18 hours. The structural and functional recovery of the Golgi allowed us to study transcriptomic changes associated with Golgi regeneration. Indeed, Single-cell RNA-seq of cells rebuilding the Golgi revealed coordinated induction of a broad Golgi …
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CORRECTION OF THE GENETIC DEFECT IN INDUCED PLURIPOTENT STEM CELL LINES THROUGH CHROMOSOME TRANSPLANTATION
Since the discovery of stem cell in 1961, the knowledge and applications of pluripotent stem cells have expanded significantly, opening remarkable opportunities for fundamental discoveries and biomedical advancements, such as regenerative medicine, disease modelling, and drug screening. A pivotal …
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INVESTIGATING EPIGENETIC MECHANISMS OF CHEMORESISTANCE IN OVARIAN CANCER: THE ROLE OF H3K27ME3
… compared to Long-Term Survivors (LTS) (> 10 years after diagnosis), with an improved sensitivity to the platinum-based treatment. By epi-proteomic profiling, we also confirmed a similar loss of this histone mark in an independent clinical cohort of chemoresistant tumours, compared to …
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MODELING COHESIN-DEPENDENT ONCOGENESIS IN VITRO AND IN VIVO: POSSIBLE AMELIORATIVE EFFECTS OF PARP INHIBITION
The cohesin complex performs essential cellular functions including regulation of chromosome cohesion, chromatin 3D architecture and DNA repair. Somatic pathogenetic variants in cohesin genes have been associated with tumorigenesis but it is unclear their contribution to brain tumors. Hence, I …
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ROLE OF ATM IN THE PATHOPHYSIOLOGY OF MAJOR DEPRESSIVE DISORDER (MDD)
Ataxia-telangiectasia mutated (ATM) is a serine/threonine protein kinase involved in the DNA damage repair (DDR) and many other cell processes. In neurons, ATM contributes to vesicles trafficking, neurotransmitter release, excitatory/inhibitory balance maintenance, the development of GABAergic …
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INVESTIGATING THE ROLE OF SNAP29 AND THE AUTOPHAGY PATHWAY IN DROSOPHILA MELANOGASTER MODELS OF C9ORF72 - LINKED ALS/FTD.
It is now well established that the autophagy pathway, responsible for clearing damaged proteins and organelles, progressively declines in normal aging and in neurodegenerative diseases, leading to toxic protein aggregate accumulation. Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia …
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PROBABILISTIC AND DEEP LEARNING APPROACHES TO MODELING BIOLOGICAL SYSTEMS
This thesis investigates probabilistic and deep learning methods for modeling biological systems across various scales, with a specific focus on cancer. The aim is to develop models that are both quantitatively rigorous and biologically meaningful. In the first part, I present a hierarchical …
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PREPARATION OF NANO- AND MOLECULAR COMPOUNDS FOR ANTITUMORAL APPLICATIONS TRIGGERED BY LIGHT
The PhD thesis comprises 5 research projects, all dealing with the preparation of compounds for antitumoral applications, involving different types of compounds: nanocomposite materials, organometallic complexes, and organic compounds. The antitumoral action of most of these systems was based on …
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FROM A PLACODE PROGENITOR PLATFORM TO A TRIGEMINAL GANGLION ORGANOID: MODELLING SENSORY DEVELOPMENT AND FUNCTION IN VITRO
The trigeminal ganglion (TG) is composed of peripheral sensory neurons which transmit pain, temperature and touch information from the face to the brain. Developmentally, it originates from an ectodermal population named pre-placodal ectoderm, which is marked by the expression of the transcription …
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3D KIDNEY ORGANOIDS AS A PLATFORM FOR INVESTIGATING MONOGENIC DISEASES AND GENE THERAPY APPROACHES
Abstract The use of 3D in vitro models is now widely adopted in biomedical research. These models enable the study of human cells under more physiologically relevant conditions and allow for early proof-of-concept testing of therapies prior to animal studies. While 3D models do not replace …
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DECODING CELLULAR AND TEMPORAL VARIABILITY IN HUMAN CORTICAL DEVELOPMENT. INTEGRATING SINGLE-CELL TRANSCRIPTOMICS ACROSS DEVELOPMENTAL STAGES AND EXPERIMENTAL MODELS.
The human cortex is composed of heterogeneous neurons and glia that interact to facilitate complex brain functions. However, studying their development over decades has been technically challenging due to limitations in data access and representation. Recent advances in single-cell profiling have …
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INVESTIGATING THE ROLE OF DEFECTIVE CELL TO CELL COMMUNICATION MECHANISMS IN RETT SYNDROME PATHOGENESIS
Rett syndrome (RTT) is a devastating neurodevelopmental disorder representing the main cause of severe intellectual disability in girls worldwide. Over 95% of individuals suffering from a classic form of RTT carry sporadic mutations in the X-linked MECP2 gene, encoding for the methyl-GpC-binding …
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NOVEL INSIGHTS INTO GENETIC AND ENVIRONMENTAL DETERMINANTS SHAPING GNRH NEURON BIOLOGY AND RELATED REPRODUCTIVE DISORDERS
The hypothalamic-pituitary-gonadal (HPG) axis is a conserved neuroendocrine system essential for reproductive function in vertebrates. Central to this axis is the secretion of gonadotropin-releasing hormone (GnRH), a neuropeptide that stimulates the release of gonadotropins from the pituitary, …
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AMPK-MEDIATED LONG-TERM REGULATION OF HCN4CONTRIBUTES TO AGE-RELATED SINUS BRADYCARDIA
Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels mediates inward depolarizing currents, called If in the heart and Ih in the brain, that contribute to the regulation of neuronal excitability and cardiac rhythm. Among the HCN isotypes, HCN4 stands out for its prominent role in …
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THE INTERGENERATIONAL IMPACT OF ENVIRONMENTAL EXPOSURES: MOLECULAR INSIGHTS FROM MODELLING PLURIPOTENCY TRANSITIONS THROUGH THE HUMAN GERMLINE
How environmental exposures shape inheritance across generations is a fundamental question in biology, with far-reaching implications for human health. Despite evidence of such inheritance in animal models, its mechanisms and relevance in humans remain elusive due to key challenges: (i) the …
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AR-A IPSCS: GENERATION OF AN ADVANCED CELLULAR MODEL TO INVESTIGATE A NOVEL THERAPEUTIC APPROACH FOR SBMA
Spinal and Bulbar Muscular Atrophy (SBMA) is a rare, highly disabling, neurodegenerative disease that unfortunately still lacks an effective treatment to date. Patients affected by SBMA present muscular impairment, characterized by cramps and muscle twitching in the early stages and by difficulty …
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UNCOVERING LNCRNA-CHROMATIN INTERACTIONS SHAPING HUMAN MONOCYTE TO MACROPHAGE DIFFERENTIATION
Mammalian genomes are pervasively transcribed, producing a large repertoire of coding and non-coding transcripts, that can associate with chromatin and contribute to the regulation of genome organization and gene expression. However, the functional roles of most chromatin-associated RNAs, …
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MUSCLE-SPECIFIC MECP2 MISEXPRESSION INDUCES SKELETAL AND VISCERAL MUSCLE DEFECTS RESCUED BY BUTYRATE SUPPLEMENTATION IN DROSOPHILA
… enhance or suppress wild-type MECP2 phenotypes. R106W suppressed lethality and caused mild muscle disruption, consistent with loss of function. Δ166 enhanced lethality but caused minimal pathology, suggesting a benign effect. R294X produced strong muscle phenotypes and variable lethality across …
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