Programa de Doctorat en Biomedicina: Enviaments recents
Ara mostrant els elements 121-140 de 1445
A multiscale spatiotemporal map of protein-RNA assemblies in human cells
RNA metabolism is dynamically orchestrated by RNA-binding proteins (RBPs) in different subcellular spaces. Aberrant regulation of the subcellular RNA-protein interactions leads to severe diseases, such as neural degenerations ...
Somatic and germline mutational processes and the evolution of cancer drives genes
Cancer develops from healthy cells due to mutations in around 600 cancer driver genes. These mutations, along with neutral ones, are generated from DNA mutational processes, creating distinct patterns known as mutational ...
Synthetic biology for microbiome-based genetic domestication of the skin and the sea
Microorganisms exhibit remarkable adaptability and represent a vast genetic resource. Synthetic biology aims to leverage this diversity for sustainability and medicine. However, many microbes remain unexplored due to limited ...
Enhancing environmental risk scores with informed machine learning and explainable AI
This thesis explores the development of Environmental Risk Scores (ERSs) that go beyond traditional linear models to capture nonlinear relationships and interactions among a wide range of environmental exposures. Utilizing ...
Investigating cellular hierarchies in acute myeloid leukemia using single-cell genomics
Acute myeloid leukemia is an aggressive type of blood cancer with a poor survival rate. Leukemic stem cells (LSCs) govern the disease by producing rapidly dividing progenitor cells and driving relapse. Molecular characterization ...
Exposure to disinfection by-products and per- and polyfluoroalkyl substances in Barcelona's drinking water and associations with early life outcomes
Los productos químicos como los subproductos de desinfección (DBP) y las sustancias per- y polifluoroalquiladas (PFAS) se encuentran en el agua potable debido a su formación en los sistemas de distribución o su eliminación ...
Multi-omics characterization of histone H1 variants genomic distribution and their contribution to chromatin compartmentalization and transposable elements regulation
The human histone H1 family comprises up to seven somatic subtypes. Using an integrative multi-omics approach that incorporates ChIP-Seq, Hi-C, RNA-Seq, and ATAC-Seq data, this thesis explores the genome-wide distribution ...
Desigualtats socials en salut en la població infantil a Catalunya: situació actual i perspectives d'acció
La present tesi descriu i analitza les desigualtats socials i econòmiques en la salut de la població infantil. Posa especial èmfasi en aquelles patologies més rellevants i en grups de població amb alt risc clínic. Altrament, ...
Género, vivienda y salud: encuentros con la vivienda desde una perspectiva interseccional
El objetivo de esta tesis es ampliar la comprensión de la relación entre vivienda y salud desde una perspectiva interseccional, y analizar los mecanismos que operan en esta relación. Realizamos tres estudios: 1) una revisión ...
Evolutionary genomics of gorillas: from ghost introgession to recent dispersal
Population genetics addresses evolutionary change in populations through time. Here we take a multifaceted approach to uncover the evolutionary history of gorillas. Firstly, we modelled the demographic history of gorillas ...
Investigating protein functions of understudied genes, proteoforms and novel localisations
The eukaryotic protein landscape, although extensively studied, still harbors a vast array of uncharacterized functional proteoforms that limit our understanding of biological processes. This thesis explores three aspects: ...
Design and implementation of a next-generation sequencing test for the fast and cost-effective SARS-CoV-2 differantial diagnosis and variant detection
In the beginning of 2020 the WHO declared a pandemic that was initiated by the outbreak of a new virus named as severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) that quickly spread globally, challenging our ...
Medical nanotechnology applications in regulatory science: strategic policy development for the regulatory assessment of nanotechnology-enabled health products
Nanotechnology promises to revolutionize healthcare, but complex regulations slow its market introduction. This thesis examines the gap between nanomedicine research and its commercialization, addressing the 'valley of ...
A 3D multi-modal approach to study neuronal differentiation and tissue growth in the zebrafish hindbrain
The process by which the diversity of neurons making up the brain are produced relies on precise adjustments across space and time. Proneural genes are main drivers of neurogenesis across the different areas of the brain ...
Brain resilience, vulnerability, and modifiable risk factors in populations at risk of Alzheimer's disease
This thesis explores early pathophysiological processes related to Alzheimer’s disease (AD) and their associations with modifiable factors in cognitively unimpaired, middle-aged individuals at risk of AD. Through five ...
CSDE1 isoforms in cancer progression and suppression
The RNA-binding protein CSDE1 is a key regulator of mRNA stability and translation, involved in a wide range of biological processes. Alterations of CSDE1 expression and/or genetic mutations have been found in neurode ...
Discovery and evolutionary analysis of novel genes and translated ORFs
This thesis analyzes the generation of new genes created de novo and evaluates their evolution mainly in yeast but also in flies. First of all, we used next generation sequencing technology to analyze both new sequences ...
The gastrulating zebrafish under heat waves and cold spells: developmental robustness and vulnerabilities under changing temperatures
Temperature affects all processes, including development, and yet, it remains unknown how and/or if underlying mechanical and biochemical events are coordinated to slow down development robustly at lower temperatures. Here, ...
Electrical conductivity of hepatic tissue and its manipulation by intraarterial infusion of glucose: preliminary in vivo experiences in rats and patients
This study explores the potential of irreversible electroporation (IRE) in the treatment of scattered liver tumors, focusing on the electrical properties of the tissue. The administration of a 5% glucose solution (GS5%) ...
Mapping protein-coding genomes to phenomes: a phylogenetic perspective
In the current genomics era, it is essential to understand how the existing genomics diversity across evolution is linked to the enormous diversity we observe at the phenotypic level. Until now, Genome-wide association ...
