Mostrando ítems 1-20 de 236

    Targeting the TGF-ß pathway, SMAD proteins and cofactors 

    Torner Blancafort, Carles (Fecha de defensa: 2024-07-10)

    [eng] TGF-ꞵ signaling is key for many biological processes as embryo development, tissue homeostasis and immune system regulation. When altered, this pathway can lead to diseases such as cancer, fibrosis and rare syndromes. ...

    Anomalous diffusion and search behavior in Caenorhabditis elegans 

    Lloret Cabot, Roger (Fecha de defensa: 2024-06-20)

    [eng] In this thesis, our focus was on unraveling how Caenorhabditis elegans samples its environment in the absence of gradients and food resources. We analyzed data from a relocation experiment in which individual worms, ...

    Genetic predisposition to radiotherapy-induced toxicity 

    Aguado Flor, Ester (Fecha de defensa: 2024-04-12)

    [eng] During radiotherapy (RT) some healthy tissues are irradiated inevitably causing side effects, without being able to predict nowadays which patients will develop this toxicity. To date, the biomarker with the best ...

    Estudio de la modulación de los receptores adenosinérgicos como tratamiento complementario en la Fibrosis Quística 

    Barranco Bartolomé, Paula (Fecha de defensa: 2024-05-24)

    [spa] La Fibrosis Quística (FQ) es una enfermedad autosómica recesiva causada por variantes patogénicas en el gen Cystic Fibrosis Transmembrane Regulator (CFTR). La proteína resultante, también llamada CFTR, se expresa en ...

    The diapause-like quiescent state of cancer cells presents a unique epigenetic profile and specific vulnerabilities 

    Ramponi, Valentina (Fecha de defensa: 2024-03-15)

    [eng] Anti-cancer therapies are based on the infliction of damage or stress to cancer cells, with the aim of triggering cell death. In practice, a fraction of cancer cells often evades cell death and enters a state of cell ...

    Caracterización de la microbiota intestinal en pacientes con ictus isquémico: un estudio metagenómico 

    Lledós i de Benito, Miquel (Fecha de defensa: 2024-03-15)

    [spa] Esta tesis investiga la asociación de la microbiota intestinal con el ictus isquémico. Se reclutaron un total de 340 pacientes con ictus, de los cuales se analizó una muestra fecal para obtener un perfil taxonómico ...

    Expansion of a Malignant Peripheral Nerve Sheath Tumor preclinical platform and its application in a high-throughput screening strategy to identify novel drug treatments 

    Creus Bachiller, Edgar (Fecha de defensa: 2024-03-13)

    [eng] Malignant Peripheral Nerve Sheath Tumors (MPNSTs) are aggressive soft-tissue sarcomas. They usually appear in the clinical context of Neurofibromatosis type 1 (NF1), however, they also occur at a low frequency in the ...

    Mechanistic insights into the role of the CPEB4 neuronspecific microexon in neurodevelopmental disorders 

    Bartomeu i Galan, Anna (Fecha de defensa: 2024-01-29)

    [eng] Cytoplasmic Polyadenylation Element Binding proteins (CPEBs) are a family of RNA-binding proteins that regulate cytoplasmic changes in poly(A) tail lengh and therefore mRNA-specific stability and translation. Since ...

    Role of kinase DYRK1A in the neurogenesis of the embryonic telencephalon 

    Trujillano Fernández, Alejandro (Fecha de defensa: 2024-02-08)

    [eng] DYRK1A is a kinase that is expressed in virtually all tissues and cell types and is implicated in human diseases. Several studies indicate that DYRK1A is a dose-dependent gene with a prevalent function in brain ...

    Variability in domain-scale regional mutation density across tissues and individuals 

    Salvadores Ferreiro, Marina (Fecha de defensa: 2024-01-18)

    [eng] Mutations exhibit an uneven distribution across the human genome, with a regional mutation density (RMD) influenced by chromatin landscapes and replication timing. While there is a good understanding of this variation, ...

    Mediator complex and transcriptional control of cellular identity and plasticity 

    Calvo Serrano, Isabel (Fecha de defensa: 2024-02-16)

    [eng] Our understanding of the transcriptional control of cellular identity is rapidly emerging. Mediator complex enriches at active enhancers, forms a protein bridge to target genes, and recruits RNA Polymerase II ...

    Adhesion molecules and effector T cells subsets associated with female genital tract infection 

    Qualai, Jamal (Fecha de defensa: 2023-12-04)

    [eng] Common sexually transmitted infections like gonorrhea, Chlamydia, syphilis, and trichomoniasis are the leading cause of morbidity in developing countries. Adolescents and young women have the highest rates of STIs ...

    Comprehensive analysis of diagnostic approaches and molecular landscape in Rett syndrome spectrum disorders 

    Xiol Viñas, Clara (Fecha de defensa: 2023-12-22)

    [eng] Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by a regression in acquired skills, such as purposeful hand use and language, after an apparently normal early development. RTT affects ...

    Binary pathogenicity classification of missense variants through development of quantitative protein-specific predictors 

    Özkan, Selen (Fecha de defensa: 2023-12-01)

    [eng] Precision medicine aims to provide personalized patient care using genetic data. However, interpreting the phenotypic consequences of genetic variants remains a bottleneck in both clinical and research settings. ...

    Study of the role of substrate stiffness and force transmission to the nucleus in nucleocytoplasmic transport, nuclear pore conformation, genome organization and gene expression 

    Molina Jordán, Marc (Fecha de defensa: 2023-12-04)

    [eng] The application of mechanical force to the nucleus has been recently shown to regulate important functions, including nucleocytoplasmic transport (NCT), chromatin organization, and gene expression. However, how ...

    Comparative genomics of recent adaptation in Candida pathogens 

    Schikora Tamarit, Miquel Àngel (Fecha de defensa: 2023-11-03)

    [eng] Fungal infections pose a serious health threat, affecting >1,000 million people and causing ~1.5 million deaths each year. The problem is growing due to insufficient diagnostic and therapeutic options, increased ...

    Deciphering the functional organization of molecular networks via graphlets-based methods and network embedding techniques 

    Doria Belenguer, Sergio (Fecha de defensa: 2023-10-07)

    [eng] Advances in capturing technologies have yielded a massive production of large-scale molecular data that describe different aspects of cellular functioning. These data are often modeled as networks, in which nodes are ...

    Evaluating protein folding predictions and functional annotations: A comprehensive analysis of recent advancements in the protein structural field 

    Ruiz Serra, Victoria Isabel (Fecha de defensa: 2023-11-08)

    [eng] Proteins are fundamental building blocks of life, and understanding their structure and function is crucial for many fields of science, from drug discovery to bioengineering. Traditional experimental methods for ...

    Unveiling the role of Slc7a7 in hematopoiesis 

    Giroud-Gernetant Deus, Judith (Fecha de defensa: 2023-11-20)

    [eng] Lysinuric Protein Intolerance (LPI) is a rare autosomal recessive disorder caused by mutations in the SLC7A7 gene, which encodes the y+LAT1 transporter. LPI presents a pleiotropic phenotype that varies among patients, ...

    Genetic Insights into the Heterogeneity and Comorbidity of Substance Use Disorders 

    Vilar Ribó, Laura (Fecha de defensa: 2023-11-20)

    [eng] Substance use disorders (SUDs) are psychiatric disorders characterized by a recurring desire to continue taking a substance regardless of its destructive consequences. The etiology of SUDs is complex and multifactorial, ...