Now showing items 1-20 of 225

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

    Xiol Viñas, Clara (Date of defense: 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 ...

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

    Qualai, Jamal (Date of defense: 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 ...

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

    Özkan, Selen (Date of defense: 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 (Date of defense: 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 (Date of defense: 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 (Date of defense: 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 (Date of defense: 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 (Date of defense: 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 (Date of defense: 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, ...

    Implementació i desenvolupament d'estudis funcionals per demostrar la patogenicitat de variants de significat incert i identificar nous gens causants de malaltia 

    Muñoz Pujol, Gerard (Date of defense: 2023-11-23)

    [cat] Les malalties metabòliques hereditàries (MMH) són un grup de patologies amb una gran heterogeneïtat clínica, bioquímica i genètica. Actualment se n’han descrit més de 1 800. En l’última dècada la implementació de ...

    Characterization of mRNA expression and localization in synaptic plasticity 

    Mendoza Blanco, Mónica (Date of defense: 2023-11-24)

    [eng] Neurons are highly polarized cells that require protein synthesis in distal dendrites to fulfil local protein requirements on short timescales. The regulation of this process relies in two major sub processes: the ...

    Development of DNA methylation biomarkers to study epigenetic inheritance and integration of environmental stimuli 

    Sánchez Baizán, Núria (Date of defense: 2023-10-27)

    [eng] Epigenetic mechanisms play a vital role in gene expression regulation and phenotype determination. This thesis aimed to comprehensively investigate the transcriptome, the methylome and the influence of intrinsic (such ...

    Integrating structural and X-chromosome variants in genetic studies of complex diseases 

    Matías Sánchez, Daniel (Date of defense: 2023-10-27)

    [eng] In recent years, the genetics field has placed a significant emphasis on identifying and characterizing genetic factors contributing to complex diseases, alongside environmental factors. Genome-wide association ...

    Uncovering the functional organization of molecular interaction networks using network embeddings based on graphlet topology 

    Tello Velasco, Daniel (Date of defense: 2023-09-19)

    [eng] For this purpose, Spatial Analysis of Functional Enrichment (SAFE) framework was proposed to uncover functional regions in a network by embedding it in 2-dimensions (2D) using the Spring embedding algorithm. However, ...

    Systematic characterization of the genome-wide and nuclear distribution of six linker histone H1 variants in human cancer cells 

    Salinas Pena, Mónica (Date of defense: 2023-09-20)

    [eng] The histone H1 family comprises up to seven members in human somatic cells. However, H1 studies have been limited by the lack of specific ChIP-grade antibodies. Here, we have mapped six endogenous H1 variants in T47D ...

    Programas de splicing y desarrollo neuronal: función de la quinasa KIS 

    Moreno Aguilera, Marcos (Date of defense: 2023-09-29)

    [spa] El splicing alternativo es un proceso que además de proporcionar diversidad al transcriptoma y proteoma celular, añade una nueva capa de regulación en la expresión de proteínas y en la función que estas desempeñan. ...

    Evaluación de ensayos de alta sensibilidad para mejorar la identificación y el seguimiento de individuos con síndromes de cáncer hereditario asociados a deficiencia de reparación de errores de apareamiento 

    Canet Hermida, Julia (Date of defense: 2023-09-14)

    [spa] Tanto las variantes patogénicas como las epimutaciones constitucionales en los genes del sistema de reparación de errores de apareamiento (mismatch repair, MMR), MLH1, MSH2, MSH6 y PMS2, son responsables de los ...

    Linker histones function in chromosomal RNAs homeostasis and chromatin dynamics 

    Bujosa Rodriguez, Paula (Date of defense: 2023-09-27)

    [eng] Linker histones are essential proteins involved in higher-order chromatin structures and architectural functions. However, their roles extend beyond structure, encompassing various chromatin metabolic processes such ...

    Genetic and molecular biomarkers of Alzheimer's disease 

    Rojas Salarich, Itziar de (Date of defense: 2023-07-05)

    [eng] Alzheimer’s disease (AD) is the leading cause of dementia worldwide. Research in the past decade has led to major progress in understanding the genetic etiology of the disease; since I started my PhD (2019), nearly ...

    Integrative Genomic Analyses of Malignant Peripheral Nerve Sheath Tumors 

    Magallón Lorenz, Miriam (Date of defense: 2023-07-07)

    [eng] Malignant peripheral nerve sheath tumors (MPNSTs) are rare soft-tissues sarcomas of the peripheral nervous system (PNS) with poor prognosis and lack of therapeutic options. Complete resection with wide margins of the ...