Facultat de Biologia: Recent submissions
Now showing items 21-40 of 250
Expansion of a Malignant Peripheral Nerve Sheath Tumor preclinical platform and its application in a high-throughput screening strategy to identify novel drug treatments
[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
[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
[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
[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
[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
[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
[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
[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
[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
[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
[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
[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
[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
[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
[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
[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
[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
[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 ...
Programas de splicing y desarrollo neuronal: función de la quinasa KIS
[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. ...
Uncovering the functional organization of molecular interaction networks using network embeddings based on graphlet topology
[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, ...
