Facultat de Biologia: Recent submissions
Now showing items 21-40 of 236
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, ...
Systematic characterization of the genome-wide and nuclear distribution of six linker histone H1 variants in human cancer cells
[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 ...
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
[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
[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
[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
[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 ...
A journey towards the identification of novel therapeutical strategies for advanced cholangiocarcinoma with IDH1 mutations
[eng] The field of cancer treatment has shifted towards personalized medicine, driven by advancements in understanding molecular and genetic abnormalities and identifying specific targets within cancer cells. Precision ...
Study and characterization of the Drosophila wg(1)-enhancer in development, regeneration and tumorigenesis
[eng] Enhancers are the master regulators of gene expression. Genes rely on them to be differentially expressed in different tissues, developmental time points or contexts. In recent years, it has been reported that although ...
Aging impacts epidermal and dermal cell interaction
[eng] Aging can be defined as a decline or loss of adaptation during the increase of age, caused by a progressive deterioration of functions and integrity. This occurs in tissues such as the skin, which presents deep ...
Cellular senescence and adaptive immune responses
[eng] Cellular senescence is a response to stress and damage, ant it is known to activate innate immune cells. However, the mechanisms by which senescent cells interact with the adaptive arm of the immune system and their ...
Interplay of genetic, epigenetic and transcription factors in the regulation of transcriptional variation in Plasmodium falciparum
[eng] The most severe form of malaria, caused by Plasmodium falciparum parasites, still kills over half a million people every year, most of them children under the age of five. Despite huge research efforts, reduction in ...
Building Human Spinal Cord Organoids (huSpineOrg) biomodels to study neural tube defects
[eng] The Central nervous system (CNS) originates from the coordinated events that result into neural specification and the morphogenic events that shape the neural tube (NT). Then, the embryonic NT should grow and generate ...
Chemical tools for the study of sphingolipid metabolism in diseases
[eng] The main goals of this PhD thesis are closely related within the field of CDases and their key role in the regulation of sphingolipid metabolism. Thus, the roles of ACER3 and AC in different human diseases are of ...
Mecanismos moleculares en el daño por isquemia en la preservación fría del hígado graso
[spa] La lesión por isquemia-reperfusión (IR) es la mayor causa de pérdida y disfunción de tejidos y órganos en trasplantes clínicos, como es el trasplante hepático. Durante la isquemia, la carencia de oxígeno provoca ...
Role of p38alpha kinase in myeloid cells during lung metastasis and inflammation
[eng] The lungs are constantly exposed to external particles and microbes, so their particular immune environment is immunosuppressive to avoid unnecessary inflammatory responses. This increases the susceptibility of this ...
