Facultat de Biologia: Recent submissions
Now showing items 21-40 of 229
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 ...
Desarrollo de herramientas para el análisis y predicción patogénica de las variantes missense de ATM en el entorno clínico
[spa] Establecer la naturaleza patogénica de las variantes de secuencia en ATM, un gen asociado con el cáncer de mama y otros cánceres hereditarios, es crucial para brindar una atención adecuada a los pacientes. Sin embargo, ...
New therapeutic approaches to modulate metabolic alterations in the cardiovascular system. In vivo studies
[eng] BACKGROUND: Low-density lipoprotein receptor-related protein 1 (LRP1) plays a key role in fatty acid metabolism and glucose homeostasis. In the context of dyslipidemia, LRP1 is positively regulated in the heart. The ...
Contribución al estudio de la fauna bentónica del litoral de Blanes : Invertebrados neríticos con especial dedicación al grupo de las esponjas
[spa] Desde que en el siglo pasado empezaron a tomarse en consideración los entonces incipientes estudios de Biología Marina para racionalizar la pesca de la época, una de las primeras preocupaciones fue la pesca al arrastre, ...
From the discovery of epistatic events in Type 2 Diabetes Mellitus to the study of related gene expression regulatory variation
[eng] One of the major and most challenging goals of Biomedicine during the last centuries has been the study of the human biological mechanisms, and its relation with traits and diseases. Particularly, in the case of ...
Estudio de biomarcadores en los defectos de la fosforilación oxidativa mitocondrial y en las deficiencias de coenzima CoQ10
[spa] El objetivo general de este trabajo de tesis doctoral ha sido progresar en el desarrollo de biomarcadores para el estudio de pacientes con enfermedades mitocondriales. Los objetivos concretos han sido los ...
Nucleic acid and small molecule recognition by Smad transcription factors and co-factors
[eng] Tumour progression largely depends on the signalling networks that direct cell viability, growth and dissemination (metastasis). Transforming growth factor beta (TGF-β) and Bone Morphogenetic Protein (BMP) are cytokines ...
Evaluation of immunebiomarkers in Lung Cancer
[eng] Treatment landscape in early-stage NSCLC is rapidly changing after approval of anti-PD-1/PD-L1 in the neoadjuvant and adjuvant settings, respectively. However, biomarkers for patient selection, to predict response ...
