Facultat de Biologia: Recent submissions
Now showing items 1-20 of 247
Deciphering the importance of heterogeneity in Myotonic Dystrophy type 1
[eng] Myotonic dystrophy type 1 (DM1) is a genetic and multisystemic muscular dystrophy with autosomal dominant inheritance. It is caused by a CTG expansion in the 3’ end of DMPK gene. Symptoms are mainly caused by the ...
Towards a large-scale human inflammation atlas at single-cell resolution
[eng] Inflammation is a physiological response essential for maintaining homeostasis, but when the immune system becomes dysregulated, it can drive a range of pathological conditions and become a key contributor to many ...
Enhancing variant classification in hereditary breast and ovarian cancer predisposition genes through splicing analysis and new tumour evidence
[eng] The clinical management of hereditary breast and ovarian cancer (HBOC) families relies on identifying germline pathogenic variants in cancer susceptibility genes, such as BRCA1 and BRCA2. However, genetic testing ...
Monocytes and macrophages in cancer: investigating their potential as disease biomarkers and therapeutic targets
[eng] Cancer is the leading cause of death worldwide, with lung and liver cancers being major contributors. Liver cancer is often preceded by cirrhosis, considered as the final stage of chronic liver disease. Recognizing ...
Spatiotemporal Changes in Mountain Plant Communities of the Central-Eastern Region of the Trans-Mexican Volcanic Belt Over the Last 17,000 Years
[eng] Neotropical mountains are known for their high biodiversity and endemism, providing numerous ecosystem services to the surrounding areas. However, mountain biodiversity is rapidly declining due to climate change ...
Characterization of maternal histone mRNAs
[eng] In eukaryotes, histone proteins bind and pack genomic DNA into chromatin. The basic structural subunit of chromatin is the nucleosome, which is formed by the interaction of an octamer of the core histone proteins ...
Exploring the chromatin landscape and gene expression mechanisms
[eng] The interplay between chromatin, transcription factors and genes defines a complex gene regulatory system whose study is essential to understand cell differentiation and how relevant cell functions are maintained or ...
Genomic applications to the study of Western Mediterranean amphibians and reptiles, with a focus on the genera Calotriton, Iberolacerta, and Vipera
[eng] The advent of genomics has revolutionized the study of reptiles and amphibians at different levels and fields. In particular, this thesis deals with the applications of genomics to systematics, conservation and ...
Next Generation Sequencing in Early-Onset Parkinson’s Disease: Insights into the Role of Endo-Lysosomal Pathway from Genetic Knowledge
[eng] Parkinson’s Disease (PD) is the second most common neurodegenerative disorder, with an etiology remaining unknown in the majority of patients. From a genetic perspective, PD is classified into Mendelian cases (15%) ...
WNT pathway regulation of lipid handling and inflammation in organ function: the role of LRP5
[eng] INTRODUCTION: cardiovascular diseases are the first cause of premature mortality worldwide. Atherosclerosis is the most common underlying cause of cardiovascular disease. This is a complex condition triggered by the ...
Molecular characterization of the histone demethylase PHF2 in maintaining proliferation, homeostasis and genomic integrity of neural progenitors
[eng] The histone demethylase PHF2, previously studied in the laboratory, has been shown to be crucial for the expansion of neural progenitors by maintaining low levels of H3K9me2/3 at the promoters of cell cycle and ...
Targeting the TGF-ß pathway, SMAD proteins and cofactors
[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
[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
[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
[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
[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
[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
[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 ...
