Now showing items 101-120 of 236
Mazuelas Gallego, Helena (Date of defense: 2021-01-28)
Neurofibromatosis type 1 (NF1) is a genetic disease caused by inherited mutations in the NF1 gene. NF1 is a cancer predisposition syndrome, and the disease’s hallmark is the appearance of tumors of the peripheral nervous ...
Garcia de Vinuesa Gutiérrez, Alfredo (Date of defense: 2021-01-29)
En el mar Mediterráneo existen hábitats especialmente productivos como los fondos de maërl y de agregación de crinoideos, que son explotados en la actualidad por la flota de arrastre. Esta actividad supone un impacto que ...
Rodriguez Fos, Elias (Date of defense: 2020-07-15)
This thesis illustrates the work I have developed as a Ph.D. student in the computational genomics group lead by Dr. David Torrents at the Barcelona Supercomputing Center. The group’s expertise in the analysis of biological ...
Merenciano, Miriam (Date of defense: 2020-03-06)
Understanding how organisms adapt to their environment remains an open question in Biology. So far, most projects focus on the study of single nucleotide polymorphism variants, while other types of mutations, likely to ...
Valdivieso Muñoz, Alejandro (Date of defense: 2020-03-05)
In many organisms, sex is determined by a combination of genetic and environmental influences. Epigenetic regulatory mechanisms such as DNA methylation integrate both types of influences. However, understanding how genetic ...
Català Moll, Francisco (Date of defense: 2020-06-08)
Epigenetic factors, such as histone post-translational modifications and DNA methylation, are critical determinants of gene expression, which ultimately defines cell identity and function. Despite intense research in DNA ...
Rodríguez Vaello, Victoria Eugenia (Date of defense: 2020-12-11)
A fundamental step in embryo development is the transition through pluripotency. There are two known sequential states of pluripotency termed naïve and primed pluripotency. Considerable efforts have been made to characterize ...
Ferrero Andrés, Ana (Date of defense: 2020-12-22)
A pesar de las extensas investigaciones durante las últimas décadas, la pancreatitis aguda (PA) continúa siendo un reto para el manejo clínico, con una importante carga de morbilidad, mortalidad y coste, cuando la enfermedad ...
Cañete Ríos, Manuel (Date of defense: 2020-11-27)
Xenopus laevis oocytes are transcriptionally silent cells that require hormone stimulation for maturing into fecundation-competent eggs. Meiosis resumption underlying oocyte maturation is governed by sequential waves of ...
Segura Martinez, Joana (Date of defense: 2020-11-02)
El empaquetamiento del ADN en fibras de cromatina implica una gran cantidad de deformaciones geométricas de la doble hélice (enrollamiento y superenrollamiento del ADN) y la formación de una jerarquía de asas o dominios ...
Ramos Rodríguez, Mireia (Date of defense: 2020-11-06)
Type 1 Diabetes (T1D) is a celltargeted autoimmune disease, leading to a reduction in pancreatic cell mass that renders patients insulindependent for life. In early stages of the disease, cells from the immune system ...
Llobet i Lorente, Ma. Dolors (Date of defense: 2020-11-06)
La patologia associada a l’hemostàsia primària ha estat clàssicament relacionada amb diàtesi hemorràgica (malaltia de von Willebrand, Síndrome de Bernard- Soulier, malaltia de Glanzmann, trombopènia, etc) on s’ha valorat ...
Lema Amado, Rafael (Date of defense: 2020-11-19)
The connection between DNA folding and chromatin conformation has been much studied but the relation between the modulation of chromatin conformation and biological processes such as DNA damage, cell differentiation and ...
Balmori de la Puente, Alfonso (Date of defense: 2020-10-23)
Phylogenetic and phylogeographic methods allow studying the evolutionary relationships between populations and species, patterns of genetic structure, and historical events that have modelled the current distribution of ...
Planas Fèlix, Mercè (Date of defense: 2020-10-05)
The identification and analysis of genomic variation across individuals has been central in biology, first through comparative genomics to answer evolutionary questions, and then in the context of biomedicine, where it is ...
Santos Tapia, Celia (Date of defense: 2019-10-30)
Aneuploidy, defined as a chromosome number that deviates from a multiple of the haploid set, is a common feature in human cancer, and around 70% of human solid tumours are aneuploid. The resulting metabolic imbalance is ...
Hardy-Werbin, Max (Date of defense: 2020-01-30)
El cáncer de pulmón de célula pequeña (CPCP) es el subtipo mas agresivo del cáncer de pulmón. Mas de la mitad de los pacientes se diagnostican con enfermedad diseminada, donde el tratamiento de elección desde la década de ...
Piquer García, Irene (Date of defense: 2020-01-22)
L’obesitat és una patologia crònica que en les darreres dècades s’ha incrementat de manera alarmant al món especialment en els països mes desenvolupats. Malgrat que la dieta i l’exercici físic són dos agents primordials ...
Turon Rodrigo, Marta (Date of defense: 2020-01-17)
The symbiotic lifestyle represents a fundamental contribution to the diversity of marine ecosystems. Sponges are ideal models to study symbiotic relationships from evolutionary and ecological points of view since they are ...
Pedraz López, Lucas (Date of defense: 2020-01-13)
The perpetuation of life depends on the ability to reproduce. All known forms of life use DNA as genetic information storage. Ribonucleotide reduction is the process by which ribonucleotides (NTPs) are transformed into ...