Universitat Pompeu Fabra
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Tumor progression is dominated by two evolutionary forces: first mutagenesis, which provides the heritable variability where, secondly, natural selection acts. The main challenge of cancer genomics is ...
Somatic mutations are an inevitable component of ageing and the most important cause of cancer. The rates and types of somatic mutation vary across individuals, but relatively few inherited influences ...
The evolution of the human phenotype involved gene regulatory innovations. Comparative functional epigenomic studies are a powerful tool with potential to shed light on many long-standing questions ...
La mutació és un procés essencial per l’evolució, tot i que també té un rol important tant en el càncer com en altres malalties. Les mutacions no s’acumulen uniformement al llarg del genoma i la seva ...
La fibrosis quística (fq) es la enfermedad autosómica recesiva más frecuente en la población caucasoide con una frecuencia de portadores de 1/25. Las manifestaciones clínicas más importantes son las ...
Male premutation carriers (PM) presenting between 55-200 CGG repeats in the Fragile X-associated (FMR1) gene are at risk to develop Fragile X Tremor/Ataxia Syndrome (FXTAS), and females to undergo ...
This thesis focuses on Human herpesvirus 4 and 6, two ubiquitous viruses with a long list of putative disease associations, ranging from malignancies such as lymphomas and carcinomas to multiple sclerosis. ...
The control of proper progression of eukaryotic cell cycle is essential if cells want to continue proliferating appropriately, and it is a conserve feature from yeast to human cells. One of the most ...
Les regions duplicades del genoma, com ara les duplicacions de segments (SDs), són una característica comuna dels genomes eucariotes i han estat associades a canvis fenotípics. Donada la seva rellevància ...
Imaging Genetics (IG) aims to test how genetic information influences brain structure and function, cognitive processes and complex neurodevelopmental domains, combining magnetic resonance imaging-based ...
