Universitat Pompeu Fabra
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Behind every good advertisement there is a creative concept, a Big Idea. In contrast to the countless number of ads, a small number of patterns of effective communication (idea templates) have been uncovered, which are ...
Our current knowledge about the function of human genes is mostly based on data from genetic studies using animal models. However, divergence among species may hamper the understanding of genetic mechanisms underlying ...
Parkinson’s disease (PD) is an incurable, chronically progressive neurodegenerative disease leading to premature invalidity and death. The locomotor disability of PD patients is mainly rooted in the gradual and insidious ...
Es considera que la cognició biològica fa servir mecanismes com la predicció, l'anticipació i l'atenció per resoldre tasques complexes. S'ha suggerit que aquests mecanismes es materialitzen en els mamífers a través ...
La presente tesis, titulada “Genes, peoples and languages in Central Africa”, examina los patrones de diversidad genética en poblaciones del oeste de Africa central, más específicamente, poblaciones Bantús y Pigmeas de ...
As a result of local selective pressures, genetic adaptation leaves distinct recognisable marks in the genomes of human populations. Several cases of positive natural selection have been described in humans, but only in a ...
In this thesis we have addressed three different although related topics. First, we studied the post-mortem mutation damage rate of contaminated DNA sequences in ancient human remains focusing on the development of strategies ...
L'asma és una malaltia d'etiologia complexa, formada per factors genètics i ambientals, on la interrelació de ambdós factors mitjançant interaccions gen-ambient juga un paper clau. L'objectiu d'aquesta tesi ha sigut ...
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 important points of ...
Tot i que l’obesitat és clarament deguda a un desequilibri entre la ingesta d’energia i la despesa, i està molt associada a l’estil de vida, es considera una malaltia multifactorial amb una alta heretabilitat (50-75%), ...
The aetiology of common diseases is shaped by the effects of genetic and environmental factors. Big efforts have been devoted to unravel the genetic basis of disease with the hope that it will help to develop new therapeutic ...
Major depression (MD) is the leading cause of impairment worldwide. The lack of understanding of its biological underpinnings hampers the development of better diagnostic tools and treatments. Thanks to the advances in ...
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. To date, the ...
El treball presentat en aquesta tesi és un estudi de la diversitat genètica en un conjunt de gens implicats en funcions neurològiques ("Gens cerebrals"). Hom ha examinat vint-i-dos gens implicats en els sistemes de ...
The main expansion of the discovery of genetic variants associated with complex diseases has occurred during the last decade. This expansion has been accompanied, and in some sense motivated, by the desire to use this ...
Els nostres parents més propers, els ximpanzés i els bonobos, tenen una història demogràfica complexa. En aquest estudi, hem analitzat els genomes sencers de 75 ximpanzés i bonobos nascuts en 10 països diferents d'Àfrica. ...
North African populations show a complex genetic structure characterized by the admixture of at least four different components: Middle Eastern, sub-Saharan, European and autochthonous North African. However, there are few ...
The etiology of Autism Spectrum Disorders (ASD) remains unknown for most of the cases, in spite of its strong genetic component. A greater knowledge of its genetic basis would result in many benefits, including specific ...
Els microRNAs són importants reguladors de gens i destacats contribuïdors a la diversitat fenotípica clarament involucrats en malaltia humana. Hem analitzat la variabilitat genètica en microRNAs i como aquesta variabilitat ...
En el gen de la proteïna priònica, o PRNP, hem observat que el particular patró de variació que hem trobat basant-nos en dades de seqüenciació en humans es deu a selecció positiva, i que el mètode utilitzat per detectar ...
