Universitat Pompeu Fabra
Now showing items 1369-1388 of 3227
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 ...
Mechanisms underlying congenital malformations are largely unknown despite its high incidence, affecting 2-3% of liveborn infants. A broader knowledge about the causes of birth defects would provide valuable information ...
La família B7 de proteïnes és àmpliament reconeguda per jugar un paper important en els processos inflamatoris mitjançant l'alteració de la capacitat de resposta de les cèl•lules T. La unió d’aquestes proteïnes als seus ...
This PhD thesis explores the potential embedded in living organisms, understood as highly complex machines which can sense, compute, and react to changes in their surroundings. From this general idea, we have made use of ...
Wild chimpanzee populations are considered to be under threat of extinction due to the damaging consequences of human impact into their natural habitat and illegal trade. Conservation genomics is an emerging field that has ...
The genetic basis of phenotypes that have contributed to the adaptation of species and organisms to new environments is a central question in evolutionary genetics. The recent accumulation of genetic variability data has ...
This project was set out to broaden our knowledge of the processes driving the emergence of antifungal drug resistance in an opportunistic yeast pathogen Candida glabrata. More precisely, we sought to find the mutational ...
Seven linker histone H1 variants exist in human somatic cells with distinct prevalence among cell types and during differentiation. Despite being key chromatin structural components, it remains elusive how they participate ...
