Universitat Pompeu Fabra
Now showing items 1580-1599 of 3208
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 Premature Ovarian Failure ...
Cytoplasmic polyadenylation is a widespread mechanism to control mRNA translation. In vertebrates, this mechanism requires two sequence elements in the 3’ UTR of substrate mRNAs, the U-rich Cytoplasmic Polyadenylation ...
Although the genome sequencing revolution is still in its infancy, we must acknowledge it as the major driver of biology since the beginning of the 21st century. The availability of a large collection of complete mammalian ...
Africa is the origin source of modern humans. Despite that African populations harbor the highest levels of genetic diversity worldwide, they remain underrepresented in genetic studies. Therefore, in order to fully understand ...
Àfrica és l'origen de totes les poblacions humanes actuals, i malgrat contenir els nivells més elevats de diversitat genètica, la seva història demogràfica ha estat relativament poc estudiada, amb moltes preguntes rellevants ...
La tesis toma como objeto de estudio los procesos de surgimiento, configuración y desarrollo de los sistemas autonómicos de función pública, a partir de la aparente paradoja sobre su tendencia a converger más allá de las ...
L’objecte de la tesis és analitzar, des d’una perspectiva interdisciplinar i transversal, els instruments de compensació del dany derivat d’accident de treball o malaltia professional: prestacions de la Seguretat Social, ...
Esta tesis explora el problema de la integración de procesos, dentro de la logística y también con otras áreas de la empresa, desde el punto de vista de la planificación estratégica.<br/>El primer estudio, explora tres ...
This thesis uses quantitative and qualitative analyses to explore the integration of Chinese minorities living in Spain – especially, of the second generation born or educated in the country – and the problems of discrimination. ...
HNF1A encodes a key transcription factor in insulin-secreting beta cells from pancreatic islets. Heterozygous mutations in HNF1A cause monogenic diabetes, and hypomorphic variants in HNF1A increase the risk for type 2 ...
The reactivation of the inactive X chromosome has the potential to provide a unique system to study the developmentally induced formation of euchromatin. However, insights into this process were hampered by the lack of ...
Despite some great success, many human diseases cannot be effectively treated, prevented or cured, yet. Moreover, prescribed drugs are often not very efficient and cause undesired side effects. Hence, there is a need to ...
High-grade serous carcinoma (HGSC) is the most common and deadly subtype of ovarian cancer. It is characterised by presenting defects in the homologous recombination repair, most frequently associated to BRCA1 mutations. ...
Over the last several decades, the emerging ‘integrated’ view of the cell has triumphed over the ‘one gene/one protein/one function’ paradigm. This is illustrated by the biologically opposite effects of key regulatory ...
El càncer ha estat tradicionalment considerat una malaltia fonamentalment genètica, però recentment s'està fent palès que la desregulació de mecanismes epigenètics contribueix en gran manera al desenvolupament tumoral. ...
One of the major challenges of biology is to understand how entire cells or organisms behave in homeostasis and in response to perturbations. Whole-cell modeling promotes this understanding by integrating different cellular ...
For unknown reasons, genetically identical animals often differ substantially in their phenotypic traits, even in a controlled environment. Here I investigate the causes of inter-individual physiological variation using a ...
Gràcies als amplis esforços d'investigació, la nostra comprensió dels mecanismes fisiològics de l'envelliment ha progressat enormement. Recentment, les tecnologies òmiques han permès l'estudi a tot el genoma dels canvis ...
La 3,4-metilendioximetamfetamina (MDMA, èxtasi) és una droga de síntesi que es consumeix entre els joves de forma recreativa. S'ha postulat que la 3,4-dihidroximetamfetamina (HHMA), metabòlit que es forma a partir de ...
Storytelling is one of the oldest models of cultural expression in human history. Thanks to the evolution of information technologies, the Web 2.0 paradigm has impacted in this field: some modern audiences actively participate ...
