Universitat Pompeu Fabra
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En aquest treball es presenta l'evolució molecular i estudi funcional de gens localitzats a les duplicacions segmentàries de la regió 7q11.23, implicada en la Síndrome de Williams-Beuren (SWB). S'ha datat l'aparició ...
El objetivo es analizar la evolución de las desigualdades socioeconómicas en mortalidad en los barrios de Barcelona, considerando los cambios poblacionales ocurridos. Se realizaron 3 estudios. Una revisión del uso del ...
La duplicació és el principal mecanisme de formació de nou material genètic i d'innovació funcional. Entendre com les duplicacions sorgeixen, evolucionen, co-evolucionen i engendren noves funcions és essencial. Aquesta ...
Acute lymphoblastic leukemia (ALL) is a blood cancer characterized by a high proliferation and maturation arrest of the lymphoid precursors which can either be from B or T-cell lineage. In adult patients, this type of ...
La identificación de elementos funcionales en el genoma no-codificante continúa siendo una tarea desafiante. La genómica comparativa puede ayudarnos a entender como estos elementos han evolucionado y cuáles son sus ...
The evolution of transcriptomes has been linked to the emergence of novel phenotypes. However, our knowledge on how isoform diversity has impacted recent human evolution is very limited. To fill this gap, we have performed ...
Regulated Gene Expression (rGE) and Alternative Splicing (rAS) are two of the main mechanisms contributing to tissue-phenotypic diversity within and between species. In this thesis, we aim at characterizing rGE and rAS ...
Human genomes have been found to harbor an unexpected number of ~100 loss-of-function (LoF) variants, with ~20 of them in an homozygous state, in most cases without a visible effect despite its potential truncation of ...
All living organisms respond to environmental stimuli by modulating the activity of different genes. This response can occur across many locations throughout the cell such as at the level of transcription, translation, and ...
The evolutionary history of H. neanderthalensis, interwoven with that of H. sapiens, has always fascinated the scientific world. Recent adavncess in paleogenetics shedds new light on the phylogenetic relationship between ...
Una de les forces selectives més fortes que han afectat a les poblacions humanes en la història més recent és el paràsit de la malària: Plasmodium falciparum, que és la causa de varis exemples d'adaptació induïda per ...
DNA methylation is a crucial epigenetic modification involved in numerous biological processes. However, despite its functional importance, the evolutionary history of this modification and the mechanisms diving such changes ...
Changes in the epigenetic regulation of gene expression have important implications for evolution. However, the study of these changes (i) has not been consistently assessed across closely related species, (ii) oftentimes ...
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 regarding human evolution. ...
The present thesis is a collection of three separate essays, each corresponding to a chapter.Each essay represents an application of structural dynamic analysis within TVC-VARmodels. In the first chapter, coauthored with ...
This thesis consists of three articles that study qualitatively investment in natural gas infrastructure with emphasis on regulatory governance, regulatory and energy policies and governability using different research ...
El trabajo realizado pretende profundizar en la configuración jurídica de la exención tributaria en el ámbito de los impuestos locales. Para ello se estructura en dos grandes partes, diferentes pero íntimamente relacionadas.En ...
Els pacients amb malaltia respiratòria crònica (MPOC) presenten manifestacions sistèmiques com disfunció muscular i alteracions nutricionals. Aquests tenen impacte en la qualitat de vida i la mortalitat. La seva rellevància ...
Retinopathies are a heterogeneous group of conditions that inevitably lead to vision incapacitation and blindness. Currently, they are incurable. Cell therapy has been proposed as a potential solution, but further development ...
The highly conserved exonuclease Xrn1 plays a dual role in gene expression by degrading cellular mRNAs and promoting their transcription initiation and elongation. In this thesis we uncover an unanticipated role of Xrn1 ...
