Batlle Masó, Laura (Date of defense: 2021-03-02)
Des de l’aparició de les eines de seqüenciació genòmica, el genoma humà s’ha explorat per a trobar variants causants de malaltia. Les malalties són diverses, i conseqüentment, també ho són les seves ...
García Fernández, Carla (Date of defense: 2021-12-16)
Europe is a rich combination of diversities, cultures, and populations. Roma is the largest ethnic minority of Europe, accounting for an estimated >10 million citizens, although no official census is ...
Heredia Genestar, José María (Date of defense: 2020-01-28)
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 ...
Domingo Espinós, Júlia (Date of defense: 2020-02-21)
The first aim of this thesis was to tackle a core question in biology—to understand how large numbers of mutations combine together to influence phenotypes. In order to do so, we built a combinatorial ...
Lucas-Sánchez, Marcel (Date of defense: 2023-09-18)
Since the origins of humankind, North Africa has been involved in many demographic events, leading to a heterogeneous cultural and genetic landscape. However, it is largely underrepresented in genetic ...
Aya Moreno, Francisco (Date of defense: 2023-02-15)
Alternative splicing of BRAF mRNA can provide a resistance mechanism to BRAF and MEK inhibitors that has been described mostly in BRAF-mutant melanoma. The mechanisms underlying the production of a ...
Baeza Centurión, Pablo (Date of defense: 2020-02-27)
Alternative pre-mRNA splicing is a regulated step in eukaryotic gene expression in which introns are removed from the transcript and exons are joined together to form a mature mRNA. To study the effects ...
Castro Arnau, Júlia (Date of defense: 2023-10-23)
The molecular mechanisms regulating sperm differentiation (spermiogenesis) and maturation in fishes are largely unknown. In these oviparous species, the initiation of sperm motility is triggered by the ...
Frigola Rissech, Joan (Date of defense: 2020-03-13)
The rate at which mutations accumulate along the genome is not uniform but influenced by factors such as chromatin compactness, replication time or transcription. Most of these factors create mutational ...
Le Pannérer, Marguerite-Marie (Date of defense: 2022-01-21)
The relevance of epigenetics is increasingly recognized in haematopoietic diseases such as myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML). Variants of histones, such as macroH2As, and ...