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 ...
Di Giovanni, Francesca (Date of defense: 2016-11-24)
Chromatin is not randomly organized inside the eukaryotic nucleus in interphase. In budding yeast gene expression of some specific loci is affected by their positioning in the nucleus. Replication ...
Burga Ramos, Alejandro Raúl (Date of defense: 2012-07-20)
Genetically identical cells and organisms growing in homogenous environmental conditions can show significant phenotypic variation. Furthermore, mutations often have consequences that vary among individuals ...
Palacios Verdú, María Gabriela (Date of defense: 2015-10-19)
Williams-Beuren syndrome is a neurocognitive disorder with multisystemic manifestations of variable expressivity caused by a 1.55-1.83 Mb at chromosomal band 7q11.23. In this thesis project we have ...
Gelabert Xirinachs, Pere (Date of defense: 2018-12-14)
La malària és una malaltia infecciosa causada per diverses espècies de protozous del gènere Plasmodium, capaces d’infectar eritròcits humans. La malària és probablement la patologia infecciosa que ha ...
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 ...