Browsing Facultat de Biologia by Title

Now showing items 231-234 of 234

Unveiling the role of Slc7a7 in hematopoiesis

Giroud-Gernetant Deus, Judith (Date of defense: 2023-11-20)

[eng] Lysinuric Protein Intolerance (LPI) is a rare autosomal recessive disorder caused by mutations in the SLC7A7 gene, which encodes the y+LAT1 transporter. LPI presents a pleiotropic phenotype that varies among patients, ...

Uso de líneas celulares como modelos in vitro para la evaluación de toxicidad y mecanismos de acción de contaminantes ambientales

Pérez Albaladejo, Elisabet (Date of defense: 2017-09-18)

En esta tesis se investiga la utilidad de diferentes bioensayos basados en el uso de líneas celulares (peces/humanas) y fracciones subcelulares, para la caracterización del riesgo ambiental que diversos contaminantes ...

Variability in domain-scale regional mutation density across tissues and individuals

Salvadores Ferreiro, Marina (Date of defense: 2024-01-18)

[eng] Mutations exhibit an uneven distribution across the human genome, with a regional mutation density (RMD) influenced by chromatin landscapes and replication timing. While there is a good understanding of this variation, ...

β-cells cis-regulatory networks and type 1 diabetes

Ramos Rodríguez, Mireia (Date of defense: 2020-11-06)

Type 1 Diabetes (T1D) is a celltargeted autoimmune disease, leading to a reduction in pancreatic cell mass that renders patients insulindependent for life. In early stages of the disease, cells from the immune system ...