Norris, Richard (Date of defense: 2021-10-13)
Insulinomas are extremely rare pancreatic neuroendocrine (PNET) tumours that develop from the β-cells of the pancreas.β-cells are the only cells capable of producing the hormine insulin, and play a major ...
Calucho Prim, Maite (Date of defense: 2021-11-24)
La Fibrosis Quística (FQ) es una enfermedad autosómica recesiva que ocurre cuando existen variantes patogénicas bialélicas en el gen Cystic Fibrosis Transembrane Regulator (CFTR), y que codifica por una ...
Gracia Latorre, Elena (Date of defense: 2023-06-01)
[eng] Enhancers are the master regulators of gene expression. Genes rely on them to be differentially expressed in different tissues, developmental time points or contexts. In recent years, it has been ...
Magallón Lorenz, Miriam (Date of defense: 2023-07-07)
[eng] Malignant peripheral nerve sheath tumors (MPNSTs) are rare soft-tissues sarcomas of the peripheral nervous system (PNS) with poor prognosis and lack of therapeutic options. Complete resection with ...
Rojas Salarich, Itziar de (Date of defense: 2023-07-05)
[eng] Alzheimer’s disease (AD) is the leading cause of dementia worldwide. Research in the past decade has led to major progress in understanding the genetic etiology of the disease; since I started my ...
Bujosa Rodriguez, Paula (Date of defense: 2023-09-27)
[eng] Linker histones are essential proteins involved in higher-order chromatin structures and architectural functions. However, their roles extend beyond structure, encompassing various chromatin ...
Canet Hermida, Julia (Date of defense: 2023-09-14)
[spa] Tanto las variantes patogénicas como las epimutaciones constitucionales en los genes del sistema de reparación de errores de apareamiento (mismatch repair, MMR), MLH1, MSH2, MSH6 y PMS2, son ...
Merenciano, Miriam (Date of defense: 2020-03-06)
Understanding how organisms adapt to their environment remains an open question in Biology. So far, most projects focus on the study of single nucleotide polymorphism variants, while other types of ...
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 ...
Rodríguez Muñoz, Laura (Date of defense: 2021-05-13)
The HMG-box protein Capicua (Cic) is a conserved transcriptional repressor with key functions downstream of receptor tyrosine kinase (RTK)-Ras-MAPK signaling pathways. In both Drosophila and mammals, ...