Escribá Piera, Rubén (Date of defense: 2022-03-17)
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease and a frequent cause of heart failure and sudden cardiac death. HCM is a highly complex condition defined by clinical and ...
Bonilla-Pons, Sergi A. (Date of defense: 2021-04-30)
Visual impairments and different retinopathies have been silently increasing in the modern society and they become a medical hurdle in need to be addressed. Müller glial cells (MGCs), in lower vertebrates, ...
González Acosta, María Isabel (Date of defense: 2019-12-13)
La función principal del sistema de reparación de apareamientos erróneos (MisMatch Repair, MMR) es corregir los errores principalmente introducidos por las DNA polimerasas durante la replicación del ...
Puiggros Metje, Anna M. (Date of defense: 2015-07-10)
Un dels factors pronòstics més importants en la leucèmia limfàtica crònica (LLC) són les categories de risc citogenètic, basades en la detecció de del(13q), trisomia 12, del(11q) i del(17p) per hibridació ...
Corujo Garcia, David (Date of defense: 2019-12-10)
In the eukaryotic cell nucleus, DNA is tightly wrapped around histone complexes, forming a dynamic structure known as chromatin. The nucleosome particle is the basic repeating unit of the chromatin fiber ...
Bonàs Guarch, Sílvia (Date of defense: 2017-01-13)
The major landmark in modern genomic and biological research has been the first survey of the entire human genome. On June 2000 the staging of Bill Clinton along with Craig Venter and Francis Collins ...
Bellido Molías, Fernando (Date of defense: 2015-07-17)
La presente tesis doctoral consta de 4 proyectos independientes centrados en el estudio de las causas genéticas del cáncer colorrectal (CCR) hereditario: A) Estudio de una variante común (rs2075786) ...
Catasús Segura, Núria (Date of defense: 2022-05-31)
Neurofibromatosis type 2 (NF2) is an autosomal dominant condition caused by loss of function variants in the NF2 gene. The pathognomonic feature of the disease is the development of bilateral vestibular ...
González Nieto, Jèssica (Date of defense: 2021-03-23)
La cromatina és una estructura nucleoproteïca dinàmica i jeràrquicament organitzada dins del nucli cel·lular. Segons la seva funcionalitat, la cromatina es pot classificar en dos tipus de regions: ...
Moles Fernández, Alejandro (Date of defense: 2022-01-31)
Patients with hereditary breast and ovarian cancer (HBOC) in whom a causative pathogenic variant is not identified after genetic analysis may not benefit from prevention, early detection, or precision ...