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, ...
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 ...
Segura Martinez, Joana (Date of defense: 2020-11-02)
El empaquetamiento del ADN en fibras de cromatina implica una gran cantidad de deformaciones geométricas de la doble hélice (enrollamiento y superenrollamiento del ADN) y la formación de una jerarquía ...
Mazuelas Gallego, Helena (Date of defense: 2021-01-28)
Neurofibromatosis type 1 (NF1) is a genetic disease caused by inherited mutations in the NF1 gene. NF1 is a cancer predisposition syndrome, and the disease’s hallmark is the appearance of tumors of the ...
Delgado Serrano, Luisa Fernanda (Date of defense: 2021-12-02)
Human cancer arises as a result of genomic alterations that transform cells and make them to grow without control and to pathological levels. The characterization of such genomic changes has enabled ...
Valls Margarit, Jordi (Date of defense: 2021-06-08)
One of the central aims of biology and biomedicine has been the characterisation and understanding of genetic variation across humans, to answer important evolutionary questions and to explain phenotypic ...
Maher, Michael (Date of defense: 2021-05-07)
The role of fatty acids to overcome stress and contribute to disease progression is becoming increasingly evident in haematological diseases. Further, epigenetic factors play an important role in the ...