Acquisition and maintenance of transient imprinted DMRs in the human placenta and their role in development 

    Sanchez Delgado, Marta (Date of defense: 2018-05-31)

    Genomic imprinting is an epigenetic phenomenon resulting in the monoallelic expression of a subset of genes in a parent-of-origin-specific manner. In general, the promoters of these transcripts contain differentially ...

    Caracterització del cicle de vida dels retrotransposons telomèrics HeT-A i TART de Drosophila melanogaster 

    López Panadès, Elisenda (Date of defense: 2014-12-12)

    Els telòmers són estructures dels extrems dels cromosomes linials d’organismes eucariotes. La longitud telomèrica es manté mitjançant l’enzim telomerasa en la majoria d’eucariotes, on s’hi troba altament conservat. Drosophila, ...

    Decoding the genetic landscape of pediatric and young adult germinal center-derived B-cell non-Hodgkin lymphoma 

    Ramis Zaldívar, Juan Enrique (Date of defense: 2021-06-29)

    B-cell non-Hodgkin lymphoma (B-NHL) of pediatric and young adult population is a diverse group of neoplasms predominantly composed of aggressive B-cell lymphomas from the germinal center (GC). Molecular characterization ...

    Dissecting genetic regulatory mechanisms in human pancreatic islets to gain insights into type 2 diabetes pathophysiology 

    Atla, Goutham (Date of defense: 2021-05-05)

    Diabetes mellitus is a heterogeneous group of metabolic diseases characterized by impaired blood glucose homeostasis that affects more than 415 million people worldwide and is a leading cause of mortality. The most prevalent ...

    Dissecting genetic regulatory mechanisms in human pancreatic islets to gain insights into type 2 diabetes pathophysiology 

    Atla, Goutham (Date of defense: 2021-05-05)

    [eng] Diabetes mellitus is a heterogeneous group of metabolic diseases characterized by impaired blood glucose homeostasis that affects more than 415 million people worldwide and is a leading cause of mortality. The most ...

    Epigenetic Mechanisms in two primary immunodeficiencies: Hyper-IgM Syndrome and Common Variable Immunodeficiency 

    Rodríguez Cortez, Virginia Carolina (Date of defense: 2015-02-06)

    The proper function of the immune system requires complex regulatory mechanisms and a highly strict balance in the amount and function of immune and non-immune elements. Part of the primary immunodeficiencies result from ...

    Epigenomic Dynamics Associated with Myeloid Cell Immune Response Remodeling 

    Morante Palacios, Octavio (Date of defense: 2022-06-02)

    [eng] Monocytes are highly plastic cells and possess the ability to differentiate into cell types with very different immunological properties. Depending on the external stimuli and the specific immune context, they can ...

    Genetic disruption of transfer RNA modifications in human cancer 

    Coll San Martín, Laia (Date of defense: 2021-11-29)

    Cancer was reported as the second leading cause of death in 2018 by the World Health Organisation. Cancer is defined as the set of diseases that proceeds in multiple phases generating a transformation lead by an accumulation ...

    Identification of new candidate genes for germline predisposition to familial colorectal cancer using somatic mutational profiling 

    Díaz Gay, Marcos (Date of defense: 2019-11-25)

    Colorectal cancer (CRC) is one of the malignant neoplasms with higher incidence and mortality in Spain, Europe and worldwide. As a complex disease, both environmental and genetic factors influence CRC predisposition. Up ...

    Mecanismes moleculars i efecte terapèutic antiangiogènic del pèptid R3(178-210) en un model ortotòptic de càncer de mama 

    Solé Sánchez, Sònia (Date of defense: 2015-11-17)

    La via de Calcineurina (Cn)- Factor Nuclear de Cèl·lules T Activades (NFAT) ha estat descrita clàssicament com a via de senyalització essencial en el funcionament de les cèl·lules T del sistema immunològic i amb els NFATc ...

    New genes and pathways implicated in Rett syndrome: considerations and future applications 

    Lucariello, Mario (Date of defense: 2017-03-16)

    STUDY I HYPOTHESIS Genetic alterations have already been recognized as major etiological factors for ASD and ID, of which RTT is an example. In addition to the contribution of polymorphic variants that confer low or ...

    Regulació de l'heterocromatina constitutiva en condicions normals i d'estrès: Paper de SirT1 i d'HP1 

    Raurell Vila, Helena (Date of defense: 2014-07-18)

    La sirtuïna 1 (SirT1), una desacetilasa depenent de NAD, promou la formació de l’heterocromatina facultativa (HF) desacetilant H4K16Ac, H3K9Ac i H1K26Ac i establint marcadors d’heterocromatina via interacció amb la histona ...