Caracterización de polimorfismos genéticos implicados con el metabolismo de la citarabina y asociación con la respuesta y toxicidad a la quimioterapia en pacientes con leucemia mieloide aguda de riesgo intermedio 

    Díaz Santa, Johana Alejandra (Date of defense: 2022-12-16)

    Acute myeloid leukemia (AML) is adults' most common acute leukemia. Prognostic factors influencing treatment response and patient survival are diverse, the most relevant being those associated with specific cytogenetic and ...

    Clinical epidemiology and molecular biology of cutaneous and mucosal melanoma in Girona 1994-2018 

    Carbó Bagué, Anna (Date of defense: 2023-03-27)

    In this doctoral thesis, the epidemiology of cutaneous and mucosal melanoma is analyzed, as well as its molecular profile to provide new knowledge on a population basis in the province of Girona. The cancer registry of ...

    Creixement recuperador postnatal secundari a restricció de pes prenatal en rates Wistar: canvis moleculars en l'expressió dels gens STK11, DLK1 i SIRT1 en els teixits adipós, hepàtic muscular i placentari 

    Carreras Badosa, Gemma (Date of defense: 2015-12-22)

    Both the prenatal and postnatal environment have a profound impact on the risk for adult diseases. A model of catch-up growth following fetal growth restriction was set in Wistar rats to study changes in the gene expression ...

    Els factors GATA4 i GATA5 en la regulació transcripcional del gen que codifica pel canal de sodi cardíac (SCN5A) 

    Tarradas Pou, Anna (Date of defense: 2017-03-14)

    The SCN5A gene encodes the alpha subunit of the cardiac sodium channel (NaV1.5), which is responsible for the influx of sodium ions through membrane of cardiomyocytes. Different evidences suggest that an aberrant expression ...

    Estudi de l’alliberació del calci intracel·lular en cardiomiòcits derivats de iPSC de pacients amb taquicàrdia ventricular polimòrfica catecolaminèrgica (CPVT) 

    Carreras Gorgals, David (Date of defense: 2023-05-30)

    In a small region of the island of Gran Canaria, 11 cases of sudden cardiac death (SCD) were registered in emotional or physical stress situations in young individuals between 1994 and 2007 in four seemingly unrelated ...

    Estudio de la regulación génica en el locus SCN5A-SCN10A y su implicación en la etiología del Síndrome de Brugada 

    Pérez Agustín, Adrián (Date of defense: 2023-03-28)

    Brugada syndrome (SBr) is a cardiac electrical disease associated with a high susceptibility to ventricular arrhythmias and sudden cardiac death. Genetic variants in the coding regions of the SCN5A gene, which encodes for ...

    Estudio del impacto de UGT2B17 y PD-1 en el trasplante alogénico de progenitores hematopoyéticos a partir de donante emparentado HLA idéntico 

    Santos Carvajal, Nazly (Date of defense: 2022-11-25)

    Study of the impact of UGT2B17 and PD-1 on allogeneic transplantation of hematopoietic progenitors (allo-TPH) from HLA-identical related donor. everal genetic factors can favor the development of graft-versus-host disease ...

    Identificación de genes de susceptibilidad en esclerosis múltiple. Descripción clínica y análisis genético de una extensa familia de etnia gitana (Estudio EMGypsy) 

    Robles Cedeño, René (Date of defense: 2016-07-19)

    Multiple sclerosis is a chronic disease of the central nervous system which has an unknown aetiology and an autoimmune mechanism. Two pathogenic processes, inflammation and neurodegeneration, converge causing a progressive ...

    Methylome profiling of B and T cells along multiple sclerosis disease progression: a pilot study 

    Celarain Sanz, Naiara (Date of defense: 2023-06-26)

    Multiple sclerosis (MS) is a chronic, inflammatory, autoimmune and neurodegenerative disease characterized by the infiltration of autoreactive immune cells into the central nervous system that leads to axonal damage, ...

    Molecular insights on arrhythmogenic cardiomyopathy: assessment of premature termination codons in desmosomal genes and variants reclassification 

    Vallverdú Prats, Marta (Date of defense: 2023-02-03)

    Arrhythmogenic cardiomyopathy (ACM) is an entity that groups different clinical forms of hereditable cardiac diseases that are associated to ventricular arrhythmia and sudden cardiac death. The main cases are characterized ...

    Muerte súbita natural inexplicada: valor de la investigación genética post mortem 

    Sánchez-Molero Núñez, Olallo-Efrén (Date of defense: 2017-12-15)

    Natural death defines the death primarily attributed to an illness or an internal malfunction of the body, and not directly influenced by external forces. Most causes can be identified directly with macroscopic forensic ...

    Nuevos determinantes moleculares en la respuesta a isquemia cerebral 

    Gubern Mérida, M. Carme (Date of defense: 2015-12-18)

    Cerebral ischaemia is a potent inducer of gene expression, however, little is known about the mechanisms that regulate this expression. Studies of gene expression and the study of the mechanisms regulating this expression ...

    Paper de la placofilina-2 en la miocardiopatia aritmogènica de ventricle dret: bases genètiques i mecanismes moleculars 

    Alcalde Masegu, Mireia (Date of defense: 2016-01-20)

    La mort sobtada cardíaca (MSC) es defineix com una mort natural, repentina i d’origen cardíac que succeeix durant la primera hora des de l’inici dels símptomes fins el seu desenllaç final. La MSC és la manifestació més ...

    Regulome-seq: a novel approach for the identification of non-coding variants associated with human disease. Assessment of its applicability in 89 Brugada syndrome individuals 

    Pinsach Abuin, Mel·lina (Date of defense: 2019-01-30)

    Brugada syndrome (BrS) is a cardiac electrical disease with high susceptibility to sudden cardiac death. Approximately 25-30% of BrS patients are explained by pathogenic variants in coding sequences of cardiac ion channels, ...

    Reinterpretació de les variants genètiques identificades en una unitat especialitzada en cardiopaties familiars 

    Fernandez Falgueras, Anna (Date of defense: 2022-12-13)

    Sudden cardiac death (SCD) is defined as a natural and unexpected death due to cardiac etiology. In addition, when the cause of death remains unexplained after a complete autopsy, a cardiac arrhythmia is suspected as a ...

    Relevance of the epigenetic regulation exercised by hepatic microRNAs in the fatty liver arena: from the bedside to the bench 

    Latorre Luque, Jèssica (Date of defense: 2020-03-04)

    Non-alcoholic fatty liver disease (NAFLD) has become the leading cause of chronic liver disease worldwide, involving a spectrum of disturbances mainly characterized by fatty acid infiltration and fat deposition in the liver ...

    Role of miRNAs in multiple sclerosis: study of miRNAs in cerebrospinal fluid for different clinical conditions 

    Muñoz San Martín, María (Date of defense: 2021-09-15)

    Multiple sclerosis (MS) is considered a chronic inflammatory and neurodegenerative disease, characterized by the existence of demyelinated areas in the central nervous system, infiltration of inflammatory cells in the ...