Departament de Genètica, Microbiologia i Estadística: Enviaments recents
Ara mostrant els elements 41-60 de 126
La funció de CERKL a la retina: generació d’un model de ratolí i anàlisi de la seva implicació en la resposta a estrès oxidatiu
CERKL és un gen causant de Retinosi Pigmentària, una malaltia genètica de caràcter mendelià, malaltia caracteritzada per la mort dels fotoreceptors i que, amb el pas del temps, desemboca en ceguera. Malgrat els esforços ...
iPSCs, CRISPR/Cas9 y protocolos de diferenciación basados en factores de transcripción para generar nuevos modelos neuronales y astrocíticos del síndrome de Sanfilippo
El objetivo general de esta tesis doctoral ha sido la generación de nuevos modelos celulares para el síndrome de Sanfilippo y su utilización para ensayar una aproximación terapéutica para esta enfermedad basada en el uso ...
Detección y caracterización de virus emergentes en su ciclo ambiental
Besides classic enteric viruses such hepatitis A virus and norovirus, there are other viruses that can reach water sources without being part of their transmission route. Some of these pathogens are enveloped viruses, which ...
Statistical methods for intake prediction and biological significance analysis in nutrimetabolomic studies
This thesis is the product of three and a half years working on the complex world of metabolomics and nutrition. All the work presented here is focussed on the problems arising from associating and integrating ...
Pleiotropic effects of candidate genes on autism spectrum disorder and comorbidities: genetics, funcional studies and animal models
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social communication and interaction, as well as repetitive and restricted patterns of behaviour. Although growing evidence ...
Desarrollo de métodos rápidos para la detección de bacteriófagos como indicadores de contaminación fecal
El control de la transmisión de patógenos víricos a través de la ruta fecal-oral ha adquirido recientemente relevancia e interés público. Para mantener este control, es necesario determinar indicadores apropiados para la ...
Duplicaciones génicas y virulencia en Escherichia coli
The pathogenic strains of Escherichia coli can be divided into two large groups: those that cause intestinal infections and those that cause extra- intestinal infections. The strains that belong to the first group are ...
Genetics and epigenetics of attention-deficit/hyperactivity disorder and comorbid conditions
The broad objectives of this work are the identification of genes that contribute to the susceptibility to attention-deficit/hyperactivity disorder (ADHD) and cocaine dependence, two disorders that co-occur in patients. ...
Development and validation of a sequencing panel for translocations, copy number alterations and mutations with clinical relevance in mature B-cell neoplasms
The application of NGS techniques to the study of mature B-cell neoplasms at the research level is providing a large amount of new information, in certain cases with clinical implications, which includes the identification ...
Role of Wnt pathway genes in complex and monogenic phenotypes of low and high bone mass
Osteoporosis is a complex disease characterized by low bone mass, microarchitectural deterioration, and increased fracture risk. It is the most common bone disease that affects more than 200 million people worldwide and ...
The evolutionary history of shearwaters: genomic analyses to resolve a radiation of pelagic seabrids
How populations differentiate and become new species is a foundational question to the field of evolutionary biology and has important implications for the generation of both local and global patterns of species-level ...
Bioreduction of iron (hydr)oxides from mine tailings under marine conditions
Mining industry faces environmental problems concerning waste management. Given the environmental issues associated with storage of mine wastes on land, one disposal option that has gained attraction is submarine tailings ...
De la genómica a la modelización: estudios poblacionales a nivel individual en peces litorales del Mediterráneo occidental
La conectividad y la adaptación local son dos fuerzas evolutivas contrastantes que influyen en la estructura poblacional. Debido a su complejo ciclo de vida, las especies de peces marinos tienden a estructurarse en ...
Seqüenciació massiva aplicada a l'epidemiologia d'aigües residuals i a la caracterització de viromes
L’objectiu principal de la present tesi doctoral ha estat l’optimització i aplicació de procediments basats en la seqüenciació massiva per a la descripció del viroma associat a l’aigua residual i a altres mostres d’interès ...
Deconstruction of the cardiopharyngeal gene regulatory network in appendicularians, a paradigmatic study of Oikopleura dioica as an evolutionary knockout model
The bloom of genomic data has revealed a vast amount of gene losses across all life kingdoms. However, the impact of gene loss on the evolution of the mechanisms of embryo development remains an important challenge. In ...
Genetic and epigenetic signatures of attention-deficit/hyperactivity disorder
Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental, complex and highly heritable disorder characterised by age-inappropriate symptoms of inattention, impulsivity and hyperactivity that impair the daily ...
Genètica i epigenètica de les addiccions i trastorns comòrbids
Aquesta Tesi té com a objectiu principal contribuir a l’estudi i a la identificació de factors genètics i epigenètics de susceptibilitat a les addiccions i a trastorns comòrbids, tant en humans com en models animals. Els ...
Study of the components that determine the applicability of pathogenicity predictors in the clinical setting
The translation of Next Generation Sequencing (NGS) technologies from the research field to the clinical setting and, specifically, the results obtained in terms of diagnostic yield remain far from expected. This situation ...
Nuevos aspectos de la regulación de la virulencia en cepas enteroagregativas de Escherichia coli
En el momento del inicio de esta tesis doctoral, nuestro grupo de investigación, analizando el genoma de la cepa enteroagregativa E. coli 042 pudo comprobar que, además de los genes hha e ydgT (presentes en la mayoría de ...
Epidemiological study of aromatase inhibitors in women diagnosed with breast cancer: evaluation and management of secondary effects
Aromatase inhibitors (AI) are one of the main therapies to treat estrogen-receptor positive breast cancer. AI use is associated with several side effects that affects patient’s quality of life and reduces treatment adherence. ...
