Universitat de Barcelona
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Il pensiero teoretico del filosofo italiano Michele Federico Sciacca è il tema principale di questa tesi di dottorato. Sciacca si interessò costantemente alla cultura spagnola e amò la Spagna quanto una seconda patria, ...
The finding of a suite of unusual minerals associated to ophiolitic chromitites questions traditional model for the formation of these rocks. These findings include minerals typically considered indicators of ultra-high ...
Numerous initiatives to improve our understanding of cancer biology have been lunched in different laboratories that aim to describe the interactome and gene-expression profile in different tumour cell line. It is now ...
The main aim of this work was to characterize the molecular mechanisms that underlie the physiopathology of LCA12 and RP10, that are inherited retinal dystrophies caused by alterations in guanine nucleotide metabolism. First, ...
There is an incomplete understanding of the heritability and the specific genetic bases of Obsessive-Compulsive Disorder (OCD). It has a complex multifactorial etiology comprising both biological as well as psychosocial ...
Colorectal cancer (CRC) is a major health burden with large numbers of new cases worldwide and high disease-specific mortality, despite great advances made towards improving patient clinical outcomes. It arises through the ...
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 ...
Sanfilippo C syndrome is a lysosomal storage disorder that presents an autosomal recessive inheritance pattern and is caused by mutations in the HGSNAT gene, identified in 2006 in the chromosome 8. This gene codes for a ...
[eng] Alzheimer’s disease (AD) is the leading cause of dementia worldwide. Research in the past decade has led to major progress in understanding the genetic etiology of the disease; since I started my PhD (2019), nearly ...
The overarching aim of the present thesis project is to implement new testing strategies and develop new tools that will contribute to improve the genetic diagnosis of hereditary cancer, with the ultimate goal of individualizing ...
Cerebrovascular disease is the leading cause of disability in adults. Independent of clinical variables such as infarct size and location, stroke subtype, and vascular risk factors, individuals have disparate responses ...
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 ...
Low risk Human Papillomaviruses (LR-HPVs) 6 and 11 are the main causative agents of benign proliferative lesions such genital warts (GWs) and recurrent respiratory papillomatosis (RRP) (Aubin et al. 2008; Ball et al. 2011; ...
[eng] Substance use disorders (SUDs) are psychiatric disorders characterized by a recurring desire to continue taking a substance regardless of its destructive consequences. The etiology of SUDs is complex and multifactorial, ...
Osteoporosis is a systemic skeletal disorder and the most common metabolic bone disease. It is recognized as one of the most prevalent problems facing postmenopausal women in western society. The World Health Organization ...
Severe mental disorders, such as Major Depressive Disorder (MDD), Bipolar Disorder (BD) and Schizophrenia (SCZ), represent a huge burden to society, reflecting the limited efficacy of current drug treatments. Although the ...
Nowadays, it is estimated that about 450 million people suffer from a mental or behavioural disorder in the world. According to World health organization (WHO), 33% of the years lived with disability (YLD) are due to ...
Based on the background showing i) that obesity have a polygenic nature with the implication of different genes of minor effect and lifestyle factors; ii) the high variability between individuals in weight loss outcome ...
[eng] The invasion of alien species is a major global threat to ecosystems, with significant impacts, especially on freshwater ecosystems. The species diversity in freshwater ecosystems has significantly declined worldwide, ...
1. Objetivo General: Estudiar la variación existente en genes candidatos implicados en la neurotransmisión serotoninérgica como factor de riesgo en la depresión mayor y como factor relacionado con aspectos del fenotipo ...
