Universitat de Barcelona
Now showing items 5426-5445 of 11307
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 ...
[eng] During radiotherapy (RT) some healthy tissues are irradiated inevitably causing side effects, without being able to predict nowadays which patients will develop this toxicity. To date, the biomarker with the best ...
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 ...
In this work we have analyzed the variation of (i) several X chromosome polymorphic Alu insertions and (ii) several SNPs and microsatellites within and around the genomic regions of the genes coding for coagulation factors ...
After ischemic damage in kidney, alternatively activated or M2 macrophages are key players in resolving inflammation and participating in kidney repair. Obtaining this particular phenotype is a process controlled by ...
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. ...
The present thesis deals with a deep analysis of the genetic structure of extant human worldwide populations, with a special focus on the Mediterranean. Different genetic markers, 18 Alu insertions and 367 single ...
Arabidopsis thaliana is a small ruderal weed with prominent north-hemisphere distribution. It has an autogamous style of reproduction, whereas about 3% of the natural population can exhibit outcrosses. Some of these ...
Aquesta tesi pretenia proporcionar noves perspectives sobre les relacions evolutives entre llagostes de l'infraordre Achelata utilitzant marcadors moleculars, tant d'evolució lenta com d'evolució ràpida, i calcular el temps ...
