Browsing by Title

Genetic profile of Western Mediterranean populations: contributtion of Arab and Jewish groups

Bentayebi, Kaoutar (Date of defense: 2012-06-09)

Este trabajo describe la diversidad genética de las poblaciones actuales del Oeste del Mediterráneo según dos polimorfismos: nueve polimorfismos Alus y doce microsatelites (STR) presente en el cromosoma X. En este trabajo, ...

Genetic Risk Factors for the Lack of Response to Clinical Treatment in Mental Disorders: an Approach from Pharmacogenetics

Mitjans Niubó, Marina (Date of defense: 2014-12-17)

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 ...

Genetic risk factors in Schizophrenia and Neurodevelopmental disorders: Association and epistatic analyses of Neuritin-1 gene and white matter related genes = Factores genéticos en esquizofrenia y enfermedades del neurodesarrollo: análisis de asociación y epistáticos en el gen Neuritina-1 y en genes relacionados con la materia blanca

Prats Balado, Claudia (Date of defense: 2017-09-29)

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 ...

Genetic structure of North African human populations : A complex history of admixture

Rubio Araúna, Lara (Date of defense: 2017-12-14)

North African populations show a complex genetic structure characterized by the admixture of at least four different components: Middle Eastern, sub-Saharan, European and autochthonous North African. However, there are few ...

Genetic studies of emotional behaviour in rats

Mont i Cardona, Carme (Date of defense: 2015-01-23)

Aquest treball doctoral explora dues aproximacions a l’estudi de la conducta a través de la genètica. La primera és una aproximació de caire intervencionista l'objectiu de la qual és estudiar la funció conductual de la ...

Genetic variability and telomere length in bariatric surgery outcomes in obese patients

Peña Lozano, Elionora (Date of defense: 2020-11-13)

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 ...

Genetic variability of minnows and loaches in rivers and high mountain lakes from the Pyrenees and Italian Alps

Suh, Jongmo (Date of defense: 2024-02-20)

[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, ...

Genetic variation and complex rearrangements in Autism Spectrum Disorders: implications for genetic counseling

Codina i Solà, Marta (Date of defense: 2016-07-14)

The etiology of Autism Spectrum Disorders (ASD) remains unknown for most of the cases, in spite of its strong genetic component. A greater knowledge of its genetic basis would result in many benefits, including specific ...

Genetic variation in human miRNAs : functional consequences and involvement in Cancer

Torruella Loran, Ignasi (Date of defense: 2016-10-28)

Els microRNAs són importants reguladors de gens i destacats contribuïdors a la diversitat fenotípica clarament involucrats en malaltia humana. Hem analitzat la variabilitat genètica en microRNAs i como aquesta variabilitat ...

Genetic variation in humans and chimpanzees in the prion protein gene

Soldevila Trepat, Marta (Date of defense: 2005-06-20)

En el gen de la proteïna priònica, o PRNP, hem observat que el particular patró de variació que hem trobat basant-nos en dades de seqüenciació en humans es deu a selecció positiva, i que el mètode utilitzat per detectar ...

Genetic variation in serotonergic system genes: vulnerability for major depression and pharmacogenetics of response to SSRI antidepressants

Arias Sampériz, Bárbara (Date of defense: 2003-01-01)

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 ...

Genetic variation of the X chromosome and the genomic regions of Coagulation Factors VII and XII in human populations: Epidemiological and evolutionary considerations

Athanasiadis, Georgios (Date of defense: 2010-07-14)

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 ...

Genetic, genomic and epigenetic alterations in congenital malformations : implications in genetic counseling

Serra Juhé, Clara (Date of defense: 2012-10-20)

Mechanisms underlying congenital malformations are largely unknown despite its high incidence, affecting 2-3% of liveborn infants. A broader knowledge about the causes of birth defects would provide valuable information ...

Genetical, structural and functional characterization of the human BTNL gene cluster

Aigner, Johanna (Date of defense: 2013-11-25)

La família B7 de proteïnes és àmpliament reconeguda per jugar un paper important en els processos inflamatoris mitjançant l'alteració de la capacitat de resposta de les cèl•lules T. La unió d’aquestes proteïnes als seus ...

Genetically engineering living systems: From complex computational scenarios to multiple market applications

Mogas Diez, Sira (Date of defense: 2022-01-28)

This PhD thesis explores the potential embedded in living organisms, understood as highly complex machines which can sense, compute, and react to changes in their surroundings. From this general idea, we have made use of ...

Genetically Modified Macrophages and Renal Regeneration

Mastora, Chrysoula (Date of defense: 2013-12-10)

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 ...

Genetics and epigenetics of attention-deficit/hyperactivity disorder and comorbid conditions

Shivalikanjli, Anu (Date of defense: 2021-04-06)

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. ...

Genetics and transcriptomics of adherent-invasive Escherichia coli (AIEC): new approaches to uncover molecular markers for its rapid identification

Camprubí Font, Carla (Date of defense: 2019-07-26)

The adherent-invasive Escherichia coli (AIEC) pathotype could play a role in the course of Crohn’s disease. This is characterized by its capacity to adhere to and to invade intestinal epithelial cells as well as to replicate ...

Genetics of human populations: evolutionary and epidemiological applications = Genética de las poblaciones humanas: aplicaciones evolutivas y epidemiológicas

Zanetti, Daniela (Date of defense: 2015-11-26)

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 ...

Genetics of male infertility: molecular study of non-syndromic cryptorchidism and spermatogenic impairment

Lo Giacco, Deborah Grazia (Date of defense: 2013-11-22)

La presente tesis es una aportación al conocimiento de las bases genéticas de la criptorquidia no sindrómica y de las formas idiopáticas de espermatogénesis anómala. RXFP2 y ESR1 son dos genes candidatos en la etiología ...