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Now showing items 19890-19909 of 42462
Genetic analysis of neural crest migration: Requirement of Dapper2-mediated inhibition of the Wnt canonical activity
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 ...
Genetic Analysis of the prehistoic peopling of Western Europe: Ancient DNA the role of contamination
In this thesis we have addressed three different although related topics. First, we studied the post-mortem mutation damage rate of contaminated DNA sequences in ancient human remains focusing on the development of strategies ...
Genetic and biochemical approaches to decipher the molecular basis of the pathology in LCA12 and RP10 retinal dystrophies
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, ...
Genetic and environmental factors in asthma: a population based European study
L'asma és una malaltia d'etiologia complexa, formada per factors genètics i ambientals, on la interrelació de ambdós factors mitjançant interaccions gen-ambient juga un paper clau. L'objectiu d'aquesta tesi ha sigut ...
Genetic and Environmental Risk factors associated with Obsessive-Compulsive Disorder and its symptom dimensions: A twin study
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 ...
Genetic and epigenetic insights into colorectal tumorigenesis
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 ...
Genetic and epigenetic mechanisms regulating the G1-S transcriptional wave in fission yeast
The control of proper progression of eukaryotic cell cycle is essential if cells want to continue proliferating appropriately, and it is a conserve feature from yeast to human cells. One of the most important points of ...
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 ...
Genetic and metabolic alterations in maternal and paternal one carbon metabolism and development of pregnancy complications of placental origin
Les complicacions durant l’embaràs derivades de problemes en la placenta, incloent hipertensió gestacional (HG) i retard del creixement intrauterí (CIR), posen la salut de la mare i del nadó en risc. Un mal estat del ...
Genetic and molecular analysis or Sanfilippo C syndrome. Generation of a neuronal model using human induced pluripotent stem (iPS) cells and therapeutic strategies
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 ...
Genetic and molecular basis of reproductive efficiency in swine
En els darrers anys, la caracterització del transcriptoma s'ha convertit en un tema candent a la recerca genòmica, ja sigui en humans o en animals. En aquests últims, els avanços en transcriptòmica tenen com a principal ...
Genetic and molecular biomarkers of Alzheimer's disease
[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 ...
Genetic and molecular study of Brassinosteroid receptors in Sorghum bicolor
La importància dels brasinosteroides per al desenvolupament de les plantes i la seva adaptació a diferents tipus d’estrès, biòtic i abiòtic, ha estat demostrada. El nostre treball previ amb Arabidopsis va demostrar que ...
Genetic and phenotypic differentiation in three chromosomal arrangements of drosophila subobscura
Introducción El calentamiento global afecta de modo distinto a diferentes especies. Una de las especies en las que se ha documentado una respuesta genética a la adaptación térmica es Drosophila subobscura. Las clinas ...
Genetic and proteomic study of ERCC4/XPF in DNA repair and human diseases
Qualsevol canvi en el DNA d’un organisme pot afectar tots els aspectes de la seva vida, fins el punt de comprometre-la. Per tal de superar aquesta situació, les cèl·lules han evolucionat fins adquirir sofisticades maquinàries ...
Genetic approach to unravel the molecular basis of severe early-onset obesity
Tot i que l’obesitat és clarament deguda a un desequilibri entre la ingesta d’energia i la despesa, i està molt associada a l’estil de vida, es considera una malaltia multifactorial amb una alta heretabilitat (50-75%), ...
Genetic approaches to improve hereditary cancer diagnosis based on next-generation sequencing data
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 ...
Genetic architecture of agronomic traits in peach [Prunus persica (L.) Batsch]: subacid, flat shape and nectarine
L'objectiu dels programes de millora genètica del préssec és generar varietats adaptats a les condicions agronòmiques locals i satisfer els requeriments del consumidor. Això últim implica millorar la qualitat del fruit. ...
Genetic architecture of complex disease in humans :a cross-population exploration
The aetiology of common diseases is shaped by the effects of genetic and environmental factors. Big efforts have been devoted to unravel the genetic basis of disease with the hope that it will help to develop new therapeutic ...
Genetic association analysis of complex diseases through information theoretic metrics and linear pleiotropy
The main goal of this thesis was to help in the identification of genetic variants that are responsible for complex traits, combining both linear and nonlinear approaches. First, two one-locus approaches were proposed. The ...
