Browsing by Subject "575"
Now showing items 1-20 of 1073
A comprehensive analysis of blastocyst chromosome mosaicism in PGT-A cycles
El mosaicismo cromosómico embrionario implica la coexistencia de 2 o más líneas celulares con distinta constitución cromosómica en un embrión. En contraste con las aneuploidías meióticas, las alteraciones en mosaico se ...
A comprehensive functional study of Caenorhabditis elegans rsr-2 uncovers a new link between splicing and transcription
Durant el transcurs d’un rastreig a gran escala per RNA d’interferència (iARN) en Caenorhabditis elegans, el gen rsr-2 va ser identificat com a interactor genètic del gen lin-35 Retinoblastoma, l’homòleg de la família ...
A Comprehensive multiomics approach towards understanding obsessive-compulsive disorder
To date, very little progress has been made towards elucidating the genetic causes of obsessive-compulsive disorder (OCD). In this project we have performed rare variant association study (RVAS) transcriptomics and ...
A Comprehensive screening of X-linked and miRNA-driven signatures of positive selection and the role of cis-regulatory elements in the human genome
The evolutionary history of the human genome has been shaped by the selection of multiple elements in response to different environmental pressures. The analysis of regulatory adaptations and the particularities of sexual ...
A multiscale spatiotemporal map of protein-RNA assemblies in human cells
RNA metabolism is dynamically orchestrated by RNA-binding proteins (RBPs) in different subcellular spaces. Aberrant regulation of the subcellular RNA-protein interactions leads to severe diseases, such as neural degenerations ...
A Multivariate approach to study the genetic determinants of phenotypic traits
We have developed an efficient and reproducible pipeline for the identification of genetic variants affecting splicing (splicing quantitative trait loci or sQTLs), based on an approach that captures the intrinsically ...
A New in vitro model to study the regulatory functions of β cells in early stages of type1 diabetes
Type 1 Diabetes (T1D) is an autoimmune disease marked by the selective destruction of pancreatic β cells. Early insulitis involves interactions between immune cells and β cells, but the mechanisms leading to β cell death ...
A new role for Sonic Hedgehog signalling in morphogenesis of the spinal cord = Nuevas funciones de la vía de señalización Sonic Hedgehog en la morfogénesis de la médula espinal
Development of the posterior spinal cord involves secondary neurulation, a process poorly understood in which neural tube is formed by cavitation of the tail bud. Comprehension of secondary neurulation is required to ...
A study on the phylogeny and the ecology of ammonia-oxidizing bacteria using a new molecular marker based on the gene amoB
L'agricultura i la industrialització han causat un augment significatiu del nombre d'ambients rics en amoni. La presència de compostos nitrogenats redueix la qualitat de l'aigua, causant problemes de toxicitat, deteriorant ...
A system-level, molecular evolutionary analysis of mammalian phototransduction
Phototransduction is the biochemical process by which a light stimulus is converted to a neuronal signal. The process functions through complex interactions between many proteins, which work in concert to tightly control ...
A Systems-level study of giant regulation in Drosophila melanogaster
Esta tesis revela la regulación transcripcional del gen gap giant (gt) en el embrión blastodermal de Drosophila por ingeniería inversa: un modelo matemático infiere los mecanismos subyacentes de datos cuantitativos de ...
Accessing genetic variability in Spanish barleys through high-throughput sequencing
L'ordi és un cultiu important a la regió mediterrània, caracteritzada per precipitacions escasses i irregulars. A la Península Ibèrica, ha estat conreat durant milers d'anys, permeten l’aparició d’adaptacions específiques ...
Acels i nemertodermàtides: bilaterals basals o platihelmints? Aproximació multigénica a l'origen dels metazous bilaterals.
La transició d'animals amb un eix, simetria radial i dues capes embrionàries a animals amb dos eixos, simetria bilateral i tres capes embrionàries fou un dels esdeveniments més importants de la història evolutiva animal. ...
Acid ceramidase and sphingosine-1-phosphate lyase as biomarkers and therapeutic targets in cancer. (Ceramidasa ácida y Esfingosina-1-fosfato Liasa como biomarcadores y dianas terapéuticas en cáncer)
Cer and So are involved in regulation of apoptosis and cell cycle arrest while on the other hand S1P promotes cell growth and inhibits apoptosis. The antagonistic effects of these metabolites are regulated by enzymes that ...
Acquisition and maintenance of transient imprinted DMRs in the human placenta and their role in development
Genomic imprinting is an epigenetic phenomenon resulting in the monoallelic expression of a subset of genes in a parent-of-origin-specific manner. In general, the promoters of these transcripts contain differentially ...
Adaptation in Drosophila melanogaster Natural Populations. Fitness Effects and Evolutionary History of a Natural Insertion and Molecular Effects of Several Transposable Elements on Immune-Related Genes
A major challenge of modern Biology is elucidating the genetic basis of adaptation. While there are many SNP-based studies trying to elucidate the genetic basis of genotype-phenotype relationships, the role of transposable ...
Adapted application of NGS to improve genetic characterization of tuberous sclerosis complex and spinal muscular atrophy patients
La next-generation sequencing (NGS) ha suposat un canvi radical en el diagnòstic de les malalties genètiques, ja que permet la seqüenciació paral·lela massiva d'àmplies regions de DNA en múltiples pacients en el mateix ...
Adaptive evolution and acid tolerance of the wine bacterium Oenococcus oeni
Oenococcus oeni és el principal bacteri làctic responsable de la fermentació malolàctica al vi. Aquesta segona etapa de fermentació permet reduir l’acidesa total, aportant rodonesa, suavitat i estabilitat microbiològica ...
Adaptive history of the chimpanzee subspecies in the genomic era
Although universal and unavoidable, aging does not occur in a uniform way. In this dissertation, we assessed the effects of early life exposure to pro-inflammatory risk factors (air pollution and obesity) on mitochondrial ...
Addressing functional and evolutionary implications of microRNA variation at the DNA and RNA levels in primates
microRNAs are small non-coding RNAs with crucial roles in gene regulation and whose contribution to animal evolution has been largely demonstrated. In this thesis we explored some functional consequences of microRNA sequence ...
