Now showing items 264-283 of 1297

    De novo genome assemblies of endagered species and challenging chromosomes 

    Palmada Flores, Marc (Date of defense: 2023-11-27)

    Modern biology relies on genomic references to perform analyses in most studies. High-quality de novo genome assemblies are key to having references containing all the genomic content of a species. Here I use avant-garde ...

    Deciphering adaptation in the human genome : the case of CaSR in south-east Asian hunter-gatherers 

    Sinigaglia, Barbara (Date of defense: 2022-11-25)

    Several rainforest hunter-gatherer groups in south-east Asia are characterized by specific morphological features including a particularly dark skin color (D), an extremely short stature (S), the development of woolly hair ...

    Deciphering B lymphocyte dynamics in health and disease through the integrative analysis of multi-modal single-cell data 

    Aguilar Fernández, Sergio (Date of defense: 2024-04-24)

    The intrinsic complexity and dynamic nature of B-lymphocytes make them ideal for in-depth analysis using single-cell technologies. Secondary lymphoid organs (SLOs) are central in B-lymphocyte activation and differentiation, ...

    Deciphering the nuclear function of folate enzyme MTHFD2 in cancer: a novel role for nuclear MTHFD2 in mitosis 

    Pardo Lorente, Natalia (Date of defense: 2023-10-06)

    Subcellular compartmentalisation of metabolic enzymes may elicit specific cellular functions by establishing a unique metabolic environment. Indeed, the nuclear translocation of certain metabolic enzymes impacts epigenetics ...

    Deciphering the role of alternatively spliced microexons during vertebrate nervous system development and function 

    López Blanch, Laura (Date of defense: 2021-04-30)

    Neural microexons are the most conserved type of alternative splicing, suggesting a strong functional relevance. Consistently, mutation of their master regulators leads to dramatic neurodevelopmental alterations and ...

    Deciphering the role of RBM10 in development and cancer using a genetic mouse model 

    Maldonado Barragán, Ana Margarita (Date of defense: 2021-03-26)

    Short explanation English To reveal how RBM10 loss contributes to development and cancer we have established Rbm10 constitutive and conditional knockout mouse models and have analyzed phenotypes at the organismal and ...

    Decoding the epitranscriptomic complexity through computational methods based on long-read sequencing 

    Delgado Tejedor, Anna (Date of defense: 2024-03-21)

    RNA modifications, collectively known as the ‘epitranscriptome’, play a major role in multiple biological processes, including splicing regulation, gene expression regulation and antibiotic resistance. Unfortunately, ...

    Decoding the immune evasive properties of cancer stem cells in breast cancer immunotherapy resistance 

    Pérez Núñez, Iván (Date of defense: 2023-03-13)

    Cancer stem cells (CSCs) fuels tumours and are involved in therapy resistance, yet their contribution immunotherapy resistance and immunological properties are poorly understood. Herein, we show that within tumour phenotypic ...

    Decoding the nature of the transcriptional response to stress 

    Latorre Doménech, Pablo (Date of defense: 2021-06-15)

    Virtually all living organisms are challenged by changes in their environment, such as sudden increases in osmolarity. To cope with these stresses, cells have developed stress responses that tune every aspect of cell ...

    Deep learning for drug design : modeling molecular shapes 

    Skalic, Miha (Date of defense: 2019-07-30)

    Designing novel drugs is a complex process which requires finding molecules in a vast chemical space that bind to a specific biomolecular target and have favorable physio-chemical properties. Machine learning methods can ...

    Deep sequencing approaches to investigate the dynamics and evolution of interaction networks of Candida pathogens and the human host 

    Thuer, Ernst (Date of defense: 2017-09-22)

    This thesis describes the application of Next Generation Sequencing, especially RNA sequencing, on the investigation of the pathogenic yeast Candida parapsilosis. Pathogenic yeasts of the Candida clade are one of the most ...

    Defining DYRKs interactome: approaches for the characterization of proximity-dependent interactions and identification of direct substrates 

    Balbastre Català, Borja (Date of defense: 2022-10-27)

    Dual-specificity tyrosine-regulated kinases (DYRKs) are a conserved family of protein kinases present in all eukaryotes. In mammals, the association of DYRKs with a wide variety of putative substrates and interactors, in ...

    Delineating a requirement for Survival of Motor Neuron (SMN) protein in skeletal muscle tissue 

    Faleiro, Michelle R. (Date of defense: 2017-03-27)

    Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by the degeneration of the lower motor neurons. It is caused by homozygous loss or mutations in the Survival Motor Neuron 1 (SMN1) ...

    Delineating epigenetic regulatory mechanisms of cell profileration and differentiation 

    Islam, Abul (Date of defense: 2012-06-25)

    Recent advances in high throughput technology have opened the door to systematic studies of epigenetic mechanisms. One of the key components in the regulation of the cell cycle and differentiation is the retinoblastoma ...

    Demographic inference in complex populations: the North African case 

    Serradell Noguera, Jose Miguel (Date of defense: 2024-03-01)

    Since the first peopling of the region, multiple demographic events have occurred generating a complex genetic landscape in North Africa characterized by high genetic heterogeneity and constant gene flow from surrounding ...

    Demographic insights of human north African populations using genetic data 

    Rodríguez Botigué, Laura (Date of defense: 2012-11-16)

    The history of North Africa is extremely complex, and it has been difficult to assess from genetic and archeological data whether early populations were replaced by later migrations or if there has been continuous ...

    Demography and genetic adaptation: examples from human populations 

    Mendizábal Eceizabarrena, Isabel (Date of defense: 2012-07-27)

    The human colonization of worldwide landmasses occurred through complex patterns of dispersal and admixture. At the same time, the survival in the different areas of the world depended on the adaptation to new habitats ...

    Desarrollo de nuevos métodos estadísticos y/o bioinformáticos para la detección de variaciones en el número de copias (CNVs) y su relación con enfermedades humanas 

    Vilardell Nogales, Mireia (Date of defense: 2008-07-01)

    El descubrimiento de las duplicaciones segmentarias (DS) o Low Copy Repeats (LCRs) ha permitido definir nuevos mecanismos evolutivos mediados, en gran parte, por duplicación génica. Las DS son responsables de reordenamientos ...

    Descripció, evolució i possibles causas de la mortalitat al sud-oest d'Espanya : una anàlisi des de l'epidemiologia geogràfica 

    Buxó Pujolràs, Maria (Date of defense: 2013-03-08)

    Descriure l’ agregat d’àrees petites amb un elevat risc de mortalitat detectat a la zona sud-oest d’Espanya, en particular a les províncies de Huelva, Sevilla i Cadis (HSC) durant el període 1987-1995, analitzar la seva ...

    Desigualdad, opresiones de poder y salud reproductiva : O cómo las opresiones de poder generan desigualdades en la salud reproductiva de las mujeres 

    León Gómez, Brenda Biaani (Date of defense: 2020-10-08)

    Podrán cuestionarse históricamente la existencia de un vínculo entre las opresiones de poder, la reproducción y la salud en general sin embargo no cabe la menor duda que punto y aparte de nuestras diferencias genéticas o ...