Universitat de Barcelona
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A fundamental step in embryo development is the transition through pluripotency. There are two known sequential states of pluripotency termed naïve and primed pluripotency. Considerable efforts have been made to characterize ...
[eng] Neonatal arterial ischemic stroke (NAIS) is a cerebrovascular disease that shows a focal disruption of cerebral blood flow due to artery obstruction. Due to its early onset, it can cause long-lasting outcomes such ...
El trastorn per dèficit d’atenció amb hiperactivitat (TDAH) és un trastorn del neurodesenvolupament caracteritzat per símptomes d’inatenció i/o hiperactivitat/impulsivitat. Nombrosos estudis suggereixen un important component ...
[eng] Precision medicine aims to provide personalized patient care using genetic data. However, interpreting the phenotypic consequences of genetic variants remains a bottleneck in both clinical and research settings. ...
[eng] The Central nervous system (CNS) originates from the coordinated events that result into neural specification and the morphogenic events that shape the neural tube (NT). Then, the embryonic NT should grow and generate ...
La presente tesis doctoral consta de 4 proyectos independientes centrados en el estudio de las causas genéticas del cáncer colorrectal (CCR) hereditario: A) Estudio de una variante común (rs2075786) en el gen de la ...
[eng] In eukaryotes, histone proteins bind and pack genomic DNA into chromatin. The basic structural subunit of chromatin is the nucleosome, which is formed by the interaction of an octamer of the core histone proteins ...
The thesis objectives resulted from previous work from Dr Martínez-Balbás lab that characterized the cooperation between TGFβ and JMJD3 to regulate transcription at enhancers, promoters, and gene bodies.Taking into ...
Un dels factors pronòstics més importants en la leucèmia limfàtica crònica (LLC) són les categories de risc citogenètic, basades en la detecció de del(13q), trisomia 12, del(11q) i del(17p) per hibridació in situ fluorescent ...
[eng] Fungal infections pose a serious health threat, affecting >1,000 million people and causing ~1.5 million deaths each year. The problem is growing due to insufficient diagnostic and therapeutic options, increased ...
Xenopus laevis oocytes are transcriptionally silent cells that require hormone stimulation for maturing into fecundation-competent eggs. Meiosis resumption underlying oocyte maturation is governed by sequential waves of ...
[eng] Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by a regression in acquired skills, such as purposeful hand use and language, after an apparently normal early development. RTT affects ...
One of the central aims of biology and biomedicine has been the characterisation and understanding of genetic variation across humans, to answer important evolutionary questions and to explain phenotypic variability ...
Understanding how organisms adapt to their environment remains an open question in Biology. So far, most projects focus on the study of single nucleotide polymorphism variants, while other types of mutations, likely to ...
[spa] Establecer la naturaleza patogénica de las variantes de secuencia en ATM, un gen asociado con el cáncer de mama y otros cánceres hereditarios, es crucial para brindar una atención adecuada a los pacientes. Sin embargo, ...
La función principal del sistema de reparación de apareamientos erróneos (MisMatch Repair, MMR) es corregir los errores principalmente introducidos por las DNA polimerasas durante la replicación del genoma. Las mutaciones ...
The identification and analysis of genomic variation across individuals has been central in biology, first through comparative genomics to answer evolutionary questions, and then in the context of biomedicine, where it is ...
[eng] Epigenetic mechanisms play a vital role in gene expression regulation and phenotype determination. This thesis aimed to comprehensively investigate the transcriptome, the methylome and the influence of intrinsic (such ...
In many organisms, sex is determined by a combination of genetic and environmental influences. Epigenetic regulatory mechanisms such as DNA methylation integrate both types of influences. However, understanding how genetic ...
The role of fatty acids to overcome stress and contribute to disease progression is becoming increasingly evident in haematological diseases. Further, epigenetic factors play an important role in the aetiology of myelodysplastic ...
