Universitat de Barcelona
Mostrando ítems 41-60 de 229
[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 ...
The connection between DNA folding and chromatin conformation has been much studied but the relation between the modulation of chromatin conformation and biological processes such as DNA damage, cell differentiation and ...
The main objective of this PhD dissertation was to unveil the links between biogeochemistry and microbial diversity using metagenomics functional potential as a proxy to connect a mechanistic perspective with whole-system ...
[spa] Desde que en el siglo pasado empezaron a tomarse en consideración los entonces incipientes estudios de Biología Marina para racionalizar la pesca de la época, una de las primeras preocupaciones fue la pesca al arrastre, ...
[eng] Advances in capturing technologies have yielded a massive production of large-scale molecular data that describe different aspects of cellular functioning. These data are often modeled as networks, in which nodes are ...
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 ...
Esta tesis se basa en diagnóstico de pacientes con deficiencia de 2 metil 3 hidroxibutiril CoA deshidrogenasa (MHBD o HSD10) y en el estudio de la fisiopatología de esta enfermedad y de su implicación en la Enfermedad de ...
Population ecology is a scientific discipline primarily interested in the ecological processes that make the number of individuals in a population to change over space and time, and by focusing on populations as fundamental ...
Widespread species have traditionally received much less attention than rare and endemic ones. However, they are crucial in macroecological patterns and in ecosystem structure and functioning. Thus, understanding the ...
Shallow-water rocky ecosystems in temperate areas are dominated by macroalgae, whilst zooxanthellate corals are extremely rare. In an era of global change, sea warming plays a crucial role in the widespread phase shifts ...
Sexual division of labour involving the use of teeth in non-masticatory activities in the Tigara population form Point Hope did not affect the wear of the upper and lower first molars and, therefore, food chewing was the ...
[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 ...
INTRODUCCIÓN: En el laboratorio clínico, antes de entregar el informe al solicitante, se realiza una revisión final de los resultados con la finalidad de detectar la existencia de resultados sospechosos de contener errores ...
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 ...
Somatic mutations are those that arise after the zygote is formed and are therefore inherited by a fraction of the cells of an individual. Their relevance in certain skin diseases has been known for almost half a decade ...
The incremental application of supercomputers to offer solutions to complex problems has motivated the usage of computational modeling tools in drug design pipelines. Specifically, small low-affinity compounds are modified ...
[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 ...
Lakes are ecosystems exposed to the combined influence of climate and catchment processes. Lakes collect and archive evidence of these forcings in their sediments through of a complex interaction with internal processes. ...
