Bioinformatic interpretation of microRNA role in three phenotypically related genodermatoses
| Autor: | Santos Cortés, Andrea |
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| Přispěvatelé: | León Canseco, Carlos, Universidad Carlos III de Madrid. Departamento de Bioingeniería e Ingeniería Aeroespacial |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: | |
| Zdroj: | e-Archivo. Repositorio Institucional de la Universidad Carlos III de Madrid instname |
| Popis: | The well-known regulatory function of microRNAs seems to play an important role in disease mechanism. Recent hypotheses have positioned them as a promising option for the study of genetic disorders. In this context, the microRNA profile of three phenotypically related rare genodermatoses, namely Recessive Dystrophic Epidermolysis Bullosa, Kindler Syndrome and Xeroderma Pigmentosum type C, is going to be analyzed taking as a reference healthy controls within the frame of network medicine concepts. Bioinformatics tools have proven to be essential to keep track of the alteration of the dysregulated microRNAs all over the organism. This thesis provides a direct correlation between the real and observable symptoms of the three conditions and the distortion at molecular level caused by pathogenic pathways. From the network analysis and functional enrichment analysis, a small selection of microRNAs and target genes are proposed as potential candidates for further research. Thus, with this project, it becomes evident the need of powerful predictive research tools previous to laboratory validation. In the considerably new field of microRNAs, the design and elaboration of more precise treatments as well as the discovery of biomarkers for early detection prevail among the possible different applications. Ingeniería Biomédica |
| Databáze: | OpenAIRE |
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