CORDIS proporciona enlaces a los documentos públicos y las publicaciones de los proyectos de los programas marco HORIZONTE.
Los enlaces a los documentos y las publicaciones de los proyectos del Séptimo Programa Marco, así como los enlaces a algunos tipos de resultados específicos, como conjuntos de datos y «software», se obtienen dinámicamente de OpenAIRE .
Resultado final
- We have identified 60 patient mutations in several repair genes.
- Using newly developed immunofluorescence techniques we have been able to visualise, inside the cells, the DNA repair proteins that are defective in XP. During DNA repair, we have been able to determine the order in which these DNA repair proteins are assembled at the sites of DNA damage, and localisation signals responsible for recruiting repair proteins, as well as the dynamics of the repair proteins in real-time.
- We have shown that after UV irradiation, cells are temporarily unable to continue the normal process of transcription. This ability recovers in normal cells but not in cells from patients with CS. We have gained insights into the mechanism of this inhibition.
- We have determined the three-dimensional structure of an important protein TFIIH that is used in both DNA repair and transcription, and shown that in all patients with TTD there are reduced amounts of TFIIH. We have shown that TFIIH is involved in activated transcription.
- We have demonstrated that special enzymes that are required to synthesise DNA past DNA damage are recruited to the sites where DNA is being replicated, and we have discovered how this recruitment takes place. One of these enzymes does not function in a variant form of XP.
-We have generated single and doubly mutant repair-deficient mice, and used them to understand the mechanisms of mutagenesis, carcinogenesis and ageing.
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