REPISALUD is the institutional repository of the Instituto de Salud Carlos III (ISCIII) and its foundations: the Centro Nacional de Investigaciones Cardiovasculares (CNIC) and the Centro Nacional de Investigaciones Oncológicas (CNIO). This repository gathers both scientific and academic production of these institutions in a single, open-access digital archive.
Institutional reports and studies from ISCIII about COVID-19
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Titin domains with reduced core hydrophobicity cause dilated cardiomyopathy.
The underlying genetic defect in most cases of dilated cardiomyopathy (DCM), a common inherited heart disease, remains unknown. Intriguingly, many patients carry single missense variants of uncertain pathogenicity targeting the giant protein titin, a fundamental sarcomere component. To explore the ...
An Ontology-Based Approach for Consolidating Patient Data Standardized With European Norm/International Organization for Standardization 13606 (EN/ISO 13606) Into Joint Observational Medical Outcomes Partnership (OMOP) Repositories: Description of a Methodology
Background: To discover new knowledge from data, they must be correct and in a consistent format. OntoCR, a clinical repository developed at Hospital Clínic de Barcelona, uses ontologies to represent clinical knowledge and map locally defined variables to health information standards and common dat...
MYC directly transactivates CR2/CD21, the receptor of the Epstein-Barr virus, enhancing the viral infection of Burkitt lymphoma cells.
MYC is an oncogenic transcription factor dysregulated in about half of total human tumors. While transcriptomic studies reveal more than 1000 genes regulated by MYC, a much smaller fraction of genes is directly transactivated by MYC. Virtually all Burkitt lymphoma (BL) carry chromosomal translocati...
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