Mostrando resultados 6 a 13 de 13
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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | jul-2022 | Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia | Benito-Vicente, Asier CSIC ORCID; Uribe, Kepa B. CSIC ORCID; Larrea, Asier CSIC ORCID; Palacios, Lourdes; Cenarro, Ana; Calle, Xabier; Galicia-García, Unai CSIC ORCID; Jebari-Benslaiman, Shifa CSIC ORCID CVN; Sánchez-Hernández, Rosa M.; Stef, Marianne; Lambert, Gilles; Civeira, Fernando; Martín, César CSIC ORCID | artículo |
| closedAccess |  | may-2022 | Lipoprotein(a) in hereditary hypercholesterolemia: Influence of the genetic cause, defective gene and type of mutation | Marco Benedí, Victoria; Cenarro, Ana; Laclaustra, Martín; Larrea, Asier CSIC ORCID; Jarauta, Estíbaliz; Laquimiz, Itziar; Calmarza, Pilar; Bea, Ana M.; Plana, Núria; Pintó, Xavier; Martín, César CSIC ORCID; Civeira, Fernando | artículo |
| closedAccess |  | ago-2021 | MLB-LDLR: A machine learning model for predicting the pathogenicity of LDL receptor missense variants | Larrea, Asier CSIC ORCID; Jebari-Benslaiman, Shifa CSIC ORCID CVN; Galicia-García, Unai CSIC ORCID; Benito-Vicente, Asier CSIC ORCID; Arrasate, Sonia; Cenarro, Ana; Civeira, Fernando; González-Díaz, Humberto CSIC ORCID | artículo |
| openAccess |  | nov-2021 | MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants | Larrea, Asier CSIC ORCID; Benito-Vicente, Asier CSIC ORCID; Fernández-Higuero, José Ángel CSIC ORCID; Jebari-Benslaiman, Shifa CSIC ORCID CVN; Galicia-García, Unai CSIC ORCID; Uribe, Kepa B. CSIC ORCID; Cenarro, Ana; Ostolaza, Helena CSIC ORCID; Civeira, Fernando; Arrasate, Sonia; González-Díaz, Humberto CSIC ORCID; Martín, César CSIC ORCID | artículo |
| closedAccess |  | ene-2020 | Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia | Lamiquiz-Moneo, Itziar; Restrepo-Córdoba, María Alejandra; Mateo-Gallego, Rocío; Bea, Ana M.; Alberiche-Ruano, María del Pino; García-Pavía, Pablo; Cenarro, Ana; Martín, César CSIC ORCID; Civeira, Fernando; Sánchez-Hernández, Rosa María | artículo |
| openAccess |  | jun-2021 | SR-B1, a key receptor involved in the progression of cardiovascular disease: A perspective from mice and human genetic studies | Gracia-Rubio, Irene; Martín, César CSIC ORCID; Civeira, Fernando; Cenarro, Ana | artículo de revisión |
| openAccess |  | jun-2021 | STARD1 promotes NASH-driven HCC by sustaining the generation of bile acids through the alternative mitochondrial pathway | Conde de la Rosa, Laura CSIC ORCID ; García-Ruiz, Carmen CSIC ORCID ; Vallejo, Carmen CSIC; Baulies, Anna CSIC ORCID; Nuñez, Susana CSIC; Monte, Maria J.; Marín, José J. G.; Baila-Rueda, Lucía; Cenarro, Ana; Civeira, Fernando; Fuster, Josep; García-Valdecasas, Juan Carlos; Ferrer, Joana; Karin, Michael; Ribas, Vicent CSIC ORCID; Fernández-Checa, José C. CSIC ORCID | artículo |
| closedAccess |  | jul-2022 | Supplemental Material Leu22_Leu23 duplication at the signal peptide of PCSK9 promotes intracellular degradation of LDLr and autosomal dominant hypercholesterolemia | Benito-Vicente, Asier CSIC ORCID; Uribe, Kepa B. CSIC ORCID; Larrea, Asier CSIC ORCID; Palacios, Lourdes; Cenarro, Ana; Calle, Xabier; Galicia-García, Unai CSIC ORCID; Jebari-Benslaiman, Shifa CSIC ORCID CVN; Sánchez-Hernández, Rosa M.; Stef, Marianne; Lambert, Gilles; Civeira, Fernando; Martín, César CSIC ORCID | dataset |
