未登录 OptiMo-LDLr: An Integrated In Silico Model with Enhanced Predictive Power for LDL Receptor Variants, Unraveling Hot Spot Pathogenic Residues Larrea-Sebal, Asier; Sasiain, Inaki; Jebari-Benslaiman, Shifa; Galicia-Garcia, Unai; Uribe, Kepa B.; Benito-Vicente, Asier; Gracia-Rubio, Irene; Bediaga-Baneres, Harbil; Arrasate, Sonia; Cenarro, Ana; Civeira, Fernando; Gonzalez-Diaz, Humberto; Martin, Cesar 分享 收藏
Contribution of APOE Genetic Variants to Dyslipidemia Bea, Ana M.; Larrea-Sebal, Asier; Marco-Benedi, Victoria; Uribe, Kepa B.; Galicia-Garcia, Unai; Lamiquiz-Moneo, Itziar; Laclaustra, Martin; Moreno-Franco, Belen; Fernandez-Corredoira, Pablo; Olmos, Salvador; Civeira, Fernando; Martin, Cesar; Cenarro, Ana 分享 收藏
Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia Benito-Vicente, Asier; Uribe, Kepa B.; Larrea-Sebal, Asier; Palacios, Lourdes; Cenarro, Ana; Calle, Xabier; Galicia-Garcia, Unai; Jebari-Benslaiman, Shifa; Sanchez-Hernandez, Rosa M.; Stef, Marianne; Lambert, Gilles; Civeira, Fernando; Martin, Cesar 分享 收藏
Boosting Cholesterol Efflux from Foam Cells by Sequential Administration of rHDL to Deliver MicroRNA and to Remove Cholesterol in a Triple-Cell 2D Atherosclerosis Model Jebari-Benslaiman, Shifa; Uribe, Kepa B.; Benito-Vicente, Asier; Galicia-Garcia, Unai; Larrea-Sebal, Asier; Santin, Izortze; Alloza, Iraide; Vandenbroeck, Koen; Ostolaza, Helena; Martin, Cesar 分享 收藏
MLb-LDLr A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants Larrea-Sebal, Asier; Benito-Vicente, Asier; Fernandez-Higuero, Jose A.; Jebari-Benslaiman, Shifa; Galicia-Garcia, Unai; Uribe, Kepa B.; Cenarro, Ana; Ostolaza, Helena; Civeira, Fernando; Arrasate, Sonia; Gonzalez-Diaz, Humberto; Martin, Cesar 分享 收藏
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Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR Galicia-Garcia, Unai; Benito-Vicente, Asier; Uribe, Kepa B.; Jebari, Shifa; Larrea-Sebal, Asier; Alonso-Estrada, Rocio; Aguilo-Arce, Joseba; Ostolaza, Helena; Palacios, Lourdes; Martin, Cesar 分享 收藏
The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9 Sanchez-Hernandez, Rosa M.; Di Taranto, Maria Donata; Benito-Vicente, Asier; Uribe, Kepa B.; Lamiquiz-Moneo, Itziar; Larrea-Sebal, Asier; Jebari, Shifa; Galicia-Garcia, Unai; Javier Novoa, F.; Boronat, Mauro; Wagner, Ana M.; Civeira, Fernando; Martin, Cesar; Fortunato, Giuliana 分享 收藏
p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro Benito-Vicente, A.; Siddiqi, H.; Uribe, K. B.; Jebari, S.; Galicia-Garcia, U.; Larrea-Sebal, A.; Stef, M.; Ostolaza, H.; Palacios, L.; Martin, C. 分享 收藏
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