Browsing by Author "Sancho, Javier"

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Exploring the complete mutational space of the LDL receptor LA5 domain using molecular dynamics: linking SNPs with disease phenotypes in familial hypercholesterolemia

Espinosa Angarica, Vladimir; Orozco, Modesto; Sancho, Javier (Oxford University Press, 2016)

Familial hypercholesterolemia (FH), a genetic disorder with a prevalence of 0.2%, represents a high-risk factor to develop cardiovascular and cerebrovascular diseases. The majority and most severe FH cases are associated ...
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy

Suay-Corredera, Carmen; Pricolo, Maria Rosaria; Herrero-Galán, Elías; Velázquez-Carreras, Diana; Sánchez-Ortiz, David; García-Giustiniani, Diego; Delgado Blanco, Javier; Galano-Frutos, Juan José; García-Cebollada, Helena; Vilches, Silvia; Domínguez, Fernando; Sabater Molina, María; Barriales-Villa, Roberto; Frisso, Giulia; Sancho, Javier; Serrano Pubull, Luis, 1982-; García-Pavía, Pablo; Monserrat, Lorenzo; Alegre-Cebollada, Jorge (Elsevier, 2021)

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Variants in MYBPC3, the gene encoding cardiac myosin-binding protein C (cMyBP-C), are the leading cause of HCM. However, the pathogenicity ...

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