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Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.
Suay-Corredera C, Pricolo MR, Herrero-Galán E, Velázquez-Carreras D, Sánchez-Ortiz D, García-Giustiniani D, Delgado J, Galano-Frutos JJ, García-Cebollada H, Vilches S, Domínguez F, Molina MS, Barriales-Villa R, Frisso G, Sancho J, Serrano L, García-Pavía P, Monserrat L, Alegre-Cebollada J. Suay-Corredera C, et al. Among authors: sanchez ortiz d. J Biol Chem. 2021 Jul;297(1):100854. doi: 10.1016/j.jbc.2021.100854. Epub 2021 Jun 5. J Biol Chem. 2021. PMID: 34097875 Free PMC article.
Nanomechanical Phenotypes in Cardiac Myosin-Binding Protein C Mutants That Cause Hypertrophic Cardiomyopathy.
Suay-Corredera C, Pricolo MR, Velázquez-Carreras D, Pathak D, Nandwani N, Pimenta-Lopes C, Sánchez-Ortiz D, Urrutia-Irazabal I, Vilches S, Dominguez F, Frisso G, Monserrat L, García-Pavía P, de Sancho D, Spudich JA, Ruppel KM, Herrero-Galán E, Alegre-Cebollada J. Suay-Corredera C, et al. Among authors: sanchez ortiz d. ACS Nano. 2021 Jun 22;15(6):10203-10216. doi: 10.1021/acsnano.1c02242. Epub 2021 Jun 1. ACS Nano. 2021. PMID: 34060810 Free PMC article.
The cardiomyopathy of cystic fibrosis: a modern form of Keshan disease.
Segovia-Cubero J, Ruiz-Bautista L, Maiz-Carro L, Girón-Moreno RM, Prados-Sánchez MC, Martínez-Martínez MT, González-Estecha M, Mingo-Santos S, Gómez-Bueno M, Salas-Antón C, Cavero-Gibanel MA, Pastrana-Ledesma M, García-Pavía P, Laporta-Hernández R, Sánchez-Ortiz D, Alonso-Pulpón L. Segovia-Cubero J, et al. Among authors: sanchez ortiz d. Front Cardiovasc Med. 2024 Feb 1;11:1285223. doi: 10.3389/fcvm.2024.1285223. eCollection 2024. Front Cardiovasc Med. 2024. PMID: 38361580 Free PMC article.