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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: vilches s. 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: vilches s. 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.
Natural History of MYH7-Related Dilated Cardiomyopathy.
de Frutos F, Ochoa JP, Navarro-Peñalver M, Baas A, Bjerre JV, Zorio E, Méndez I, Lorca R, Verdonschot JAJ, García-Granja PE, Bilinska Z, Fatkin D, Fuentes-Cañamero ME, García-Pinilla JM, García-Álvarez MI, Girolami F, Barriales-Villa R, Díez-López C, Lopes LR, Wahbi K, García-Álvarez A, Rodríguez-Sánchez I, Rekondo-Olaetxea J, Rodríguez-Palomares JF, Gallego-Delgado M, Meder B, Kubanek M, Hansen FG, Restrepo-Córdoba MA, Palomino-Doza J, Ruiz-Guerrero L, Sarquella-Brugada G, Perez-Perez AJ, Bermúdez-Jiménez FJ, Ripoll-Vera T, Rasmussen TB, Jansen M, Sabater-Molina M, Elliot PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. de Frutos F, et al. J Am Coll Cardiol. 2022 Oct 11;80(15):1447-1461. doi: 10.1016/j.jacc.2022.07.023. Epub 2022 Aug 22. J Am Coll Cardiol. 2022. PMID: 36007715 Free article.
Systemic embolism in amyloid transthyretin cardiomyopathy.
Vilches S, Fontana M, Gonzalez-Lopez E, Mitrani L, Saturi G, Renju M, Griffin JM, Caponetti A, Gnanasampanthan S, De Los Santos J, Gagliardi C, Rivas A, Dominguez F, Longhi S, Rapezzi C, Maurer MS, Gillmore J, Garcia-Pavia P. Vilches S, et al. Eur J Heart Fail. 2022 Aug;24(8):1387-1396. doi: 10.1002/ejhf.2566. Epub 2022 Jul 11. Eur J Heart Fail. 2022. PMID: 35650018 Free PMC article.
Predictive model of in-hospital mortality in left-sided infective endocarditis.
García-Granja PE, López J, Vilacosta I, Sarriá C, Domínguez F, Ladrón R, Olmos C, Sáez C, Vilches S, García-Arribas D, Cobo-Marcos M, Ramos A, Maroto L, Gómez I, Carrasco M, García-Pavía P, San Román JA. García-Granja PE, et al. Among authors: vilches s. Rev Esp Cardiol (Engl Ed). 2020 Nov;73(11):902-909. doi: 10.1016/j.rec.2019.11.003. Epub 2019 Dec 14. Rev Esp Cardiol (Engl Ed). 2020. PMID: 31848066 Clinical Trial. English, Spanish.
Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males.
Méndez I, Fernández AI, Espinosa MÁ, Cuenca S, Lorca R, Rodríguez JF, Tamargo M, García-Montero M, Gómez C, Vilches S, Vázquez N, Álvarez R, Medrano C, Yotti R, Fernández-Avilés F, Bermejo J. Méndez I, et al. Among authors: vilches s. Open Heart. 2021 Sep;8(2):e001789. doi: 10.1136/openhrt-2021-001789. Open Heart. 2021. PMID: 34588271 Free PMC article.
49 results