Protein Thermodynamic Destabilization in the Assessment of Pathogenicity of a Variant of Uncertain Significance in Cardiac Myosin Binding Protein C-Reference-Cited by-同舟云学术

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Protein Thermodynamic Destabilization in the Assessment of Pathogenicity of a Variant of Uncertain Significance in Cardiac Myosin Binding Protein C

Published:2020-02-07 Issue:5 Volume:13 Page:867-877
ISSN:1937-5387
Container-title:Journal of Cardiovascular Translational Research
language:en
Short-container-title:J. of Cardiovasc. Trans. Res.

Author:

Pricolo Maria Rosaria^ORCID,Herrero-Galán Elías,Mazzaccara Cristina,Losi Maria Angela,Alegre-Cebollada Jorge,Frisso Giulia

Funder

Ministerio de Ciencia, Innovación y Universidades

European Research Area Network on Cardiovascular Diseases

Comunidad de Madrid

CNIC-Severo Ochoa intramural grant program

Ministero dell’Istruzione, dell’Università e della Ricerca

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Cardiology and Cardiovascular Medicine,Pharmaceutical Science,Genetics,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12265-020-09959-6.pdf

Reference60 articles.

1. Maron, B. J., Gardin, J. M., Flack, J. M., Gidding, S. S., Kurosaki, T. T., & Bild, D. E. (1995). Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Circulation, 92(4), 785–789. https://doi.org/10.1161/01.CIR.92.4.785.

2. Semsarian, C., Ingles, J., Maron, M. S., & Maron, B. J. (2015). New perspectives on the prevalence of hypertrophic cardiomyopathy. Journal of the American College of Cardiology, 65(12), 1249–1254. https://doi.org/10.1016/j.jacc.2015.01.019.

3. Soler, R., Méndez, C., Rodríguez, E., Barriales, R., Ochoa, J. P., & Monserrat, L. (2018). Phenotypes of hypertrophic cardiomyopathy. An illustrative review of MRI findings. Insights into Imaging. https://doi.org/10.1007/s13244-018-0656-8.

4. Wijnker, P. J. M., Sequeira, V., Kuster, D. W. D., & van der Velden, J. (2019). Hypertrophic cardiomyopathy: A vicious cycle triggered by sarcomere mutations and secondary disease hits. Antioxidants & Redox Signaling, 31(4), 318–358. https://doi.org/10.1089/ars.2017.7236.

5. Geske, J. B., Ommen, S. R., & Gersh, B. J. (2018). Hypertrophic cardiomyopathy: Clinical update. JACC: Heart Failure, 6(5), 364–375. https://doi.org/10.1016/j.jchf.2018.02.010.

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