Results 21 to 30 of about 7,387 (194)

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin [PDF]

Science Translational Medicine, 2019
The mechanisms by which truncating mutations in MYBPC3 (encoding cardiac myosin-binding protein C; cMyBPC) or myosin missense mutations cause hypercontractility and poor relaxation in hypertrophic cardiomyopathy (HCM) are incompletely understood.
Wakimoto, H, Lun, M, Lunde, IG, Seidman, JG, Watkins, Hugh, Toepfer, Christopher N., Gorham, JM, Jiang, J, McNamara, JW, Liao, D, Seidman, CE, Lynch, TL, Garfinkel, AC, Redwood, Charles S., Sadayappan, S, McDonough, B, Tai, AC   +16 more
core   +4 more sources

Investigation of phenotypic rescue of Mybpc3 deficient mouse [PDF]

, 2016
Mutations in the myosin binding protein C gene (MYBPC3) are a frequent cause of hypertrophic cardiomyopathy (HCM) and calcineurin plays a major role in hypertrophic remodelling.
Abou Al Saud, Sara
core   +3 more sources

MYBPC3 deficiency in cardiac fibroblasts drives their activation and contributes to fibrosis

Cell Death and Disease, 2022
Genetic mutations in the MYBPC3 gene encoding cardiac myosin binding protein C (cMyBP-C) are the most common cause of hypertrophic cardiomyopathy (HCM). Myocardial fibrosis (MF) plays a critical role in the development of HCM.
Xiaodong Zou, Hongsheng Ouyang, Feng Lin, Huanyu Zhang, Yang Yang, Daxin Pang, Renzhi Han, Xiaochun Tang   +7 more
doaj   +3 more sources

MYBPC3 D389V Variant Induces Hypercontractility in Cardiac Organoids

Cells
MYBPC3, encoding cardiac myosin binding protein-C (cMyBP-C), is the most mutated gene known to cause hypertrophic cardiomyopathy (HCM). However, since little is known about the underlying etiology, additional in vitro studies are crucial to defining the ...
Darshini Desai, Taejeong Song, Rohit R. Singh, Akhil Baby, James McNamara, Lisa C. Green, Pooneh Nabavizadeh, Mark Ericksen, Sholeh Bazrafshan, Sankar Natesan, Sakthivel Sadayappan   +10 more
doaj   +4 more sources

How do MYBPC3 mutations cause hypertrophic cardiomyopathy?

Journal of Muscle Research and Cell Motility, 2011
It is well established that MYBPC3 mutations are the most common cause of hypertrophic cardiomyopathy, accounting for about half of identified mutations.
Saskia Schlossarek, Katja Gehmlich, Steven Marston, O’Neal Copeland, Lucie Carrrier   +4 more
core   +3 more sources

Single Cell Transcriptomic Profiling of MYBPC3‐Associated Hypertrophic Cardiomyopathy Across Species Reveals Conservation of Biological Process But Not Gene Expression

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Hypertrophic cardiomyopathy (HCM) is a common heritable heart disease where the most frequently associated mutations occur in the myosin‐binding protein C (MYBPC3) sarcomere‐associated gene.
Samia A. Ali, Gayani Perera, Jason Laird, Rebecca Batorsky, Martin S. Maron, Victor N. Rivas, Joshua A. Stern, Samantha Harris, Michael T. Chin   +8 more
doaj   +2 more sources

Lower left ventricular ejection time in MYBPC3 variant carriers with overt or subclinical hypertrophic cardiomyopathy [PDF]

ESC Heart Failure
Aims Hypertrophic cardiomyopathy (HCM) is an inherited cardiomyopathy often caused by pathogenic variants in MYBPC3 and MYH7, encoding myosin‐binding protein C3 and myosin heavy chain 7, respectively.
Isabell Yan, Zoe Möhring, Daniel Reichart, Fanny Kortüm, Julia Münch, Rixa Woitschach, Paulus Kirchhof, Lucie Carrier, Carolyn Y. Ho, Thomas Eschenhagen, Monica Patten   +10 more
doaj   +2 more sources

P5435Epigenetic modifications and gene expressions in Mybpc3 knockout mice

European Heart Journal, 2019
Background DNA methylation and hydroxymethylation plays critical role in important biological processes, including differentiation of tissues in the embryo and cellular response to different diseases and diverse environmental factors.
Hossain, M, Elbeck, Z, Li, X, Esfahani, P, Knoell, R, Siga, H   +5 more
core   +2 more sources

A novel variant in MYBPC3 causes hypertrophic cardiomyopathy by haploinsufficiency.

PLoS ONE
BackgroundFamilial hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease (CVD). Related mutations contributing to hypercontractility and poor relaxation in HCM are not completely understood.PurposeThis study aimed to explore
Yuanyuan Zhang, Wenyan Gong, Yusheng Cong, Xingwei Zhang, Zhelan Zheng   +4 more
doaj   +4 more sources

Genetic Insights Into Cardiomyopathy With Restrictive Phenotype: Implications for Diagnosis and Personalized Care. [PDF]

Mol Genet Genomic Med
Among 568 patients with cardiomyopathy, 33 exhibited a restrictive phenotype, including 7 with RCM, 20 with HRCM, and 6 with HDRCM. Pathogenic or likely pathogenic variants were identified in 24 patients (72.7%). Variant carriers had a smaller aortic sinus diameter than non‐carriers (30.79 ± 3.48 vs.
Zhou N, Sun Y, Wei X, Liang W, Meng F, Ge Z, Sun M, Cui X, Zhang S, Pan C, Ge J, Shu X.   +11 more
europepmc   +2 more sources