Results 11 to 20 of about 7,387 (194)

AAV9-mediated MYBPC3 gene therapy with optimized expression cassette enhances cardiac function and survival in MYBPC3 cardiomyopathy models

Nature Communications
Hypertrophic cardiomyopathy (HCM) affects approximately 600,000 people in the United States. Loss-of-function mutations in Myosin Binding Protein C3, MYBPC3, are the most common genetic cause of HCM, with the majority of mutations resulting in ...
Amara Greer-Short, Anna Greenwood, Elena C. Leon, Tawny Neal Qureshi, Konor von Kraut, Justin Wong, Jonathan H. Tsui, Christopher A. Reid, Ze Cheng, Emilee Easter, Jin Yang, Jaclyn Ho, Stephanie Steltzer, Ana Budan, Marie Cho, Rishikesan Chandrakumar, Olga Cisne-Thompson, Charles Feathers, Tae Won Chung, Neshel Rodriguez, Samantha Jones, Chris Alleyne-Levy, Jun Liu, Frank Jing, William S. Prince, JianMin Lin, Kathryn N. Ivey, Whittemore G. Tingley, Timothy Hoey, Laura M. Lombardi   +29 more
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Evaluation of a polymorphism in MYBPC3 in patients with anthracycline induced cardiotoxicity

Indian Heart Journal, 2018
Cardiotoxicity is the most serious side effect of anthracyclines (doxorubicin, daunorubicin or epirubicin). The incidence of anthracycline induced late cardiac toxicity (AIC) that is overt clinically is 3–5% in the Indian population.
M. Thirumalai Vinodhini, S. Sneha, R.P. Nagare, S. Bindhya, V. Shetty, D. Manikandan, P. Ganesan, T.G. Sagar, T.S. Ganesan   +8 more
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The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy. [PDF]

PLoS ONE, 2015
AimsMutations in the cardiac myosin-binding protein C gene (MYBPC3) are the most common genetic cause of hypertrophic cardiomyopathy (HCM) worldwide. The molecular mechanisms leading to HCM are poorly understood. We investigated the metabolic profiles of
Benedicte Jørgenrud, Mikko Jalanko, Tiina Heliö, Pertti Jääskeläinen, Mika Laine, Mika Hilvo, Markku S Nieminen, Markku Laakso, Tuulia Hyötyläinen, Matej Orešič, Johanna Kuusisto   +10 more
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Effects of MYBPC3 loss-of-function mutations preceding hypertrophic cardiomyopathy [PDF]

JCI Insight, 2022
Mutations in cardiac myosin binding protein C (MyBP-C, encoded by MYBPC3) are the most common cause of hypertrophic cardiomyopathy (HCM). Most MYBPC3 mutations result in premature termination codons (PTCs) that cause RNA degradation and a reduction of ...
Day, SM, Friedline, S, Smith, ED, Wen, XW, Tang, VT, Arora, A, Liu, AP, Shavit, JA, O’Leary, TS, Previs, MJ, Wauchope, M, Lee, LM, Wasserman, AH, Helms, AS   +13 more
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Oxidative Stress in Dilated Cardiomyopathy Caused by MYBPC3 Mutation [PDF]

Oxidative Medicine and Cellular Longevity, 2015
Cardiomyopathies can result from mutations in genes encoding sarcomere proteins including MYBPC3, which encodes cardiac myosin binding protein-C (cMyBP-C).
Barefield, D. (David), Govindan, S, Remedios, C.D. (Cristobal Dos), Sivaguru, M. (Mayandi), Cardounel, A.J. (Arturo J.), Lynch, T.L. (Thomas L.), Lynch, TL, Michels, Michelle; id_orcid, Cardounel, AJ, Govindan, S. (Suresh), Sivaguru, M, Barefield, D, Sadayappan, S. (Sakthivel), Velayutham, M, Michels, M. (Michelle), Velden, J. (Jolanda) van der, dos Remedios, C, Velayutham, M. (Murugesan), Velden, J, Sadayappan, S   +19 more
core   +6 more sources

Myocardial dysfunction caused by MyBPC3 P459fs mutation in hypertrophic cardiomyopathy: evidence from multi-omics approaches and super-resolution imaging

Frontiers in Cardiovascular Medicine
IntroductionMutations in the sarcomere protein, particularly in cardiac myosin binding protein C gene (MyBPC3), were the most frequent genetic cause of hypertrophic cardiomyopathy (HCM).
Yupeng Wu, Yupeng Wu, Yuzhu Zhang, Yuzhu Zhang, Qirui Zheng, Qirui Zheng, Qiyuan Wang, Qiyuan Wang, Xingyu Fang, Xingyu Fang, Zaihan Zhu, Zaihan Zhu, Jing Lu, Dandan Sun, Dandan Sun   +14 more
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Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy [PDF]

Journal of Biological Chemistry, 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.
García-Pavía P., Pricolo M.R., Herrero-Galán E., Galano-Frutos J.J., Sánchez-Ortiz D., Monserrat L., Delgado J., Domínguez F., Vilches S., García Cebollada H., Suay-Corredera C., Serrano L., Alegre-Cebollada J., García-Giustiniani D., Barriales-Villa R., Velázquez-Carreras D., Sancho Sanz J., Frisso G., Molina M.S.   +18 more
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Targeted Mybpc3 Knock-Out Mice with Cardiac Hypertrophy Exhibit Structural Mitral Valve Abnormalities

Journal of Cardiovascular Development and Disease, 2015
MYBPC3 mutations cause hypertrophic cardiomyopathy, which is frequently associated with mitral valve (MV) pathology. We reasoned that increased MV size is caused by localized growth factors with paracrine effects. We used high-resolution echocardiography
Daniel P. Judge, Hany Neamatalla, Russell A. Norris, Robert A. Levine, Jonathan T. Butcher, Nicolas Vignier, Kevin H. Kang, Quangtung Nguyen, Patrick Bruneval, Marie-Cécile Perier, Emmanuel Messas, Xavier Jeunemaitre, Annemarieke de Vlaming, Roger Markwald, Lucie Carrier, Albert A. Hagège   +15 more
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Activation of autophagy ameliorates cardiomyopathy in Mybpc3-targeted knockin mice [PDF]

Circulation: Heart Failure, 2017
BACKGROUND: Alterations in autophagy have been reported in hypertrophic cardiomyopathy (HCM) caused by Danon disease, Vici syndrome, or LEOPARD syndrome, but not in HCM caused by mutations in genes encoding sarcomeric proteins, which account for most of ...
Silke Reischmann-Düsener, Jeffrey Robbins, Elisabeth Krämer, Charles Redwood, Saskia Schlossarek, Qinghang Meng, Maksymilian Prondzynski, Hanna Osinska, Lucie Carrier, Antonia T.L. Zech, Sonia R. Singh, Birgit Geertz, Jolanda van der Velden   +12 more
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Novel MYBPC3 Mutations in Indian Population with Cardiomyopathies

Pharmacogenomics and Personalized Medicine, 2023
Deepa Selvi Rani,1 Apoorva Kasala,1 Perundurai S Dhandapany,2 Uthiralingam Muthusami,3 Sreejith Kunnoth,3 Andiappan Rathinavel,4 Dharma Rakshak Ayapati,5 Kumarasamy Thangaraj1,6 1Department of Population and Medical Genomics, CSIR-Centre for Cellular and
Rani DS, Kasala A, Dhandapany PS, Muthusami U, Kunnoth S, Rathinavel A, Ayapati DR, Thangaraj K   +7 more
doaj   +3 more sources