Results 51 to 60 of about 7,387 (194)

Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency. [PDF]

, 2009
RATIONALE: Most sarcomere gene mutations that cause hypertrophic cardiomyopathy are missense alleles that encode dominant negative proteins. The potential exceptions are mutations in the MYBPC3 gene (encoding cardiac myosin-binding protein-C [MyBP-C ...
Watkins, H, Copeland, O, Tsang, V, Redwood, C, Jacques, A, Marston, S, McKenna, WJ, Carballo, S, Livesey, K, Jalilzadeh, S   +9 more
core   +1 more source

Long-Term Prevalence of Systolic Dysfunction in MYBPC3 Versus MYH7-Related Hypertrophic Cardiomyopathy

, 2023
BACKGROUND: The 2 sarcomere genes most commonly associated with hypertrophic cardiomyopathy (HCM), MYBPC3 (myosin-binding protein C3) and MYH7 (β-myosin heavy chain), are indistinguishable at presentation, and genotype-phenotype correlations have been ...
Fumagalli C., Fedele E., Mazzarotto F., Tofani L., Bertaccini B., Poggesi C., Beltrami M., Girolami F., Coppini R., Ferrantini C., Olivotto I., Raffaele Coppini, Bruno Bertaccini, Coppini, Raffaele, Bertaccini, Bruno, Mazzarotto, Francesco, Iacopo Olivotto, Ferrantini, Cecilia, Tofani, Lorenzo, Carlo Fumagalli, Francesca Girolami, Beltrami, Matteo, Elisa Fedele, Corrado Poggesi, Lorenzo Tofani, Matteo Beltrami, Francesco Mazzarotto, Fumagalli, Carlo, Cecilia Ferrantini, Girolami, Francesca, Poggesi, Corrado, Olivotto, Iacopo   +31 more
core   +1 more source

G3BP1 Succinylation at K413 is Critical for Cardiac Function by Modulating PI3K-AKT-mTOR Signal Axis. [PDF]

Adv Sci (Weinh)
Schematic illustrating the impact of G3BP1 succinylation at K413 on cardiac function. In the healthy human heart, G3BP1 succinylation maintains homeostatic mTOR signaling. In patients with dilated cardiomyopathy (DCM) and heart failure (HF), G3BP1 de‐succinylation induces RagA expression and disrupts the binding of the TSC1/2 complex, leading to the ...
Zhang Y, Yao C, Chen Y, Cai K, Lu Z, Wu B, Yu K, Shi Y, Zhao J, Zhou X.   +9 more
europepmc   +2 more sources

Haploinsufficiency of MYBPC3 exacerbates the development of hypertrophic cardiomyopathy in heterozygous mice [PDF]

Journal of Molecular and Cellular Cardiology, 2015
Mutations in MYBPC3, the gene encoding cardiac myosin binding protein-C (cMyBP-C), account for ~40% of hypertrophic cardiomyopathy (HCM) cases. Most pathological MYBPC3 mutations encode truncated protein products not found in tissue. Reduced protein levels occur in symptomatic heterozygous human HCM carriers, suggesting haploinsufficiency as an ...
David, Barefield, Mohit, Kumar, Joshua, Gorham, Jonathan G, Seidman, Christine E, Seidman, Pieter P, de Tombe, Sakthivel, Sadayappan   +6 more
openaire   +2 more sources

The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes

Diagnostics, 2022
Hypertrophic cardiomyopathy (HCM) is a primary disease of the myocardium most commonly caused by mutations in sarcomeric genes. We aimed to perform a nationwide large-scale genetic analysis of a previously unreported, representative HCM cohort in Hungary.
Róbert Sepp, Lidia Hategan, Beáta Csányi, János Borbás, Annamária Tringer, Eszter Dalma Pálinkás, Viktória Nagy, Hedvig Takács, Dóra Latinovics, Noémi Nyolczas, Attila Pálinkás, Réka Faludi, Miklós Rábai, Gábor Tamás Szabó, Dániel Czuriga, László Balogh, Róbert Halmosi, Attila Borbély, Tamás Habon, Zoltán Hegedűs, István Nagy   +20 more
doaj   +1 more source

Clinical outcome of hypertrophic cardiomyopathy in probands with the founder variant c.913_914del in in MYBPC3 [PDF]

Hypertrophic cardiomyopathy is often caused by pathogenic MYBPC3 variants. The study of Italian patients with HCM and MYBPC3(NM_000256.3):c.913_914del showed a higher disease penetrance in males and a higher frequency of arrhythmias compared to patients ...
Vodnjov, Nina, Maver, Aleš, Toplišek, Janez, Writzl, Karin, Teran, Nataša, Peterlin, Borut   +5 more
core   +1 more source

Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations

, 2014
Mutations in the MYBPC3 gene, encoding cardiac myosin binding protein C (cMyBP-C) are frequent causes of hypertrophic cardiomyopathy (HCM). Previously, we have presented evidence for reduced cMyBP-C expression (haploinsufficiency), in patients with a ...
van Dijk, S.J., Heymans, M.W., Michels, M., Boontje, NM, van Slegtenhorst, M.A., van der Velden, J., Dooijes, D., ten Cate, F.J., Heymans, MW, Boontje, N.M., Stienen, G.J.M., van Dijk, SJ, dos Remedios, C, van Slegtenhorst, Marjon, dos Remedios, C., Michels, Michelle; id_orcid, Dooijes, D, ten Cate, Folkert, Stienen, GJM, Velden, J   +19 more
core   +1 more source

Contractile deficits in engineered cardiac microtissues as a result of MYBPC3 deficiency and mechanical overload [PDF]

, 2018
The integration of in vitro cardiac tissue models, human induced pluripotent stem cells (hiPSCs) and genome-editing tools allows for the enhanced interrogation of physiological phenotypes and recapitulation of disease pathologies.
Huebsch, Nathaniel, Mandegar, Mohammad A, Koo, Sangmo, Siemons, Brian, Conklin, Bruce R, Boggess, Steven, Ma, Zhen, Healy, Kevin E, Grigoropoulos, Costas P   +8 more
core   +1 more source

Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology [PDF]

Gene, 2015
More than 350 individual MYPBC3 mutations have been identified in patients with inherited hypertrophic cardiomyopathy (HCM), thus representing 40–50% of all HCM mutations, making it the most frequently mutated gene in HCM. HCM is considered a disease of the sarcomere and is characterized by left ventricular hypertrophy, myocyte disarray and diastolic ...
Lucie, Carrier, Giulia, Mearini, Konstantina, Stathopoulou, Friederike, Cuello   +3 more
openaire   +2 more sources

Family clinical case report of a MYBPC3 gene sequence variant with diverse phenotypic expressions

Рациональная фармакотерапия в кардиологии
In recent years, the results of numerous scientific studies have shifted the focus from phenotypic traits to genotype as the basis for the modern classification of primary cardiomyopathies (CMP).
D. A. Nefedova, R. P. Myasnikov, O. V. Kulikova, A. V. Kiseleva, A. N. Meshkov, E. V. Gagarina, E. A. Mershina, O. M. Drapkina   +7 more
doaj   +1 more source