... to analyse the effect of NATs on sarcomere properties. RNA ISH and immunofluorescence was performed in iPS-CMs to study the interaction between NATs, TTN mRNA, and splice factor protein RBM20. We found that TTN-AS1-276 was the predominant TTN NAT in the human heart...

... = 95) who died of sudden cardiac death in the young/sudden infant death syndrome. MYO5b-KO mice revealed impaired electric conductance and metabolism, developed sarcomeric disarrangement, heart failure and death with altered mRNA levels for genes involved in sarcomere organization, fatty acid...

... [email protected]. Abstract Aims Myocardial disarray, an early feature of hypertrophic cardiomyopathy (HCM) and a substrate for ventricular arrhythmia, is poorly characterized in pre-hypertrophic sarcomeric variant carriers (SARC+LVH−). Using diffusion tensor cardiac magnetic resonance (DT-CMR) we...

...Florian Funk; Annette Kronenbitter; Katarzyna Hackert; Matthias Oebbeke; Gerhard Klebe; Mareike Barth; Daniel Koch; Joachim P Schmitt Graphical Abstract Graphical Abstract SERCA2a/phospholamban complex Cardiomyocyte calcium cycling Protein kinase A Sarcomere function Ventricular pressure...

...://creativecommons.org/licenses/by-nc/4.0/ ), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact [email protected] Abstract The giant sarcomere protein titin is a major determinant...

...:https://dbpia.nl.go.kr/journals/pages/open_access/funder_policies/chorus/standard_publication_model ) Patients were excluded if they had potentially pathogenic variants in genes encoding non-sarcomere proteins, such as α-galactosidase (GLA), phospholamban (PLN), protein kinase AMP-activated non-catalytic subunit gamma 2...

... remodelling ⁵ and degradation of sarcomeric proteins. ⁶ Unfortunately, antioxidant therapy failed to prevent cardiotoxicity. ^{7 , 8} Prophylactic treatment with β-blockers, angiotensin-converting enzyme inhibitors, or angiotensin II receptor antagonists...

[email protected]. 2019 This article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model ( https://dbpia.nl.go.kr/journals/pages/open_access/funder_policies/chorus/standard_publication_model ) Hypertrophic cardiomyopathy Sarcomere Mutation Watch...

... of infrequent phenotypic expressions in neuromuscular disorders. Cardiomyopathy Hypertrophic Muscular dystrophy Sarcomere Phenotype Genetics Case report Learning point This case highlights the importance of considering additional aetiologies of cardiac disease in the presence of infrequent phenotypic...

... species to another and tightly correlate with the sarcomere length. Differences in crest heights also exist between species; for example, the similar cardiac compartments in cows and humans exhibit higher crests than rodents. Unexpectedly, we found that lateral surface crests establish tight junctional...

... be an intrinsic manifestation of the underlying sarcomere mutation. However, MV morphology is not well characterized in individuals who have inherited disease-causing sarcomere mutations but who have not yet manifest left ventricular hypertrophy (LVH), denoted subclinical HCM. Increased anterior leaflet length...

.../about_us/legal/notices ) Abstract Aims The pathology of heart failure is characterized by poorly contracting and dilated ventricles. At the cellular level, this is associated with lengthening of individual cardiomyocytes and loss of sarcomeres. While it is known that the transcription factor myocyte...

... = 5.0 × 10⁻²²), encoding the alpha-heavy chain subunit of cardiac myosin, an essential sarcomere protein. Approximately 20% of individuals with CoA in Iceland carry this mutation. We show that p.Arg721Trp also associates with other CHDs, in particular bicuspid aortic valve. We have previously...

... arrhythmia. Atrial fibrillation Early onset Genetics Sarcomere Atrial fibrillation (AF) is primarily a disease of the elderly. It has an overall population prevalence of ∼1%, but the prevalence increases markedly with age. ¹ On the other hand, risk estimates of early-onset AF (diagnosed prior...

...Abdelaziz Beqqali; Ilse A.E. Bollen; Torsten B. Rasmussen; Maarten M. van den Hoogenhof; Hanneke W.M. van Deutekom; Sebastian Schafer; Jan Haas; Benjamin Meder; Keld E. Sørensen; Ralph J. van Oort; Jens Mogensen; Norbert Hubner; Esther E. Creemers; Jolanda van der Velden; Yigal M. Pinto Sarcomere...

... that profilin localized to the Z-line of Drosophila myofibrils under normal conditions and accumulated near the M-line when overexpressed. Elevated profilin levels resulted in elongated sarcomeres, myofibrillar disorganization, and sarcomeric disarray, which correlated with impaired muscle function...

... is a chimeric index because it is the ratio between SV – which measures function, and EDV – which measures form. In SHF the LV dilates when sarcomere addition in series increases cardiac myocyte length, whereas sarcomere addition in parallel can cause concentric hypertrophy in DHF by increasing myocyte...

.... Further we investigated PAD isoform cell-specific expression in the heart. Methods and results A citrullination-targeted proteomic strategy using data-independent (SWATH) acquisition method was used to identify the modified cardiac proteins. Citrullinated-induced sarcomeric proteins were validated...

...), N-WASP (1 : 25; Santa Cruz D15, #sc-10122), cypher [1 : 100; ³² CapZ β1 (5 μg/mL; Developmental Studies Hybridoma Bank, University of Iowa, Iowa, IA, USA (DSHB), #1E5.25.4], sarcomeric α-actinin (1 : 500; Sigma-Aldrich #A7811), desmin (1 : 80; Abcam #ab8592), filamin C (1 : 1000; kindly...

... activation and can culminate in heart failure if left untreated. ¹ These stress stimuli can trigger multiple intracellular signalling pathways that target pro-growth genes to induce cardiomyocyte growth. ² Accumulating evidence suggests that sarcomeric signalling complexes play...