Results 61 to 70 of about 580,532 (393)

Insights into pegRNA design from editing of the cardiomyopathy‐associated phospholamban R14del mutation

FEBS Letters, EarlyView.
This study reveals how prime editing guide RNA (pegRNA) secondary structure and reverse transcriptase template length affect prime editing efficiency in correcting the phospholamban R14del cardiomyopathy‐associated mutation. Insights support the design of structurally optimized enhanced pegRNAs for precise gene therapy.
Bing Yao, Qiangbing Yang, Christian J.B. Snijders Blok, Mark A. Daniels, Pieter A. Doevendans, Raymond Schiffelers, Joost P.G. Sluijter, Zhiyong Lei   +7 more
wiley   +1 more source

Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study.

European Heart Journal-Cardiovascular Imaging, 2019
AIMS Myocardial scar detected by cardiovascular magnetic resonance has been associated with sudden cardiac death in dilated cardiomyopathy (DCM). Certain genetic causes of DCM may cause a malignant arrhythmogenic phenotype. The concepts of arrhythmogenic
J. Augusto, R. Eiros, E. Nakou, Sara Moura-Ferreira, T. Treibel, G. Captur, M. Akhtar, A. Protonotarios, T. Gossios, K. Savvatis, P. Syrris, Saidi A Mohiddin, J. Moon, P. Elliott, L. Lopes   +14 more
semanticscholar   +1 more source

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. [PDF]

, 2015
Background: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder characterized by unexplained left ventricle hypertrophy associated with non-dilated ventricular chambers.
BOTTILLO, IRENE, CAPUTO, VIVIANA, Castori, M, D'ANGELANTONIO, DANIELA, De Bernardo, C, Giannarelli, D, GRAMMATICO, Paola, LIPARI, MARTINA, Majore, S, PAIARDINI, ALESSANDRO, PIZZUTI, Antonio, Re, F, Zachara, E   +12 more
core   +1 more source

Nanoscale Curvature Regulates YAP/TAZ Nuclear Localization Through Nuclear Deformation and Rupture

Advanced Science, EarlyView.
This study uses experiments and biophysical modeling to examine the response and adaptation of cells to nanoscale topography of surfaces. It is shown that cytoskeletal assembly and nuclear localization of transcription regulatory factors such as yes‐associated protein (YAP) and transcriptional coactivator with PDZ‐binding motif (TAZ) can be tuned by ...
Emmet A. Francis, Einollah Sarikhani, Vrund Patel, Dhivya Pushpa Meganathan, Leah Sadr, Anum Tahir, Zeinab Jahed, Padmini Rangamani   +7 more
wiley   +1 more source

Activation of PDGF Pathway Links LMNA Mutation to Dilated Cardiomyopathy

Nature, 2019
Lamin A/C (LMNA) is one of the most frequently mutated genes associated with dilated cardiomyopathy (DCM). DCM related to mutations in LMNA is a common inherited cardiomyopathy that is associated with systolic dysfunction and cardiac arrhythmias. Here we
Jaecheol Lee, Vittavat Termglinchan, S. Diecke, Ilanit Itzhaki, C. Lam, Priyanka Garg, E. Lau, Matthew Greenhaw, T. Seeger, Haodi Wu, Joe Z. Zhang, Xingqi Chen, I. P. Gil, M. Ameen, Karim Sallam, J. Rhee, Jared M. Churko, Rinkal Chaudhary, Tony Chour, Paul Wang, M. Snyder, Howard Y. Chang, I. Karakikes, Joseph C. Wu   +23 more
semanticscholar   +1 more source

Risk Stratification for Sudden Cardiac Death In Patients With Non-ischemic Dilated Cardiomyopathy [PDF]

, 2005
Non ischemic dilated cardiomyopathy (NIDCM) is a disorder of myocardium. It has varying etiologies. Albeit the varying etiologies of this heart muscle disorder, it presents with symptoms of heart failure, and rarely as sudden cardiac death (SCD ...
Ghosh, Joydeep, Greenberg, Yisachar, Shekha, Karthik, Thekkoott, Deepak   +3 more
core   +1 more source

Irisin Attenuates Pulmonary Vascular Remodeling in Pulmonary Arterial Hypertension via Ubiquitin‐Mediated Regulation of ENO1

Advanced Science, EarlyView.
Irisin is a crucial plasma biomarker and promising therapeutic target that reflects disease severity, pulmonary vascular remodeling status and clinical outcome in patients with pulmonary arterial hypertension (PAH). As a novel protective factor, irisin is downregulated in PAH. By ubiquitination, irisin promotes Enolase 1 degradation and suppresses cell
Na Sun, Yong‐Bing Wang, Jing Huang, Run‐Wei Deng, Hui‐Yu He, Lei Gao, Xuan Gao, You‐Li Fan, Yan Cong, Yao‐Lei Guo, Yi‐Qiang Chen, Gui‐Jia Wang, Shao‐Hong Fang, Xia Gu, Bo Yu, Bing‐Xiang Wu   +15 more
wiley   +1 more source

Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2020
Background Dilated cardiomyopathy may be heritable but shows extensive genetic heterogeneity. The utility of whole exome sequencing as a first‐line genetic test for patients with dilated cardiomyopathy in a contemporary “real‐world” setting has not been ...
Jay Ramchand, Mathew Wallis, Ivan Macciocca, Elly Lynch, Omar Farouque, Melissa Martyn, Dean Phelan, Belinda Chong, Siobhan Lockwood, Robert Weintraub, Tina Thompson, Alison Trainer, Dominica Zentner, Jitendra Vohra, Michael Chetrit, David L. Hare, Paul James   +16 more
doaj   +1 more source

Dilated cardiomyopathy in childhood [PDF]

, 2000
Dilated Cardiomyopathy is an uncommon disease in children but morbidity and mortality in affected patients are high. This review discuses clinical presentation, diagnosis, medical management and prognosis of the condition, with an emphasis on recent ...
Franklin, O.M.
core  

Left ventricular non-compaction: clinical features and cardiovascular magnetic resonance imaging [PDF]

, 2009
Background: It is apparent that despite lack of family history, patients with the morphological characteristics of left ventricular non-compaction develop arrhythmias, thrombo-embolism and left ventricular dysfunction.
A Keren, A Varghese, C Lofiego, D Chin, E Zambrano, EN Oechslin, F Ichida, Francisco Leyva, G Junga, G Tamborini, Harald Sandman, J Dusek, JA McCrohon, Kayvan Khadjooi, KC Patel, LW Eurlings, M Ritter, Noor UH Mohammed, Paul WX Foley, R Jenni, R Jenni, R Soler, RF Duncan, RG Assomull, RM Lang, RM Lauer, RT Murphy, S Pujadas, SE Petersen, Shajil Chalil, VMC Salemi, Y Daimon, Zaheer R Yousef   +32 more
core   +5 more sources