Results 71 to 80 of about 310,703 (307)

F‐Box and Leucine‐Rich Repeat Protein 4 (FBXL4) Maintains Sarcomere Integrity and Cardiac Function by Enhancing K48‐Linked Ubiquitinated Degradation of Profilin‐1 (PFN1)

Advanced Science, EarlyView.
Schematic diagram depicting the proposed signaling mechanisms underlying the effects of FBXL4 in the setting of cardiac hypertrophy. Under hypertrophic stimulation, cardiomyocytes‐specific overexpression FBXL4 maintains sarcomere integrity and cardiac function by enhancing K48‐linked ubiquitinated degradation of PFN1 at the K70 site.
Xingda Li, Xueqi He, Xinyuan Hao, Yu Zhang, Xin Zhao, Shuang Wang, Zhenru Wang, Haonan Du, Hongda Li, Lian Yi, Zhimin Du, Weijie Du   +11 more
wiley   +1 more source

Apical Hypertrophic Cardiomyopathy: The Variant Less Known

Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease, 2020
H ypertrophic cardiomyopathy (HCM) is an umbrella term for a heterogeneous heart muscle disease that was historically (and still is) defined by the detection of left ventricular (LV) hypertrophy (LVH) in the absence of abnormal cardiac loading conditions.
R. Hughes, K. Knott, J. Malcolmson, J. Augusto, Saidi A Mohiddin, P. Kellman, J. Moon, G. Captur   +7 more
semanticscholar   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

A review of the molecular mechanisms underlying the development and progression of cardiac remodeling [PDF]

, 2017
Pathological molecular mechanisms involved in myocardial remodeling contribute to alter the existing structure of the heart, leading to cardiac dysfunction.
Angelini, Francesco, Bordin, Antonella, Carrizzo, Albino, Chimenti, Isotta, DE FALCO, Elena, Forte, Maurizio, Frati, Giacomo, Nocella, Cristina, Pagano, Francesca, Palmerio, Silvia, Schiavon, Sonia, Schirone, Leonardo, Sciarretta, Sebastiano, Valenti, Valentina, Vecchione, Carmine, Yee, Derek   +15 more
core   +6 more sources

Real‐World Observations in Patients With Obstructive Hypertrophic Cardiomyopathy Treated With Mavacamten: Evidence of Favorable Disease Modification

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Mavacamten is commercially approved for use in symptomatic patients with obstructive hypertrophic cardiomyopathy. This study evaluated its real‐world impact on symptoms, echocardiographic changes, and the need for septal reduction therapy in ...
Milind Y. Desai, Andrew Gaballa, Yuichiro Okushi, Mohammed Abusafia, Shada Jadam, Katy Rutkowski, Susan Ospina, Sanaa Sultana, Maran Thamilarasan, Craig Asher, Zoran B. Popovic, Bo Xu   +11 more
doaj   +1 more source

Cardiac evaluation of young athletes: Time for a risk-based approach? [PDF]

, 2020
Pre-participation cardiovascular screening (PPCS) is recommended by several scientific and sporting organizations on the premise that early detection of cardiac disease provides a platform for individualized risk assessment and management; which has been
Drezner, JA, MacLachlan, H
core   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Monomorphic Ventricular Arrhythmias in Athletes. [PDF]

, 2019
Ventricular arrhythmias are challenging to manage in athletes with concern for an elevated risk of sudden cardiac death (SCD) during sports competition. Monomorphic ventricular arrhythmias (MMVA), while often benign in athletes with a structurally normal
Aboulhosn, Jamil A, Boyle, Noel G, Bradfield, Jason S, Dave, Ravi H, Horwich, Tamara B, Hsu, Jeffrey J, Nsair, Ali, Shannon, Kevin M, Shivkumar, Kalyanam   +8 more
core   +2 more sources

Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy

Circulation Genomic and Precision Medicine, 2020
Supplemental Digital Content is available in the text. Background: Pathogenic variants in MYBPC3, encoding cardiac MyBP-C (myosin binding protein C), are the most common cause of familial hypertrophic cardiomyopathy.
A. Helms, A. Thompson, Amelia A. Glazier, Neha Hafeez, Samat Kabani, Juliani Rodriguez, Jaime M. Yob, H. Woolcock, F. Mazzarotto, N. Lakdawala, S. Wittekind, A. Pereira, D. Jacoby, S. Colan, E. Ashley, S. Saberi, J. Ware, J. Ingles, C. Semsarian, M. Michels, I. Olivotto, Carolyn Y. Ho, S. Day   +22 more
semanticscholar   +1 more source

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source