Cardiac myosin contraction and mechanotransduction in health and disease

SK Barrick, MJ Greenberg - Journal of Biological Chemistry, 2021 - ASBMB
Cardiac myosin is the molecular motor that powers heart contraction by converting chemical
energy from ATP hydrolysis into mechanical force. The power output of the heart is tightly …

Pharmacologic approach to sinoatrial node dysfunction

P Mesirca, VV Fedorov, TJ Hund… - Annual review of …, 2021 - annualreviews.org
The spontaneous activity of the sinoatrial node initiates the heartbeat. Sino-atrial node
dysfunction (SND) and sick sinoatrial (sick sinus) syndrome are caused by the heart's …

Early-onset atrial fibrillation and the prevalence of rare variants in cardiomyopathy and arrhythmia genes

ZT Yoneda, KC Anderson, JA Quintana… - JAMA …, 2021 - jamanetwork.com
Importance Early-onset atrial fibrillation (AF) can be the initial manifestation of a more
serious underlying inherited cardiomyopathy or arrhythmia syndrome. Objective To examine …

Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes

AM Deaton, MM Parker, LD Ward, AO Flynn-Carroll… - Scientific reports, 2021 - nature.com
Sequencing of large cohorts offers an unprecedented opportunity to identify rare genetic
variants and to find novel contributors to human disease. We used gene-based collapsing …

Association of rare genetic variants and early-onset atrial fibrillation in ethnic minority individuals

B Chalazan, D Mol, FA Darbar… - JAMA …, 2021 - jamanetwork.com
Importance Although rare variants in cardiac ion channels, transcription factors, and
myocardial structural proteins are associated with early-onset atrial fibrillation (AF) in White …

Genetic insight into sick sinus syndrome

RB Thorolfsdottir, G Sveinbjornsson… - European heart …, 2021 - academic.oup.com
Aims The aim of this study was to use human genetics to investigate the pathogenesis of
sick sinus syndrome (SSS) and the role of risk factors in its development. Methods and …

Genetic complexity of sinoatrial node dysfunction

MJ Wallace, M El Refaey, P Mesirca, TJ Hund… - Frontiers in …, 2021 - frontiersin.org
The pacemaker cells of the cardiac sinoatrial node (SAN) are essential for normal cardiac
automaticity. Dysfunction in cardiac pacemaking results in human sinoatrial node …

Genetics of atrial fibrillation—practical applications for clinical management: if not now, when and how?

S Kany, B Reissmann, A Metzner… - Cardiovascular …, 2021 - academic.oup.com
The prevalence and economic burden of atrial fibrillation (AF) are predicted to more than
double over the next few decades. In addition to anticoagulation and treatment of …

Genomic and physiological analyses of the zebrafish atrioventricular canal reveal molecular building blocks of the secondary pacemaker region

K Abu Nahia, M Migdał, TA Quinn, KL Poon… - Cellular and Molecular …, 2021 - Springer
The atrioventricular canal (AVC) is the site where key structures responsible for functional
division between heart regions are established, most importantly, the atrioventricular (AV) …

Young and early‐onset dilated cardiomyopathy with malignant ventricular arrhythmia and sudden cardiac death induced by the heterozygous LDB3, MYH6, and …

T Zhao, Y Ma, Z Zhang, J Xian, X Geng… - Annals of …, 2021 - Wiley Online Library
Background The whole exome sequencing (WES) with targeted gene analysis is an effective
diagnostic tool for cardiomyopathy. The early‐onset sudden cardiac death (SCD) was …