MicroRNAs in cardiac diseases

RMW Colpaert, M Calore - Cells, 2019 - mdpi.com
Since their discovery 20 years ago, microRNAs have been related to posttranscriptional
regulation of gene expression in major cardiac physiological and pathological processes …

Animal models to study cardiac arrhythmias

DJ Blackwell, J Schmeckpeper… - Circulation research, 2022 - Am Heart Assoc
Cardiac arrhythmias are a significant cause of morbidity and mortality worldwide, accounting
for 10% to 15% of all deaths. Although most arrhythmias are due to acquired heart disease …

Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations

F Girolami, CY Ho, C Semsarian, M Baldi… - Journal of the American …, 2010 - jacc.org
Objectives: The aim of this study was to describe the clinical profile associated with triple
sarcomere gene mutations in a large hypertrophic cardiomyopathy (HCM) cohort …

Individualized interactomes for network-based precision medicine in hypertrophic cardiomyopathy with implications for other clinical pathophenotypes

BA Maron, RS Wang, S Shevtsov, SG Drakos… - Nature …, 2021 - nature.com
Progress in precision medicine is limited by insufficient knowledge of transcriptomic or
proteomic features in involved tissues that define pathobiological differences between …

Multiple gene variants in hypertrophic cardiomyopathy in the era of next-generation sequencing

C Burns, RD Bagnall, L Lam… - Circulation …, 2017 - Am Heart Assoc
Background—Multiple likely pathogenic/pathogenic (LP/P;≥ 2) variants in patients with
hypertrophic cardiomyopathy were described 10 years ago with a prevalence of 5%. We …

Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors

BJ Maron, MS Maron, C Semsarian - Heart rhythm, 2012 - Elsevier
BACKGROUND: Risk stratification strategies employing sarcomere gene mutational
analysis have proved imprecise in identifying high-risk patients with hypertrophic …

Multiple mutations in genetic cardiovascular disease: a marker of disease severity?

M Kelly, C Semsarian - Circulation: Cardiovascular Genetics, 2009 - Am Heart Assoc
Over the last 2 decades, major advances have been made in our identification and
understanding of the genetic basis of cardiovascular disease. More than 40 cardiovascular …

Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies

B Meder, J Haas, A Keller, C Heid, S Just… - Circulation …, 2011 - Am Heart Assoc
Background—Today, mutations in more than 30 different genes have been found to cause
inherited cardiomyopathies, some associated with very poor prognosis. However, because …

Junctophilin-2 expression silencing causes cardiocyte hypertrophy and abnormal intracellular calcium-handling

AP Landstrom, CA Kellen, SS Dixit… - Circulation: Heart …, 2011 - Am Heart Assoc
Background—Junctophilin-2 (JPH2), a protein expressed in the junctional membrane
complex, is necessary for proper intracellular calcium (Ca2+) signaling in cardiac myocytes …

NKX2–5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD)

SM Reamon‐Buettner, J Borlak - Human mutation, 2010 - Wiley Online Library
Congenital heart disease (CHD) is among the most prevalent and fatal of all birth defects.
Deciphering its causes, however, is complicated, as many patients affected by CHD have no …