Therapeutic approaches to genetic ion channelopathies and perspectives in drug discovery

P Imbrici, A Liantonio, GM Camerino… - Frontiers in …, 2016 - frontiersin.org
In the human genome more than 400 genes encode ion channels, which are
transmembrane proteins mediating ion fluxes across membranes. Being expressed in all …

Sudden cardiac death: an update

J Isbister, C Semsarian - Internal medicine journal, 2019 - Wiley Online Library
Sudden cardiac death (SCD) is a devastating and all too common result of both acquired
and genetic heart diseases. The profound sadness endured by families is compounded by …

Human induced pluripotent stem cells as a platform for personalized and precision cardiovascular medicine

E Matsa, JH Ahrens, JC Wu - Physiological Reviews, 2016 - journals.physiology.org
Human induced pluripotent stem cells (hiPSCs) have revolutionized the field of human
disease modeling, with an enormous potential to serve as paradigm shifting platforms for …

Deep Mutational Scan of an SCN5A Voltage Sensor

AM Glazer, BM Kroncke, KA Matreyek… - Circulation: Genomic …, 2020 - Am Heart Assoc
Background: Variants in ion channel genes have classically been studied in low throughput
by patch clamping. Deep mutational scanning is a complementary approach that can …

Human iPSCs and genome editing technologies for precision cardiovascular tissue engineering

EKN Gähwiler, SE Motta, M Martin… - Frontiers in Cell and …, 2021 - frontiersin.org
Induced pluripotent stem cells (iPSCs) originate from the reprogramming of adult somatic
cells using four Yamanaka transcription factors. Since their discovery, the stem cell (SC) field …

Molecular autopsy for sudden death in the young: is data aggregation the key?

M Rueda, JL Wagner, TC Phillips, SE Topol… - Frontiers in …, 2017 - frontiersin.org
The Scripps molecular autopsy study seeks to incorporate genetic testing into the
postmortem examination of cases of sudden death in the young (< 45 years old). Here, we …

Improving interpretation of cardiac phenotypes and enhancing discovery with expanded knowledge in the Gene Ontology

RC Lovering, P Roncaglia, DG Howe… - Circulation: Genomic …, 2018 - Am Heart Assoc
Background: A systems biology approach to cardiac physiology requires a comprehensive
representation of how coordinated processes operate in the heart, as well as the ability to …

Anatomopathological changes of the cardiac conduction system in sudden cardiac death, particularly in infants: advances over the last 25 years

G Ottaviani, LM Buja - Cardiovascular Pathology, 2016 - Elsevier
Sudden cardiac death (SCD) is defined as the unexpected death without an obvious
noncardiac cause that occurs within 1 h of witnessed symptom onset (established SCD) or …

Short QT syndrome in pediatrics

R Pereira, O Campuzano, G Sarquella-Brugada… - Clinical Research in …, 2017 - Springer
Short QT syndrome is a malignant cardiac disease characterized by the presence of
ventricular tachyarrhythmias leading to syncope and sudden cardiac death. Currently …

Evaluation and Management of Athletes With Long QT Syndrome: An Evolved Paradigm

AT Gomez, JM Prutkin, AL Rao - Sports health, 2016 - journals.sagepub.com
Context: The congenital long QT syndrome (LQTS) is an inherited channelopathy known for
its electrocardiographic manifestations of QT prolongation and its hallmark arrhythmia …