Genetics of sudden cardiac death
CR Bezzina, N Lahrouchi, SG Priori - Circulation research, 2015 - Am Heart Assoc
Sudden cardiac death occurs in a broad spectrum of cardiac pathologies and is an important
cause of mortality in the general population. Genetic studies conducted during the past 20 …
cause of mortality in the general population. Genetic studies conducted during the past 20 …
The intercalated disc: a unique organelle for electromechanical synchrony in cardiomyocytes
MS Nielsen, CJM van Opbergen… - Physiological …, 2023 - journals.physiology.org
The intercalated disc (ID) is a highly specialized structure that connects cardiomyocytes via
mechanical and electrical junctions. Although described in some detail by light microscopy …
mechanical and electrical junctions. Although described in some detail by light microscopy …
Refining the molecular organization of the cardiac intercalated disc
SH Vermij, H Abriel, TAB van Veen - Cardiovascular research, 2017 - academic.oup.com
This review presents an extensively integrated model of the cardiac intercalated disc (ID), a
highly orchestrated structure that connects adjacent cardiomyocytes. Classically, three main …
highly orchestrated structure that connects adjacent cardiomyocytes. Classically, three main …
Misinterpretation of the mouse ECG: 'musing the waves of Mus musculus'
BJ Boukens, MR Rivaud, S Rentschler… - The Journal of …, 2014 - Wiley Online Library
The ECG is a primary diagnostic tool in patients suffering from heart disease, underscoring
the importance of understanding factors contributing to normal and abnormal electrical …
the importance of understanding factors contributing to normal and abnormal electrical …
Heritable arrhythmia syndromes associated with abnormal cardiac sodium channel function: ionic and non-ionic mechanisms
The cardiac sodium channel NaV1. 5, encoded by the SCN5A gene, is responsible for the
fast upstroke of the action potential. Mutations in SCN5A may cause sodium channel …
fast upstroke of the action potential. Mutations in SCN5A may cause sodium channel …
[HTML][HTML] Arrhythmogenic cardiomyopathy and Brugada syndrome: diseases of the connexome
E Agullo-Pascual, M Cerrone, M Delmar - FEBS letters, 2014 - Elsevier
This review summarizes data in support of the notion that the cardiac intercalated disc is the
host of a protein interacting network, called “the connexome”, where molecules classically …
host of a protein interacting network, called “the connexome”, where molecules classically …
Sudden unexpected death in epilepsy genetics: molecular diagnostics and prevention
AM Goldman, ER Behr, C Semsarian, RD Bagnall… - …, 2016 - Wiley Online Library
Epidemiologic studies clearly document the public health burden of sudden unexpected
death in epilepsy (SUDEP). Clinical and experimental studies have uncovered dynamic …
death in epilepsy (SUDEP). Clinical and experimental studies have uncovered dynamic …
Modifier genes for sudden cardiac death
PJ Schwartz, L Crotti, AL George Jr - European Heart Journal, 2018 - academic.oup.com
Genetic conditions, even those associated with identical gene mutations, can present with
variable clinical manifestations. One widely accepted explanation for this phenomenon is …
variable clinical manifestations. One widely accepted explanation for this phenomenon is …
Subcellular diversity of Nav1. 5 in cardiomyocytes: distinct functions, mechanisms and targets
GA Marchal, CA Remme - The Journal of Physiology, 2023 - Wiley Online Library
In cardiomyocytes, the rapid depolarisation of the membrane potential is mediated by the α‐
subunit of the cardiac voltage‐gated Na+ channel (NaV1. 5), encoded by the gene SCN5A …
subunit of the cardiac voltage‐gated Na+ channel (NaV1. 5), encoded by the gene SCN5A …
Targeting the Microtubule EB1-CLASP2 Complex Modulates NaV1.5 at Intercalated Discs
GA Marchal, M Jouni, DY Chiang… - Circulation …, 2021 - Am Heart Assoc
Rationale: Loss-of-function of the cardiac sodium channel NaV1. 5 causes conduction
slowing and arrhythmias. NaV1. 5 is differentially distributed within subcellular domains of …
slowing and arrhythmias. NaV1. 5 is differentially distributed within subcellular domains of …