Dilated cardiomyopathy: genetic determinants and mechanisms

EM McNally, L Mestroni - Circulation research, 2017 - Am Heart Assoc
Nonischemic dilated cardiomyopathy (DCM) often has a genetic pathogenesis. Because of
the large number of genes and alleles attributed to DCM, comprehensive genetic testing …

[HTML][HTML] Long QT syndrome: genetics and future perspective

E Wallace, L Howard, M Liu, T O'Brien, D Ward… - Pediatric …, 2019 - Springer
Long QT syndrome (LQTS) is an inherited primary arrhythmia syndrome that may present
with malignant arrhythmia and, rarely, risk of sudden death. The clinical symptoms include …

Extracellular matrix–mediated maturation of human pluripotent stem cell–derived cardiac monolayer structure and electrophysiological function

TJ Herron, AMD Rocha, KF Campbell… - Circulation …, 2016 - Am Heart Assoc
Background—Human pluripotent stem cell–derived cardiomyocytes (hPSC-CMs)
monolayers generated to date display an immature embryonic-like functional and structural …

[HTML][HTML] Human iPSC-derived cardiomyocytes cultured in 3D engineered heart tissue show physiological upstroke velocity and sodium current density

MD Lemoine, I Mannhardt, K Breckwoldt… - Scientific reports, 2017 - nature.com
Human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CM) are a promising
tool for drug testing and modelling genetic disorders. Abnormally low upstroke velocity is a …

Long-QT syndrome: from genetics to management

PJ Schwartz, L Crotti, R Insolia - Circulation: Arrhythmia and …, 2012 - Am Heart Assoc
Schwartz et al LQTS: From Genetics to Management 869 transmembrane portion of the K+
channel with a mild dominant-negative functional effect; in these patients, we demonstrated …

Cardiomyocytes derived from pluripotent stem cells recapitulate electrophysiological characteristics of an overlap syndrome of cardiac sodium channel disease

RP Davis, S Casini, CW van den Berg, M Hoekstra… - Circulation, 2012 - Am Heart Assoc
Background—Pluripotent stem cells (PSCs) offer a new paradigm for modeling genetic
cardiac diseases, but it is unclear whether mouse and human PSCs can truly model both …

[HTML][HTML] Maturation status of sarcomere structure and function in human iPSC-derived cardiac myocytes

FB Bedada, M Wheelwright, JM Metzger - Biochimica et Biophysica Acta …, 2016 - Elsevier
Human heart failure due to myocardial infarction is a major health concern. The paucity of
organs for transplantation limits curative approaches for the diseased and failing adult heart …

Cardiac sodium channelopathy associated with SCN5A mutations: electrophysiological, molecular and genetic aspects

CA Remme - The Journal of physiology, 2013 - Wiley Online Library
Over the last two decades, an increasing number of SCN5A mutations have been described
in patients with long QT syndrome type 3 (LQT3), Brugada syndrome,(progressive) …

Modeling type 3 long QT syndrome with cardiomyocytes derived from patient-specific induced pluripotent stem cells

D Ma, H Wei, Y Zhao, J Lu, G Li, NBE Sahib… - International journal of …, 2013 - Elsevier
Background Type 3 long QT syndrome (LQT3) is the third most common form of LQT
syndrome and is characterized by QT-interval prolongation resulting from a gain-of-function …

Induced pluripotent stem cells for regenerative medicine

KK Hirschi, S Li, K Roy - Annual review of biomedical …, 2014 - annualreviews.org
With the discovery of induced pluripotent stem (iPS) cells, it is now possible to convert
differentiated somatic cells into multipotent stem cells that have the capacity to generate all …