[HTML][HTML] A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
Congenital long QT syndrome
Congenital long QT syndrome (LQTS) encompasses a group of heritable conditions that are
associated with cardiac repolarization dysfunction. Since its initial description in 1957, our …
associated with cardiac repolarization dysfunction. Since its initial description in 1957, our …
Identification of drug transporter genomic variants and inhibitors that protect against doxorubicin-induced cardiotoxicity
Background: Multiple pharmacogenomic studies have identified the synonymous genomic
variant rs7853758 (G> A, L461L) and the intronic variant rs885004 in SLC28A3 (solute …
variant rs7853758 (G> A, L461L) and the intronic variant rs885004 in SLC28A3 (solute …
[HTML][HTML] Long QT syndrome: genetics and future perspective
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 …
with malignant arrhythmia and, rarely, risk of sudden death. The clinical symptoms include …
[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 …
tool for drug testing and modelling genetic disorders. Abnormally low upstroke velocity is a …
[HTML][HTML] Human engineered heart tissue models for disease modeling and drug discovery
The emergence of human induced pluripotent stem cells (hiPSCs) and efficient
differentiation of hiPSC-derived cardiomyocytes (hiPSC-CMs) induced from diseased …
differentiation of hiPSC-derived cardiomyocytes (hiPSC-CMs) induced from diseased …
Human induced pluripotent stem cell–derived cardiomyocytes as models for cardiac channelopathies: a primer for non-electrophysiologists
P Garg, V Garg, R Shrestha, MC Sanguinetti… - Circulation …, 2018 - Am Heart Assoc
Life threatening ventricular arrhythmias leading to sudden cardiac death are a major cause
of morbidity and mortality. In the absence of structural heart disease, these arrhythmias …
of morbidity and mortality. In the absence of structural heart disease, these arrhythmias …
Integrating cardiomyocytes from human pluripotent stem cells in safety pharmacology: has the time come?
Cardiotoxicity is a severe side effect of drugs that induce structural or electrophysiological
changes in heart muscle cells. As a result, the heart undergoes failure and potentially lethal …
changes in heart muscle cells. As a result, the heart undergoes failure and potentially lethal …
Human induced pluripotent stem cell (hiPSC)-derived cells to assess drug cardiotoxicity: opportunities and problems
Billions of US dollars are invested every year by the pharmaceutical industry in drug
development, with the aim of introducing new drugs that are effective and have minimal side …
development, with the aim of introducing new drugs that are effective and have minimal side …
[HTML][HTML] Modeling cardiac disease mechanisms using induced pluripotent stem cell-derived cardiomyocytes: progress, promises and challenges
Cardiovascular diseases (CVDs) are a class of disorders affecting the heart or blood
vessels. Despite progress in clinical research and therapy, CVDs still represent the leading …
vessels. Despite progress in clinical research and therapy, CVDs still represent the leading …