[HTML][HTML] A versatile high-throughput assay based on 3D ring-shaped cardiac tissues generated from human induced pluripotent stem cell-derived cardiomyocytes

M Seguret, P Davidson, S Robben, C Jouve, C Pereira… - Elife, 2024 - elifesciences.org
We developed a 96-well plate assay which allows fast, reproducible, and high-throughput
generation of 3D cardiac rings around a deformable optically transparent hydrogel …

Stem cell models of inherited arrhythmias

T Ryan, JD Roberts - Nature Cardiovascular Research, 2024 - nature.com
Inherited arrhythmias are a heterogeneous group of conditions that confer risk of sudden
death. Many inherited arrhythmias have been linked to pathogenic genetic variants that …

[HTML][HTML] Using CRISPR/Cas9 genome editing in human iPSCs for deciphering the pathogenicity of a novel CCM1 transcription start site deletion

RA Pilz, D Skowronek, M Hamed, A Weise… - Frontiers in Molecular …, 2022 - frontiersin.org
Cerebral cavernous malformations are clusters of aberrant vessels that can lead to severe
neurological complications. Pathogenic loss-of-function variants in the CCM1, CCM2, or …

Copy number variations: The potential association genetic cause in severe cardiovascular diseases with unknown aetiology

N Naderi, MH MozafaryBazargany… - Journal of Cellular …, 2024 - Wiley Online Library
Cardiovascular diseases (CVDs) are the leading cause of mortality worldwide. While both
genetic and environmental factors significantly contribute to the pathogenesis of CVDs …

[HTML][HTML] Functional evaluation of gene mutations in Long QT Syndrome: strength of evidence from in vitro assays for deciphering variants of uncertain significance

JC Hancox, AG Stuart, SC Harmer - Journal of Congenital Cardiology, 2020 - Springer
Background Genetic screening is now commonplace for patients suspected of having
inherited cardiac conditions. Variants of uncertain significance (VUS) in disease-associated …

[HTML][HTML] Long QT syndrome type 2: mechanism-based therapies

KO Cox, BX Wang - Future Cardiology, 2021 - Taylor & Francis
Long QT syndrome type 2 is a life-threatening disorder of cardiac electrophysiology. It can
lead to sudden cardiac death as a result of QT prolongation and can remain undetected until …

Stem cell‐derived cardiomyocyte heterogeneity confounds electrophysiological insights

AP Clark, T Krogh‐Madsen… - The Journal of …, 2024 - Wiley Online Library
Human induced pluripotent stem cell‐derived cardiomyocytes (iPSC‐CMs) offer potential as
an in vitro model for studying drug cardiotoxicity and patient‐specific cardiovascular …

Genome editing technology: A new frontier for the treatment and prevention of cardiovascular diseases

S Saeed, SU Khan, WU Khan… - Current Problems in …, 2023 - Elsevier
Over the past 2 decades, genome-editing technique has proven to be a robust editing
method that revolutionizes the field of biomedicine. At the genetic level, it can be efficiently …

Genome editing and inherited cardiac arrhythmias

L Lalaguna, L Ramos-Hernández, SG Priori… - Genome Editing in …, 2022 - Springer
Inherited arrhythmic disorders are a group of heterogeneous diseases predisposing to life-
threatening arrhythmias and sudden cardiac death. Their diagnosis is not always simple due …

[HTML][HTML] Application of the pluripotent stem cells and genomics in cardiovascular research—what we have learnt and not learnt until now

M Simeon, S Dangwal, A Sachinidis, MX Doss - Cells, 2021 - mdpi.com
Personalized regenerative medicine and biomedical research have been galvanized and
revolutionized by human pluripotent stem cells in combination with recent advances in …