Genetic hypertrophic and dilated cardiomyopathies (HCM and DCM, respectively) are characterised by structural and functional abnormalities that can lead to heart failure. However, current therapies mainly reduce symptoms. Patient‐derived human induced pluripotent stem cell (hiPSC)–derived cardiomyocytes provide a valua...
S. Pohjavaara, S. Kinnunen, H. Ruskoaho et al.· Basic & Clinical Pharmacolog...· 1 citation
EHTs generated from HCM hiPSC-derived cardiomyocytes showed a progressive decline in apparent force, whereas DCM EHTs fractured over time, suggesting mutation-associated phenotypes in 3D cardiac tissue models, and highlight the utility of hiPSC-based cardiac models for investigating molecular and functional disease mec...
S. Pohjavaara, Q. Majid, L. Huttunen et al.· bioRxiv· 0 citations
Findings indicate that individuals homozygous for the PPA2 c.380G > T, p.(Arg127Leu) variant may remain asymptomatic into adulthood, particularly in the setting of alcohol exposure.
K. Heliö, Aurelia Ahokas, Sonja Sulkava et al.· Orphanet Journal of Rare Dis...· 0 citations
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