Publications by authors named "Ton Baartscheer"
Circulation
February 2022
Article Synopsis
- The TBX5 p.G125R variant causes Holt-Oram syndrome and early onset atrial fibrillation, necessitating exploration of its effects on cardiac physiology.
- An analysis of Holt-Oram syndrome patients’ ECGs and genetically modified mice revealed variable heart rhythms and a susceptibility to atrial fibrillation, without significant morphological changes.
- Comprehensive studies showed decreased calcium levels and prolonged action potentials in TBX5-p.G125R cardiomyocytes, alongside significant transcriptional and epigenetic changes, indicating the variant's profound impact on heart function.
