Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction.
Antoinette F van OuwerkerkFernanda M BosadaKarel van DuijvenbodenArjan C HouwelingKoen T ScholmanVincent WakkerCornelis P AllaartJae Sun UhmInge B MathijssenTon BaartscheerAlex V PostmaPhil BarnettBastiaan J BoukensVincent M ChristoffelsPublished in: Circulation (2022)
Our data reveal that a disease-causing missense variant in TBX5 induces profound changes in the atrial transcriptional regulatory network and epigenetic state in vivo, leading to arrhythmia reminiscent of those seen in human TBX5-p.G125R variant carriers.
Keyphrases
- intellectual disability
- transcription factor
- gene expression
- atrial fibrillation
- catheter ablation
- endothelial cells
- left atrial
- dna methylation
- autism spectrum disorder
- oxidative stress
- electronic health record
- heat shock
- induced pluripotent stem cells
- big data
- machine learning
- mitral valve
- heat stress
- heat shock protein