Publications by authors named "Annabelle Rajalu"
Article Synopsis
- - The study investigates the role of 3D chromatin organization in gene regulation and its link to human Mendelian diseases, particularly focusing on a new cardiac condition found in 7 families caused by a deletion of CTCF binding sites on chromosome 4q25.
- - This deletion results in the fusion of topologically associating domains (TADs) and alters chromatin structure, affecting the expression of the PITX2 gene, which is critical for heart function.
- - Using a mouse model that mimics the human genetic deletion, researchers observed changes in PITX2 expression in the heart, leading to the conclusion that TAD remodeling due to CTCF site deletion is responsible for a novel autosomal dominant Mend
Background: Beta-blocker therapy is the cornerstone of treatment for patients with long QT syndrome (LQTS). Few details on the dose to be used are available. As the response is variable between patients, we systematically evaluated the effect of treatment by performing an exercise test.
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