Publications by authors named "Claude Vieyres"
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
Objectives: The aim of this study was to investigate, in a set of 93 mutation-negative long QT syndrome (LQTS) probands, the frequency of copy number variants (CNVs) in LQTS genes.
Background: LQTS is an inherited cardiac arrhythmia characterized by a prolonged heart rate-corrected QT (QTc) interval associated with sudden cardiac death. Recent studies suggested the involvement of duplications or deletions in the occurrence of LQTS.
The identification of nearly a dozen ion channel genes involved in the genesis of human atrial and ventricular arrhythmias has been critical for the diagnosis and treatment of fatal cardiovascular diseases. In contrast, very little is known about the genetic and molecular mechanisms underlying human sinus node dysfunction (SND). Here, we report a genetic and molecular mechanism for human SND.
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