Publications by authors named "A J Verkerk"
Article Synopsis
- * Researchers studied a Caucasian family with a history of AFFs and identified a rare genetic variant in the LOXL4 gene that may be associated with increased susceptibility to these fractures.
- * The LOXL4 gene is involved in collagen production, and the variant may disrupt collagen metabolism, leading to microdamage in bones and poor healing, as indicated by tests on cells from affected individuals.
Article Synopsis
- Brugada syndrome (BrS) is a hereditary cardiac disorder linked to sudden death in young adults, particularly prevalent in Southeast Asia, with certain genetic variants associated with the condition.
- Researchers conducted genome sequencing on individuals with BrS and matched controls in Thailand to find rare noncoding variants that are more common in BrS patients.
- A specific rare variant was identified that disrupts a transcription factor binding site, causing reduced gene expression and reduced sodium current in heart cells, contributing to the high prevalence of BrS in the region and identifying at-risk individuals.
Article Synopsis
- Brugada syndrome (BrS) is a genetic heart condition that mainly affects middle-aged men, increasing the risk of sudden cardiac death, particularly prevalent in Asia.
- The underlying causes of BrS are not fully understood, and while implantable cardioverter-defibrillators (ICDs) are the best treatment, complications can arise, highlighting the need for better diagnostic and treatment strategies.
- Zebrafish may serve as a promising model for researching BrS due to their similar cardiac functions to humans, and this review emphasizes their potential for gene editing and drug screening in BrS studies.
The atrioventricular (AV) conduction axis provides electrical continuity between the atrial and ventricular chambers. The "nodal" cardiomyocytes populating this region (AV canal in the embryo, AV node from fetal stages onward) propagate impulses slowly, ensuring sequential contraction of the chambers. Dysfunction of AV nodal tissue causes severe disturbances in rhythm and contraction, and human models that capture its salient features are limited.
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