Publications by authors named "Vivian Lee-Kim"
Thoracic aortic aneurysm and dissection (TAAD) is a rare but often fatal vascular disease. A family history of TAAD increases risk, and several genes are linked to risk of both aneurysm and dissection. The current AHA/ACC guidelines for management of TAAD include genetic testing for affected individuals with no other risk factors such as hypertension or bicuspid aortic valve.
View Article and Find Full Text PDFLinking variants from genome-wide association studies (GWAS) to underlying mechanisms of disease remains a challenge. For some diseases, a successful strategy has been to look for cases in which multiple GWAS loci contain genes that act in the same biological pathway. However, our knowledge of which genes act in which pathways is incomplete, particularly for cell-type-specific pathways or understudied genes.
View Article and Find Full Text PDFEndothelial cells (EC) are an important mediator of atherosclerosis and vascular disease. Their exposure to atherogenic risk factors such as hypertension and serum cholesterol leads to endothelial dysfunction and many disease-associated processes. Identifying which of these multiple EC functions is causally related to disease risk has been challenging.
View Article and Find Full Text PDFArticle Synopsis
- CRISPR-Cas9 genome editing is a valuable technique for researching gene function, but it faces challenges with vascular cells due to low efficiency using traditional methods.
- The authors propose a new method using nucleofection to directly deliver sgRNA:Cas9 ribonucleoprotein complexes, leading to higher editing efficiency and faster results without needing selection steps.
- This technique not only works well for vascular cells but may also be useful for other hard-to-edit cell types, expanding the possibilities of genome editing research.
Background: Corin is a protease expressed in cardiomyocytes that plays a key role in salt handling and intravascular volume homeostasis via activation of natriuretic peptides. It is unknown if Corin loss-of-function (LOF) is causally associated with risk of coronary artery disease (CAD).
Methods: We analyzed all coding variants in an Italian case-control study of CAD.