Loss-of-Function Mutations in APOC 3 , Triglycerides , and Coronary Disease

By Jacy R. Crosby, G. Peloso, Paul L. Auer, D. Crosslin, N. Stitziel, L. Lange, Y. Lu, Zheng-Zheng Tang, He Zhang, G. Hindy and 76 more. 2014

861 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/271e889f83f9c3fc0c1df886e515755c61150404

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

1. Min Wu
2. I. Graham
3. Mengyuan Huang
4. Hongyi Li
5. Xia Zhao
6. Yang Yang
7. Weiqi Hong

Citations in the corpus

• 2016 ESC/EAS Guidelines for the Management of Dyslipidaemias. (2016, background): “67,122 Table 7 lists recommendations for lipid analyses in CVD risk estimation, Table 8 lists recommendations for lipid analyses for characterization of dyslipidaemias before treatment and Table 9 lists recommendations for lipid analyses as treatment targets in the prevention of CVD. Apo ¼ apolipopr”
• Triglyceride-Rich Lipoproteins and Atherosclerotic Cardiovascular Disease: New Insights From Epidemiology, Genetics, and Biology. (2016, unknown): “A necessity for triglyceride-rich lipoproteins to cause atherosclerosis and ASCVD is their ability to enter into the arterial intima, the location of the atherosclerotic plaque, leading ultimately to ASCVD.”
• Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity (2017, unknown): “We and others recently reported that heterozygous APOC3 pLoF mutations lower plasma triglycerides and reduce risk for coronary heart disease 4,5,25 ; there is now substantial interest in APOC3 as a therapeutic target 26–28 .”
• Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects (2020, background): “Since these two genes are mainly expressed in liver cells, one idea is to directly introduce nonsense mutations to APOC3 or PCSK9 genes in liver cells through genome editing technology, thus fundamentally inhibiting protein synthesis and achieving long-term stable therapeutic effects.(97,98) PRKAG2 ”