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Proprotein Convertase 9

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Predicting proprotein convertase subtilisin kexin type-9 loss of function mutations using plasma PCSK9 concentration.

Journal of clinical lipidology
BACKGROUND: Low plasma proprotein convertase subtilisin kexin type-9 (PCSK9) concentration has been associated with loss of function (LOF) PCSK9 mutations in several studies. However, the current standard for detection of these LOF mutations is throu...

Multi-state modeling of antibody-antigen complexes with SAXS profiles and deep-learning models.

Methods in enzymology
Antibodies are an established class of human therapeutics. Epitope characterization is an important part of therapeutic antibody discovery. However, structural characterization of antibody-antigen complexes remains challenging. On the one hand, X-ray...

Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?

Journal of the American Heart Association
BACKGROUND: Familial hypercholesterolemia (FH), while highly prevalent, is a significantly underdiagnosed monogenic disorder. Improved detection could reduce the large number of cardiovascular events attributable to poor case finding. We aimed to ass...