Associated Papers
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
34108472 (PubMed )
Supplement: 41467_2021_23556_MOESM3_ESM.xlsx › Supp_Data_2
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.
Chorba JS et al.
The Journal of Biological Chemistry, 2018
Complexity of mechanisms among human proprotein convertase subtilisin-kexin type 9 variants.
Dron JS et al.
Current Opinion in Lipidology, 2017
PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.
Tran NT et al.
Frontiers in Genetics, 2015
Proprotein convertase subtilisin/kexin type 9 (PCSK9): lessons learned from patients with hypercholesterolemia.
Awan Z et al.
Clinical Chemistry, 2014
Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.
Mayne J et al.
Lipids in Health and Disease, 2013
Molecular population genetics of PCSK9: a signature of recent positive selection.
Ding K et al.
Pharmacogenetics and Genomics, 2008
Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.
Ding K et al.
Plos One, 2007
[After the LDL receptor and apolipoprotein B, autosomal dominant hypercholesterolemia reveals its third protagonist: PCSK9].
Abifadel M et al.
Annales D'endocrinologie, 2007
A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.
Kotowski IK et al.
American Journal of Human Genetics, 2006
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