Associated Papers
LDLR variant classification through activity-normalized prime editing screening.
Zhou PJ et al.
Biorxiv : the Preprint Server for Biology, 2025
41473288 (PubMed )
Supplement: media-1.xlsx › SuppTable1
Pacybara: accurate long-read sequencing for barcoded mutagenized allelic libraries.
Weile J et al.
Bioinformatics (oxford, England), 2024
38569896 (PubMed )
Supplement: btae182_supplementary_data.pdf
Pacybara: Accurate long-read sequencing for barcoded mutagenized allelic libraries.
Weile J et al.
Biorxiv : the Preprint Server for Biology, 2023
36865234 (PubMed )
Supplement: media-1.pdf
Targeting PCSK9 to tackle cardiovascular disease.
Hummelgaard S et al.
Pharmacology & Therapeutics, 2023
PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.
Sundararaman SS et al.
Biomedicines, 2021
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
Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.
Le QT et al.
The Journal of Biological Chemistry, 2015
Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.
Qin M et al.
Human Genetics, 2008
A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol.
Fasano T et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2007
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.
Qin M et al.
Human Mutation, 2005
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