Associated Papers
LDLR variant classification through activity-normalized prime editing screening.
Zhou PJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Large-Scale Functional Characterization of Low-Density Lipoprotein Receptor Gene Variants Improves Risk Assessment in Cardiovascular Disease.
Islam MM et al.
Jacc. Basic to Translational Science, 2025
OptiMo-LDLr: An Integrated In Silico Model with Enhanced Predictive Power for LDL Receptor Variants, Unraveling Hot Spot Pathogenic Residues.
Larrea-Sebal A et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024
Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.
Reijman MD et al.
Current Opinion in Lipidology, 2023
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
Genetic analysis of familial hypercholesterolaemia in Western Australia.
Hooper AJ et al.
Atherosclerosis, 2012
Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.
Wright WT et al.
Clinical Genetics, 2008
What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?
Humphries SE et al.
Current Opinion in Lipidology, 2008
Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.
Leigh SE et al.
Annals of Human Genetics, 2008
A critical analysis of disease-associated DNA polymorphisms in the genes of cattle, goat, sheep, and pig.
Ibeagha-Awemu EM et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2008
Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.
Alharbi KK et al.
Genome Research, 2005
Genetic characterization of Swedish patients with familial hypercholesterolemia: a heterogeneous pattern of mutations in the LDL receptor gene.
Lind S et al.
Atherosclerosis, 2002
The UMD-LDLR database: additions to the software and 490 new entries to the database.
Villéger L et al.
Human Mutation, 2002
Familial hypercholesterolaemia in Finland: common, rare and mild mutations of the LDL receptor and their clinical consequences. Finnish FH-group.
Vuorio AF et al.
Annals of Medicine, 2001
Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH.
Sun XM et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 1995