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
Child-parent cascade screening for familial hypercholesterolemia in Slovenia: Insights from the pilot program.
Šikonja J et al.
Atherosclerosis, 2025
Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single-Center Experience.
Erdoğan KM et al.
Annals of Human Genetics, 2025
Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia.
Yazıcı H et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Prevalence and penetrance of pathogenic and likely pathogenic LDLR and APOB gene variants linked to familial hypercholesterolemia and increased risk of ischemic heart disease.
Dzhumaniiazova IK et al.
Frontiers in Genetics, 2025
40927359 (PubMed )
Supplement: Table2.xlsx › Table_S2
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
38258479 (PubMed )
Supplement: ADVS-11-2305177-s001.pdf
LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL.
Wang K et al.
Lipids in Health and Disease, 2024
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 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
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
Taylor A et al.
Clinical Genetics, 2007
Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia : a study of patients with familial hypercholesterolemia from Sardinia.
Deiana L et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2000
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