Associated Papers
Simultaneous Assessment of Genetic and Epigenetic Contributions to the Plasma Lipid Levels with Respect to Cardiovascular Risk.
Takeuchi F et al.
Journal of Atherosclerosis and Thrombosis, 2026
Cardiovascular disease risk in patients with elevated LDL-C levels: FH vs. non-FH.
Huang H et al.
Frontiers in Cardiovascular Medicine, 2024
39512369 (PubMed )
Supplement: Table1.pdf
Molecular insights into the coding region mutations of low-density lipoprotein receptor adaptor protein 1 (LDLRAP1) linked to familial hypercholesterolemia.
Shaik NA et al.
The Journal of Gene Medicine, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.
Fahed AC et al.
Molecular Genetics & Genomic Medicine, 2016
Autosomal recessive hypercholesterolemia: a mild phenotype of familial hypercholesterolemia: insight from the kinetic study using stable isotope and animal studies.
Tada H et al.
Journal of Atherosclerosis and Thrombosis, 2015
Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.
Dvir H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012
A novel Thr56Met mutation of the autosomal recessive hypercholesterolemia gene associated with hypercholesterolemia.
Harada K et al.
Journal of Atherosclerosis and Thrombosis, 2010
Select a paper to view details