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
Familial hypercholesterolemia with special focus on Japan.
Kobayashi J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
A Japanese Woman with Polygenic Familial Hypercholesteremia Who Exhibited Trivial Atherosclerosis.
Saotome M et al.
Internal Medicine (tokyo, Japan), 2024
A Japanese Case of Familial Hypercholesterolemia with a Protein-truncating Variant in LDLR and a PCSK9 Variant without Significant Atherosclerosis but Showing Remarkable Achilles Tendon Thickening.
Minamizuka T et al.
Internal Medicine (tokyo, Japan), 2024
Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients.
Hori M et al.
Atherosclerosis, 2019
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1
Coding-sequence variants are associated with blood lipid levels in 14,473 Chinese.
Lu X et al.
Human Molecular Genetics, 2016
Characterisation of de novo mutations in the C-terminal domain of proprotein convertase subtilisin/kexin type 9.
Geschwindner S et al.
Protein Engineering, Design & Selection : Peds, 2015
Genetic variants in PCSK9 in the Japanese population: rare genetic variants in PCSK9 might collectively contribute to plasma LDL cholesterol levels in the general population.
Miyake Y et al.
Atherosclerosis, 2008
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