Associated Papers
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
A Clinical Case of Probable Sitosterolemia.
Terasaki M et al.
International Journal of Molecular Sciences, 2024
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in Genetics, 2023
The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.
Kim YJ et al.
Nature Communications, 2022
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.
Yang D et al.
Frontiers in Genetics, 2021
Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene.
Tada H et al.
Lipids in Health and Disease, 2020
Recent Advances in the Critical Role of the Sterol Efflux Transporters ABCG5/G8 in Health and Disease.
Wang HH et al.
Advances in Experimental Medicine and Biology, 2020
Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
Pek SLT et al.
Atherosclerosis, 2018
Association of ATP binding cassette transporter G8 rs4148217 SNP and serum lipid levels in Mulao and Han nationalities.
Li Q et al.
Lipids in Health and Disease, 2012
Interactions between CYP7A1 A-204C and ABCG8 C1199A polymorphisms on lipid lowering with atorvastatin.
Wei KK et al.
Journal of Clinical Pharmacy and Therapeutics, 2011
The potential influence of genetic variants in genes along bile acid and bile metabolic pathway on blood cholesterol levels in the population.
Lu Y et al.
Atherosclerosis, 2010
Polymorphisms in ABCG5/G8 transporters linked to hypercholesterolemia and gallstone disease.
Rudkowska I et al.
Nutrition Reviews, 2008
Significant association of ABCG8:D19H gene polymorphism with hypercholesterolemia and insulin resistance.
Chen ZC et al.
Journal of Human Genetics, 2008
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
Buch S et al.
Nature Genetics, 2007
A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.
Pandit B et al.
Bmc Medical Genetics, 2006
ATP-binding cassette transporter G8 M429V polymorphism as a novel genetic marker of higher cholesterol absorption in hypercholesterolaemic Japanese subjects.
Miwa K et al.
Clinical Science (london, England : 1979), 2005
[New approach to pathogenesis of genetic hyperlipoproteinemias].
Koizumi J et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 1993