Associated Papers
Functional characterization of missense variants affecting the extracellular domains of ABCA1 using a fluorescence-based assay.
Teigen M et al.
Journal of Lipid Research, 2024
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis.
Moreno-Gázquez I et al.
Bmc Research Notes, 2023
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort.
Rossi G et al.
Frontiers in Aging Neuroscience, 2022
Elucidating the Structural Features of ABCA1 in its Heterogeneous Membrane Environment.
Sunidhi S et al.
Frontiers in Molecular Biosciences, 2021
Computational SNP Analysis and Molecular Simulation Revealed the Most Deleterious Missense Variants in the NBD1 Domain of Human ABCA1 Transporter.
Dash R et al.
International Journal of Molecular Sciences, 2020
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.
Service SK et al.
Plos Genetics, 2014
A Comprehensive In Silico Analysis of the Functional and Structural Impact of Nonsynonymous SNPs in the ABCA1 Transporter Gene.
Marín-Martín FR et al.
Cholesterol, 2014
ABC transporter genes and risk of type 2 diabetes: a study of 40,000 individuals from the general population.
Schou J et al.
Diabetes Care, 2012
Genetic variation in the ABCA1 gene, HDL cholesterol, and risk of ischemic heart disease in the general population.
Frikke-Schmidt R
Atherosclerosis, 2010
Association of loss-of-function mutations in the ABCA1 gene with high-density lipoprotein cholesterol levels and risk of ischemic heart disease.
Frikke-Schmidt R et al.
Jama, 2008
A novel haplotype in ABCA1 gene effects plasma HDL-C concentration.
Saleheen D et al.
International Journal of Cardiology, 2007
Mutation in ABCA1 predicted risk of ischemic heart disease in the Copenhagen City Heart Study Population.
Frikke-Schmidt R et al.
Journal of the American College of Cardiology, 2005
Common variation in genes involved in HDL metabolism influences coronary heart disease risk at the population level.
Brousseau ME
Reviews in Endocrine & Metabolic Disorders, 2004
Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population.
Frikke-Schmidt R et al.
The Journal of Clinical Investigation, 2004
Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene.
Singaraja RR et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2003
Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease.
Clee SM et al.
Circulation, 2001