Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic.
de Rojas I et al.
Alzheimer's Research & Therapy, 2025
Human TMEFF1 is a restriction factor for herpes simplex virus in the brain.
Chan YH et al.
Nature, 2024
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
Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s).
Chaudhari S et al.
Molecular Genetics and Genomics : Mgg, 2023
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.
Akbari P et al.
Nature Communications, 2022
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 identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 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
Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.
Wong KHY et al.
Molecular Genetics & Genomic Medicine, 2019
Significance of Cholesterol-Binding Motifs in ABCA1, ABCG1, and SR-B1 Structure.
Dergunov AD et al.
The Journal of Membrane Biology, 2019
Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.
Geller AS et al.
Journal of Lipid Research, 2018
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
Polygenic determinants in extremes of high-density lipoprotein cholesterol.
Dron JS et al.
Journal of Lipid Research, 2017
Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.
Sadananda SN et al.
Journal of Lipid Research, 2015
Association of ATP-Binding Cassette Transporter A1 Gene Polymorphisms in Type 2 Diabetes Mellitus among Malaysians.
Haghvirdizadeh P et al.
Journal of Diabetes Research, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
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
ABCA1 mutation carriers with low high-density lipoprotein cholesterol are characterized by a larger atherosclerotic burden.
Bochem AE et al.
European Heart Journal, 2013
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
Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family.
Reddy MV et al.
Circulation. Cardiovascular Genetics, 2012
Genetic variation in the ABCA1 gene, HDL cholesterol, and risk of ischemic heart disease in the general population.
Frikke-Schmidt R
Atherosclerosis, 2010
ABCA1 gene mutations, HDL cholesterol levels, and risk of ischemic heart disease.
Brunham LR et al.
Jama, 2008
Effect of ABCA1 mutations on risk for myocardial infarction.
Iatan I et al.
Current Atherosclerosis Reports, 2008
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
Cholesterol in islet dysfunction and type 2 diabetes.
Brunham LR et al.
The Journal of Clinical Investigation, 2008
Genetic variation in ABCA1 predicts ischemic heart disease in the general population.
Frikke-Schmidt R et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2008
Functional mutations of the ABCA1 gene in subjects of French-Canadian descent with HDL deficiency.
Alrasadi K et al.
Atherosclerosis, 2006
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
The association of the R219K polymorphism in the ATP-binding cassette transporter 1 ( ABCA1) gene with coronary heart disease and hyperlipidaemia.
Evans D et al.
Journal of Molecular Medicine (berlin, Germany), 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
A case of premature and recurrent myocardial infarction associated with ABCA.1 gene mutation.
Subramaniam K et al.
Journal of Postgraduate Medicine, 0