Associated Papers
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 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
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.
Akbari P et al.
Nature Communications, 2022
Role of ABCA1 in Cardiovascular Disease.
Wang J et al.
Journal of Personalized Medicine, 2022
ABCA7, a Genetic Risk Factor Associated with Alzheimer's Disease Risk in African Americans.
Stepler KE et al.
Journal of Alzheimer's Disease : Jad, 2022
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
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
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
Increased Systemic and Plaque Inflammation in ABCA1 Mutation Carriers With Attenuation by Statins.
Bochem AE et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2015
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 mediates unfolding of apolipoprotein AI N terminus on the cell surface before lipidation and release of nascent high-density lipoprotein.
Wang S et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2013
ABCA1 mutation carriers with low high-density lipoprotein cholesterol are characterized by a larger atherosclerotic burden.
Bochem AE et al.
European Heart Journal, 2013
Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT.
Tietjen I et al.
Biochimica Et Biophysica Acta, 2012
Tangier disease phenotype diversity in dizygous twin sisters.
Pichit P et al.
Revue Neurologique, 2010
Carriers of loss-of-function mutations in ABCA1 display pancreatic beta-cell dysfunction.
Vergeer M et al.
Diabetes Care, 2010
Adenosine-triphosphate-binding cassette transporter-1 trafficking and function.
Kang MH et al.
Trends in Cardiovascular Medicine, 2010
Severe HDL deficiency due to novel defects in the ABCA1 transporter.
Pisciotta L et al.
Journal of Internal Medicine, 2009
ABCA1 mutants reveal an interdependency between lipid export function, apoA-I binding activity, and Janus kinase 2 activation.
Vaughan AM et al.
Journal of Lipid Research, 2009
Formation of cholesterol-enriched structures by aberrant intracellular accumulation of ATP-binding cassette transporter A1.
Tanaka AR et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2008
Lewis-Sumner syndrome and Tangier disease.
Théaudin M et al.
Archives of Neurology, 2008
Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency.
Matsumura Y et al.
The Journal of Biological Chemistry, 2006
Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro.
Singaraja RR et al.
Circulation Research, 2006
Role of apoA-I, ABCA1, LCAT, and SR-BI in the biogenesis of HDL.
Zannis VI et al.
Journal of Molecular Medicine (berlin, Germany), 2006
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
Wiszniewski W et al.
Human Molecular Genetics, 2005
ATP-binding cassette transporter A1: a cell cholesterol exporter that protects against cardiovascular disease.
Oram JF et al.
Physiological Reviews, 2005
Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.
Pisciotta L et al.
Atherosclerosis, 2004
Posttranscriptional regulation of human ABCA7 and its function for the apoA-I-dependent lipid release.
Ikeda Y et al.
Biochemical and Biophysical Research Communications, 2003
Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene.
Singaraja RR et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2003
Cellular phospholipid and cholesterol efflux in high-density lipoprotein deficiency.
Marcil M et al.
Circulation, 2003
Effects of mutations of ABCA1 in the first extracellular domain on subcellular trafficking and ATP binding/hydrolysis.
Tanaka AR et al.
The Journal of Biological Chemistry, 2003
Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene.
Altilia S et al.
Journal of Lipid Research, 2003
Distinct sites on ABCA1 control distinct steps required for cellular release of phospholipids.
Rigot V et al.
Journal of Lipid Research, 2002
Naturally occurring mutations in the largest extracellular loops of ABCA1 can disrupt its direct interaction with apolipoprotein A-I.
Fitzgerald ML et al.
The Journal of Biological Chemistry, 2002