Associated Papers
An ABCA1 missense variant decreases cholesterol efflux and confers Alzheimer's disease risk in the Chinese population.
Liu SK et al.
Journal of Alzheimer's Disease : Jad, 2025
A scalable and cGMP-compatible autologous organotypic cell therapy for Dystrophic Epidermolysis Bullosa.
Neumayer G et al.
Nature Communications, 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
Role of ABCA1 in Cardiovascular Disease.
Wang J et al.
Journal of Personalized Medicine, 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
Strategies to gain novel Alzheimer's disease diagnostics and therapeutics using modulators of ABCA transporters.
Pahnke J et al.
Free Neuropathology, 2021
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nielsen JB et al.
Nature Communications, 2020
Identification and characterization of a rare variant in apolipoprotein A-IV, p.(V336M), and evaluation of HDL functionality in a Greek cohort with extreme HDL cholesterol levels.
Chroni A et al.
Archives of Biochemistry and Biophysics, 2020
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
Association of genetic variants of ABCA1 with susceptibility to dementia: (SADEM study).
Teresa JC et al.
Metabolic Brain Disease, 2020
Coding Variants Coupled With Rapid Modeling in Zebrafish Implicate Dynein Genes, dnaaf1 and zmynd10, as Adolescent Idiopathic Scoliosis Candidate Genes.
Wang Y et al.
Frontiers in Cell and Developmental Biology, 2020
Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.
Barboza-Cerda MC et al.
Molecular Genetics & Genomic Medicine, 2019
ATP-Binding Cassette Transporters in the Clinical Implementation of Pharmacogenetics.
López-Fernández LA
Journal of Personalized Medicine, 2018
Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.
Geller AS et al.
Journal of Lipid Research, 2018
ABCA1 rs2230805 and rs2230806 common gene variants are associated with Alzheimer's disease.
Fehér Á et al.
Neuroscience Letters, 2018
The impact of APOA5, APOB, APOC3 and ABCA1 gene polymorphisms on ischemic stroke: Evidence from a meta-analysis.
Au A et al.
Atherosclerosis, 2017
Influence of four polymorphisms in ABCA1 and PTGS2 genes on risk of Alzheimer's disease: a meta-analysis.
Chen Q et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016
Functional and Structural Impact of ATP-Binding Cassette Transporter A1 R219K and I883M Gene Polymorphisms in Obese Children and Adolescents.
Fawzy MS et al.
Molecular Diagnosis & Therapy, 2015
The R219K polymorphism on ATP-binding cassette transporter A1 gene is associated with coronary heart disease risk in Asia population: evidence from a meta-analysis.
Liu N et al.
Cell Biochemistry and Biophysics, 2015
ATP-binding cassette transporter 1 C69T and V825I polymorphisms in the development of atherosclerosis: a meta-analysis of 18,320 subjects.
Yin YW et al.
Thrombosis Research, 2015
The power comparison of the haplotype-based collapsing tests and the variant-based collapsing tests for detecting rare variants in pedigrees.
Guo W et al.
Bmc Genomics, 2014
LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.
Johansen CT et al.
Journal of Lipid Research, 2014
The role of ABCA1 gene sequence variants on risk of Alzheimer's disease.
Lupton MK et al.
Journal of Alzheimer's Disease : Jad, 2014
Influence of ATP-binding cassette transporter 1 R219K and M883I polymorphisms on development of atherosclerosis: a meta-analysis of 58 studies.
Yin YW et al.
Plos One, 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
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 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
Investigation of ABCA1 C69T polymorphism in patients with type 2 diabetes mellitus.
Ergen HA et al.
Biochemia Medica, 2012
A polymorphism of the ABCA1 gene confers susceptibility to schizophrenia and related brain changes.
Ota M et al.
Progress in Neuro-psychopharmacology & Biological Psychiatry, 2011
Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.
Wakai K et al.
Journal of Epidemiology, 2011
Mutations in APOA-I and ABCA1 in Norwegians with low levels of HDL cholesterol.
Berge KE et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
Frequencies of four ATP-binding cassette transporter G8 polymorphisms in patients with ischemic vascular diseases.
Szilvási A et al.
Genetic Testing and Molecular Biomarkers, 2010
Associations between common polymorphisms of adenosine triphosphate-binding cassette transporter A1 and coronary artery disease in a Tunisian population.
Rejeb J et al.
Archives of Cardiovascular Diseases, 2010
Genetic variation in the ABCA1 gene, HDL cholesterol, and risk of ischemic heart disease in the general population.
Frikke-Schmidt R
Atherosclerosis, 2010
Genetic determinants of plasma HDL-cholesterol levels in prepubertal children.
López-Simón L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009
Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
Boes E et al.
Experimental Gerontology, 2009
Effect of ABCA1 mutations on risk for myocardial infarction.
Iatan I et al.
Current Atherosclerosis Reports, 2008
Genetic risk for myocardial infarction determined by polymorphisms of candidate genes in a Japanese population.
Yamada Y et al.
Journal of Medical Genetics, 2008