Associated Papers
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 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
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
Functional characterization of genetic variants affecting the intracellular domains of ATP-binding cassette transporter A1 (ABCA1).
Teigen M et al.
Journal of Lipid Research, 2025
The impact of rare genetic variants on Alzheimer disease.
De Deyn L et al.
Nature Reviews. Neurology, 2025
Emerging Role of ABC Transporters in Glia Cells in Health and Diseases of the Central Nervous System.
Villa M et al.
Cells, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 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 identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Holstege H et al.
Nature Genetics, 2022
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.
Akbari P et al.
Nature Communications, 2022
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
The role of ATP-binding cassette subfamily A in the etiology of Alzheimer's disease.
Bossaerts L et al.
Molecular Neurodegeneration, 2022
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.
Murdock DR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Apolipoprotein A1, the neglected relative of Apolipoprotein E and its potential role in Alzheimer's disease.
Endres K
Neural Regeneration Research, 2021
The Role of the ATP-Binding Cassette A1 (ABCA1) in Human Disease.
Jacobo-Albavera L et al.
International Journal of Molecular Sciences, 2021
Low High-Density Lipoprotein Cholesterol and High White Blood Cell Counts: A Mendelian Randomization Study.
Harsløf M et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2021
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE et al.
Frontiers in Genetics, 2021
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
Tangier disease: update for 2020.
Hooper AJ et al.
Current Opinion in Lipidology, 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
Association of rs146292819 Polymorphism in ABCA1 Gene with the Risk of Coronary Artery Disease in Pakistani Population.
Sameem M et al.
Biochemical Genetics, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 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
Peripheral neuropathy in Tangier disease: A literature review and assessment.
Mercan M et al.
Journal of the Peripheral Nervous System : Jpns, 2018
Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.
Lu X et al.
Nature Genetics, 2017
Polygenic determinants in extremes of high-density lipoprotein cholesterol.
Dron JS et al.
Journal of Lipid Research, 2017
Targeted pharmacotherapies for defective ABC transporters.
Vauthier V et al.
Biochemical Pharmacology, 2017
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
Apolipoprotein E metabolism and functions in brain and its role in Alzheimer's disease.
Liao F et al.
Current Opinion in Lipidology, 2017
Liver X receptor agonist treatment significantly affects phenotype and transcriptome of APOE3 and APOE4 Abca1 haplo-deficient mice.
Carter AY et al.
Plos One, 2017
Loss-of-function mutation in ABCA1 and risk of Alzheimer's disease and cerebrovascular disease.
Nordestgaard LT et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2015
Increased Systemic and Plaque Inflammation in ABCA1 Mutation Carriers With Attenuation by Statins.
Bochem AE et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2015
Unraveling new therapeutic targets of coronary artery disease by genetic approaches.
Lee SE et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2015
HDL biogenesis, remodeling, and catabolism.
Zannis VI et al.
Handbook of Experimental Pharmacology, 2015
ATP-binding cassette transporter A1: from metabolism to neurodegeneration.
Koldamova R et al.
Neurobiology of Disease, 2014
Elevated remnant cholesterol in 25-hydroxyvitamin D deficiency in the general population: Mendelian randomization study.
Ooi EM et al.
Circulation. Cardiovascular 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
Molecular mechanisms of disease-causing missense mutations.
Stefl S et al.
Journal of Molecular Biology, 2013