Condition: Tangier Disease
rs137854494 in
ABCA1 gene and
Tangier Disease
PMID 11476961 2001 Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome.
PMID 12111381 2002 Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 ( ABCA1) gene in Japanese patients with Tangier disease.
PMID 11476965 2001 Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease.
PMID 15019541 2004 Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.
PMID 14576201 2003 Novel polypyrimidine variation (IVS46: del T -39...-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease.
PMID 12407001 2002 Lack of association between increased carotid intima-media thickening and decreased HDL-cholesterol in a family with a novel ABCA1 variant, G2265T.
PMID 14754908 2004 Analysis of apoE3-containing particles generated during the incubation of lipid-free apoE3 with stimulated normal cells showed nascent apoE3/cholesterol/phospholipid complexes that exhibited prebeta-electrophoretic mobility with a particle size ranging from 9 to 15 nm, whereas lipid-free apoE3 incubated with ABCA1 mutant (C1477R) cells was unable to form such particles.These results demonstrate that 1). apoE association with lipids reduced its ability to interact with ABCA1; 2). apoE isoforms did not affect apoE binding to ABCA1; 3). apoE-mediated ABCA1-dependent cholesterol efflux was not affected by apoE isoforms in fibroblasts; and 4). the lipid translocase activity of ABCA1 generates apoE-containing high density-sized lipoprotein particles.
PMID 15520867 2004 Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population.
PMID 11257260 2001 A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease.
PMID 10938021 2000 Common and rare ABCA1 variants affecting plasma HDL cholesterol.
PMID 10431237 1999 The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.
PMID 10431236 1999 Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.
PMID 15262183 2004 Screening for functional sequence variations and mutations in ABCA1.
PMID 12111371 2002 Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis.
PMID 15158913 2004 Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency.
PMID 10706591 2000 Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds.
PMID 15297675 2004 Multiple rare alleles contribute to low plasma levels of HDL cholesterol.
PMID 24097981 2013 Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.
PMID 11086027 2000 Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.
PMID 11785958 2002 Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency.
PMID 14754908 2004 Molecular interactions between apoE and ABCA1: impact on apoE lipidation.
PMID 12111371 2002 We have documented here a clinical variant of TD in a Japanese patient who manifested corneal lipidosis and premature coronary artery disease as well as an almost complete absence of HDL-cholesterol, by identifying a novel homozygous ABCA1 mutation (R1680W).