Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of human ABCA1 are associated with Tangier disease and familial HDL deficiency.
|
28602350 |
2017 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We investigated the effect of dalcetrapib treatment on phytosterol levels in patients with familial combined hyperlipidemia (FCH) or familial hypoalphalipoproteinemia (FHA) due to mutations in apolipoprotein A1 (ApoA1) or ATP-binding cassette transporter A1 (ABCA1).
|
25281277 |
2014 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.
|
24097981 |
2013 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.
|
22959828 |
2012 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family.
|
22923419 |
2012 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.
|
22959828 |
2012 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An ABCA1 truncation shows no dominant negative effect in a familial hypoalphalipoproteinemia pedigree with three ABCA1 mutations.
|
21575609 |
2011 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations at the ABCA1 gene locus cause severe familial HDL deficiency and, in the homozygous form, cause Tangier disease.
|
18706283 |
2008 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Functional mutations of the ABCA1 gene in subjects of French-Canadian descent with HDL deficiency.
|
16343503 |
2006 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATP-binding cassette transporter A1 (ABCA1) cause Tangier disease and familial hypoalphalipoproteinemia, resulting in low to absent plasma high-density lipoprotein cholesterol levels.
|
16873719 |
2006 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ABCA1 gene cause defective cellular lipid efflux and severe familial HDL deficiency.
|
16343503 |
2006 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Using denaturing HPLC (dHPLC) and direct promoter sequencing we screened the ABCA1 gene of a family with Tangier disease and variable expression of FHA.
|
16225879 |
2006 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene.
|
16429166 |
2005 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency.
|
15722566 |
2005 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
Biomarker
|
disease |
BEFREE |
ABCA1 gene was initially implicated in Tangier disease and familial hypoalphalipoproteinemia and has been shown to be associated with coronary artery disease and atherosclerosis as well.
|
16009332 |
2005 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency.
|
15722566 |
2005 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Multiple rare alleles contribute to low plasma levels of HDL cholesterol.
|
15297675 |
2004 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ABCA1 cause severe HDL deficiency syndromes called Tangier disease and familial high-density lipoprotein deficiency, which are characterized by a severe deficiency or absence of high-density lipoprotein in the plasma.
|
15209530 |
2004 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.
|
15019541 |
2004 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency.
|
15158913 |
2004 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have implicated mutations in the ATP-binding cassette transporter A1, ABCA1, as a cause of Tangier disease (TD) and familial hypoalphalipoproteinemia (FHA).
|
14576201 |
2003 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
Biomarker
|
disease |
BEFREE |
The prevalence of defects in ABCA1-dependent cholesterol efflux in Dutch FHA patients is low.
|
12700344 |
2003 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Approximately 50 mutations and many single nucleotide polymorphisms have been described in the ABCA1 gene, with mutations leading to Tangier disease and familial hypoalphalipoproteinemia.
|
12763760 |
2003 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ABCA1 gene are linked to rare phenotypes, familial hypoalphalipoproteinemia (FHA) and Tangier disease (TD), characterized by markedly decreased plasma high-density lipoprotein cholesterol (HDL-C) levels.
|
12535741 |
2003 |
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This corresponds to human 9q31.1, a chromosomal segment that contains the ATP-binding cassette protein-1 (ABCA1) gene, which is mutated in Tangier Disease and familial hypoalphalipoproteinemia.
|
12364545 |
2002 |