|
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 |
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.
|
22959828 |
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 |
Our findings indicate that mutations in the ABCA1 gene are associated with TD as well as FHA.
|
11476965 |
2001 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The application of the test to the molecular analysis of a new patient with familial HDL-deficiency (Tangier disease) led to a discovery of two novel ABCA1 mutations: C2665del and C4457T.
|
11476961 |
2001 |
|
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The identification of mutations in ABCA1 in patients with Tangier disease and familial HDL deficiency demonstrated that inadequate transport of phospholipid and cholesterol to the extracellular space results in the hypercatabolism of lipid-poor nascent HDL particles.
|
11714841 |
2001 |
|
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 |
UNIPROT |
These data confirm recent data that a single defective allele in ABCA1 may be associated with reduced HDL cholesterol and FHA.
|
12204794 |
2002 |
|
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These data confirm recent data that a single defective allele in ABCA1 may be associated with reduced HDL cholesterol and FHA.
|
12204794 |
2002 |
|
Hypoalphalipoproteinemia, Familial
|
0.800 |
Biomarker
|
disease |
BEFREE |
These data show that mutations in ABC1 are the major cause of familial HDL deficiency associated with defective cholesterol efflux, and that CERP has an essential role in the formation of HDL.
|
10533863 |
1999 |
|
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
These data show that mutations in ABC1 are the major cause of familial HDL deficiency associated with defective cholesterol efflux, and that CERP has an essential role in the formation of HDL.
|
10533863 |
1999 |
|
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 |
|
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To determine whether naturally occurring mutants of ABCA1 may affect its phosphorylation activity, fibroblasts from subjects with familial HDL deficiency (FHD, heterozygous ABCA1 defect) and Tangier disease (TD, homozygous/compound heterozygous ABCA1 defect) were treated with 8-Br-cAMP or forskolin.
|
12454270 |
2002 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
We and others have recently identified mutations in the ABCA1 gene as the underlying cause of Tangier disease (TD) and of a dominantly inherited form of familial hypoalphalipoproteinemia (FHA) associated with reduced cholesterol efflux.
|
11086027 |
2000 |
|
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We conclude that a cellular cholesterol defect is a relatively frequent cause of familial HDL deficiency and that a mutation at the ABCA1 gene can be identified in half of these patients.
|
10998475 |
2000 |
|
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We have now identified 13 ABCA1 mutations in 11 families (five TD, six FHA) and have examined the phenotypes of 77 individuals heterozygous for mutations in the ABCA1 gene.
|
11086027 |
2000 |
|
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 |
BEFREE |
With these new sequencing primers, we found 3 novel ABCA1 mutations: a frameshift mutation (4570insA, A1484S-->X1492), a missense mutation (A986D) in a TD family, and a missense mutation (R170C) in aboriginal subjects with FHA.
|
10938021 |
2000 |