|
Hypoalphalipoproteinemia, Familial
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Hypoalphalipoproteinemia, Familial
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in ABC1 were detected in both TD and FHA, indicating that TD and FHA are allelic.
|
10431236 |
1999 |
|
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ABC1 were detected in both TD and FHA, indicating that TD and FHA are allelic.
|
10431236 |
1999 |
|
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 |
Biomarker
|
disease |
BEFREE |
Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency.
|
10787172 |
2000 |
|
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ABCA1 lead to familial high density lipoprotein deficiency and Tangier disease.
|
10884428 |
2000 |
|
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 |
|
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 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 |
CausalMutation
|
disease |
CLINVAR |
Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease.
|
11238261 |
2001 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Direct sequencing of all coding regions and splice site junctions of other HDL candidate genes revealed no additional mutations, indicating that combined defective ABCA1 alleles may result in familial HDL deficiency.
|
12009425 |
2002 |
|
Hypoalphalipoproteinemia, Familial
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Direct sequencing of all coding regions and splice site junctions of other HDL candidate genes revealed no additional mutations, indicating that combined defective ABCA1 alleles may result in familial HDL deficiency.
|
12009425 |
2002 |
|
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 |
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 |
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 |
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 |