Familial HDL deficiency
|
0.400 |
Biomarker
|
disease |
BEFREE |
Deficiency of ABCA1 causes high density lipoprotein deficiency and macrophage foam cell formation in Tangier disease.
|
11855831 |
2002 |
Familial HDL deficiency
|
0.400 |
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 |
Familial HDL deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.
|
10431236 |
1999 |
Familial HDL deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.
|
15019541 |
2004 |
Familial HDL deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.
|
22959828 |
2012 |
Familial HDL deficiency
|
0.400 |
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 |
Familial HDL deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations of human ABCA1 are associated with Tangier disease and familial HDL deficiency.
|
28602350 |
2017 |
Familial HDL deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations at the ABCA1 gene locus cause severe familial HDL deficiency and, in the homozygous form, cause Tangier disease.
|
18706283 |
2008 |
Familial HDL deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ABCA1 lead to familial high density lipoprotein deficiency and Tangier disease.
|
10884428 |
2000 |
Familial HDL deficiency
|
0.400 |
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 |
Familial HDL deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In order to know the molecular basis for FHD, we characterized three different ABCA1 mutations associated with FHD (G1158A/A255T, C5946T/R1851X, and A5226G/N1611D) with respect to their expression in the passaged fibroblasts from the patients and in the cells transfected with the mutated cDNAs.
|
11785958 |
2002 |
Familial HDL deficiency
|
0.400 |
Biomarker
|
disease |
CTD_human |
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.
|
10431236 |
1999 |
Familial HDL deficiency
|
0.400 |
Biomarker
|
disease |
BEFREE |
Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency.
|
10787172 |
2000 |
Familial HDL deficiency
|
0.400 |
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 |
Familial HDL deficiency
|
0.400 |
Biomarker
|
disease |
CTD_human |
Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease.
|
11476965 |
2001 |
Familial HDL deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ABCA1 gene cause defective cellular lipid efflux and severe familial HDL deficiency.
|
16343503 |
2006 |
Familial HDL deficiency
|
0.400 |
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 |
Familial HDL deficiency
|
0.400 |
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 |
Familial HDL deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency.
|
15722566 |
2005 |
Familial HDL deficiency
|
0.400 |
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 |
Familial HDL deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations of the the ATP-binding cassette-1 (<i>ABCA1</i>) gene are the cause of Tangier disease (TD) in homozygous subjects and familial HDL deficiency (FHD) in heterozygous subjects.
|
28634189 |
2017 |
Familial HDL deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease.
|
11476965 |
2001 |
Familial HDL deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the ABCA1 gene cause FHD and TD.
|
11181755 |
2001 |