rs137854498
|
|
|
0.710 |
GeneticVariation |
BEFREE |
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).
|
12111371 |
2002 |
rs374404992
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two point mutations of ABCA1 gene were found in a patient with Tangier disease (TD): i) G>C in intron 2 (IVS2 +5G>C) and ii) c.844 C>T in exon 9 (R282X).
|
12576507 |
2003 |
rs141021096
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Finally, apoA-I stimulates apoE secretion normally from macrophages of two unrelated subjects with genetically confirmed Tangier Disease (mutations C733R and c.5220-5222delTCT; and mutations A1046D and c.4629-4630insA), despite severely inhibited cholesterol efflux.
|
15066991 |
2004 |
rs778885878
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A new mutation (R1068H) within the first ATP-binding domain was identified in homozygous form in the Tangier disease individual and was present in several family members.
|
16225879 |
2006 |
rs2853578
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Previously, we showed that an ABCA1 Q597R mutant (QR) identified in TD is retained in the endoplasmic reticulum.
|
18343215 |
2008 |
rs137854496
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The Tangier disease mutation W590S, which resides in the extracellular domain and impairs apoA-I-dependent lipid efflux, greatly decreased NaTC-dependent cholesterol and phospholipid efflux.
|
19202195 |
2009 |
rs575627531
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency.
|
19723515 |
2009 |
rs374404992
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Compound heterozygosity for the nonsense mutation R282X and the missense mutation Y1532C in the ABCA1 gene causes Tangier disease.
|
19765707 |
2010 |
rs1225973801
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Compound heterozygosity for the nonsense mutation R282X and the missense mutation Y1532C in the ABCA1 gene causes Tangier disease.
|
19765707 |
2010 |
rs778885878
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Cholesterol efflux studies showed the efflux from TD fibroblasts and HEK293 cells expressing the mutant p.R1068H protein to be markedly reduced compared to wildtype.
|
21763656 |
2011 |
rs137854496
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Depletion of sphingomyelin in stably transfected HEK293 cells expressing the Tangier disease W590S mutant ABCA1 isoform rescued the defect in PS exposure and restored cholesterol efflux to apoAI.
|
24220029 |
2013 |