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rs137852912
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Huh7 human hepatoma cells were transiently transfected to overexpress the gain-of-function D374Y PCSK9 mutation, which has been associated with severe hypercholesterolemia in humans.
|
31564372 |
2020 |
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rs137852912
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Additionally, in the entire study group (n=401), PCSK9 R496W and D374Y mutation carriers had increased total cholesterol (p=0.021), triglycerides (p=0.0001), HDL cholesterol (p=0.028), and low-density lipoproteins (LDL) cholesterol (p=0.028) levels.
|
29724976 |
2018 |
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rs137852912
|
|
|
0.100 |
GeneticVariation |
BEFREE |
D374Y-PCSK9 transgenic pigs displayed reduced hepatic low-density lipoprotein (LDL) receptor levels, impaired LDL clearance, severe hypercholesterolemia, and spontaneous development of progressive atherosclerotic lesions that could be visualized by noninvasive imaging.
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23283366 |
2013 |
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rs137852912
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The expression of human D374Y PCSK9 at physiological levels produced a phenotype that closely matched that found in heterozygous D374Y patients and suggested that reduced low-density lipoprotein receptor activity is not the sole cause of their hypercholesterolemia.
|
20448210 |
2010 |
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rs137852912
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To block secreted PCSK9 activity, LDLR (H306Y) subfragments were added to the medium of HepG2 cells stably overexpressing wild-type PCSK9 or gain-of-function PCSK9 mutants associated with hypercholesterolemia (D374Y or S127R).
|
19224862 |
2009 |
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rs137852912
|
|
|
0.100 |
GeneticVariation |
BEFREE |
PCSK9 mutant proteins associated with hypercholesterolemia (S127R and D374Y) are more potent in decreasing LDL uptake than is wild-type PCSK9.
|
18354137 |
2008 |
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rs137852912
|
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|
0.100 |
GeneticVariation |
BEFREE |
Using this cell-based assay of PCSK9 activity, we found that the relative potencies of several PCSK9 missense mutants (S127R and D374Y, associated with hypercholesterolemia, and R46L, associated with hypocholesterolemia) correlate with LDL cholesterol levels in humans carrying such mutations.
|
17493938 |
2007 |
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rs137852912
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The D374Y gain-of-function mutant, associated with hypercholesterolemia and early-onset cardiovascular disease, binds the receptor 25 times more tightly than wild-type PCSK9 at neutral pH and remains exclusively in a high-affinity complex at the acidic pH.
|
17435765 |
2007 |
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rs137852912
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The objective of this study was to investigate possible mechanisms by which mutation D374Y in the PCSK9 gene causes hypercholesterolemia.
|
16777760 |
2006 |
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rs137852912
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response.
|
16224054 |
2005 |
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rs137852912
|
|
|
0.100 |
GeneticVariation |
BEFREE |
D374Y segregated with hypercholesterolemia in the two former families where family members were available for study.
|
15099351 |
2004 |