|
rs137852912
|
|
|
0.740 |
GeneticVariation |
BEFREE |
We have hypothesized that transgenic Ossabaw swine expressing chimp <i>PCSK9</i> (proprotein convertase subtilisin-like/kexin type 9) containing the D374Y gain of function would develop familial hypercholesterolemia and coronary artery plaques more rapidly than Landrace swine with the same transgene.
|
29572319 |
2018 |
|
rs137852912
|
|
|
0.740 |
GeneticVariation |
BEFREE |
PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.
|
28777095 |
2017 |
|
rs137852912
|
|
|
0.740 |
GeneticVariation |
BEFREE |
D374Y gain-of-function mutations in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene cause severe autosomal dominant hypercholesterolemia and accelerates atherosclerosis in humans.
|
23283366 |
2013 |
|
rs137852912
|
|
|
0.740 |
GeneticVariation |
BEFREE |
We measured plasma PCSK9 concentrations in healthy men with a PCSK9 (proprotein convertase subtilisin/kexin type 9) loss-of-function variant (p.R46L), in statin-treated patients with a clinical diagnosis of familial hypercholesterolemia (FH) and carrying a PCSK9 gain-of-function mutation (p.D374Y), and in statin-treated patients with FH due to different genetic causes.
|
19797716 |
2009 |
|
rs137852912
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
|
|
|
|
rs11591147
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Even though the R46L variant was present in 3% of our FH population, carriers of this polymorphism showed attenuated effect of the low density lipoprotein receptor mutation on parameters, such as low density lipoprotein cholesterol, apolipoprotein B, total cholesterol, and non-high density lipoprotein.
|
25278291 |
2014 |
|
rs11591147
|
|
|
0.030 |
GeneticVariation |
BEFREE |
1130 unrelated subjects with molecularly defined FH were screened for mutation R46L in the PCSK9 gene and cell culture experiments were performed to study the effect of high concentrations of low density lipoprotein (LDL) on the binding of PCSK9 to the LDL receptor (LDLR).
|
19917273 |
2010 |
|
rs11591147
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We measured plasma PCSK9 concentrations in healthy men with a PCSK9 (proprotein convertase subtilisin/kexin type 9) loss-of-function variant (p.R46L), in statin-treated patients with a clinical diagnosis of familial hypercholesterolemia (FH) and carrying a PCSK9 gain-of-function mutation (p.D374Y), and in statin-treated patients with FH due to different genetic causes.
|
19797716 |
2009 |
|
rs564427867
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Mean plasma total cholesterol (TC) (9.93 ± 2.95 mmol/L, mean ± SD) in true homo-FH cases with PCSK9 E32K or double hetero-FH cases with PCSK9 E32K and LDLR mutations were significantly lower than those in true homo-FH (18.06 ± 4.96 mmol/L) and compound heterozygous cases with LDLR mutations (14.84 ± 1.62 mmol/L).
|
25014035 |
2014 |
|
rs564427867
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Three cases representing homozygous FH phenotypes were double heterozygous for PCSK9 E32K and LDLR C183S, C292X or K790X.
|
20006333 |
2010 |
|
rs143394031
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We demonstrated that p.(Arg499His) PCSK9 variant causes a direct intracellular degradation of LDLr therefore causing FH by reducing LDLr availability.
|
31518966 |
2019 |
|
rs374603772
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This is the first study from a Turkish FH cohort, revealing a higher frequency (approximately 14%) of two PCSK9 GOF mutations (D374Y and R496W) and a different disease course compared to the world literature.
|
28777095 |
2017 |
|
rs1553135971
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Only, the S127R and D129G mutations modify a highly conserved residue and segregate with the FH phenotype.
|
17765244 |
2008 |
|
rs28942111
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Only, the S127R and D129G mutations modify a highly conserved residue and segregate with the FH phenotype.
|
17765244 |
2008 |