HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.
|
28777095 |
2017 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia.
|
27206942 |
2017 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations.
|
27896130 |
2016 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.
|
27280970 |
2016 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.
|
26374825 |
2015 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.
|
25014035 |
2014 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family.
|
24607922 |
2014 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Annexin A2 reduces PCSK9 protein levels via a translational mechanism and interacts with the M1 and M2 domains of PCSK9.
|
24808179 |
2014 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study.
|
23433573 |
2013 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.
|
23680767 |
2013 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.
|
22683120 |
2012 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation.
|
20006333 |
2010 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells.
|
19081568 |
2009 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells.
|
19081568 |
2009 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Investigations on the evolutionary conservation of PCSK9 reveal a functionally important protrusion.
|
18631360 |
2008 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Annexin A2 is a C-terminal PCSK9-binding protein that regulates endogenous low density lipoprotein receptor levels.
|
18799458 |
2008 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa.
|
17765244 |
2008 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of novel mutations in the catalytic domain of the PCSK9 gene.
|
18266662 |
2008 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia.
|
16183066 |
2006 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote.
|
16909389 |
2006 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
|
12730697 |
2003 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|