|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Background The most common cause of activated protein C (aPC) resistance is a missense substitution (Arg506Gln), known as Factor V Leiden (FVL).
|
30903752 |
2019 |
|
Factor V Leiden mutation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Both infection and the factor V Leiden mutation reduce the formation of APC from protein C in the blood.
|
27858977 |
2017 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The discovery of the factor V Leiden (FVL) missense mutation (Arg506Gln) causing factor V resistance to the anticoagulant action of activated protein C was a landmark that allowed a better understanding of the basis of inherited thrombotic risk.
|
27797270 |
2016 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PC activity ranged from 5% to 9%, and PC antigen levels were 5,3% in two homozygous for PROC missense mutation Arg32Cys; PC activity ranged from 18% to 60% and antigen levels from 21% to 64%, respectively, in 11 heterozygous for Arg32Cys; PC activity was 99% and 120% in two wild type.Of 15, eight were heterozygous for FVL.
|
22168450 |
2012 |
|
Factor V Leiden mutation
|
0.100 |
Biomarker
|
disease |
BEFREE |
The laboratory diagnosis is based on two tests: a phenotypic test based on APTT with and without APC and a genotypic test based on detection of a Factor V Leiden mutation.
|
21511556 |
2011 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Resistance to activated protein C (aPC) is most commonly due to the F5 rs6025 (factor V Leiden) polymorphism, which increases the risk of venous thrombosis.
|
21564075 |
2011 |
|
Factor V Leiden mutation
|
0.100 |
Biomarker
|
disease |
BEFREE |
The presumed cause of congenital thrombophilia can now be explained in ~50% of familial thrombosis cases following evaluation of a range of markers, primarily comprising factor V Leiden (FVL), activated protein C resistance (APCR), protein C (PC), protein S (PS) and antithrombin (AT).
|
21436638 |
2011 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Factor V Leiden (FVL) is the most common monogenic disorder that causes activated protein C (APC) resistance, creating hyper-coagulation.
|
19617246 |
2010 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thrombophilia screening is aimed at detecting the most frequent and well-defined causes of venous thrombosis, such as activated protein C resistance/factor V Leiden mutation, prothrombin G20210A gene mutation, deficiencies of natural anticoagulants, such as antithrombin, protein C and protein S, the presence of antiphospholipid antibodies, hyperhomocysteinemia and increased factor VIII activity.
|
21054193 |
2010 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
One of the most common hereditary thrombophilias is the factor V Leiden mutation, which is identified with a screening assay for activated protein C (APC) resistance and confirmed by DNA analysis.
|
18854273 |
2008 |
|
Factor V Leiden mutation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Although the propensity to thrombosis is increased in individuals with type 1 diabetes, activated protein C sensitivity ratio and factor V Leiden mutation do not appear to be significant determinants.
|
18180619 |
2008 |
|
Factor V Leiden mutation
|
0.100 |
Biomarker
|
disease |
BEFREE |
The efficiency of a new prothrombin-based activated protein C (APC) resistance test to detect factor V Leiden (FVL) was clinically evaluated in 150 Italian patients with deep venous thrombosis.
|
17890946 |
2007 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Carriers of the factor V Leiden mutation (FVL) are resistant to activated protein C proteolysis.
|
17413905 |
2007 |
|
Factor V Leiden mutation
|
0.100 |
Biomarker
|
disease |
BEFREE |
The APCR(FVL-) group had similar mean APC resistance ratio as the heterozygous carriers of FVL.
|
16420566 |
2006 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
If we had sequenced the F5 gene in patients homozygous for this haplotype, in order to locate the possible causal polymorphism, we would have found that 16 (76%) patients were homozygous or heterozygous for a missense mutation in exon 10 (1691G --> A), which predicts the replacement of Arg506 by Gln in one of the cleavage sites for activated protein C, a mutation that we now know as the FVL mutation.
|
15054398 |
2004 |
|
Factor V Leiden mutation
|
0.100 |
Biomarker
|
disease |
BEFREE |
We sought to confirm that carriers of this prothrombotic factor V Leiden mutation do not have an increased risk of developing severe sepsis and that carriers with severe sepsis derive similar treatment benefit from recombinant human activated protein C (drotrecogin alfa [activated]) as non-factor V Leiden carriers.
|
15118525 |
2004 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Activated protein C (APC) resistance is a common risk factor for venous thromboembolism (VTE) attributed to various mechanisms, including factor V Leiden (FVL) polymorphism.
|
12520697 |
2003 |
|
Factor V Leiden mutation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Fourteen patients (23%) were found to have a baseline-reduced response to activated protein C (APC) in the absence of factor V Leiden mutation.
|
11943931 |
2002 |
|
Factor V Leiden mutation
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
It is caused by a single point mutation in the FV gene (factor V(Leiden)) that not only renders FVa less susceptible to the proteolytic inactivation by APC but also impairs the anticoagulant properties of FV.
|
11950687 |
2002 |
|
Factor V Leiden mutation
|
0.100 |
Biomarker
|
disease |
BEFREE |
To assess international and local trends in laboratory testing for activated protein C (APC) resistance (APCR) and factor V Leiden (FVL).
|
12190294 |
2002 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The activated protein C (APC) resistance phenotype associated with an abnormal factor V Leiden (FVL), and the G20210A prothrombin gene mutation are the most common findings in patients with venous thromboembolism (VTE).
|
12413582 |
2002 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most common inherited thrombotic disorders include activated protein C (APC) resistance (factor V Leiden), hyperhomocysteinemia, the prothrombin gene variant G20210A, elevated factor VIII levels, and deficiencies of thrombomodulin, protein C, protein S, and antithrombin.
|
11754415 |
2001 |
|
Factor V Leiden mutation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Activated protein C (APC) resistance, both in its congenital form, due to the factor V Leiden mutation, and in its acquired form, are important risk factors for systemic venous thrombosis.
|
11331645 |
2001 |
|
Factor V Leiden mutation
|
0.100 |
Biomarker
|
disease |
BEFREE |
The activated protein C (APC) resistant-factor V (factor V Leiden) has emerged as the most common inherited risk factor for thrombosis in the Caucasian population.
|
11685046 |
2001 |
|
Factor V Leiden mutation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Because activated protein C resistance is a common risk factor for venous thromboembolism, we prospectively evaluated the activated protein C sensitivity ratio and factor V Leiden mutation in cancer patients with and without venous thromboembolism.
|
11165549 |
2001 |