|
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 |
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 |
The molecular basis of APC resistance is a single-point mutation (arginine506-glutamine) in the gene that encodes for coagulation factor V. This mutation results in a factor V molecule (factor V(Leiden)) that is less effectively downregulated by APC than is normal factor V. The gold standard for the detection of this defect is DNA analysis.
|
9128263 |
1997 |
|
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 |
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 |
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 |
There was considerable overlap in APC ratios in the range of 2 to 3 between subjects with a normal factor V genotype and heterozygotes for factor V Leiden.
|
8701918 |
1996 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Resistance to APC is associated with a single nucleotide change in the factor V gene (G1691-->A) corresponding to a single amino acid substitution in the factor V molecule: Arg506-->Gln (factor V Leiden).
|
8639839 |
1996 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Activated protein C (APC) resistance is a common risk factor for venous thromboembolism and is associated with the replacement of Arg 506 by Gln in the factor V gene (factor V Leiden).
|
8815565 |
1996 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Activated protein C (APC) resistance, defined as a low APC ratio, is associated with the factor V mutation R506Q (factor V Leiden).
|
10404768 |
1999 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Resistance to activated protein C (APC) is a common inherited risk factor for venous thrombosis, which is associated with a mutation in coagulation factor V (factor V Leiden).
|
7888671 |
1995 |
|
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 |
Carriers of the factor V Leiden mutation (FVL) are resistant to activated protein C proteolysis.
|
17413905 |
2007 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The relationship between the distribution of normalized APC ratios obtained with the functional assay and haplotype frequency was analyzed in patients heterozygous for factor V R506Q (factor V Leiden).
|
9269773 |
1997 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Factor V is an important blood coagulation factor, the procoagulatory activity of which is inhibited by activated protein C. The factor V Leiden mutation is due to a single base-pair change (G1691A), which alters the initial cleavage site for activated protein C. The impaired degradation of factor V by activated protein C yields a hypercoagulable state that confers a lifelong increased risk of thrombosis in heterozygous and homozygous individuals.
|
11342806 |
2001 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Most individuals with resistance to activated protein C (APCR) are the result of a point mutation replacing Arg 506 with Gln in the factor V aminoacidic sequence (factor V Leiden).
|
9499670 |
1998 |
|
Factor V Leiden mutation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
More recently, laboratory investigations have been expanded to include activated protein C (APC) resistance, attributable or not to the presence of the factor V Leiden mutation; hyperprothrombinemia attributable to the presence of the prothrombin gene mutation G20210A; and hyperhomocysteinemia attributable to impairment of the relevant metabolic pathway because of enzymatic and/or vitamin deficiencies.
|
11514392 |
2001 |
|
Factor V Leiden mutation
|
0.100 |
Biomarker
|
disease |
BEFREE |
In the present study a new clotting assay for the detection of an increased resistance of coagulation factor V against degradation by activated protein C (Factor V Leiden mutation, FVLM) was evaluated.
|
10574590 |
1999 |
|
Factor V Leiden mutation
|
0.100 |
Biomarker
|
disease |
BEFREE |
This study examined the anticoagulant response to activated protein C (APC ratio) in relation to the surgical trauma and the significance of the factor V Leiden mutation in determining postoperative thrombin generation and fibrin formation and the risk of early vein graft occlusion.
|
9716141 |
1998 |
|
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 |