|
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 |
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 |
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 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 |
Biomarker
|
disease |
BEFREE |
Activated protein C (APC) resistance caused by the factor V Leiden mutation is associated with an increased risk of venous thrombosis.
|
9949170 |
1999 |
|
Factor V Leiden mutation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Abnormal APC ratios were confirmed to be due to FVL using a heteroduplex-based polymerase chain reaction (PCR) technique.
|
10563542 |
1999 |
|
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 |
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 |
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 |
|
Factor V Leiden mutation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Between 1 January and 31 December 1996, activated protein C (APC) resistance and factor V Leiden mutation were prospectively measured in 56 nonpregnant women, with a history of two or more unexplained recurrent pregnancy losses.
|
10740341 |
2000 |
|
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 |
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 |
Children found resistant to activated protein C had DNA analysis for the factor V Leiden mutation.
|
8774498 |
1996 |
|
Factor V Leiden mutation
|
0.100 |
Biomarker
|
disease |
BEFREE |
DNA analysis confirmed the presence of the 1691GA mutation in the factor V gene (factor V Leiden) in all patients with a normalized APC sensitivity ratio of less than 0.70.
|
7740584 |
1995 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
High factor VIII plasma levels have been shown to represent a common increased risk for venous thromboembolism (VTE) and may cause an activated protein C (APC) resistance in the absence of the factor V Leiden mutation, but there are no studies specifically aimed to establish if high factor VIII and von Willebrand factor (vWF) concentrations may influence the APC sensitivity ratio (APC-SR) and increase the risk for VTE in the presence of the factor V Leiden mutation.
|
10695766 |
1999 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
In over 90% of cases, the basis for the APC resistance is a mutation in the coagulation factor V gene (factor V Leiden) that renders the protein more resistant to inactivation by APC.
|
9842043 |
1998 |
|
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 |
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 |
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 |
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 |
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 |