|
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 |
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 |
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 |
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 |
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 |
Our results show that the HR2 haplotype is not associated with an increased risk of venous thrombosis or with a reduced sensitivity for APC in non-FVL carriers.
|
10780320 |
2000 |
|
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 |
We determined activated partial-thromboplastin times in the presence and absence of activated protein C and tested for the factor V Leiden mutation in 45 members of seven unrelated consanguineous kindreds in which at least 1 member was homozygous for homocystinuria.
|
8592550 |
1996 |
|
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 |
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 |
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 |
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 |
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 |
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 |
The well-recognized inherited thrombophilic states include resistance to activated protein C (APC) (Factor V Leiden) and deficiencies of plasma antithrombin, protein C, and protein S. These entities are aberrations in the natural anticoagulant systems that exist in plasma and at the endothelial cell level.
|
9840687 |
1998 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
To investigate the association of both response to APC and the factor V Leiden mutation with arterial disease.
|
8678388 |
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 |
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 |
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 |