|
rs6025
|
|
Activated Protein C Resistance
|
|
0.800 |
GeneticVariation
|
BEFREE |
To compare the accuracy and reliability of phenotypic activated protein C resistance (aPC-R) assays with a genotypic assay for the factor V Leiden F5 p.R506Q (FVL) mutation.
|
30423028 |
2019 |
|
rs6025
|
|
Activated Protein C Resistance
|
|
0.800 |
GeneticVariation
|
BEFREE |
Furthermore, high levels of factor IX and low levels of free protein S were associated with increased risk for PE, whereas aPC resistance and F5 rs6025 were risk factors for DVT and not PE.
|
23015030 |
2012 |
|
rs6025
|
|
Activated Protein C Resistance
|
|
0.800 |
GeneticVariation
|
BEFREE |
The Factor V Leiden mutation (FVL; c.1601G>A, p.Arg534Gln), the most common aberration underlying activated Protein C resistance, results in disruption of a major anticoagulation pathway and is a leading cause of inherited thrombophilia.
|
21254846 |
2011 |
|
rs6025
|
|
Activated Protein C Resistance
|
|
0.800 |
GeneticVariation
|
BEFREE |
A point mutation in the coagulation factor V gene (G1691-->A, resulting in an Arg506-->Gln amino acid substitution in the factor V molecule [factor VLEIDEN], leading to activated protein C resistance) is the most common genetic risk factor for familial thrombophilia.
|
9974416 |
1999 |
|
rs6025
|
|
Activated Protein C Resistance
|
|
0.800 |
GeneticVariation
|
BEFREE |
Among LA patients without the R506Q mutation, 5 scored positive in the aPCR-tissue factor-based assay, 2 in the aPCR-dRVVT-based assay and another one in both assays.
|
9716147 |
1998 |
|
rs6025
|
|
Activated Protein C Resistance
|
|
0.800 |
GeneticVariation
|
BEFREE |
In most cases APC resistance is due to a single point mutation in the factor V gene leading to a replacement of Arg506 with Gln (factor V Leiden).
|
9763354 |
1998 |
|
rs6025
|
|
Activated Protein C Resistance
|
|
0.800 |
GeneticVariation
|
BEFREE |
Low prevalence of activated protein C resistance and coagulation factor V Arg506 to Gln mutation among Korean patients with deep vein thrombosis.
|
9886165 |
1998 |
|
rs6025
|
|
Activated Protein C Resistance
|
|
0.800 |
GeneticVariation
|
BEFREE |
Factor VThr306 is the first description of a mutation affecting the Arg306 APC cleavage site and is the only mutation, other than factor V Leiden (Arg506-->Gln), that has been found in association with APC resistance.
|
9454742 |
1998 |
|
rs6025
|
|
Activated Protein C Resistance
|
|
0.800 |
GeneticVariation
|
BEFREE |
Factor V Leiden (factor V Arg506Gln), the genetic defect underlying resistance to activated protein C, is the most common risk factor for venous thrombosis.
|
9108400 |
1997 |
|
rs6025
|
|
Activated Protein C Resistance
|
|
0.800 |
GeneticVariation
|
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 |
|
rs6025
|
|
Activated Protein C Resistance
|
|
0.800 |
GeneticVariation
|
BEFREE |
A recently discovered mutation in coagulation factor V (Arg506-->Gln, referred to as factor V Leiden), which results in resistance to activated protein C, is found in approximately one fifth of patients with venous thromboembolism.
|
9010145 |
1997 |
|
rs6025
|
|
Activated Protein C Resistance
|
|
0.800 |
GeneticVariation
|
BEFREE |
We report on two patients with HELLP syndrome who were found to be heterozygous for factor V R506Q mutation, leading to activated protein C resistance.
|
8616100 |
1996 |
|
rs6025
|
|
Activated Protein C Resistance
|
|
0.800 |
GeneticVariation
|
BEFREE |
Low prevalence of activated protein C resistance and coagulation factor V Arg506 to Gln mutation among Japanese patients with various forms of thrombosis, and normal individuals.
|
8990627 |
1996 |
|
rs6025
|
|
Activated Protein C Resistance
|
|
0.800 |
GeneticVariation
|
BEFREE |
Seventy women with thrombosis in pregnancy were investigated for the presence of APC resistance and the associated Arg506-Gln mutation in coagulation factor V. The mutation was found in 46% of the investigated women.
|
8603019 |
1996 |
|
rs6025
|
|
Activated Protein C Resistance
|
|
0.800 |
GeneticVariation
|
BEFREE |
In Hispanic patients with ischemic stroke, the incidence (approximately 10%) of APC resistance is not caused by the factor V Arg506-->Gln mutation.
|
8685921 |
1996 |
|
rs6025
|
|
Activated Protein C Resistance
|
|
0.800 |
GeneticVariation
|
BEFREE |
We recently reported a high prevalence of the FV Leiden mutation (R506Q, responsible for Activated Protein C resistance) among symptomatic protein C deficient probands (19%), and the involvement of the FV Leiden mutation in the expression of thrombophilia in six protein C deficient families.
|
8584987 |
1995 |
|
rs751377893
|
|
Activated Protein C Resistance
|
|
0.030 |
GeneticVariation
|
BEFREE |
The diagnosis of factor V Leiden thrombophilia is established in a proband by identification of a heterozygous or homozygous c.1691G>A variant (referred to as the factor V Leiden variant in <i>F5</i>, the gene encoding factor V) in conjunction with coagulation tests such as the APC resistance assay.
|
29294595 |
2018 |
|
rs751377893
|
|
Activated Protein C Resistance
|
|
0.030 |
GeneticVariation
|
BEFREE |
Also, in comparison with patients with LDVT carrying GG genotype of FV gene 1691G>A polymorphism, the following activities reduced significantly: prothrombin time, activated partial thromboplastin time, fibrinogen, protein C, and protein S, while activated protein C resistance and lupus anticoagulant positive rate increased in patients carrying A allele (GA + AA).
|
29851809 |
2018 |
|
rs751377893
|
|
Activated Protein C Resistance
|
|
0.030 |
GeneticVariation
|
BEFREE |
Evidence against heterozygous coagulation factor V 1691 G-->A mutation with resistance to activated protein C being a risk factor for coronary artery disease and myocardial infarction.
|
8581514 |
1995 |
|
rs118203906
|
|
Activated Protein C Resistance
|
|
0.010 |
GeneticVariation
|
BEFREE |
Factor V Cambridge: a new mutation (Arg306-->Thr) associated with resistance to activated protein C.
|
9454742 |
1998 |
|
rs118203907
|
|
Activated Protein C Resistance
|
|
0.010 |
GeneticVariation
|
BEFREE |
Carriership of the FV Y1702C mutation was tested in 8 patients with severe FV deficiency (FV:C <8%), in 16 individuals with asymptomatic partial FV deficiency (mean FV:C 38.0%, SD 11.6%) and in 9 patients with pseudo-homozygous APC-resistance (mean FV:C 46.2%, SD 3.6%).
|
11418372 |
2001 |
|
rs118203911
|
|
Activated Protein C Resistance
|
|
0.010 |
GeneticVariation
|
BEFREE |
We suggest that the FV I359T substitution confers pro-thrombotic risk and APCR, but that this is only clinically manifest when co-inherited with the FV E119X allele.
|
14617013 |
2003 |
|
rs1312546120
|
|
Activated Protein C Resistance
|
|
0.010 |
GeneticVariation
|
BEFREE |
Impaired APC cofactor activity of factor V plays a major role in the APC resistance associated with the factor V Leiden (R506Q) and R2 (H1299R) mutations.
|
14976057 |
2004 |