von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
New mass spectrometry strategies are applied to resolve the structural effects of 2B and 2M mutations in VWF to verify the presence of A1 domain structural disorder in multimeric VWF harboring type 2 VWD mutations.
|
31628947 |
2020 |
von Willebrand Disease, Type 2
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Type 2 VWD was diagnosed if VWF activity to antigen ratio was ≤0.6.
|
31359769 |
2020 |
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
Patients with VWD type 2 showed a significant increase of VWF:Ag (p = 0.003) and FVIII:C (p = 0.011), and a non-significant increase of VWF:RCo (p = 0.097).
|
31085919 |
2019 |
von Willebrand Disease, Type 2
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Similarly, women with type 2 VWD who maintain reduced VWF activity throughout pregnancy require replacement therapy with FVIII/VWF concentrates.
|
31107984 |
2019 |
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic variants of VWF gene in type 2 von Willebrand disease.
|
30817071 |
2019 |
von Willebrand Disease, Type 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
von Willebrand Disease, Type 2
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
There was no association between comorbidities and VWF/FVIII levels or bleeding phenotype in type 2 VWD patients.
|
29767844 |
2018 |
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
Results Based on the three most used VWD parameters (FVIII:C, VWF:Ag and VWF:GPIb-binding activity) and using a cut-off of <0.70 for type 2 VWD revealed sensitivity and specificity of, respectively, 92% and 72.4% for VWF:RCo/VWF:Ag, 84% and 89.7% for VWF:GPIbR/VWF:Ag, and 92% and 85.1% for VWF:GPIbM/VWF:Ag, whereas a lowered cut-off of < 0.60 resulted in reduced sensitivity with increased specificity for all assays.
|
29742318 |
2018 |
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
The VWF multimer assay by Sebia is easy to perform and can be successfully implemented in any clinical laboratory for second-stage evaluation of VWD.
|
29453814 |
2018 |
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
VWD is reportedly the most common inherited bleeding disorder and can be classified into quantitative and qualitative defects, with type 1 and 3 VWD respectively identifying partial and total quantitative deficiency of VWF, and type 2 VWD identifying qualitative defects of VWF.
|
30306084 |
2018 |
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.
|
28971901 |
2017 |
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
The Von Willebrand Factor A1-Collagen III Interaction Is Independent of Conformation and Type 2 Von Willebrand Disease Phenotype.
|
27889474 |
2017 |
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers.
|
28696025 |
2017 |
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
MGD |
A genetically-engineered von Willebrand disease type 2B mouse model displays defects in hemostasis and inflammation.
|
27212476 |
2016 |
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
We developed an enzyme-linked immunosorbent assay (ELISA) to measure the various activities of VWF on a single plate and evaluated 160 patient samples enrolled in the Zimmerman Program for the Molecular and Clinical Biology of von Willebrand Disease with type 2 VWD.
|
26917779 |
2016 |
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
The aim of the study was to assess whether 2M VWD, defining qualitative defects not associated with loss of high molecular weight (HMW) VWF, is often misidentified, given highly variable reported frequency ranging from 0 to ~60% of all type 2 VWD.
|
27029718 |
2016 |
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
Type 2 von Willebrand disease (VWD) includes a wide range of qualitative abnormalities of von Willebrand factor structure and function resulting in a variable bleeding tendency.
|
25477497 |
2015 |
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We evaluated a 24-member pedigree with VWD type 2 caused by a T>G mutation at position 3911 that predicts a methionine to arginine (M1304R) change in the platelet-binding A1 domain of von Willebrand factor (VWF).
|
26019279 |
2015 |
von Willebrand Disease, Type 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
Diagnosis of von Willebrand disease (VWD) type 2 usually relies on the discrepancy between the von Willebrand factor (VWF) ristocetin cofactor activity (VWF:RCo) and VWF antigen (VWF:Ag).
|
26206100 |
2015 |
von Willebrand Disease, Type 2
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Caused by mutations in the von Willebrand factor (VWF) gene, these defects result in qualitatively abnormal variants of VWF (classi#ed as type 2 VWD) or a decrease in VWF levels (types 1 and 3 VWD).
|
24914743 |
2014 |
von Willebrand Disease, Type 2
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Basic classification of quantitative (type 1 and 3) and qualitative (type 2) VWD variants requires determination of VWF antigenic (VWF:Ag) levels and assaying of VWF ristocetin cofactor (VWF:RCo) activity, determining the capacity of VWF to interact with the platelet GPIb-receptor.
|
24762278 |
2014 |
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sequence variations in type 2 VWD are located in the region corresponding to the defect in the VWF protein found in each type 2 variant.
|
25696906 |
2014 |
von Willebrand Disease, Type 2
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Levels of VWF mRNA and protein were normal in BOECs from 3 type 2 VWD patients, supporting the dysfunctional VWF model.
|
23355534 |
2013 |
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Exon 28 of the VWF gene is known to be a hot spot for type 2 VWD mutations.
|
23179108 |
2013 |
von Willebrand Disease, Type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
VWD is classified into quantitative deficiencies of VWF (type 1 and type 3 VWD) and qualitative variants (type 2 VWD), because of a dysfunctional VWF.
|
23852183 |
2013 |