|
von Willebrand Disease, Type 2A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report a novel VWF variant, a heterozygous single nucleotide change, c.4493A>G, occurring at the p.Asp1498 residue of the calcium-binding site of the A2 domain in two sisters with type 2A von Willebrand disease.
|
30762591 |
2019 |
|
von Willebrand Disease, Type 2A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We investigated 11 VWF A2 domain variants identified in patients with type 2A VWD.
|
29186156 |
2017 |
|
von Willebrand Disease, Type 2A
|
0.500 |
Biomarker
|
disease |
BEFREE |
Recombinant von Willebrand factor for severe gastrointestinal bleeding unresponsive to other treatments in a patient with type 2A von Willebrand disease: a case report.
|
28379876 |
2017 |
|
von Willebrand Disease, Type 2A
|
0.500 |
Biomarker
|
disease |
BEFREE |
This ELISA was assessed successively in a LVAD-model, healthy subjects (n=39), acquired TTP-patients (n=4), VWD-patients (including VWD-2A(IIA), n=22; VWD-2B, n=26; VWD-2A(IIE), n=21; and VWD-1C, n=8) and in AVWS-patients (AS, n=9; LVAD, n=9; and MGUS, n=8).
|
26791163 |
2016 |
|
von Willebrand Disease, Type 2A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Co-expressions of wild-type von Willebrand factor and p.Cys2085Tyr, p.Cys2327Trp and p.Cys2283Arg demonstrated defective multimer assembly, suggesting a new pathological mechanism for dominant type 2A von Willebrand disease due to mutations in D4 and B domains.
|
23539537 |
2013 |
|
von Willebrand Disease, Type 2A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Patients with von Willebrand disease type 2A present with increased bleeding due to mutations within the VWF A2 domain that enhance cleavage.
|
23322777 |
2013 |
|
von Willebrand Disease, Type 2A
|
0.500 |
Biomarker
|
disease |
BEFREE |
Modeling ADAMTS13-von Willebrand factor interaction: Implications for oxidative stress-related cardiovascular diseases and type 2A von Willebrand disease.
|
21937160 |
2012 |
|
von Willebrand Disease, Type 2A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification and functional analysis of a novel von Willebrand factor mutation in a family with type 2A von Willebrand disease.
|
22479377 |
2012 |
|
von Willebrand Disease, Type 2A
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Mean bleeding score (BS) and VWF antigen at enrollment were significantly higher in VWD2A patients (P = 0.007).
|
22329792 |
2012 |
|
von Willebrand Disease, Type 2A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Factor VIII/von Willebrand factor concentrate was also required for two women with type 2 A von Willebrand's disease with V1665E mutations who had no von Willebrand factor activity change during pregnancy.
|
19951969 |
2010 |
|
von Willebrand Disease, Type 2A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Dominant von Willebrand disease type 2A groups I and II due to missense mutations in the A2 domain of the von Willebrand factor gene: diagnosis and management.
|
19506362 |
2009 |
|
von Willebrand Disease, Type 2A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
L1503R is a member of group I mutation and has dominant-negative effect on secretion of full-length VWF multimers: an analysis of two patients with type 2A von Willebrand disease.
|
18397285 |
2008 |
|
von Willebrand Disease, Type 2A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This peculiar type 2B VWF variant showed a remarkably high affinity for the GPIbalpha platelet receptor, leading to the loss of high and intermediate molecular weight multimers and hence to decreased RIPA, as in type 2A VWD.
|
17155947 |
2007 |
|
von Willebrand Disease, Type 2A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A patient with type 2A von Willebrand disease and a long history of gastrointestinal (GI) bleeding is presented, in whom no abnormality was found on sequencing the von Willebrand factor gene at the DNA level.
|
16708129 |
2006 |
|
von Willebrand Disease, Type 2A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We identified heterozygous substitutions, C1157F and C1234W, in the VWF D3 domain in two unrelated families with unclassified and type 2A von Willebrand disease, respectively.
|
16409464 |
2006 |
|
von Willebrand Disease, Type 2A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Type 2A von Willebrand's disease (VWD) refers to disease variants with decreased platelet-dependent function of von Willebrand factor (VWF) associated with the absence of high molecular weight (HMW) multimers.
|
15377475 |
2004 |
|
von Willebrand Disease, Type 2A
|
0.500 |
Biomarker
|
disease |
BEFREE |
Type 2A von Willebrand disease (VWD) is characterized by decreased platelet-dependent function of von Willebrand factor (VWF) associated with an absence of high-molecular-weight multimers.
|
15219197 |
2004 |
|
von Willebrand Disease, Type 2A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
C1272S: a new candidate mutation in type 2A von Willebrand disease that disrupts the disulfide loop responsible for the interaction of VWF with platelet GP Ib-IX.
|
14755371 |
2004 |
|
von Willebrand Disease, Type 2A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Type 2A von Willebrand disease (VWD) is mostly an autosomal dominantly inherited bleeding disorder characterised by a qualitative defect of von Willebrand factor (VWF).
|
11019957 |
2000 |
|
von Willebrand Disease, Type 2A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Patients with type 2A von Willebrand's disease (VWD) commonly have missense mutations in the A2 domain of the von Willebrand factor (VWF) protein.
|
9054649 |
1997 |
|
von Willebrand Disease, Type 2A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We studied the biosynthesis of recombinant von Willebrand factor (vWF) containing each of two type 2A vWD mutations previously reported by us, Arg834Gln and Val902Glu.
|
8639896 |
1996 |
|
von Willebrand Disease, Type 2A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This report examines the type IIA vWD mutations Leu777-->Pro and Ile865-->Thr by expression of recombinant vWF containing mutant and wild-type (WT) sequences.
|
8123844 |
1994 |
|
von Willebrand Disease, Type 2A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two new candidate mutations in type IIA von Willebrand's disease (Arg834-->Gly, Gly846-->Arg) and one polymorphism (Tyr821-->Cys) in the A2 region of the von Willebrand factor.
|
8348943 |
1993 |
|
von Willebrand Disease, Type 2A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations reported to cause vWD type IIA are clustered within the A2 domain of vWF, which is encoded by exon 28.
|
8338947 |
1993 |
|
von Willebrand Disease, Type 2A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease.
|
8435341 |
1993 |