ライフサイエンスコーパス: von Willebrand disease

1 nsipidus (DI), bedwetting, haemophilia A and von Willebrand disease.

2 DNA from members of 2 families with atypical von Willebrand disease.

3 antitative VWF deficiencies in the blood and von Willebrand disease.

4 blood cell-initiated development of acquired von Willebrand disease.

5 time in individuals initially diagnosed with von Willebrand disease.

6 ders such as hemophilia A, hemophilia B, and von Willebrand disease.

7 ies, such as acquired hemophilia or acquired von Willebrand disease.

8 l bleeding in patients with mild or moderate von Willebrand disease.

9 ng heavy menstrual bleeding in patients with von Willebrand disease.

10 rand factor (pdVWF) for patients with severe Von Willebrand disease.

11 F) clearance is important in the etiology of von Willebrand disease.

12 nd factor (VWF) gene in a family with type 1 von Willebrand disease.

13 d contraindicated in 2 due to hemophilia and von Willebrand disease.

14 ns in the D3 domain are also associated with von Willebrand disease.

15 ects of two subtypes of mutations that cause Von Willebrand Disease.

16 this is the molecular basis of platelet-type von Willebrand disease.

17 f them will meet the laboratory diagnosis of von Willebrand disease.

18 lies previously diagnosed with types 1 and 3 Von Willebrand-disease.

19 inity for plasma vWF in platelet-type pseudo-von-Willebrand disease.

20 nce of VWF is illustrated by its mutation in von Willebrand disease, a bleeding diathesis.

21 represents a novel therapeutic approach for von Willebrand disease and hemophilia A.

22 nstrual bleeding occurs in 80% of women with von Willebrand disease and is associated with iron defic

23 et activation, and on the pathophysiology of von Willebrand disease and related thrombocytopenic diso

24 -vasopressin (DDAVP) to patients with type 1 von Willebrand disease and to healthy individuals causes

25 t these mice very closely mimic severe human von Willebrand disease and will be very useful for inves

26 ce, laboratory advances in the evaluation of von Willebrand disease, and a shift in clinical practice

27 s G233V and M239V cause platelet-type pseudo-von Willebrand disease, and VWF A1 bound to GPIbalpha(G2

28 method to quantify the odds of having type 1 von Willebrand Disease based on a person's family histor

29 Type 1 von Willebrand disease can be divided into three groups

30 Mutations in VWF in von Willebrand disease contribute to and are illuminated

31 ients aged 13-45 years with mild or moderate von Willebrand disease, defined as VWF ristocetin cofact

32 elp us gain insight into the pathogenesis of von Willebrand disease, design alternative treatment opt

33 ations in older adults on bleeding symptoms, von Willebrand disease diagnosis and management, and the

34 characterized a mouse model of platelet-type von Willebrand disease (G233V) and have confirmed a plat

35 ding carriers of hemophilia A and B, or with von Willebrand disease, have an increased risk of bleedi

36 orders, such as platelet function disorders, von Willebrand disease, hemophilia, or rare factor defic

37 ebrand factor (vWf) deficiency causes severe von Willebrand disease in humans.

38 DD as the first causal gene for quantitative von Willebrand disease in patients without pathogenic VW

39 Platelet-type von Willebrand disease is a bleeding disorder resulting

40 s an adequate option, especially if adquired Von Willebrand disease is present; cytoreduction is reco

41 Von Willebrand disease is the most commonly inherited bl

42 that the absence of vWf, as found in severe von Willebrand disease, leads to a defect in Weibel--Pal

43 Several rare European von Willebrand disease missense variants of VWF (includi

44 ns in these domains that are associated with von Willebrand disease modulate the interaction between

45 ng temperature and force the hypothesis that von Willebrand disease mutations disrupt A2 force sensin

46 -state character coincide with regions where Von Willebrand disease mutations induce misfolded molten

47 Our structure provides insight into many von Willebrand disease mutations, including those that d

48 Von Willebrand disease mutations, which presumably lower

49 d factor (vWF)/FVIII interaction in a type 1 von Willebrand disease patient characterized by discrepa

50 The structure reveals the basis for von Willebrand disease phenotypes and the fold and disul

51 In experimental models with von Willebrand disease pigs, plasma von Willebrand facto

52 body originally raised against platelet-type von Willebrand disease platelets heterozygous for the mu

53 from thrombotic thrombocytopenic purpura and von Willebrand disease provide clues for the structural

54 Platelet-type von Willebrand disease (PT-VWD) is a bleeding disorder o

55 Platelet-type von Willebrand disease (PTVWD) is a bleeding disorder in

56 At variance with hemophilia A and B and von Willebrand disease, RCDs are much less prevalent, ra

57 The diagnosis of von Willebrand disease relies on abnormalities in specif

58 ase, beta-thalassemia, and hemophilia A/B or von Willebrand disease, respectively.

59 Both type 2B and type 2M von Willebrand disease result in bleeding disorders; how

60 Blood group O is much more common in type 1 von Willebrand disease than in the general population an

61 factor cause the hereditary types 2B and 2M von Willebrand disease that either enhance (2B) or inhib

62 s contribute to the extensive variability of von Willebrand disease, the most prevalent bleeding diso

63 In platelet-type von Willebrand disease, two mutations, G233V and M239V,

64 In type 2M von Willebrand disease, two rare mutations (G1324A and G

65 Clinical investigations of von Willebrand disease type 1 are defining the relations

66 Thus, dominant von Willebrand disease type 1 may be caused by heterodim

67 Some families affected by von Willebrand disease type 1 show high penetrance with

68 Patients with von Willebrand disease type 2A present with increased bl

69 von Willebrand disease type 2B (vWD-type 2B) is characte

70 The common von Willebrand disease type 2N mutation (R91Q) was exclu

71 h plasma or washed platelets isolated from a von Willebrand disease type 3 patient with no detectable

72 was identified in one case with mild type 1 von Willebrand disease (VWD) and a VWF defect.

73 e the effect of these 2 agents, heterozygous von Willebrand disease (VWD) and normal dogs were treate

74 mmend long-term prophylaxis in patients with von Willebrand disease (VWD) and severe and frequent ble

75 Patients with von Willebrand disease (VWD) are often heterozygous for

76 erturbed in type 2 dysfunctional subtypes of von Willebrand disease (VWD) by mutations that alter the

77 basis of a variant form of moderately severe von Willebrand disease (vWD) characterized by low plasma

78 significant ongoing debate regarding type 1 von Willebrand disease (VWD) defintion.

79 Approximately 35% of patients with type 1 von Willebrand disease (VWD) do not have a known pathoge

80 tigated the pathologic mechanism acting in 3 von Willebrand disease (VWD) families with putative spli

81 Approximately 20% to 25% of patients with von Willebrand disease (VWD) have a qualitative defect o

82 normal glycosylation has been shown to cause von Willebrand disease (VWD) in a number of different mo

83 in 32 subjects with type 3 or severe type 1 von Willebrand disease (VWD) in a prospective phase 1, m

84 proteolysis by ADAMTS13 may underlie type I von Willebrand disease (VWD) in some patients was invest

85 athophysiological characterization of type 1 von Willebrand disease (VWD) in the Molecular and Clinic

86 ine the pathophysiology of types 1, 2, and 3 von Willebrand disease (VWD) in the Willebrand in the Ne

87 Type 2 von Willebrand disease (VWD) includes a wide range of qu

88 von Willebrand disease (VWD) is a common bleeding disord

89 Type 1 von Willebrand disease (VWD) is a common inherited disor

90 von Willebrand disease (vWD) is a common, autosomally in

91 Von Willebrand disease (VWD) is a heterogeneous bleeding

92 Type 2b von Willebrand disease (vWD) is a qualitative form of vW

93 Type 3 von Willebrand disease (VWD) is a severe hemorrhagic def

94 Type 2B von Willebrand disease (VWD) is an inherited bleeding di

95 Von Willebrand disease (VWD) is an inherited bleeding di

96 Type 1 von Willebrand disease (VWD) is characterized by a parti

97 Type 1 von Willebrand disease (VWD) is characterized by a perso

98 von Willebrand disease (VWD) is characterized by its het

99 The diagnosis of von Willebrand disease (VWD) is complicated by issues wi

100 von Willebrand disease (VWD) is the most common autosoma

101 von Willebrand disease (VWD) is the most common bleeding

102 Type 1 von Willebrand disease (VWD) is the most common form of

103 prevalence approaching 1% of the population, von Willebrand disease (vWD) is the most common heredita

104 Von Willebrand disease (VWD) is the most common inherite

105 von Willebrand disease (VWD) is the most common inherite

106 von Willebrand disease (VWD) is the most common inherite

107 Type 1 von Willebrand disease (VWD) is the most common inherite

108 portance of functional VWF defects in type 2 von Willebrand disease (VWD) is well recognized, the tra

109 in the complex containing A1 with a type 2B von Willebrand Disease (VWD) mutation associated with sp

110 with a mild bleeding disorder (MBD) such as von Willebrand disease (VWD) or platelet function defect

111 The lack of innovation in von Willebrand disease (VWD) originates from many factor

112 ng the S1613P mutation found in some type 2A von Willebrand disease (vWD) patients was observed to un

113 asma from volunteers to that from congenital von Willebrand disease (VWD) patients, intact-VWF levels

114 (BS) predicts the risk of future bleeding in von Willebrand disease (VWD) patients.

115 licated as a mechanism in a subset of type 1 von Willebrand disease (VWD) patients.

116 ions in the vWF A1 domain that cause type 2B von Willebrand disease (vWD) reduce the flow requirement

117 von Willebrand disease (VWD) type 1 is a bleeding disord

118 von Willebrand disease (VWD) type 1 is difficult to diag

119 Von Willebrand disease (VWD) type 1 is reported to be co

120 In patients with von Willebrand disease (VWD) type 1, VWF antigen (VWF:Ag

121 Von Willebrand disease (VWD) type 2B is characterized by

122 of FVIII binding are the underlying cause of von Willebrand disease (VWD) type 2N.

123 tively folded and mutation-induced misfolded von Willebrand disease (VWD) variants, we test a recentl

124 consanguineous Turkish family suffering from von Willebrand disease (VWD) with significant mucocutane

125 siology of 658 patients with type 1, 2, or 3 von Willebrand disease (VWD) with VWF levels </=30 U/dL

126 ation, I546V that is associated with type 2B von Willebrand disease (vWD), a bleeding disorder that i

127 tive or qualitative defects in VWF result in von Willebrand disease (VWD), a common inherited bleedin

128 Disorders of hemostasis such as hemophilia, von Willebrand disease (VWD), and other clotting protein

129 t for the lack of large multimers in type 2A von Willebrand disease (vWD), and the results with tetra

130 Type 1 von Willebrand disease (VWD), characterized by reduced l

131 tinal (GI) bleeding is distinctive of severe von Willebrand disease (VWD), generally arising in older

132 normal hemostasis, and deficiency of VWF, or von Willebrand disease (VWD), is the most common inherit

133 are but serious complication of treatment of von Willebrand disease (VWD), occurring in ~5% to 10% of

134 gnosed with the bleeding diathesis disorder, von Willebrand disease (vWD), on the structure and rheol

135 In type 1 von Willebrand disease (vWD), platelet adhesive function

136 Mutations causing type 2B von Willebrand disease (VWD), platelet-type VWD (PT-VWD)

137 Angiodysplasia can be associated with von Willebrand disease (VWD), the most common bleeding d

138 is responsible for the majority of cases of von Willebrand disease (VWD), the most common inherited

139 von Willebrand disease (VWD), the most common inherited

140 e cleavage process, cause a distinct form of von Willebrand disease (VWD), VWD type 2A.

141 ferent families with type 2A (phenotype IID) von Willebrand disease (vWD).

142 iated with the excessive bleeding of type 2A von Willebrand disease (VWD).

143 tor (rVWF) for treatment of bleeds in severe von Willebrand disease (VWD).

144 ontrols and subjects with different types of von Willebrand disease (VWD).

145 t of hemorrhagic events in all patients with von Willebrand disease (VWD).

146 F) cause the common human bleeding disorder, von Willebrand disease (VWD).

147 clinical outcomes in patients with inherited von Willebrand disease (VWD).

148 hemostatic defects as found in patients with von Willebrand disease (VWD).

149 f 491 participants (318 patients with type 1 von Willebrand disease [VWD] and 173 unaffected family m

150 to decreased FVIII binding affinity (type 2N von Willebrand disease [VWD]).

151 am for the Molecular and Clinical Biology of von Willebrand disease, we, like others, found a lower m

152 ll anemia, thalassemia, or hemophilia A/B or von Willebrand disease were enrolled at 31 study sites i

153 adhesion causes bleeding that is typical of von Willebrand disease, whereas too much platelet adhesi

154 g risk, especially in patients with acquired von Willebrand disease, which can occur with extreme thr

155 One patient had mild von Willebrand disease, which had been asymptomatic befo

156 VWF deficiency causes von Willebrand disease, which is the most common inherit

157 iated with this interaction is platelet-type von Willebrand disease, which results from gain-of-funct

158 recruited in the French Reference Center for von Willebrand Disease with moderate bleeding symptoms a

159 am for the Molecular and Clinical Biology of von Willebrand Disease with type 2 VWD.

160 intaining hemostasis in mild hemophilia A or von Willebrand disease would be worthwhile.