ライフサイエンスコーパス: von Willebrand disease

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

25 Von Willebrand disease is the most commonly inherited bl

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

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

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

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

30 Von Willebrand disease mutations, which presumably lower

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

67 Von Willebrand disease (VWD) is a heterogeneous bleeding

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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