ライフサイエンスコーパス: vWD

1 ignated this new variant type 2M:Milwaukee-1 vWD.

2 of this polymorphism in patients with type 1 vWD compared with normal individuals.

3 enotype in individuals diagnosed with type 1 vWD is about 0.5%.

4 The molecular basis of type 1 vWD is largely undefined.

5 low collagen receptor density, among type 1 vWD patients (807C =.71; 807T =.29) was significantly hi

6 nd normal multimerization, typical of type 1 vWD, but disproportionately-low agonist-mediated platele

7 Type 2 vWD is further divided into four subtypes (A, B, N, and

8 s-sense mutations account for most of type 2 vWD, whereas major disruptions in the vWF gene produce t

9 lopment of protease inhibitor therapy for 2A vWD.

10 The type 2A vWD mutation sites in the A2 domain correspond to buried

11 P mutation causes the characteristic type 2A vWD phenotype.

12 for developing specific treatment of type 2A vWD.

13 Two type 2B vWD A1 domain mutants, R1306Q and R1450E, converted catc

14 ion of the vWF gene in patients with type 2b vWD has resulted in identification of a panel of mutatio

15 hermore, expression of more than one type 2b vWD mutation in the same molecule (cis) or in different

16 In contrast, the type 2B vWD mutation sites that are involved in upregulation of

17 ave expressed six of the most common type 2b vWD mutations in recombinant vWF and show that each muta

18 on" or "off" conformation, with most type 2b vWD mutations resulting in vWF locked in the on conforma

19 We conclude that in type 2B vWD, prolonged lifetimes of vWF bonds with GPIbalpha on

20 von Willebrand disease type 2B (vWD-type 2B) is characterized by gain-of-function mutati

21 Inspection of the type 2M vWD mutation sites that are involved in downregulation o

22 mong individuals with types 2A, 2B, 2M, or 3 vWD.

23 IIbbeta3 in platelets from mice expressing a vWD-type 2B-associated vWF (vWF/p.V1316M), platelets fro

24 Acquired vWD may also occur with certain medications.

25 is, but the estimated prevalence of acquired vWD (often termed von Willebrand syndrome or vWS) is now

26 pes 2B, 2M, and 2A von Willebrand's disease (vWD) are located in the A1 and A2 domains.

27 von Willebrand's disease (vWD) arises from abnormalities in von Willebrand factor

28 of moderately severe von Willebrand disease (vWD) characterized by low plasma von Willebrand factor a

29 von Willebrand disease (vWD) is a common, autosomally inherited, bleeding disord

30 Type 2b von Willebrand disease (vWD) is a qualitative form of vWD resulting from enhance

31 % of the population, von Willebrand disease (vWD) is the most common hereditary bleeding diathesis, b

32 ound in some type 2A von Willebrand disease (vWD) patients was observed to undergo proteolysis in viv

33 n that cause type 2B von Willebrand disease (vWD) reduce the flow requirement for adhesion.

34 ociated with type 2B von Willebrand disease (vWD), a bleeding disorder that is due to the spontaneous

35 multimers in type 2A von Willebrand disease (vWD), and the results with tetracyclines and monoclonal

36 diathesis disorder, von Willebrand disease (vWD), on the structure and rheology of vWF A1 domain adh

37 In type 1 von Willebrand disease (vWD), platelet adhesive functions are impaired due to th

38 e 2A (phenotype IID) von Willebrand disease (vWD).

39 kely contributes to the bleeding tendency in vWD-type 2B.

40 The laboratory diagnosis of vWD and its several variants is made on the basis of imm

41 The mainstay of the diagnosis of vWD is laboratory testing.

42 brand disease (vWD) is a qualitative form of vWD resulting from enhanced binding of vWF to platelets.

43 describe two families with a variant form of vWD where affected members of both families have borderl

44 uent in vivo analysis of additional forms of vWD and in the development of protease inhibitor therapy

45 s in symptomatic patients with five types of vWD (type 1, n = 78; type 2A, n = 25, type 2B, n = 14; t

46 vWF-platelet interactions, which affects the vWD functional phenotype and the severity of thrombocyto

47 These data indicate that the vWD-type 2B mutation p.V1316M is associated with severe

48 e mainstay of therapy for most patients with vWD in desmopressin, a pharmacologic agent that stimulat

49 Also, in patients with vWD type 1 and borderline to normal ristocetin-cofactor

50 Patients with vWD-type 2B have a bleeding tendency that is linked to l