Table 2

Quantification of variant VWF splice forms

Patient (mutation)Splice form% of BOECs VWF RNA under static conditions% of BOEC VWF RNA under 50 dynes/cm2 shear stress
V70
(c.3538G>A) 		WT 2 ± 0.6 98 ± 1** 
23del 22 ± 7 0 ± 0** 
26del 64 ± 3 2 ± 1** 
23/26del 11 ± 8 0 ± 0.5* 
T151
(c.5842+1 G>C; c.3939G>A) 		WT 41 ± 8 n/a 
33del 15 ± 3 n/a 
33-34del 44 ± 4 n/a 
T152
(c.5842+1 G>C) 		WT 51 ± 7 22 ± 9** 
33del 22 ± 11 68 ± 13** 
33-34del 27 ± 5 10 ± 1** 
V447
(c.6599-20 A>T) 		WT 97 ± 31 40 ± 3* 
38del 2 ± 0.85 60 ± 5* 
V449
(c.6599F-20 A>T) 		WT 97 ± 31 2 ± 2* 
38del 3 ± 4 98 ± 22* 
Normal BOECs
(N = 3) 		WT 86 ± 0.9 65 ± 3* 
23del 0 ± 0 0 ± 0 
26del 0 ± 0 0 ± 0 
23/26del 0 ± 0 0 ± 0 
33del 13 ± 0.3 34 ± 3* 
33-34del 0 ± 0 0 ± 0 
38del 0 ± 0 0 ± 0 
Patient (mutation)Splice form% of BOECs VWF RNA under static conditions% of BOEC VWF RNA under 50 dynes/cm2 shear stress
V70
(c.3538G>A) 		WT 2 ± 0.6 98 ± 1** 
23del 22 ± 7 0 ± 0** 
26del 64 ± 3 2 ± 1** 
23/26del 11 ± 8 0 ± 0.5* 
T151
(c.5842+1 G>C; c.3939G>A) 		WT 41 ± 8 n/a 
33del 15 ± 3 n/a 
33-34del 44 ± 4 n/a 
T152
(c.5842+1 G>C) 		WT 51 ± 7 22 ± 9** 
33del 22 ± 11 68 ± 13** 
33-34del 27 ± 5 10 ± 1** 
V447
(c.6599-20 A>T) 		WT 97 ± 31 40 ± 3* 
38del 2 ± 0.85 60 ± 5* 
V449
(c.6599F-20 A>T) 		WT 97 ± 31 2 ± 2* 
38del 3 ± 4 98 ± 22* 
Normal BOECs
(N = 3) 		WT 86 ± 0.9 65 ± 3* 
23del 0 ± 0 0 ± 0 
26del 0 ± 0 0 ± 0 
23/26del 0 ± 0 0 ± 0 
33del 13 ± 0.3 34 ± 3* 
33-34del 0 ± 0 0 ± 0 
38del 0 ± 0 0 ± 0 

N = 3; *P < .05; **P < .01; ***P < .001 comparing transcripts ratios between BOECs grown under static conditions vs under 48-hour subjection to shear stress at 50 dynes/cm2. n/a represents BOECs with proliferative and adhesive properties that did not permit evaluation under high shear rates.

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