Key result
VWD type 2A mutants exhibit distinct biosynthesis defects correlated to multimer patterns, while shear flow-dependent phenotypes were not related to the mutated VWF domain.
Population
VWF variants with patient-derived mutations in the VWF pro-peptide or in domains D3 or CK
Comparison
Microfluidic assays and molecular dynamics… vs Static assays
Design
Preclinical
Authors
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Microfluidic shear assays may detect VWD 2A defects missed by static tests; animal data leave diagnostic translation open.
Microfluidic assays reveal shear-dependent dysfunctions in VWD type 2A mutants that are not detectable by static tests, offering new diagnostic possibilities.
Huck et al. (2014) studied von Willebrand disease (VWD) type 2A. VWF variants with patient-derived mutations (VWD 2A/IIC, IID, IIE) was evaluated on Shear-dependent function, biosynthesis, and multimer patterns. VWD type 2A mutants exhibit distinct biosynthesis defects correlated to multimer patterns, while shear flow-dependent phenotypes were not related to the mutated VWF domain.
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