Ontology highlight
ABSTRACT:
SUBMITTER: Kauskot A
PROVIDER: S-EPMC5053155 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Kauskot Alexandre A Poirault-Chassac Sonia S Adam Frédéric F Muczynski Vincent V Aymé Gabriel G Casari Caterina C Bordet Jean-Claude JC Soukaseum Christelle C Rothschild Chantal C Proulle Valérie V Pietrzyk-Nivau Audrey A Berrou Eliane E Christophe Olivier D OD Rosa Jean-Philippe JP Lenting Peter J PJ Bryckaert Marijke M Denis Cécile V CV Baruch Dominique D
JCI insight 20161006 16
von Willebrand disease type 2B (VWD-type 2B) is characterized by gain-of-function mutations of von Willebrand factor (vWF) that enhance its binding to platelet glycoprotein Ibα and alter the protein's multimeric structure. Patients with VWD-type 2B display variable extents of bleeding associated with macrothrombocytopenia and sometimes with thrombopathy. Here, we addressed the molecular mechanism underlying the severe macrothrombocytopenia both in a knockin murine model for VWD-type 2B by introd ...[more]