LIM kinase/cofilin dysregulation promotes macrothrombocytopenia in severe von Willebrand disease-type 2B

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 associate...

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Veröffentlicht in:	JCI insight 2016-10, Vol.1 (16)
Hauptverfasser:	Kauskot, Alexandre, Poirault-Chassac, Sonia, Adam, Frédéric, Muczynski, Vincent, Ayme, Gabriel, Casari, Caterina, Bordet, Jean-Claude, Soukaseum, Christelle, Rothschild, Chantal, Proulle, Valérie, Pietrzyk-Nivau, Audrey, Berrou, Eliane, Christophe, Olivier, Rosa, Jean-Philippe, Lenting, Peter, Bryckaert, Marijke, Denis, Cécile, Baruch, Dominique
Format:	Artikel
Sprache:	eng
Schlagworte:	Actin Depolymerizing Factors Animals Biochemistry Biochemistry, Molecular Biology Biotechnology Galenic pharmacology Gene Knock-In Techniques Humans Immunology Immunotherapy Life Sciences Lim Kinases Male Medication Mice Molecular biology Mutation Pharmaceutical sciences Pharmacology rho GTP-Binding Proteins rhoA GTP-Binding Protein Signal Transduction Thrombocytopenia von Willebrand Disease, Type 2 von Willebrand Factor
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