Article
A gain-of-function filamin A mutation in mouse platelets induces thrombus instability.
Journal of thrombosis and haemostasis : JTH - 1 Nov 2022
Adam Frédéric, Kauskot Alexandre, Lamrani Lamia, Solarz Jean, Soukaseum Christelle, Repérant Christelle, Denis Cécile V, Raslova Hana, Rosa Jean-Philippe, Bryckaert Marijke
Abstract excerpt
BACKGROUND: Filaminopathies A are rare disorders affecting the brain, intestine, or skeleton, characterized by dominant X-linked filamin A (FLNA) gene mutations. Macrothrombocytopenia with functionally defective platelets is frequent. We have described a filaminopathy A male patient, exhibiting a C-terminal frame-shift FLNa mutation (Berrou et al., Arterioscler Thromb Vasc Biol. 2017;37:1087-1097). Contrasting...
Topics
- Male
- Female
- Mice
- Animals
- Filamins
- Platelet Glycoprotein GPIIb-IIIa Complex
- Gain of Function Mutation
- Thrombosis
- Mutation
- Hemostatics