Article
Increased RhoA pathway activation downstream of αIIbβ3/SRC contributes to heterozygous Bernard Soulier syndrome.
Haematologica - 1 Jul 2025
Lordier Larissa, Di Buduo Christian A, Kauskot Alexandre, Balayn Nathalie, Lavenu-Bombled Cécile, Baschieri Francesco, Proulle Valérie, Oyarzun Cecilia P Marin, Careddu Francesca, Biunno Ida, Manoliu Tudor, Rameau Philippe, Plo Isabelle, Papadopoulos Nicolas, Constantinescu Stefan, Vainchenker William, Nguyen Guillaume Nam, Ballerini Paola, Favier Remi, Balduini Alessandra, Raslova Hana
Abstract excerpt
Bernard Soulier syndrome (BSS) is a severe bleeding disorder with moderate to severe thrombocytopenia, giant platelets, and platelet dysfunction, caused by biallelic mutations in GP1BA, GP1BB, or GP9 genes. We generated induced pluripotent stem cells (iPSC) from a BSS patient with a novel heterozygous GP1BA p.N103D mutation, resulting in moderate macrothrombocytopenia. The mutation does not affect megakaryocyte...
Read the complete abstract on PubMedTopics
- Humans
- rhoA GTP-Binding Protein
- Bernard-Soulier Syndrome
- Heterozygote