Increased RhoA pathway activation downstream of αIIbβ3/SRC contributes to heterozygous Bernard Soulier syndrome.
Lordier L, Di Buduo CA, Kauskot A, Balayn N, Lavenu-Bombled C, Baschieri F, Proulle V, Oyarzun CPM, Careddu F, Biunno I, Manoliu T, Rameau P, Plo I, Papadopoulos N, Constantinescu S, Vainchenker W, Nguyen GN, Ballerini P, Favier R, Balduini A, Raslova H.
Lordier L, et al.
Haematologica. 2025 Jul 1;110(7):1596-1609. doi: 10.3324/haematol.2024.286424. Epub 2025 Mar 6.
Haematologica. 2025.
PMID: 40045897
Free PMC article.
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 pati …
Bernard Soulier syndrome (BSS) is a severe bleeding disorder with moderate to severe thrombocytopenia, giant platelets, and platelet dysfunc …