Talin1 dysfunction is genetically linked to systemic capillary leak syndrome.
Naama Elefant, Pinelopi Nikolopoulou, V Vassiliki Papadaki, Danit Oz-Levi, Georgia Rouni, Racheli Sion‐Sarid, William JS Edwards, Christina Arapatzi, Shira Yanovsky‐Dagan, Alana R. Cowell, Vardiella Meiner, Vladimir Vainstein, Sofia Grammenoudi, Doron Lancet, Benjamin T Goult, , Vassiliki Kostourou
The paper identifies a rare TLN1 splice-site variant in a familial SCLS case, linking Talin1 dysfunction to systemic capillary leak syndrome through disrupted endothelial barrier integrity.
JCI Insight · Dec 19, 2024Peer-reviewedGenetic & Genomic Medicine