Sökning: "PI3KCA"

Hittade 1 avhandling innehållade ordet PI3KCA.

1. 1. Cell-autonomous and paracrine mechanisms underlying Pik3ca-driven vascular malformations

   Författare :Milena Petkova; Taija Mäkinen; Ebba Bråkenhielm; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; PI3K; PI3KCA; lymphatic malformations; H1047R;

   Sammanfattning : Vascular malformation is a benign overgrowth of blood or lymphatic vessels leading to life-threatening consequences for affected patients. Activating mutations in the TIE2 receptor cause the majority of venous malformations (VMs), while somatic activating mutations in PIK3CA, leading to the overactivation of the PI3K-AKT pathway, cause both VMs and lymphatic malformations (LMs). LÄS MER