| Products/Services Used | Details | Operation |
|---|---|---|
| Gene Synthesis | To detect the vascular-related functions of the causative protein, two small interfering (si)RNAs (sequences are provided in Supplementary Table 2) targeting the causative gene were designed using GenScript bioinformatics tools (https://www.genscript.com/tools/sirna-target-finder) and transfected into human umbilical vein endothelial cells (HUVECs) (Sciencell, US), human lymphatic endothelial cells (HLECs) (Sciencell, US) and human hepatic sinusoidal endothelial cells (HHSECs) (Sciencell, US) using Lipofectamine 3000 (Invitrogen, US) with scrambled siRNA (RIBOBIO, China) as negative control. | Get A Quote |
Vascular malformations present diagnostic and treatment challenges. In particular， malformations of vessels to the viscera are often diagnosed late or incorrectly due to an insidious onset and deep location of the disease. Therefore， a better knowledge of the genetic mutations underlying such diseases is needed. Here we evaluated a four-generation family carrying vascular malformations of major vessels that affect multiple organs， which we named multi-organ venous and lymphatic defect syndrome (MOVLD). Genetic analyses identified an association between a mutation in DDX24 - a gene for which the function is largely unknown - and MOVLD. Next， we screened 161 patients with sporadic vascular malformations o... More
