Publications by authors named "E Spiekerkoetter"
Blood vessels permeate all organs and execute myriad roles in health and disease. Here, we present a protocol to efficiently generate human artery and vein endothelial cells (ECs) from pluripotent stem cells within 3-4 days of differentiation. We delineate how to seed human pluripotent stem cells and sequentially differentiate them into primitive streak, lateral mesoderm, and either artery or vein ECs.
View Article and Find Full Text PDFArticle Synopsis
- Pulmonary veno-occlusive disease (PVOD) is a rare pulmonary vascular condition that can be mistaken for pulmonary arterial hypertension (PAH), and they are believed to have different genetic causes.
- This report details a case of a woman diagnosed with PAH at 42, who unfortunately passed away despite treatment, and her son, who was diagnosed with PAH at 16 and required a heart-lung transplant due to worsening conditions.
- The autopsy of the mother showed evidence consistent with PAH, while the son's lung pathology confirmed PVOD, and neither had identifiable genetic mutations linked to these diseases.
Article Synopsis
- Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder that leads to abnormal blood vessel formations, particularly in the skin and internal organs, due to mutations in one of three specific genes.
- Research indicates that these vascular malformations result from a two-hit mutation mechanism, where a primary genetic mutation is compounded by additional events such as somatic mutations or loss of heterozygosity.
- The study confirms that both skin and internal organ abnormalities share similar molecular processes, emphasizing that losing function in both copies of the HHT gene is essential for developing these vascular issues.