Genetic abnormalities of the endothelium
Related Experiment Video
Updated: Sep 28, 2026

Isolation and Culture Expansion of Tumor-specific Endothelial Cells
Published on: October 14, 2015
Jagdish W Butany1, Subodh Verma, Richard L Leask
1Department of Pathology, University Health Network, Toronto General Hospital, Ontario, Canada. jagdish.butany@uhn.on.ca
Abstract:
Endothelial cell dysfunction plays an important role in the development and progression of cardiovascular and other disease. The purpose of this review is to discuss some of the genetic diseases known to adversely affect endothelial function. Although the list is exhaustive, we focus our discussion on primary pulmonary hypertension, diabetes mellitus, Alzheimer's disease, Crohn's disease, Von-Hippel-Lindau disease, familial Mediterranean fever, thrombotic microangiopathy, and key vascular malformations. Endothelial dysfunction results from a complex interplay between genetic and environmental factors. This review highlights some of the growing body of evidence implicating endothelial dysfunction as an important mediator of diverse diseases.
Related Concept Videos
Regulation of Angiogenesis and Blood Supply
Mechanism of Angiogenesis
Notch Signaling Pathway
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
Coronary Artery Disease II: Pathophysiology
Peripheral Artery Disease I: Introduction
Overview of the Vascular System

