From bedside to bench--reverse translational medicine. Scientific lessons from revertant mosaicism in 'knockout' humans.

Abstract excerpt

While the transition from basic life science research to clinical applications is often much more cumbersome than promised, Gostyński et al. took the opposite approach and demonstrated how a scholarly, biology-guided perspective on human skin disease can reveal basic principles of human biology. Hereditary blistering diseases represent not only a disastrous fate for affected patients, but also an opportunity for...

Topics

• Autoantigens
• Epidermis
• Humans
• Melanins
• Melanocytes
• Mutation
• Non-Fibrillar Collagens
• Skin Pigmentation