Characterization of Notch receptor expression in the developing mammalian heart and liver

Abstract excerpt

Alagille syndrome (AGS) is an autosomal dominant disorder characterized by bile duct paucity along with cardiovascular, skeletal, and ophthalmologic defects. The identification of JAG1 as the AGS disease gene revealed the crucial role of the Notch signaling pathway in the development of multiple organ systems in humans. Patients with identical mutations in JAG1 demonstrate extreme clinical variability, suggesting...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetics and Neurodevelopmental Disorders
• Share to Liver physiology and pathology
• Share to Pediatric Hepatobiliary Diseases and Treatments