Congenital anomalies of the kidney and urinary tract (CAKUT) refer to a spectrum of
structural renal malformations and are the leading cause of end-stage renal disease in …

Notch receptors influence cellular behavior by participating in a seemingly simple signaling
pathway, but outcomes produced by Notch signaling are remarkably varied depending on …

Background and Aims Activation of the antitumor immune response using programmed
death receptor‐1 (PD‐1) blockade showed benefit only in a fraction of patients with …

Although bile duct disorders are well-recognized causes of liver disease, the molecular and
cellular events leading to biliary dysfunction are poorly understood. To enable modeling and …

Notch 1 to 4 receptors are important determinants of cell fate and function, and Notch
signaling plays an important role in skeletal development and bone remodeling. After direct …

Mutations in Notch signaling pathway members cause developmental phenotypes that affect
the liver, skeleton, heart, eye, face, kidney, and vasculature. Notch associated disorders …

Elucidating genetic causes of cholestasis has proved to be important in understanding the
physiology and pathophysiology of the liver. Here we show that protein-truncating mutations …

The Notch signaling pathway is an ancient and highly conserved signaling pathway that
controls cell fate specification and tissue patterning in the embryo and in the adult. Region …

Alagille syndrome is an autosomal dominant disease with a known molecular etiology of
dysfunctional Notch signaling caused primarily by pathogenic variants in JAGGED1 (JAG1) …

Alagille syndrome (ALGS) is an autosomal dominant, multisystem disorder with variable
phenotypic penetrance that was first described in 1969 by Daniel Alagille. Initial diagnosis …