Claudin‐1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability
Brigitte Grosse, Doris Cassio, Nadya Yousef, Céline Bernardo, Emmanuel Jacquemin, Emmanuel Gonzales – 26 October 2011 – Neonatal ichthyosis and sclerosing cholangitis (NISCH) syndrome is a liver disease caused by mutations of CLDN1 encoding Claudin‐1, a tight‐junction (TJ) protein. In this syndrome, it is speculated that cholestasis is caused by Claudin‐1 absence, leading to increased paracellular permeability and liver injuries secondary to paracellular bile regurgitation. We studied the role of claudin‐1 in hepatic paracellular permeability.