Bile duct proliferation in Jag1/fringe heterozygous mice identifies candidate modifiers of the alagille syndrome hepatic phenotype
Matthew J. Ryan, Christina Bales, Anthony Nelson, Dorian M. Gonzalez, Lara Underkoffler, Michelle Segalov, Jeanne Wilson‐Rawls, Susan E. Cole, Jennifer L. Moran, Pierre Russo, Nancy B. Spinner, Kenro Kusumi, Kathleen M. Loomes – 24 November 2008 – Alagille syndrome (AGS) is a heterogeneous developmental disorder associated with bile duct paucity and various organ anomalies. The syndrome is caused by mutations in JAG1, which encodes a ligand in the Notch signaling pathway, in the majority of cases and mutations in the NOTCH2 receptor gene in less than 1% of patients.