Article
Bile duct proliferation in Jag1/fringe heterozygous mice identifies candidate modifiers of the Alagille syndrome hepatic phenotype.
Hepatology (Baltimore, Md.) - 1 Dec 2008
Ryan Matthew J, Bales Christina, Nelson Anthony, Gonzalez Dorian M, Underkoffler Lara, Segalov Michelle, Wilson-Rawls Jeanne, Cole Susan E, Moran Jennifer L, Russo Pierre, Spinner Nancy B, Kusumi Kenro, Loomes Kathleen M
Abstract excerpt
UNLABELLED: 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. Although a wide array of JAG1 mutations have been identified in the AGS...
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