Development · 2004 · 214 citations · 45 references
Jagged-mediated NotchDevelopmental BiologyZebrafish BiliaryGenetic DisorderGeneticsMulti-organ DefectsCraniofacial DevelopmentMorphogenesisAlagille SyndromeMolecular GeneticsAlagille Syndrome PhenocopyZebrafish LiverOrgan DevelopmentCell Fate DeterminationMedicineCell Biology
The Alagille Syndrome (AGS) is a heritable disorder affecting the liver and other organs. Causative dominant mutations in human Jagged 1 have been identified in most AGS patients. Related organ defects occur in mice that carry jagged 1 and notch 2 mutations. Multiple jagged and notch genes are expressed in the developing zebrafish liver. Compound jagged and notch gene knockdowns alter zebrafish biliary, kidney, pancreatic, cardiac and craniofacial development in a manner compatible with an AGS phenocopy. These data confirm an evolutionarily conserved role for Notch signaling in vertebrate liver development, and support the zebrafish as a model system for diseases of the human biliary system.
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Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
Linheng Li, Ian D. Krantz, Yu Deng et al. · Nature Genetics · 1997 · 1.3K citations
Mutations in the human Jagged1 gene are responsible for Alagille syndrome
Takaya Oda, Abdel Elkahloun, Brian L. Pike et al. · Nature Genetics · 1997 · 1.2K citations
Notch signalling controls pancreatic cell differentiation
Åsa Apelqvist, Hao Li, Lukas Sommer et al. · Nature · 1999 · 1.2K citations