Article
Cranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients.
Human molecular genetics - 15 Mar 2012
Humphreys Ryan, Zheng Wei, Prince Lawrence S, Qu Xianghu, Brown Christopher, Loomes Kathleen, Huppert Stacey S, Baldwin Scott, Goudy Steven
Abstract excerpt
JAGGED1 mutations cause Alagille syndrome, comprising a constellation of clinical findings, including biliary, cardiac and craniofacial anomalies. Jagged1, a ligand in the Notch signaling pathway, has been extensively studied during biliary and cardiac development. However, the role of JAGGED1 during craniofacial development is poorly understood. Patients with Alagille syndrome have midface hypoplasia giving them...
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