Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations

BACKGROUND & AIMS: Alagille syndrome is a genetic disorder characterized by cholestasis, ocular abnormalities, characteristic facial features, heart defects, and vertebral malformations. Most cases are associated with mutations in JAGGED1 (JAG1), which encodes a Notch ligand, although it is not...

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Published in:Gastroenterology
Main Authors: Andersson, Emma R., Chivukula, Indira V., Hankeova, Simona, Sjöqvist, Marika, Tsoi, Yat Long, Ramsköld, Daniel, Masek, Jan, Elmansuri, Aiman, Hoogendoorn, Anita, Vazquez, Elenae, Storvall, Helena, Netušilová, Julie, Huch, Meritxell, Fischler, Björn, Ellis, Ewa, Contreras, Adriana, Nemeth, Antal, Chien, Kenneth C., Clevers, Hans, Sandberg, Rickard, Bryja, Vitezslav, Lendahl, Urban
Format: Artigo
Language:Inglês
Published: 2018
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7007299/
https://ncbi.nlm.nih.gov/pubmed/29162437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1053/j.gastro.2017.11.002
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