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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007299/
https://www.ncbi.nlm.nih.gov/pubmed/29162437
http://dx.doi.org/10.1053/j.gastro.2017.11.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007299/
https://www.ncbi.nlm.nih.gov/pubmed/29162437
http://dx.doi.org/10.1053/j.gastro.2017.11.002

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