Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations

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 clear how these contrib...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Gastroenterology (New York, N.Y. 1943) N.Y. 1943), 2018-03, Vol.154 (4), p.1080-1095
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	Alagille Alagille Syndrome - genetics Alagille Syndrome - metabolism Alagille Syndrome - pathology Animals Bile Ducts, Intrahepatic - metabolism Bile Ducts, Intrahepatic - pathology Cell Differentiation Coculture Techniques Development Disease Models, Animal Female Gene Expression Profiling - methods Gene Expression Regulation, Developmental Genetic Predisposition to Disease Heart HEK293 Cells Humans Jagged-1 Protein - genetics Jagged-1 Protein - metabolism Jagged1 Kidney Liver Male Mice, Inbred C3H Mice, Inbred C57BL Mice, Transgenic Morphogenesis Mutation, Missense Notch Organoids Phenotype Receptor, Notch2 - genetics Receptor, Notch2 - metabolism Signal Transduction Transfection Vertebrae
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!