Article
Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations.
Gastroenterology - 1 Mar 2018
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
Abstract excerpt
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 clear how these contribute to disease development. We aimed to develop a mouse model of Alagille syndrome to elucidate...
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