Ontology highlight
ABSTRACT:
SUBMITTER: Jones EA
PROVIDER: S-EPMC1734694 | biostudies-literature | 2000 Sep
REPOSITORIES: biostudies-literature
Jones E A EA Clement-Jones M M Wilson D I DI
Journal of medical genetics 20000901 9
Alagille syndrome (AGS, MIM 118450) is an autosomal dominant disorder with a variable phenotype characterised by hepatic, eye, cardiac, and skeletal malformations and a characteristic facial appearance. Mutations within the gene JAGGED1 (JAG1), which encodes a ligand for NOTCH receptor(s), has been shown to cause Alagille syndrome. Interactions of NOTCH receptors and their ligands influence cell fate decisions in several developmental pathways. We report the tissue expression of JAG1 in human em ...[more]