Expression of mutant JAGGED1 alleles in patients with Alagille syndrome

This publication has 36 references indexed in Scilit:

• Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations
  Nature Genetics, 2004
• Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics
  Nature Reviews Molecular Cell Biology, 2004
• Conditional JAG1 Mutation Shows the Developing Heart Is More Sensitive Than Developing Liver to JAG1 Dosage
  American Journal of Human Genetics, 2003
• Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloning
  Human Genetics, 2002
• DHPLC mutation analysis ofJagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients
  Human Mutation, 2002
• Parental mosaicism of JAG1 mutations in families with Alagille syndrome
  European Journal of Human Genetics, 2001
• A Non-Transmembrane Form of Jagged-1 Regulates the Formation of Matrix-Dependent Chord-like Structures
  Biochemical and Biophysical Research Communications, 2000
• Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
  Nature Genetics, 1997
• Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): Review of 80 cases
  The Journal of Pediatrics, 1987
• Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur
  The Journal of Pediatrics, 1975