Associated Papers
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.
Gilbert MA et al.
American Journal of Human Genetics, 2024
Alagille syndrome and non-syndromic paucity of the intrahepatic bile ducts.
Gilbert MA et al.
Translational Gastroenterology and Hepatology, 2021
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
Sullivan JM et al.
The Journal of Clinical Investigation, 2020
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Gilbert MA et al.
Human Mutation, 2019
JAG1 loss‑of‑function mutations contributed to Alagille syndrome in two Chinese families.
Zhang E et al.
Molecular Medicine Reports, 2018
Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome.
Tada M et al.
The Febs Journal, 2012
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
Bauer RC et al.
Human Mutation, 2010
Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling.
Boyer-Di Ponio J et al.
Human Molecular Genetics, 2007
Structure-function analysis of delta trafficking, receptor binding and signaling in Drosophila.
Parks AL et al.
Genetics, 2006
Expression of mutant JAGGED1 alleles in patients with Alagille syndrome.
Boyer J et al.
Human Genetics, 2005
Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage.
Lu F et al.
American Journal of Human Genetics, 2003
Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.
Morrissette JD et al.
Human Molecular Genetics, 2001
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.
Colliton RP et al.
Human Mutation, 2001
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