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 mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Gilbert MA et al.
Human Mutation, 2019
Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome.
Tada M et al.
The Febs Journal, 2012
Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.
Le Caignec C et al.
American Journal of Human Genetics, 2002
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
Select a paper to view details