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
39043182 (PubMed )
Supplement: mmc1.pdf
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
Sullivan JM et al.
The Journal of Clinical Investigation, 2020
Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot.
Guida V et al.
Clinical Genetics, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
Bauer RC et al.
Human Mutation, 2010
The tetralogy of Fallot-associated G274D mutation impairs folding of the second epidermal growth factor repeat in Jagged-1.
Guarnaccia C et al.
The Febs Journal, 2009
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
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
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