Associated Papers
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.
Feng X et al.
Scientific Reports, 2024
38245625 (PubMed )
Supplement: 41598_2024_52357_MOESM1_ESM.xlsx › Sheet1
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
Sullivan JM et al.
The Journal of Clinical Investigation, 2020
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
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
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