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Article

Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage.

American journal of human genetics - 1 Apr 2003

Lu Fengmin, Morrissette Jennifer J D, Spinner Nancy B

Abstract excerpt

Mutations of Jagged 1 (JAG1), a ligand in the Notch signaling pathway, cause Alagille syndrome (AGS). AGS is an autosomal dominant, multisystem disorder with variable expressivity, characterized by bile duct paucity and resultant liver disease in combination with cardiac, ocular, skeletal, and fa...

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Share to Alagille Syndrome
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intercellular Signaling Peptides and Proteins

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Source

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Identifiers

PMID: 12649809
DOI: 10.1086/374386
PMCID: PMC1180339

Genes

JAG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12649809-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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