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Article

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

American journal of human genetics - 1 Jul 2006

McDaniell Ryan, Warthen Daniel M, Sanchez-Lara Pedro A, Pai Athma, Krantz Ian D, Piccoli David A, Spinner Nancy B

Abstract excerpt

Alagille syndrome (AGS) is caused by mutations in the gene for the Notch signaling pathway ligand Jagged1 (JAG1), which are found in 94% of patients. To identify the cause of disease in patients without JAG1 mutations, we screened 11 JAG1 mutation-negative probands with AGS for alterations in the gene for the Notch2 receptor (NOTCH2). We found NOTCH2 mutations segregating in two families and identified five...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 16773578
DOI: 10.1086/505332
PMCID: PMC1474136

Genes

NOTCH2
JAG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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