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Article

Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene.

American journal of medical genetics - 1 Oct 2001

Stankiewicz P, Rujner J, Löffler C, Krüger A, Nimmakayalu M, Piłacik B, Krajewska-Walasek M, Gutkowska A, Hansmann I, Giannakudis I

Abstract excerpt

Mutations in the human gene Jagged1 (JAG1) localized in 20p12 have been recently identified as causal for the anomalies found in patients with Alagille syndrome (AGS). This gene encodes a ligand for the Notch1 transmembrane receptor, which plays a key role in cell-to-cell signaling during differentiation and is conserved from C. elegans to human. We report a paracentric inversion (PAI) of chromosome 20p12.2p13 in...

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Source

Identifiers

PMID: 11568926
DOI: 10.1002/ajmg.1531

Genes

JAG1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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