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Article

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.

Journal of applied genetics - 1 Aug 2014

Jurkiewicz Dorota, Gliwicz Dorota, Ciara Elżbieta, Gerfen Jennifer, Pelc Magdalena, Piekutowska-Abramczuk Dorota, Kugaudo Monika, Chrzanowska Krystyna, Spinner Nancy B, Krajewska-Walasek Małgorzata

Abstract excerpt

Alagille syndrome (ALGS) is an autosomal dominant disorder characterized by developmental abnormalities in several organs including the liver, heart, eyes, vertebrae, kidneys, and face. The majority (90-94%) of ALGS cases are caused by mutations in the JAG1 (JAGGED1) gene, and in a small percent of patients (∼1%) mutations in the NOTCH2 gene have been described. Both genes are involved in the Notch signaling...

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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: 24748328
DOI: 10.1007/s13353-014-0212-2
PMCID: PMC4102774

Genes

JAG1
NOTCH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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