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Article

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease.

Gastroenterology - 1 Nov 2004

Hadj-Rabia Smail, Baala Lekbir, Vabres Pierre, Hamel-Teillac Dominique, Jacquemin Emmanuel, Fabre Monique, Lyonnet Stanislas, De Prost Yves, Munnich Arnold, Hadchouel Michelle, Smahi Asma

Abstract excerpt

BACKGROUND AND AIMS: Most human and animal cholestatic disorders are associated with changes in hepatocyte cytoskeleton and tight junctions (TJs). These changes are usually secondary and nonspecific phenomena, both in intra- and extrahepatic cholestasis. Recently, missense mutations in TJ protein 2 (ZO-2) have been identified in patients with familial hypercholanemia. In the liver, TJs separate bile flow from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15521008
DOI: 10.1053/j.gastro.2004.07.022

Genes

NISCH

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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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