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Article

A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier.

The Journal of investigative dermatology - 1 Aug 2007

Moran Jennifer L, Qiu Haiyan, Turbe-Doan Annick, Yun Yujuan, Boeglin William E, Brash Alan R, Beier David R

Abstract excerpt

Nonbullous congenital ichthyosiform erythroderma (NCIE) is a nonsyndromic form of autosomal recessive congenital ichthyosis characterized by hyperkeratosis and a disruption in the epidermal permeability barrier. Identification of mutations in two lipoxygenases (LOXs), ALOX12B (12R-LOX) and ALOXE3 (eLOX3), and further functional studies implicate ALOX12B and ALOXE3 in the etiology of NCIE. Here, we report a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17429434
DOI: 10.1038/sj.jid.5700825

Genes

LOX
ALOXE3

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.

Related research

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A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier.PMID 17429434Read ↗

Development of an ichthyosiform phenotype in Alox12b-deficient mouse skin transplants.Semantic proximity Read ↗

Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.Semantic proximity Read ↗

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.Semantic proximity Read ↗

Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12-LOX and eLOX3Semantic proximity Read ↗

Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.Semantic proximity Read ↗

Hepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis form.Semantic proximity Read ↗

Aloxe3 knockout mice reveal a function of epidermal lipoxygenase-3 as hepoxilin synthase and its pivotal role in barrier formation.Semantic proximity Read ↗

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Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.Semantic proximity Read ↗

The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis.Semantic proximity Read ↗

A Mouse Model of Harlequin Ichthyosis Delineates a Key Role for Abca12 in Lipid HomeostasisSemantic proximity Read ↗

Chronic activation of Toll-like receptor 2 induces an ichthyotic skin phenotype.Semantic proximity Read ↗

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