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Article

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

Human mutation - 1 Oct 2005

Eckl Katja-Martina, Krieg Peter, Küster Wolfgang, Traupe Heiko, André Françoise, Wittstruck Nadine, Fürstenberger Gerhard, Hennies Hans Christian

Abstract excerpt

Autosomal-recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous group of severe hereditary keratinization disorders characterized by intense scaling of the whole integument, and differences in color and shape. It is often associated with erythema. To date, six loci for ARCI have been mapped. Mutations in ALOXE3 and ALOX12B on chromosome 17p13, which code for two different epidermal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16116617
DOI: 10.1002/humu.20236

Genes

ALOXE3
LOX

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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Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.PMID 16116617Read ↗

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 ↗

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 ↗

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

Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.Semantic proximity Read ↗

Congenital Ichthyosis and Recurrent Eczema Associated with a Novel ALOXE3 Mutation.Semantic proximity Read ↗

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

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

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The lipoxygenase gene ALOXE3 implicated in skin differentiation encodes a hydroperoxide isomerase.Semantic proximity Read ↗

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