Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

The Journal of investigative dermatology - 1 Apr 2007

Lesueur Fabienne, Bouadjar Bakar, Lefèvre Caroline, Jobard Florence, Audebert Stéphanie, Lakhdar Hakima, Martin Ludovic, Tadini Gianluca, Karaduman Aysen, Emre Serap, Saker Safa, Lathrop Mark, Fischer Judith

Abstract excerpt

We report clinical and molecular findings in 20 patients from 11 families with autosomal recessive congenital ichthyosis (ARCI) linked to chromosome 17p13, and attributed to mutations in the ALOX gene cluster, which includes three lipoxygenase genes, ALOXE3, ALOX12B, and ALOX15B. We identified six novel missense mutations and one novel deletion leading to a premature stop codon in ALOX12B in only six out of the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arachidonate 12-Lipoxygenase
Share to Chromosomes, Human, Pair 17

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Terminator

Share to Gene Deletion

Share to Genes, Recessive

Share to Genetic Heterogeneity

Share to Ichthyosis

Share to Mutation, Missense

Source

Identifiers

PMID: 17139268
DOI: 10.1038/sj.jid.5700640

Genes

ALOXE3

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.PMID 17139268Read ↗

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

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 ↗

[Clinical and genetic analysis of a patient with autosomal recessive congenital ichthyosis due to compound heterozygous variants of ALOX12B gene].Semantic proximity Read ↗

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.Semantic proximity Read ↗

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

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.Semantic proximity Read ↗

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

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.Semantic proximity Read ↗

Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.Semantic proximity Read ↗

Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.Semantic proximity Read ↗

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.