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Article

Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction

4 Aug 2012

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 22864982
DOI: 10.1007/s00441-012-1474-9

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Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunctionPMID 22864982Read ↗

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

[The role in harlequin ichthyosis of mutations in lipid transporter ABCA12].Semantic proximity Read ↗

Harlequin ichthyosis unmasked: a defect of lipid transport.Semantic proximity Read ↗

Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.Semantic proximity Read ↗

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.Semantic proximity Read ↗

Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases.Semantic proximity Read ↗

Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.Semantic proximity Read ↗

ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.Semantic proximity Read ↗

Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis.Semantic proximity Read ↗

ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters.Semantic proximity Read ↗

Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defectsSemantic proximity Read ↗

Ichthyoses: new insights unravel defects in skin barrier function resulting in diverse clinical and morphological phenotypes.Semantic proximity Read ↗

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