Harlequin ichthyosis unmasked: a defect of lipid transport (Q33865942)

29 July 2017

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title

Harlequin ichthyosis unmasked: a defect of lipid transport (English)

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29 July 2017

Alain Hovnanian

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language of work or name

English

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publication date

1 July 2005

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Journal of Clinical Investigation

29 July 2017

published in

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29 July 2017

volume

115

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29 July 2017

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29 July 2017

page(s)

1708-1710

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Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer

29 July 2017

cites work

1 reference

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Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

5 July 2018

1 reference

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Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

5 July 2018

1 reference

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Barrier function of the skin: "la raison d'être" of the epidermis

5 July 2018

1 reference

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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.

5 July 2018

1 reference

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ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells

5 July 2018

1 reference

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Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome

5 July 2018

1 reference

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Permeability barrier disorder in Niemann-Pick disease: sphingomyelin-ceramide processing required for normal barrier homeostasis

5 July 2018

1 reference

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Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus

5 July 2018

1 reference

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Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred

5 July 2018

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Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

5 July 2018

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The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease

5 July 2018

1 reference

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Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency

5 July 2018

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Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

5 July 2018

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Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

5 July 2018

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Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

5 July 2018

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DNA mutation analysis of Gaucher patients

5 July 2018

1 reference

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Abnormal Lamellar Granules in Harlequin Ichthyosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159155

X-linked ichthyosis due to steroid-sulphatase deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159155

The epidermal permeability barrier: from the early days at Harvard to emerging concepts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1159155

29 October 2018

Identifiers

DOI

10.1172/JCI25736

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29 July 2017

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29 July 2017

1 reference