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Article

A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome.

The Journal of investigative dermatology - 1 Sept 2007

Ben Selma Zied, Yilmaz Sebnem, Schischmanoff Pierre Olivier, Blom Astrid, Ozogul Candan, Laroche Liliane, Caux Frédéric

Abstract excerpt

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Share to 1-Acylglycerol-3-Phosphate O-Acyltransferase
Share to Epidermis
Share to Esterases
Share to Granulocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Lipase

Share to Lipid Metabolism, Inborn Errors

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Identifiers

PMID: 17495960
DOI: 10.1038/sj.jid.5700860

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome.PMID 17495960Read ↗

Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl.Semantic proximity Read ↗

A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis.Semantic proximity Read ↗

Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.Semantic proximity Read ↗

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

Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome.Semantic proximity Read ↗

A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.Semantic proximity Read ↗

G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient.Semantic proximity Read ↗

CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid.Semantic proximity Read ↗

Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase.Semantic proximity Read ↗

A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.Semantic proximity Read ↗

A novel mutation (G1249R) in exon 20 of the CFTR gene.Semantic proximity Read ↗

G to A polymorphism in the CACNLG gene.Semantic proximity Read ↗

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