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Article

CYLD mutations in familial skin appendage tumours

30 Jan 2008

Abstract excerpt

BACKGROUND: Germ-line mutations in CYLD are found in patients with familial skin appendage tumours. The protein product functions as a deubiquitinase enzyme, which negatively regulates NF-kappaB and c-Jun N-terminal kinase signalling. Brooke-Spiegler syndrome (BSS) is characterised by cylindromas, trichoepitheliomas and spiradenomas, whereas in familial cylindromatosis (FC) patients present with cylindromas and...

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Identifiers

PMID: 18234730
DOI: 10.1136/jmg.2007.056127

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Related research

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CYLD mutations in familial skin appendage tumoursPMID 18234730Read ↗

Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.Semantic proximity Read ↗

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CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.Semantic proximity Read ↗

Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.Semantic proximity Read ↗

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Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation.Semantic proximity Read ↗

Cylindromatosis and the <i>CYLD</i> gene: new lessons on the molecular principles of epithelial growth controlSemantic proximity Read ↗

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