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Article

Multiple trichoepitheliomas--a novel mutation in the CYLD gene.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Jul 2010

Amaro C, Freitas I, Lamarão P, Afonso A, Skrzypczak M, Heinritz W

Abstract excerpt

BACKGROUND: Trichoepitheliomas are benign neoplasms with follicular differentiation. They may present as a solitary lesion or as multiple lesions. Multiple trichoepitheliomas are inherited in an autosomal dominant pattern within families, with both variable penetrance and expressivity. Recent investigations support that mutations in CYLD, the gene affected in familial cylindromatosis as well as in Brooke-Spiegler...

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Share to Amino Acid Sequence
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Share to Chromatography, High Pressure Liquid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Deubiquitinating Enzyme CYLD

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Source

Identifiers

PMID: 19929939
DOI: 10.1111/j.1468-3083.2009.03497.x

Genes

CYLD

Variants

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Multiple trichoepitheliomas--a novel mutation in the CYLD gene.PMID 19929939Read ↗

[Multiple familial trichoepithelioma: a new CYLD gene mutation].Semantic proximity Read ↗

A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma.Semantic proximity Read ↗

Multiple familial trichoepithelioma with a novel mutation of the CYLD gene.Semantic proximity Read ↗

A novel frameshift mutation in the cylindromatosis (CYLD) gene in a Chinese family with multiple familial trichoepithelioma.Semantic proximity Read ↗

The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.Semantic proximity Read ↗

A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma.Semantic proximity Read ↗

A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.Semantic proximity Read ↗

Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients.Semantic proximity Read ↗

Brooke-Spiegler Syndrome and Phenotypic Variants: An Update.Semantic proximity Read ↗

Brooke‐Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor‐suppressor genesSemantic proximity Read ↗

Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene.Semantic proximity Read ↗

Trichoepithelioma.Semantic proximity Read ↗

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