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CYLD genes and skin appendage tumors

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Author:
No author available
Journal Title:
International Journal of Dermatology and Venereology
Issue:
5
DOI:
10.3760/cma.j.issn.1673-4173.2011.05.018
Key Word:
基因,CYLD;肿瘤,附件和皮肤附件;基因型;表型;Genes,CYLD;Neoplasms,adnexal and skin appendage;Genotype;Phenotype

Abstract: Cylindromatosis, trichoepithelioma and Brooke-Spiegler syndrome are rare autosomal dominant tumors of skin appendages. As a tumor suppressor, CYLD gene mutation is closely related to the occurrence of these tumors. The CYLD gene encodes a deubiqutination enzyme which can negatively regulate nuclear factor (NF)-κB signaling pathway and suppress the initiation of tumors by deubiquitinating the tumor necrosis factor receptor-associated factor (TRAF) and the regulatory subunit of Ikappa B kinase complex. This review describes the advances in the researches in CYLD gene mutations in, genotype-phenotype correlation in, as well as the treatment of skin appendage tumors.

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