Mild phenotype of familial cylindromatosis associated with an R758X nonsense mutation in the CYLD tumour suppressor gene
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2004.06231.x/fullpdf
Reference9 articles.
1. Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12–q13: evidence for its role as a tumour suppressor gene
2. Identification of the familial cylindromatosis tumour-suppressor gene
3. Phenotype Diversity in Familial Cylindromatosis: A Frameshift Mutation in the Tumor Suppressor Gene CYLD Underlies Different Tumors of Skin Appendages
4. A Novel Missense Mutation in CYLD in a Family with Brooke–Spiegler Syndrome
5. CYLD is a deubiquitinating enzyme that negatively regulates NF-κB activation by TNFR family members
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1. Genetic Testing in CYLD Cutaneous Syndrome: An Update;The Application of Clinical Genetics;2021-10
2. TRAF3 and NBR1 both influence the effect of the disease‐causing CYLD(Arg936X) mutation on NF‐κB activity;Experimental Dermatology;2021-05-17
3. Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene;Archives of Dermatological Research;2018-07-04
4. Multiple familial trichoepithelioma with a novel mutation of the CYLD gene;The Journal of Dermatology;2017-05-10
5. The cylindromatosis (CYLD) gene and head and neck tumorigenesis;Cancers of the Head & Neck;2016-09-08
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