Associated Papers
CYLD novel splicing mutation in a patient with CYLD cutaneous syndrome with basal cell carcinomas.
Nishio J et al.
The Journal of Dermatology, 2025
TRAF3 and NBR1 both influence the effect of the disease-causing CYLD(Arg936X) mutation on NF-κB activity.
Danis J et al.
Experimental Dermatology, 2021
Genetic Testing in CYLD Cutaneous Syndrome: An Update.
Nagy N et al.
The Application of Clinical Genetics, 2021
A large family with CYLD cutaneous syndrome: medical genetics at the community level.
Arruda AP et al.
Journal of Community Genetics, 2020
Multiple familial trichoepithelioma with a novel mutation of the CYLD gene.
Fujii A et al.
The Journal of Dermatology, 2017
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.
Farkas K et al.
Bmc Genetics, 2016
Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation.
Tantcheva-Poór I et al.
Dermatology (basel, Switzerland), 2016
The cylindromatosis (CYLD) gene and head and neck tumorigenesis.
Verhoeft KR et al.
Cancers of the Head & Neck, 2016
Phenotype-genotype correlations for clinical variants caused by CYLD mutations.
Nagy N et al.
European Journal of Medical Genetics, 2015
Late-onset Brooke-Spiegler syndrome with family histories of various cancers.
Matsuda M et al.
The Journal of Dermatology, 2014
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
A mutational hotspot in CYLD causing cylindromas: a comparison of phenotypes arising in different genetic backgrounds.
Nagy N et al.
Acta Dermato-venereologica, 2013
A novel germline mutation in the CYLD gene in a Slovak patient with Brooke-Spiegler syndrome.
Kacerovská D et al.
Ceskoslovenska Patologie, 2013
Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens.
Grossmann P et al.
The American Journal of Dermatopathology, 2013
Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes.
Ponti G et al.
Journal of Cutaneous Pathology, 2012
Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients.
Kazakov DV et al.
The American Journal of Dermatopathology, 2011
Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis.
van den Ouweland AM et al.
Familial Cancer, 2011
Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.
Rajan N et al.
Archives of Dermatology, 2009
A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology.
Kazakov DV et al.
The American Journal of Dermatopathology, 2009
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.
Blake PW et al.
Human Mutation, 2009
Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene.
Zhang G et al.
Experimental Dermatology, 2006
Mild phenotype of familial cylindromatosis associated with an R758X nonsense mutation in the CYLD tumour suppressor gene.
Oiso N et al.
The British Journal of Dermatology, 2004
Identification of the familial cylindromatosis tumour-suppressor gene.
Bignell GR et al.
Nature Genetics, 2000
Brooke-Spiegler Syndrome in Japanese Siblings with an R758X Mutation: A Case Report.
Takaya K et al.
Case Reports in Dermatology, 0