Associated Papers
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 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
CYLD mutation characterizes a subset of HPV-positive head and neck squamous cell carcinomas with distinctive genomics and frequent cylindroma-like histologic features.
Williams EA et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021
Genetic Testing in CYLD Cutaneous Syndrome: An Update.
Nagy N et al.
The Application of Clinical Genetics, 2021
Identification of putative phenotype-modifying genetic factors associated with phenotypic diversity in Brooke-Spiegler syndrome.
Pap ÉM et al.
Experimental Dermatology, 2020
A large family with CYLD cutaneous syndrome: medical genetics at the community level.
Arruda AP et al.
Journal of Community Genetics, 2020
Inherited pulmonary cylindromas: extending the phenotype of CYLD mutation carriers.
Brown SM et al.
The British Journal of Dermatology, 2018
The tumour suppressor CYLD regulates the p53 DNA damage response.
Fernández-Majada V et al.
Nature Communications, 2016
Overexpression of MYB drives proliferation of CYLD-defective cylindroma cells.
Rajan N et al.
The Journal of Pathology, 2016
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
Brooke-Spiegler Syndrome - an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation.
Pinho AC et al.
Journal of Dermatological Case Reports, 2015
Phenotype-genotype correlations for clinical variants caused by CYLD mutations.
Nagy N et al.
European Journal of Medical Genetics, 2015
Hematopoietic stem cell quiescence and function are controlled by the CYLD-TRAF2-p38MAPK pathway.
Tesio M et al.
The Journal of Experimental Medicine, 2015
A novel CYLD germline mutation in Brooke-Spiegler syndrome.
Guardoli D et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2015
Brooke-Spiegler syndrome tumor spectrum beyond the skin: a patient carrying germline R936X CYLD mutation and a somatic CYLD mutation in Brenner tumor.
Ponti G et al.
Future Oncology (london, England), 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
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
Dysregulated TRK signalling is a therapeutic target in CYLD defective tumours.
Rajan N et al.
Oncogene, 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
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
Morphologic diversity of malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma based on the study of 24 cases, sporadic or occurring in the setting of Brooke-Spiegler syndrome.
Kazakov DV et al.
The American Journal of Surgical Pathology, 2009
CYLD mutations in familial skin appendage tumours.
Saggar S et al.
Journal of Medical Genetics, 2008
The structure of the CYLD USP domain explains its specificity for Lys63-linked polyubiquitin and reveals a B box module.
Komander D et al.
Molecular Cell, 2008
Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene.
Zhang G et al.
Experimental Dermatology, 2006
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.
Young AL et al.
Clinical Genetics, 2006
A recurrent R936X mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma.
Zhang QG et al.
Indian Journal of Dermatology, Venereology and Leprology, 0