Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family.

Molecular genetics & genomic medicine - 1 Oct 2020

Zhu Ruizheng, Xu Jie, Shen Juan, Li Wenru, Tan Fei, Li Changchang, Wei Zhichen, Liu Yeqiang, Bai Yun

Abstract excerpt

BACKGROUND: CYLD cutaneous syndrome (CCS; syn. Brooke-Spiegler syndrome) is a rare autosomal dominant hereditary disease characterized by multiple adnexal skin tumors including cylindromas, spiradenomas, and trichoepitheliomas. More than 100 germline mutations of the cylindromatosis (CYLD) gene have been reported in CCS and most of them are frameshift mutations or small alterations. METHODS: We identified a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Deubiquitinating Enzyme CYLD
Share to Gene Deletion

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Heterozygote

Share to Neoplastic Syndromes, Hereditary

Share to Pedigree

Share to Phenotype

Share to Protein Domains

Share to Skin Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 32783365
DOI: 10.1002/mgg3.1441
PMCID: PMC7549610

Genes

CYLD
CCS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family.PMID 32783365Read ↗

The cylindromatosis (CYLD) gene and head and neck tumorigenesisSemantic proximity Read ↗

Large germline deletions of the CYLD gene in patients with Brooke-Spiegler syndrome and multiple familial trichoepithelioma.Semantic proximity Read ↗

Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.Semantic proximity Read ↗

Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation.Semantic proximity Read ↗

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

Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.Semantic proximity Read ↗

Genetic Testing in CYLD Cutaneous Syndrome: An UpdateSemantic proximity Read ↗

Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene.Semantic proximity Read ↗

A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16.Semantic proximity Read ↗

Identification of the familial cylindromatosis tumour-suppressor gene.Semantic proximity Read ↗

Brooke-Spiegler Syndrome: Report of 10 Patients From 8 Families With Novel Germline MutationsSemantic proximity Read ↗

Inherited cylindromas: lessons from a rare tumour.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.