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Article

A mutational hotspot in CYLD causing cylindromas: a comparison of phenotypes arising in different genetic backgrounds.

Acta dermato-venereologica - 1 Nov 2013

Nagy Nikoletta, Rajan Neil, Farkas Katalin, Kinyó Agnes, Kemény Lajos, Széll Márta

Abstract excerpt

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Topics

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Share to Carcinoma, Adenoid Cystic
Share to Deubiquitinating Enzyme CYLD
Share to DNA Mutational Analysis
Share to Haplotypes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Neoplastic Syndromes, Hereditary

Share to Skin Neoplasms

Share to Tumor Suppressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 23584127
DOI: 10.2340/00015555-1590
PMCID: PMC6166779

Genes

CYLD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A mutational hotspot in CYLD causing cylindromas: a comparison of phenotypes arising in different genetic backgrounds.PMID 23584127Read ↗

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

Understanding Inherited Cylindromas: Clinical Implications of Gene Discovery.Semantic proximity Read ↗

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

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

Metastatic malignant cylindroma arising on a background of digenic inheritance of BRCA2 and CYLD pathogenic variants targeted with PARP inhibitionSemantic 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 ↗

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

Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13.Semantic proximity Read ↗

Mild phenotype of familial cylindromatosis associated with an R758X nonsense mutation in the CYLD tumour suppressor gene.Semantic proximity Read ↗

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

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

ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinomaSemantic proximity Read ↗

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