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Article

A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16.

Human genetics - 1 Jan 2000

Thomson S A, Rasmussen S A, Zhang J, Wallace M R

Abstract excerpt

Hereditary cylindromatosis (HC; MIM 132700) is an autosomal dominant condition characterized by benign skin appendage tumors most commonly on the scalp and face. Previously, the HC gene (CYLD1) was linked to chromosome 16q12-13, and tumors showed loss of heterozygosity (LOH), suggesting that CYLD...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 10480375
DOI: 10.1007/s004399900077

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10480375-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16.PMID 10480375Read ↗

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 ↗

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Understanding Inherited Cylindromas: Clinical Implications of Gene Discovery.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 ↗

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

Cylindromatosis and the <i>CYLD</i> gene: new lessons on the molecular principles of epithelial growth controlSemantic proximity Read ↗

Overexpression of MYB drives proliferation of CYLD-defective cylindroma cells.Semantic proximity Read ↗

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

Catalytic domain mutation in CYLD inactivates its enzyme function by structural perturbation and induces cell migration and proliferation.Semantic proximity Read ↗

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