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

TMC6/8-associated epidermodysplasia verruciformis: germline variants and a complex structural alteration in a skin cancer predisposition syndrome.

European journal of human genetics : EJHG - 1 Mar 2026

Durmaz Ceren Damla, Güleray Lafcı Naz, Erkan Dilsu Dicle, Akçin Ömer Çağrı, Bulut Nesibe, Kuş Fatih, Ateş Özdemir Deniz, Neesen Jürgen, Dremsek Paul, Dizdar Ömer

Abstract excerpt

Hereditary epidermodysplasia verruciformis (EV) represents a paradigmatic inherited cutaneous syndrome linking viral susceptibility, immunity, and oncogenesis. Although biallelic variants in CIB1, TMC6, and TMC8-encoding components of the keratinocyte-intrinsic antiviral complex-underlie most cases, the full mutational spectrum and its oncologic implications remain incompletely defined. We performed integrated...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Predisposition to Disease
Share to Germ-Line Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Pedigree

Share to Skin Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 41708839
DOI: 10.1038/s41431-026-02043-8
PMCID: PMC12963407

Genes

TMC6
TMC8
CIB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

TMC6/8-associated epidermodysplasia verruciformis: germline variants and a complex structural alteration in a skin cancer predisposition syndrome.PMID 41708839Read ↗

Whole transcriptome–based skin virome profiling in typical epidermodysplasia verruciformis reveals α-, β-, and γ-HPV infectionsSemantic proximity Read ↗

Identification of LCK mutation in a family with atypical epidermodysplasia verruciformis with T-cell defects and virus-induced squamous cell carcinoma.Semantic proximity Read ↗

Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease.Semantic proximity Read ↗

Epidermodysplasia verruciformis.Semantic proximity Read ↗

Epidermodysplasia Verruciformis and Vδ2 γδ T-cell Expansion in STK4 Deficiency.Semantic proximity Read ↗

Next-generation sequencing in dermatologySemantic proximity Read ↗

Epidermodysplasia verruciformis with squamous cell carcinomas and the identification of a novel TMC8 mutation.Semantic proximity Read ↗

Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis.Semantic proximity Read ↗

Synchronous Epidermodysplasia Verruciformis and Intraepithelial Lesion of the Vulva is Caused by Coinfection with α-HPV and β-HPV Genotypes and Facilitated by Mutations in Cell-Mediated Immunity GenesSemantic proximity Read ↗

TMC8 mutation in a Turkish family with epidermodysplasia verruciformis including laryngeal papilloma and recurrent skin carcinoma.Semantic proximity Read ↗

Synchronous Epidermodysplasia Verruciformis and Intraepithelial Lesion of the Vulva Is Caused by Coinfection With Alpha-Human Papillomavirus and Beta-Human Papillomavirus Genotypes and Facilitated by Mutations in Cell-Mediated Immunity Genes.Semantic proximity Read ↗

Re-evaluation of epidermodysplasia verruciformis: Reconciling more than 90 years of debate.Semantic proximity Read ↗

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