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

ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies.

Communications biology - 10 May 2021

Park Hyun-Sook, Papanastasi Eirini, Blanchard Gabriela, Chiticariu Elena, Bachmann Daniel, Plomann Markus, Morice-Picard Fanny, Vabres Pierre, Smahi Asma, Huber Marcel, Pich Christine, Hohl Daniel

Abstract excerpt

Actin-Related Protein-Testis1 (ARP-T1)/ACTRT1 gene mutations cause the Bazex-Dupré-Christol Syndrome (BDCS) characterized by follicular atrophoderma, hypotrichosis, and basal cell cancer. Here, we report an ARP-T1 interactome (PXD016557) that includes proteins involved in ciliogenesis, endosomal recycling, and septin ring formation. In agreement, ARP-T1 localizes to the midbody during cytokinesis and the basal...

Read the complete abstract on PubMed

Topics

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

Share to Carcinoma, Basal Cell
Share to Cilia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ciliopathies

Share to Hypotrichosis

Share to Keratinocytes

Share to Microfilament Proteins

Share to Mutation

Share to Skin Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 33972689
DOI: 10.1038/s42003-021-02054-9
PMCID: PMC8110579

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies.PMID 33972689Read ↗

ARP-T1 is a ciliogenesis protein associated with a novel ciliopathy in inherited basal cell cancer, Bazex-Dupré-Christol SyndromeSemantic proximity Read ↗

Differential regulation of transition zone and centriole proteins contributes to ciliary base diversity.Semantic proximity Read ↗

Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.Semantic proximity Read ↗

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architectureSemantic proximity Read ↗

Mechanisms underlying morphological and functional changes of cilia in fibroblasts derived from patients bearing ARL3T31A and ARL3T31A/C118F mutations.Semantic proximity Read ↗

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.Semantic proximity Read ↗

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.Semantic proximity Read ↗

Dzip1 and Fam92 form a ciliary transition zone complex with cell type specific roles in Drosophila.Semantic proximity Read ↗

Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis.Semantic proximity Read ↗

Hypomorphic mutations of TRIP11 cause odontochondrodysplasiaSemantic proximity Read ↗

The Role of TCOF1 Gene in Health and Disease: Beyond Treacher Collins SyndromeSemantic proximity Read ↗

High-throughput gene expression analysis identifies p53-dependent and -independent pathways contributing to the adrenocortical dysplasia (acd) phenotype.Semantic proximity Read ↗

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