Evidence map›Paper›PMID 33972689›Full record

ArticleCommunications biology2021

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

Hyun-Sook Park, Eirini Papanastasi, Gabriela Blanchard, Elena Chiticariu, Daniel Bachmann, Markus Plomann, Fanny Morice-Picard, Pierre Vabres, Asma Smahi, Marcel Huber and 2 more

Open access · goldAbstract read
In one paragraph

Article in Communications biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.7field-weighted citation impact, top 31% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 12 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 4 institutions in 3 countries.

Hyun-Sook Park *Department of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland.
Eirini Papanastasi *Department of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland.
Gabriela BlanchardDepartment of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland.
Elena ChiticariuDepartment of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland.
Daniel BachmannDepartment of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland.
Markus PlomannCenter for Biochemistry, University of Cologne, Cologne, Germany.ORCID 0000-0001-6509-5627
Fanny Morice-PicardDepartment of Dermatology, CHU, Hôpital Pellegrin, Bordeaux, France.
Pierre VabresDepartment of Dermatology, CHU, Hôpital du Bocage, Dijon, France.ORCID 0000-0001-8693-3183
Asma SmahiParis Descartes University, Sorbonne Paris Cité, Paris, France.ORCID 0000-0002-6002-0981
Marcel HuberDepartment of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland.
Christine PichDepartment of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland.ORCID 0000-0002-6526-749X
Daniel HohlDepartment of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland. daniel.hohl@chuv.ch.
Hôpital de Beaumont · CHDélégation Paris 5 · FRHôpital Pellegrin · FRUniversity of Cologne · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 body of primary cilia in interphase. Tissue samples from ARP-T1-associated BDCS patients have reduced ciliary length. The severity of the shortened cilia significantly correlates with the ARP-T1 levels, which was further validated by ACTRT1 knockdown in culture cells. Thus, we propose that ARP-T1 participates in the regulation of cilia length and that ARP-T1-associated BDCS is a case of skin cancer with ciliopathy characteristics.

Indexed as

Basal Cell CarcinomaCiliaCiliopathiesHumansHypotrichosisKeratinocytesMicrofilament ProteinsMutationNeoplasms, Basal CellSkin NeoplasmsACTRT1 protein, humanMicrofilament Proteins

Identifiers

PMID33972689
PMCPMC8110579
OpenAlexW3161385541

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.