Evidence map›Paper›PMID 41466489›Full record

ArticleExperimental dermatology2025

Mimicking Darier Disease In Vitro: A Human Epidermal Organoid Approach.

Rishika Agarwal, Erika Parente, Simon M Müller, Elisabeth A Kappos, Tanja Dittmar, Michael Kunz, Roni P Dodiuk-Gad, Nisim Asayag, Johann E Gudjonsson, Beda Mühleisen and 2 more

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In one paragraph

Article in Experimental dermatology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Article
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.

Rishika AgarwalDepartment of Biomedicine, University Hospital and University of Basel, Basel, Switzerland.ORCID https://orcid.org/0000-0002-1804-7873
Erika ParenteDepartment of Biomedicine, University Hospital and University of Basel, Basel, Switzerland.ORCID https://orcid.org/0009-0009-9529-389X
Simon M MüllerDermatology Department, University Hospital of Basel, Basel, Switzerland.ORCID https://orcid.org/0000-0002-0200-4254
Elisabeth A KapposDepartment of Plastic, Reconstructive, Aesthetic, and Hand Surgery, University Hospital Basel, Basel, Switzerland.
Tanja DittmarDepartment of Biomedicine, University Hospital and University of Basel, Basel, Switzerland.ORCID https://orcid.org/0000-0002-2807-6926
Michael KunzDermatology Department, University Hospital of Basel, Basel, Switzerland.
Roni P Dodiuk-GadBruce Rappaport Faculty of Medicine, Technion-Institute of Technology, Haifa, Israel.
Nisim AsayagBruce Rappaport Faculty of Medicine, Technion-Institute of Technology, Haifa, Israel.
Johann E GudjonssonDepartment of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.
Beda MühleisenDermatology Department, University Hospital of Basel, Basel, Switzerland.
Emmanuel ContassotDepartment of Biomedicine, University Hospital and University of Basel, Basel, Switzerland.
Alexander A NavariniDepartment of Biomedicine, University Hospital and University of Basel, Basel, Switzerland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Darier disease (DD) is a rare genetic disorder caused by mutations in the ATP2A2 gene, resulting in calcium dysregulation and impaired keratinocyte adhesion. Due to the paucity of suitable models, understanding the molecular mechanisms of DD has been challenging. In this study, we developed a human epidermal organoid model derived from DD patient keratinocytes to investigate the molecular and phenotypic features of the disease. The model recapitulates key aspects of DD pathology, including acantholysis, desmosomal dysfunction and barrier disruption, with mislocalisation of desmosomal proteins. Furthermore, the transcriptomic landscape of DD organoids reflected broad perturbations in epidermal structure. Enrichment of pathways associated with epidermal development, cell adhesion, cell migration and keratinocyte differentiation underscored the multifaceted disruption of epithelial integrity and homeostasis that defines DD pathology. Our work demonstrates that epidermal organoids derived from patients with Darier disease are a valuable model for studying DD. They provide a platform to study complex genetic epidermal disorders and personalised drug screening.

Indexed as

Darier DiseaseEpidermisKeratinocytesOrganoidsCell AdhesionCell DifferentiationCell MovementDesmosomesHumansSarcoplasmic Reticulum Calcium-Transporting ATPasesATP2A2 protein, humanSarcoplasmic Reticulum Calcium-Transporting ATPasesacantholysisDarier diseasedyskeratosisorganoids

Identifiers

PMID41466489
PMCPMC12749551

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Registered trials

None linked

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.