Evidence map›Paper›PMID 40565511›Full record

ReviewGenes2025

Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.

Barbara Moschella, Sabrina Busciglio, Enrico Ambrosini, Sofia Cesarini, Luca Caramanna, Sara Zanelli, Ilenia Rita Cannizzaro, Anita Luberto, Antonietta Taiani, Mirko Treccani and 21 more

Abstract readReview
In one paragraph

Review in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Darier disease-A review highlighting new insights from the Darier Disease International Task Force.Journal of the European Academy of Dermatology and Venereology : JEADV · 2026
    Review
  2. Article
  3. Article
  4. 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

31 authors.

Barbara MoschellaMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.
Sabrina BusciglioMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.
Enrico AmbrosiniMedical Genetics, University Hospital of Parma, 43126 Parma, Italy.ORCID 0000-0002-7520-3721
Sofia CesariniMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.
Luca CaramannaMedical Genetics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Sara ZanelliMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.ORCID 0009-0005-2520-0513
Ilenia Rita CannizzaroMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.ORCID 0009-0009-6816-6131
Anita LubertoMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.ORCID 0009-0003-4506-4120
Antonietta TaianiMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.ORCID 0009-0004-4282-6801
Mirko TreccaniMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.ORCID 0000-0002-9175-9455
Erika De SensiMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.ORCID 0000-0002-2104-4016
Patrizia CaggiatiMedical Genetics, University Hospital of Parma, 43126 Parma, Italy.
Cinzia AzzoniPathology Unit, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.
Lorena BottarelliPathology Unit, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.
Bruno LorussoPathology Unit, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.ORCID 0000-0003-1688-7841
Costanza Anna Maria LagrastaPathology Unit, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.ORCID 0000-0003-0552-9205
Anna MontanaroTranslational Hematology and Chemogenomics (THEC), University of Parma, 43126 Parma, Italy.ORCID 0000-0002-5229-5395
Luca PagliaroTranslational Hematology and Chemogenomics (THEC), University of Parma, 43126 Parma, Italy.ORCID 0000-0001-5500-3522
Raffaella ZamponiTranslational Hematology and Chemogenomics (THEC), University of Parma, 43126 Parma, Italy.ORCID 0000-0002-3313-1387
Andrea GherliTranslational Hematology and Chemogenomics (THEC), University of Parma, 43126 Parma, Italy.ORCID 0000-0003-3643-0056
Davide MartoranaMedical Genetics, University Hospital of Parma, 43126 Parma, Italy.ORCID 0000-0002-7572-7031
Michele Maria DominiciDermatology Unit, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.
Maria Beatrice De Felici Del GiudiceDermatology Unit, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.
Paola MozzoniDepartment of Medicine and Surgery, University of Parma, 43126 Parma, Italy.
Enrico Maria SiliniPathology Unit, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.ORCID 0000-0003-2578-3059
Iria NeriDermatology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Claudio FelicianiDermatology Unit, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.ORCID 0000-0003-0883-3210
Giovanni RotiTranslational Hematology and Chemogenomics (THEC), University of Parma, 43126 Parma, Italy.
Vera UlianaMedical Genetics, University Hospital of Parma, 43126 Parma, Italy.
Valeria BariliMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.ORCID 0000-0001-7711-2156
Antonio PercesepeMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.ORCID 0000-0002-3268-6786

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Darier's disease (DD) is a rare, autosomal dominant genodermatosis caused by pathogenic variants in the ATP2A2 gene, which encodes the SERCA2 protein, an endoplasmic reticulum ATPase Ca

Indexed as

Darier DiseaseSarcoplasmic Reticulum Calcium-Transporting ATPasesAnimalsCalciumEndoplasmic Reticulum StressHumansMutationUnfolded Protein ResponseATP2A2 protein, humanCalciumSarcoplasmic Reticulum Calcium-Transporting ATPasesATP2A2Darier diseaseepidermal signaling pathwaysSERCA2 dysfunction and calcium homeostasisskin diseasetherapeutic strategiesUPR

Identifiers

PMID40565511
PMCPMC12191890

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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.