ArticleJCI insight2023
Transcriptional profiling of rare acantholytic disorders suggests common mechanisms of pathogenesis.
Article in JCI insight, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 19 citations in OpenAlex.
- Molecular Changes Induced by Carbon Dioxide Laser in Hailey-Hailey Disease: A Potential Mechanism Underlying Treatment Efficacy.International journal of dermatology · 2026Trial
- Bimekizumab as an Effective Treatment in Darier Disease: Clinical Outcomes of a Single-Center Retrospective Analysis of Patients Treated with Biologics.Dermatology and therapy · 2026Article
- Darier disease-A review highlighting new insights from the Darier Disease International Task Force.Journal of the European Academy of Dermatology and Venereology : JEADV · 2026Review
- Insulin-regulated actin dynamics is disrupted in a human keratinocyte model of Hailey-Hailey disease.American journal of physiology. Cell physiology · 2026Article
- Transforming destructive mechanical cues into therapeutic power: Activation of PIEZO1 and TRPV4 counteracts mechano-induced damage of cellular junctions in Hailey-Hailey disease.Journal of advanced research · 2026Article
- Failed metabolic adaptation to stress contributes to epidermal cell adhesion defects in Darier disease.Science advances · 2026Article
- Mimicking Darier Disease In Vitro: A Human Epidermal Organoid Approach.Experimental dermatology · 2025Article
- Ultraviolet-Induced Fluorescence and Sub-Ultraviolet Reflectance Dermatoscopy of Grover's Disease (Transient Acantholytic Dermatosis): A Retrospective Single-Center Cohort Study.Dermatology practical & conceptual · 2025Article
- Flower dependent trafficking of lamellar bodies facilitates maturation of the epidermal barrier.Nature communications · 2025Article
- Pumping the Breaks on Acantholytic Skin Disorders: Targeting Calcium Pumps, Desmosomes, and Downstream Signaling in Darier, Hailey-Hailey, and Grover Disease.The Journal of investigative dermatology · 2025Review
- Meeting report - Alpine desmosome disease meeting 2024: advances and emerging topics in desmosomes and related diseases.Journal of cell science · 2025Article
- Effective treatment of recalcitrant Hailey-Hailey disease with dupilumab.JAAD case reports · 2025Article
- ERK hyperactivation in epidermal keratinocytes impairs intercellular adhesion and drives Grover disease pathology.JCI insight · 2024Article
- Grover's Disease Association with Cutaneous Keratinocyte Cancers: More than a Coincidence?International journal of molecular sciences · 2024Review
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
Abstract
Darier, Hailey-Hailey, and Grover diseases are rare acantholytic skin diseases. While these diseases have different underlying causes, they share defects in cell-cell adhesion in the epidermis and desmosome organization. To better understand the underlying mechanisms leading to disease in these conditions, we performed RNA-seq on lesional skin samples from patients. The transcriptomic profiles of Darier, Hailey-Hailey, and Grover diseases were found to share a remarkable overlap, which did not extend to other common inflammatory skin diseases. Analysis of enriched pathways showed a shared increase in keratinocyte differentiation, and a decrease in cell adhesion and actin organization pathways in Darier, Hailey-Hailey, and Grover diseases. Direct comparison to atopic dermatitis and psoriasis showed that the downregulation in actin organization pathways was a unique feature in the acantholytic skin diseases. Furthermore, upstream regulator analysis suggested that a decrease in SRF/MRTF activity was responsible for the downregulation of actin organization pathways. Staining for MRTFA in lesional skin samples showed a decrease in nuclear MRTFA in patient skin compared with normal skin. These findings highlight the significant level of similarity in the transcriptome of Darier, Hailey-Hailey, and Grover diseases, and identify decreases in actin organization pathways as a unique signature present in these conditions.
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Registered trials
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.