Observational studyNature communications2021
Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis.
Observational study in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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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.
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Who cites it
29 citing papers in PubMed, 41 citations in OpenAlex.
- Understanding the Variability of Peanut-Oral Immunotherapy Responses by Multi-Omics Profiling of Immune Cells.Allergy · 2025Trial
- Effects of proton pump inhibitors on remodeling and fibrosis in eosinophilic esophagitis.The Journal of allergy and clinical immunology · 2026Article
- Eosinophilic Esophagitis: Mechanisms of Disease and Approach to Treatment.Current allergy and asthma reports · 2026Review
- Epigenetic and transcriptional programming of murine eosinophils in the esophagus.Nature communications · 2025Article
- The epithelial barrier theory proposes a comprehensive explanation for the origins of allergic and other chronic noncommunicable diseases.FEBS letters · 2025Review
- The oesophagus as an immune organ.Nature reviews. Gastroenterology & hepatology · 2025Review
- Overlap of Genomic and Transcriptomic Genes Identified in Familial Eosinophilic Esophagitis.Gastroenterology · 2025Article
- Differing Epithelial and Immunologic Activation Patterns Following Food Reintroduction Reveal Different Transcriptional Profiles in Active Eosinophilic Esophagitis.Gastroenterology · 2025Article
- The Diminution of R-Loops Generated by LncRNA DSP-AS1 Inhibits DSP Gene Transcription to Impede the Re-Epithelialization During Diabetic Wound Healing.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Type 2 immunity in allergic diseases.Cellular & molecular immunology · 2025Review
- Advances in omics data for eosinophilic esophagitis: moving towards multi-omics analyses.Journal of gastroenterology · 2024Review
- Eosinophilic Esophagitis and Inflammatory Bowel Disease: What Are the Differences?International journal of molecular sciences · 2024Review
- Common and disparate clinical presentations and mechanisms in different eosinophilic gastrointestinal diseases.The Journal of allergy and clinical immunology · 2024Review
- Development and dysfunction of structural cells in eosinophilic esophagitis.The Journal of allergy and clinical immunology · 2024Review
- Review article: Emerging insights into the epidemiology, pathophysiology, diagnostic and therapeutic aspects of eosinophilic oesophagitis and other eosinophilic gastrointestinal diseases.Alimentary pharmacology & therapeutics · 2024Review
- Article
- Recent Advances in the Treatment of Eosinophilic Esophagitis.The journal of allergy and clinical immunology. In practice · 2023Review
- Calpain Regulation and Dysregulation-Its Effects on the Intercalated Disk.International journal of molecular sciences · 2023Review
- Genetic and Molecular Contributors in Eosinophilic Esophagitis.Current allergy and asthma reports · 2023Review
- The epithelial barrier theory: Development and exacerbation of allergic and other chronic inflammatory diseases.Asia Pacific allergy · 2023Review
Corrections and comments
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Authors and funding
21 authors at 1 institution in 1 country.
Funding
Abstract
Eosinophilic esophagitis (EoE) is a chronic allergic inflammatory disease with a complex underlying genetic etiology. Herein, we conduct whole-exome sequencing of a multigeneration EoE pedigree (discovery set) and 61 additional multiplex families with EoE (replication set). A series of rare, heterozygous, missense variants are identified in the genes encoding the desmosome-associated proteins DSP and PPL in 21% of the multiplex families. Esophageal biopsies from patients with these variants retain dilated intercellular spaces and decrease DSP and PPL expression even during disease remission. These variants affect barrier integrity, cell motility and RhoGTPase activity in esophageal epithelial cells and have increased susceptibility to calpain-14-mediated degradation. An acquired loss of esophageal DSP and PPL is present in non-familial EoE. Taken together, herein, we uncover a pathogenic role for desmosomal dysfunction in EoE, providing a deeper mechanistic understanding of tissue-specific allergic responses.
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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.