ArticleThe Journal of biological chemistry2012
Lack of plakoglobin in epidermis leads to keratoderma.
Article in The Journal of biological chemistry, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Meta-Analysis of Keratoconus Transcriptomic Data Revealed Altered RNA Editing Levels Impacting Keratin Genomic Clusters.Investigative ophthalmology & visual science · 2023Pooled it
- The Role of Endoplasmic Reticulum Stress in Polycystic Ovary Syndrome and Exploration of Potential Therapeutic Targets.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- Mining single-cell data for cell type-disease associations.NAR genomics and bioinformatics · 2024Article
- Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.International journal of molecular sciences · 2022Review
- Roles for Ndel1 in keratin organization and desmosome function.Molecular biology of the cell · 2021Article
- Desmosomes as Signaling Hubs in the Regulation of Cell Behavior.Frontiers in cell and developmental biology · 2021Review
- Molecular mechanisms of arrhythmogenic cardiomyopathy.Nature reviews. Cardiology · 2019Review
- The N-cadherin interactome in primary cardiomyocytes as defined using quantitative proximity proteomics.Journal of cell science · 2019Article
- Lack of plakoglobin impairs integrity and wound healing in corneal epithelium in mice.Laboratory investigation; a journal of technical methods and pathology · 2018Article
- Desmosomes and Intermediate Filaments: Their Consequences for Tissue Mechanics.Cold Spring Harbor perspectives in biology · 2017Review
- Disruption of the Sjögren-Larsson Syndrome Gene Aldh3a2 in Mice Increases Keratinocyte Growth and Retards Skin Barrier Recovery.The Journal of biological chemistry · 2016Article
- IL-31-Driven Skin Remodeling Involves Epidermal Cell Proliferation and Thickening That Lead to Impaired Skin-Barrier Function.PloS one · 2016Article
- Mice with Hepatic Loss of the Desmosomal Protein γ-Catenin Are Prone to Cholestatic Injury and Chemical Carcinogenesis.The American journal of pathology · 2015Article
- Plakoglobin expression in fibroblasts and its role in idiopathic pulmonary fibrosis.BMC pulmonary medicine · 2015Article
- Desmosome regulation and signaling in disease.Cell and tissue research · 2015Review
- Cell adhesion in epidermal development and barrier formation.Current topics in developmental biology · 2015Review
- Desmosomes: regulators of cellular signaling and adhesion in epidermal health and disease.Cold Spring Harbor perspectives in medicine · 2014Review
- Plakoglobin but not desmoplakin regulates keratinocyte cohesion via modulation of p38MAPK signaling.The Journal of investigative dermatology · 2014Article
- Plakoglobin as a regulator of desmocollin gene expression.The Journal of investigative dermatology · 2013Article
- Beyond cell adhesion: the role of armadillo proteins in the heart.Cellular signalling · 2013Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Loss-of-function mutation of Jup has been associated with Naxos disease, which is characterized by arrhythmogenic cardiomyopathy and the cutaneous disorder palmoplantar keratoderma. Previously, we have shown that genetic ablation of Jup in cardiomyocytes in mice leads to arrhythmogenic cardiomyopathy similar to Naxos disease in humans. Currently, to determine the pathogenesis of Naxos disease-associated keratoderma, we generated Jup mutant mice by inactivating Jup restrictively in keratinocytes. Jup mutant mice largely recapitulated the clinical features of human palmoplantar keratoderma: overcornification and thickening of the epidermis. Jup mutant mice also suffered skin ulceration and inflammation. Cell apoptosis and proliferation were significantly elevated in Jup mutant epidermis. Ultrastructural analyses revealed the disruption of the assembly of desmosomes and adherens junctions in Jup mutant epidermis. We also demonstrated the compensational increase in β-catenin at Jup mutant cell-cell junctions without altering its signaling activities. Our findings provide important insights for understanding the pathogenesis of human palmoplantar keratoderma.
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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.