ArticleThe Journal of investigative dermatology2018
Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A.
Article in The Journal of investigative dermatology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 51 citations in OpenAlex.
- High-quality mouse reference genomes reveal the structural complexity of the murine protein-coding landscape.Cell genomics · 2026Article
- Review
- Dermal Injection of Recombinant Filaggrin-2 Ameliorates UVB-Induced Epidermal Barrier Dysfunction and Photoaging.Antioxidants (Basel, Switzerland) · 2024Article
- An Assessment of Administration Route on MSC-sEV Therapeutic Efficacy.Biomolecules · 2024Article
- Comparative genomics of sirenians reveals evolution of filaggrin and caspase-14 upon adaptation of the epidermis to aquatic life.Scientific reports · 2024Article
- Article
- Relevance of Coding Variation inJID innovations : skin science from molecules to population health · 2023Article
- Scleral Proteome in Noninfectious Scleritis Unravels Upregulation of Filaggrin-2 and Signs of Neovascularization.Investigative ophthalmology & visual science · 2023Article
- Uncommon variants in FLG2 and TCHHL1 are associated with remission of atopic dermatitis in a large longitudinal US cohort.Archives of dermatological research · 2022Article
- Coexistence of pachyonychia congenita and hidradenitis suppurativa: more than a coincidence.The British journal of dermatology · 2022Article
- Expression levels of filaggrin-2 in relation to drip loss in pigs.Animal bioscience · 2022Article
- Dermal Exposure to the Immunomodulatory Antimicrobial Chemical Triclosan Alters the Skin Barrier Integrity and Microbiome in Mice.Toxicological sciences : an official journal of the Society of Toxicology · 2021Article
- Cracking the Skin Barrier: Liquid-Liquid Phase Separation Shines under the Skin.JID innovations : skin science from molecules to population health · 2021Review
- Sphingosine 1-Phosphate Receptor 2 Is Central to Maintaining Epidermal Barrier Homeostasis.The Journal of investigative dermatology · 2021Article
- Biomarkers of neonatal skin barrier adaptation reveal substantial differences compared to adult skin.Pediatric research · 2021Article
- Experimental Models for the Study of Hereditary Cornification Defects.Biomedicines · 2021Review
- Improved noninvasive fetal variant calling using standardized benchmarking approaches.Computational and structural biotechnology journal · 2021Article
- Identification of candidate mediators of chemoresponse in breast cancer through therapy-driven selection of somatic variants.Breast cancer research and treatment · 2020Article
- Regulation of Filaggrin, Loricrin, and Involucrin by IL-4, IL-13, IL-17A, IL-22, AHR, and NRF2: Pathogenic Implications in Atopic Dermatitis.International journal of molecular sciences · 2020Review
- Non‑invasive proteome‑wide quantification of skin barrier‑related proteins using label‑free LC‑MS/MS analysis.Molecular medicine reports · 2020Article
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Authors and funding
19 authors at 5 institutions in 2 countries.
Funding
Abstract
Peeling skin syndromes form a large and heterogeneous group of inherited disorders characterized by superficial detachment of the epidermal cornified cell layers, often associated with inflammatory features. Here we report on a consanguineous family featuring noninflammatory peeling of the skin exacerbated by exposure to heat and mechanical stress. Whole exome sequencing revealed a homozygous nonsense mutation in FLG2, encoding filaggrin 2, which cosegregated with the disease phenotype in the family. The mutation was found to result in decreased FLG2 RNA levels as well as almost total absence of filaggrin 2 in the patient epidermis. Filaggrin 2 was found to be expressed throughout the cornified cell layers and to colocalize with corneodesmosin that plays a crucial role in maintaining cell-cell adhesion in this region of the epidermis. The absence of filaggrin 2 in the patient skin was associated with markedly decreased corneodesmosin expression, which may contribute to the peeling phenotype displayed by the patients. Accordingly, using the dispase dissociation assay, we showed that FLG2 downregulation interferes with keratinocyte cell-cell adhesion. Of particular interest, this effect was aggravated by temperature elevation, consistent with the clinical phenotype. Restoration of corneodesmosin levels by ectopic expression rescued cell-cell adhesion. Taken together, the present data suggest that filaggrin 2 is essential for normal cell-cell adhesion in the cornified cell layers.
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