ArticleThe American journal of pathology2011
Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.
Article in The American journal of pathology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 93 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.
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.
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Who cites it
93 citing papers in PubMed, 234 citations in OpenAlex.
- Lipid abnormalities in atopic skin are driven by type 2 cytokines.JCI insight · 2018Trial
- Filaggrin gene mutation c.3321delA is associated with various clinical features of atopic dermatitis in the Chinese Han population.PloS one · 2014Trial
- Recent advances in immunocompetent human skin-on-chip models: Construction strategies and biomedical applications.Bioactive materials · 2026Review
- The potential effects, mechanisms and translational perspectives of natural products in the treatment of atopic dermatitis.Chinese medicine · 2026Review
- Epithelial Barrier Dysfunction in Atopic Dermatitis, Allergic Contact Dermatitis, and Chronic Spontaneous Urticaria and its Therapeutic Implications.Current allergy and asthma reports · 2026Review
- Sexual Dimorphism in Allergic and Mast Cell-Associated Diseases.Clinical reviews in allergy & immunology · 2026Review
- Article
- The Acari Hypothesis, VIII: the human apocrine-mammary-microbiota axis andFrontiers in microbiology · 2026Article
- Co-morbid monogenic disorders at chromosome region 1q2: LMNA- and FLG-related disorders in a patient referred for assessment of joint hypermobility.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2025Article
- The stratum corneum barrier: impaired function in relation to associated lipids and proteins.Tissue barriers · 2025Review
- Saikosaponin A Recovers Impaired Filaggrin Levels in Inflamed Skin by Downregulating the Expression of FRA1 and c-Jun.Molecules (Basel, Switzerland) · 2024Article
- Charcot-Marie-Tooth Disease Type 4C and Autosomal Dominant Heterozygous Ichthyosis Vulgaris, with Bilateral Hearing Loss: A Novel Association with Review of Literature.Journal of pediatric genetics · 2024Article
- A Novel Recombinant Human Filaggrin Segment (rhFLA-10) Alleviated a Skin Lesion of Atopic Dermatitis.Bioengineering (Basel, Switzerland) · 2024Article
- Article
- Unraveling the skin; a comprehensive review of atopic dermatitis, current understanding, and approaches.Frontiers in immunology · 2024Review
- Keratinocyte-derived small extracellular vesicles supply antigens for CD1a-resticted T cells and promote their type 2 bias in the context of filaggrin insufficiency.Frontiers in immunology · 2024Article
- The Potential ofInternational journal of molecular sciences · 2023Article
- The Effect of γ-Aminobutyric Acid Intake on UVB- Induced Skin Damage in Hairless Mice.Biomolecules & therapeutics · 2023Article
- Ichthyosis vulgaris: An updated review.Skin health and disease · 2023Review
- Association Between Skin Acid Mantle, Natural Moisturizing Factors, and Antibacterial Activity AgainstClinical, cosmetic and investigational dermatology · 2023Article
33 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 5 countries.
Funding
Abstract
Although it is widely accepted that filaggrin (FLG) deficiency contributes to an abnormal barrier function in ichthyosis vulgaris and atopic dermatitis, the pathomechanism of how FLG deficiency provokes a barrier abnormality in humans is unknown. We report here that the presence of FLG mutations in Caucasians predicts dose-dependent alterations in epidermal permeability barrier function. Although FLG is an intracellular protein, the barrier abnormality occurred solely via a paracellular route in affected stratum corneum. Abnormal barrier function correlated with alterations in keratin filament organization (perinuclear retraction), impaired loading of lamellar body contents, followed by nonuniform extracellular distribution of secreted organelle contents, and abnormalities in lamellar bilayer architecture. In addition, we observed reductions in corneodesmosome density and tight junction protein expression. Thus, FLG deficiency provokes alterations in keratinocyte architecture that influence epidermal functions localizing to the extracellular matrix. These results clarify how FLG mutations impair epidermal permeability barrier function.
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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.