ArticleThe Journal of investigative dermatology2015
Distinct Impact of Two Keratin Mutations Causing Epidermolysis Bullosa Simplex on Keratinocyte Adhesion and Stiffness.
Article in The Journal of investigative dermatology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 27 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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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
27 citing papers in PubMed, 53 citations in OpenAlex.
- Influence of Aging and Diabetes on the Mechanical Properties of Mouse Skin.Dermatopathology (Basel, Switzerland) · 2025Article
- Applying the Atomic Force Microscopy Technique in Medical Sciences-A Narrative Review.Biomedicines · 2024Review
- Atomic force microscopy-mediated mechanobiological profiling of complex human tissues.Biomaterials · 2023Review
- Deacetylation via SIRT2 prevents keratin-mutation-associated injury and keratin aggregation.JCI insight · 2023Article
- Extracellular Adhesive Cues Physically Define Nucleolar Structure and Function.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2022Article
- Malignancy prediction of cutaneous and subcutaneous neoplasms in canines using B-mode ultrasonography, Doppler, and ARFI elastography.BMC veterinary research · 2022Article
- Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.International journal of molecular sciences · 2021Review
- Structural heterogeneity of cellular K5/K14 filaments as revealed by cryo-electron microscopy.eLife · 2021Article
- Review
- A Novel Mutation p.L461P inAnnals of dermatology · 2021Article
- Growth, lifetime, directional movement and myosin-dependent motility of mutant keratin granules in cultured cells.Scientific reports · 2021Article
- Article
- Damaged Keratin Filament Network Caused byFrontiers in genetics · 2021Article
- The keratin network of intermediate filaments regulates keratinocyte rigidity sensing and nuclear mechanotransduction.Science advances · 2021Article
- An intact keratin network is crucial for mechanical integrity and barrier function in keratinocyte cell sheets.Cellular and molecular life sciences : CMLS · 2020Article
- Article
- Withaferin-A Can Be Used to Modulate the Keratin Network of Intermediate Filaments in Human Epidermal Keratinocytes.International journal of molecular sciences · 2020Article
- Analysis ofMedical journal of the Islamic Republic of Iran · 2020Article
- A Combined AFM and Lateral Stretch Device Enables Microindentation Analyses of Living Cells at High Strains.Methods and protocols · 2019Article
- Mouse Keratinocytes Without Keratin Intermediate Filaments Demonstrate Substrate Stiffness Dependent Behaviors.Cellular and molecular bioengineering · 2018Article
Corrections and comments
- Erratum issuedErratum.2016
Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Keratin filaments constitute the major component of the epidermal cytoskeleton from heterodimers of type I and type II keratin subunits. Missense mutations in keratin 5 or keratin 14, highly expressed in the basal epidermis, cause the severe skin blistering disease epidermolysis bullosa simplex (EBS) in humans by rendering the keratin cytoskeleton sensitive to mechanical stress; yet, the mechanisms by which individual mutations cause cell fragility are incompletely understood. Here, we compared the K14p.Arg125Pro with the K5p.Glu477Asp mutation, both giving rise to severe generalized EBS, by stable expression in keratin-free keratinocytes. This revealed distinctly different effects on keratin cytoskeletal organization, in agreement with in vivo observations, thus validating the cell system. Although the K14p.Arg125Pro mutation led to impaired desmosomes, downregulation of desmosomal proteins, and weakened epithelial sheet integrity upon shear stress, the K5p.Glu477Asp mutation did not impair these functions, although causing EBS with squamous cell carcinoma in vivo. Atomic force microscopy demonstrated that K14 mutant cells were even less resistant against deformation compared with keratin-free keratinocytes. Thus, a keratin mutation causing EBS compromises cell stiffness to a greater extent than the lack of keratins. Finally, re-expression of K14 in K14 mutant cells did not rescue the above defects. Collectively, our findings have implications for EBS therapy approaches.
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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.