ArticleThe Journal of investigative dermatology2015
Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis.
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. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 19 citations in OpenAlex.
- Advancing human skin models by integrating skin microbes for next-generation research.Scientific reports · 2026Article
- Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis.The Journal of dermatology · 2024Article
- Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.Pediatric investigation · 2023Article
- Transcript levels of keratin 1/5/6/14/15/16/17 as potential prognostic indicators in melanoma patients.Scientific reports · 2021Article
- Estrogen Action in the Epithelial Cells of the Mouse Vagina Regulates Neutrophil Infiltration and Vaginal Tissue Integrity.Scientific reports · 2018Article
- Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.American journal of human genetics · 2017Article
- Epidermolytic Ichthyosis Sine Epidermolysis.The American Journal of dermatopathology · 2017Article
- In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing genodermatoses.Oncotarget · 2016Article
- Recent advances in understanding ichthyosis pathogenesis.F1000Research · 2016Review
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Epidermolytic ichthyosis (EI) due to KRT10 mutations is a rare, typically autosomal dominant, disorder characterized by generalized erythema and cutaneous blistering at birth followed by hyperkeratosis and less frequent blistering later in life. We identified two KRT10 mutations p.Q434del and p.R441P in subjects presenting with a mild EI phenotype. Both occur within the mutational "hot spot" of the keratin 10 (K10) 2B rod domain, adjacent to severe EI-associated mutations. p.Q434del and p.R441P formed collapsed K10 fibers rather than aggregates characteristic of severe EI KRT10 mutations such as p.R156C. Upon differentiation, keratinocytes from p.Q434del showed significantly lower apoptosis (P-value<0.01) compared with p.R156C as assessed by the TUNEL assay. Conversely, the mitotic index of the p.Q434del epidermis was significantly higher compared with that of p.R156C (P-value<0.01) as estimated by the Ki67 assay. Structural basis of EI phenotype variation was investigated by homology-based modeling of wild-type and mutant K1-K10 dimers. Both mild EI mutations were found to affect the surface-exposed residues of the K10 alpha helix coiled-coil and caused localized disorganization of the K1-K10 heterodimer. In contrast, adjacent severe EI mutations disrupt key intermolecular dimer interactions. Our findings provide structural insights into phenotypic variation in EI due to KRT10 mutations.
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