ArticleThe Journal of clinical investigation1994
Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.
Article in The Journal of clinical investigation, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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
17 citing papers in PubMed, 96 citations in OpenAlex.
- Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis.The Journal of dermatology · 2024Article
- Mutations in KRT10 in epidermolytic acanthoma.Journal of cutaneous pathology · 2020Article
- Epidermolytic hyperkeratosis: clinical update.Clinical, cosmetic and investigational dermatology · 2019Review
- Article
- The X-Ray Crystal Structure of the Keratin 1-Keratin 10 Helix 2B Heterodimer Reveals Molecular Surface Properties and Biochemical Insights into Human Skin Disease.The Journal of investigative dermatology · 2017Article
- Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis.The Journal of investigative dermatology · 2015Article
- Visual detection of gene mutations based on isothermal strand-displacement polymerase reaction and lateral flow strip.Biosensors & bioelectronics · 2012Article
- Keratin gene mutations in disorders of human skin and its appendages.Archives of biochemistry and biophysics · 2011Review
- The molecular basis of human keratin disorders.Human genetics · 2009Review
- Identifying the role of specific motifs in the lens fiber cell specific intermediate filament phakosin.Investigative ophthalmology & visual science · 2007Article
- Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders.Advances in dermatology · 2007Review
- Characterization of structural changes in vimentin bearing an epidermolysis bullosa simplex-like mutation using site-directed spin labeling and electron paramagnetic resonance.The Journal of biological chemistry · 2005Article
- A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis.The Japanese journal of human genetics · 1997Article
- Keith R. Porter Lecture, 1996. Of mice and men: genetic disorders of the cytoskeleton.Molecular biology of the cell · 1997Review
- A transgenic mouse model with an inducible skin blistering disease phenotype.Proceedings of the National Academy of Sciences of the United States of America · 1996Article
- The molecular basis for inherited bullous diseases.Journal of molecular medicine (Berlin, Germany) · 1996Review
- Intermediate filaments and disease: mutations that cripple cell strength.The Journal of cell biology · 1994Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Epidermolytic hyperkeratosis (EH) is a skin disease caused by mutations in the genes encoding K1 and K10, the differentiation-specific keratins of epidermis. To explore the heterogeneity of mutations and to assess whether a correlation exists between disease severity and the extent to which a mutation interferes with keratin network formation, we determined the genetic bases of four severe incidences of EH and one unusually mild case. Two severe cases have the same mutation, K10-R156:C, at a conserved arginine that we previously showed was mutated to a histidine in two unrelated EH families. An additional severe case has a mutation six residues away, still within the amino end of the alpha-helical rod domain of K10. The other severe case has a mutation in the conserved carboxy end of the K1 rod. In contrast, affected members of the atypically mild family have a mutation just proximal to the conserved carboxy end of the K10 rod. By genetic engineering and gene transfection, we demonstrate that each mutation is functionally responsible for the keratin filament aberrations that are typical of keratinocytes cultured from these patients. Moreover, we show that the mild EH mutation less severely affects filament network formation. Taken together, our studies strengthen the link between filament perturbations, cell fragility, and degeneration.
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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.