ArticleThe Journal of cell biology2000
Transgenic mice expressing a mutant form of loricrin reveal the molecular basis of the skin diseases, Vohwinkel syndrome and progressive symmetric erythrokeratoderma.
Article in The Journal of cell biology, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 73 citations in OpenAlex.
- Topical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Loricrin and Cytokeratin Disorganisation in Severe Forms of Periodontitis.International dental journal · 2023Article
- The Epidermal Transcriptome Analysis of a Novel c.639_642dupInternational journal of molecular sciences · 2023Article
- Loricrin at the Boundary between Inside and Outside.Biomolecules · 2022Review
- Loricrin and NRF2 Coordinate Cornification.JID innovations : skin science from molecules to population health · 2022Article
- The Epidermis: Redox Governor of Health and Diseases.Antioxidants (Basel, Switzerland) · 2021Review
- Loricrin: Past, Present, and Future.International journal of molecular sciences · 2020Review
- Inactivation of DNase1L2 and DNase2 in keratinocytes suppresses DNA degradation during epidermal cornification and results in constitutive parakeratosis.Scientific reports · 2017Article
- Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.The British journal of dermatology · 2015Article
- Suppressing AP1 factor signaling in the suprabasal epidermis produces a keratoderma phenotype.The Journal of investigative dermatology · 2015Article
- Epidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice.Journal of lipid research · 2011Article
- Activation of vascular endothelial growth factor receptor 2 in a cellular model of loricrin keratoderma.The Journal of biological chemistry · 2010Article
- Genomic resources for songbird research and their use in characterizing gene expression during brain development.Proceedings of the National Academy of Sciences of the United States of America · 2007Article
- Defective epidermal barrier in neonatal mice lacking the C-terminal region of connexin43.Molecular biology of the cell · 2004Article
- Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation.The Journal of cell biology · 2001Article
- Gene targeting of envoplakin, a cytoskeletal linker protein and precursor of the epidermal cornified envelope.Molecular and cellular biology · 2001Article
- The complexity and redundancy of epithelial barrier function.The Journal of cell biology · 2000Article
- Lessons from loricrin-deficient mice: compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope protein.The Journal of cell biology · 2000Article
- Analysis of TYR Gene Pathogenic Variants in a Chinese Mongolian Family with Progressive Symmetric Erythrokeratoderma.Indian dermatology online journalArticle
- Progressive symmetrical erythrokeratodermia -- case report.Anais brasileiros de dermatologiaArticle
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8 authors at 4 institutions in 2 countries.
Funding
Abstract
Mutations in the cornified cell envelope protein loricrin have been reported recently in some patients with Vohwinkel syndrome (VS) and progressive symmetric erythrokeratoderma (PSEK). To establish a causative relationship between loricrin mutations and these diseases, we have generated transgenic mice expressing a COOH-terminal truncated form of loricrin that is similar to the protein expressed in VS and PSEK patients. At birth, transgenic mice (ML.VS) exhibited erythrokeratoderma with an epidermal barrier dysfunction. 4 d after birth, high-expressing transgenic animals showed a generalized scaling of the skin, as well as a constricting band encircling the tail and, by day 7, a thickening of the footpads. Histologically, ML. VS transgenic mice also showed retention of nuclei in the stratum corneum, a characteristic feature of VS and PSEK. Immunofluorescence and immunoelectron microscopy showed the mutant loricrin protein in the nucleus and cytoplasm of epidermal keratinocytes, but did not detect the protein in the cornified cell envelope. Transfection experiments indicated that the COOH-terminal domain of the mutant loricrin contains a nuclear localization signal. To determine whether the ML.VS phenotype resulted from dominant-negative interference of the transgene with endogenous loricrin, we mated the ML.VS transgenics with loricrin knockout mice. A severe phenotype was observed in mice that lacked expression of wild-type loricrin. Since loricrin knockout mice are largely asymptomatic (Koch, P.K., P. A. de Viragh, E. Scharer, D. Bundman, M.A. Longley, J. Bickenbach, Y. Kawachi, Y. Suga, Z. Zhou, M. Huber, et al., J. Cell Biol. 151:389-400, this issue), this phenotype may be attributed to expression of the mutant form of loricrin. Thus, deposition of the mutant protein in the nucleus appears to interfere with late stages of epidermal differentiation, resulting in a VS-like phenotype.
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