ArticleThe Journal of clinical investigation2002
Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1.
Article in The Journal of clinical investigation, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed, 99 citations in OpenAlex.
- A cellular disease model toward gene therapy ofMolecular therapy. Methods & clinical development · 2024Article
- The Evolution of Transglutaminases Underlies the Origin and Loss of Cornified Skin Appendages in Vertebrates.Molecular biology and evolution · 2024Article
- Cornification of keratinocytes is associated with differential changes in the catalytic activity and the immunoreactivity of transglutaminase-1.Scientific reports · 2023Article
- Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis.International journal of molecular sciences · 2022Review
- Article
- Novel Homozygous Mutations in the GenesGenes · 2021Article
- Transglutaminase 2 as a Marker for Inflammation and Therapeutic Target in Sepsis.International journal of molecular sciences · 2021Review
- "Structural imprinting" of the cutaneous immune effector function.Tissue barriers · 2021Review
- Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis.Acta dermato-venereologica · 2020Article
- Review
- The KEAP1/NRF2 Signaling Pathway in Keratinization.Antioxidants (Basel, Switzerland) · 2020Review
- Loricrin: Past, Present, and Future.International journal of molecular sciences · 2020Review
- Sjogren-Larsson Syndrome: Mechanisms and Management.The application of clinical genetics · 2020Review
- Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?Experimental dermatology · 2019Article
- Article
- Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.American journal of clinical dermatology · 2018Review
- Skin Barrier Development Depends on CGI-58 Protein Expression during Late-Stage Keratinocyte Differentiation.The Journal of investigative dermatology · 2017Article
- The role of barrier genes in epidermal malignancy.Oncogene · 2016Review
- Pluripotency factor Nanog is tumorigenic by deregulating DNA damage response in somatic cells.Oncogene · 2016Article
- Activation of Molecular Signatures for Antimicrobial and Innate Defense Responses in Skin with Transglutaminase 1 Deficiency.PloS one · 2016Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Transglutaminase 1 (TGase 1) is one of the genes implicated in autosomal recessive congenital ichthyosis. Skin from TGase 1(-/-) mice, which die as neonates, lacks the normal insoluble cornified envelope and has impaired barrier function. Characterization of in situ dye permeability and transepidermal water loss revealed defects in the development of the skin permeability barrier in TGase 1(-/-) mice. In the stratum corneum of the skin, tongue, and forestomach, intercellular lipid lamellae were disorganized, and the corneocyte lipid envelope and cornified envelope were lacking. Neonatal TGase 1(-/-) mouse skin was taut and erythrodermic, but transplanted TGase 1(-/-) mouse skin resembled that seen in severe ichthyosis, with epidermal hyperplasia and marked hyperkeratosis. Abnormalities in those barrier structures remained, but transepidermal water loss was improved to control levels in the ichthyosiform skin. From these results, we conclude that TGase 1 is essential to the assembly and organization of the barrier structures in stratified squamous epithelia. We suggest that the ichthyosiform skin phenotype in TGase 1 deficiency develops the massive hyperkeratosis as a physical compensation for the defective cutaneous permeability barrier required for survival in a terrestrial environment.
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