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Deficient cross-linking of the cell envelope in some patients with the autosomal recessive skin disorder lamellar ichthyosis (LI) and several mutations of the TGase 1 gene that have been identified in families with LI suggest the importance of this gene in production of the cell envelope. In this study, we generated mice lacking the TGase 1 gene, and we report that they have erythrodermic skin with abnormal keratinization. In their stratum corneum, degradation of nuclei and keratohyalin F-granules was incomplete and cell envelope assembly was defective. The skin barrier function of TGase 1-null mice was markedly impaired, and these mice died within 4\u20135 h after birth. These results clearly demonstrate that the TGase 1 gene is essential to the development and maturation of the stratum corneum and to adaptation to the environment after birth. Thus, these TGase 1 knockout mice may be a useful model for severe cases of LI.<\/jats:p>","DOI":"10.1073\/pnas.95.3.1044","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:31:44Z","timestamp":1027679504000},"page":"1044-1049","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":262,"title":["Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte\u2009transglutaminase)"],"prefix":"10.1073","volume":"95","author":[{"given":"Masato","family":"Matsuki","sequence":"first","affiliation":[{"name":"Department of Dermatology and Department of Dynamic Pathology, Research Institute for Neurological Diseases and Geriatrics, Kyoto Prefectural University of Medicine, Kyoto 602, Japan; Department of Drug Delivery Research, Graduate School of Pharmaceutical Science, Kyoto University, Kyoto 606-01, Japan; Department of Dermatology, Asahikawa Medical 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