{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T12:48:29Z","timestamp":1791118109680,"version":"4.1.0"},"reference-count":28,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"5197","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[1995,1,27]]},"abstract":"<jats:p>\n                    Lamellar ichthyosis is a severe congenital skin disorder characterized by generalized large scales and variable redness. Affected individuals in three families exhibited drastically reduced keratinocyte transglutaminase (TGK) activity. In two of these families, expression of\n                    <jats:italic>TGK<\/jats:italic>\n                    transcripts was diminished or abnormal and no TGK protein was detected. Homozygous or compound heterozygous mutations of the\n                    <jats:italic>TGK<\/jats:italic>\n                    gene were identified in all families. These data suggest that defects in TGK cause lamellar ichthyosis and that intact cross-linkage of cornified cell envelopes is required for epidermal tissue homeostasis.\n                  <\/jats:p>","DOI":"10.1126\/science.7824952","type":"journal-article","created":{"date-parts":[[2006,10,27]],"date-time":"2006-10-27T14:19:42Z","timestamp":1161958782000},"page":"525-528","source":"Crossref","is-referenced-by-count":398,"title":["Mutations of Keratinocyte Transglutaminase in Lamellar Ichthyosis"],"prefix":"10.1126","volume":"267","author":[{"given":"Marcel","family":"Huber","sequence":"first","affiliation":[{"name":"Laboratory of Cutaneous Biology, Department of Dermatology, Centre Hospitalier Universitaire Vandois (CHUV), H\u00f4pital de Beaumont, CH- 1011 Lausanne, Switzerland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irmingard","family":"Rettler","sequence":"additional","affiliation":[{"name":"Laboratory of Cutaneous Biology, Department of Dermatology, Centre Hospitalier Universitaire Vandois (CHUV), H\u00f4pital de Beaumont, CH- 1011 Lausanne, Switzerland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Bernasconi","sequence":"additional","affiliation":[{"name":"Laboratory of Cutaneous Biology, Department of Dermatology, Centre Hospitalier Universitaire Vandois (CHUV), H\u00f4pital de Beaumont, CH- 1011 Lausanne, Switzerland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edgar","family":"Frenk","sequence":"additional","affiliation":[{"name":"Laboratory of Cutaneous Biology, Department of Dermatology, Centre Hospitalier Universitaire Vandois (CHUV), H\u00f4pital de Beaumont, CH- 1011 Lausanne, Switzerland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sjan P. 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