{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T21:40:50Z","timestamp":1784238050897,"version":"3.55.0"},"reference-count":10,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,3,21]],"date-time":"2015-03-21T00:00:00Z","timestamp":1426896000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["H23-028"],"award-info":[{"award-number":["H23-028"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["26461668"],"award-info":[{"award-number":["26461668"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a case of a 12\u2010year\u2010old boy who was born as a collodion baby after which thick scales developed on his entire body surface. His younger brother showed a similar skin condition. Arcuate\u2010shaped, large, brownish scales covered his face with ectropion. His lower legs were also covered with larger thick, brownish, plate\u2010like scales, but other areas were covered with smaller scales. Next\u2010generation sequencing for exons and splice sites detected a stop\u2010gain <jats:italic>TGM1<\/jats:italic> mutation leading to p.R71* in transglutaminase 1 (TG1). Another mutation identified was a cryptic mutation in intron 3 that activated a pseudoexon, which was detected by RNA\u2010based analysis of hair bulbs. The deep intronic mutation caused another truncation mutation, p.N171Tfs<jats:sup>*<\/jats:sup>45, in TG1. An <jats:italic>in\u00a0situ<\/jats:italic> TG1 assay demonstrated that TG1 activity was totally lost in this case. Thus, we conclude that the severe phenotype of the patient developed due to those novel compound heterozygous null truncation mutations in <jats:italic>TGM1<\/jats:italic>.<\/jats:p>","DOI":"10.1111\/1346-8138.12846","type":"journal-article","created":{"date-parts":[[2015,3,24]],"date-time":"2015-03-24T17:32:26Z","timestamp":1427218346000},"page":"642-645","source":"Crossref","is-referenced-by-count":12,"title":["Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene"],"prefix":"10.1111","volume":"42","author":[{"given":"Yasushi","family":"Suga","sequence":"first","affiliation":[{"name":"Department of Dermatology Juntendo University Urayasu Hospital Urayasu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuya","family":"Tsuda","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hyogo College of Medicine Nishinomiya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makoto","family":"Nagai","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hyogo College of Medicine Nishinomiya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiko","family":"Sakaguchi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hyogo College of Medicine Nishinomiya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orie","family":"Jitsukawa","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hyogo College of Medicine Nishinomiya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaaki","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hyogo College of Medicine Nishinomiya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyotaka","family":"Hitomi","sequence":"additional","affiliation":[{"name":"Department of Basic Medical Sciences Graduate School of Pharmaceutical Sciences Nagoya University Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyofumi","family":"Yamanishi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hyogo College of Medicine Nishinomiya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,3,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.11.020"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1056"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003536"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2012.332"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.13473"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.48.34148"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1742-4658.2008.06692.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555\u20102062"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2008.08684.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.11.017"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.12846","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.12846","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T21:30:58Z","timestamp":1695504658000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.12846"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3,21]]},"references-count":10,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["10.1111\/1346-8138.12846"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.12846","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,3,21]]}}}