{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T03:28:01Z","timestamp":1789874881986,"version":"4.0.1"},"reference-count":35,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2012,3,1]],"date-time":"2012-03-01T00:00:00Z","timestamp":1330560000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,3,1]],"date-time":"2012-03-01T00:00:00Z","timestamp":1330560000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jdsjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Dermatological Science"],"published-print":{"date-parts":[[2012,3]]},"DOI":"10.1016\/j.jdermsci.2011.12.011","type":"journal-article","created":{"date-parts":[[2011,12,24]],"date-time":"2011-12-24T03:51:42Z","timestamp":1324698702000},"page":"196-206","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"title":["Knocking-in the R142C mutation in transglutaminase 1 disrupts the stratum corneum barrier and postnatal survival of mice"],"prefix":"10.1016","volume":"65","author":[{"given":"Noboru","family":"Nakagawa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaaki","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasutomo","family":"Imai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiko","family":"Sakaguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takami","family":"Takizawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noboru","family":"Ohta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoto","family":"Yagi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichiro","family":"Hatta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyotaka","family":"Hitomi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshihiro","family":"Takizawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junji","family":"Takeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuya","family":"Tsuda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masato","family":"Matsuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyofumi","family":"Yamanishi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jdermsci.2011.12.011_bib0005","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1152\/physrev.00044.2008","article-title":"Transglutaminases and disease: lessons from genetically engineered mouse models and inherited disorders","volume":"89","author":"Iismaa","year":"2009","journal-title":"Physiol Rev"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0010","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1038\/nrm1014","article-title":"Transglutaminases: crosslinking enzymes with pleiotropic functions","volume":"4","author":"Lorand","year":"2003","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0015","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1111\/j.1742-4658.2004.04476.x","article-title":"Mammalian transglutaminases. Identification of substrates as a key to physiological function and physiopathological relevance","volume":"272","author":"Esposito","year":"2005","journal-title":"FEBS J"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0020","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1126\/science.7824952","article-title":"Mutations of keratinocyte transglutaminase in lamellar ichthyosis","volume":"267","author":"Huber","year":"1995","journal-title":"Science"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0025","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1038\/ng0395-279","article-title":"Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis","volume":"9","author":"Russell","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0030","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.jaad.2009.11.020","article-title":"Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009","volume":"63","author":"Oji","year":"2010","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0035","doi-asserted-by":"crossref","first-page":"2223","DOI":"10.1093\/hmg\/6.13.2223","article-title":"Activation of the human transglutaminase 1 promoter in transgenic mice: terminal differentiation-specific expression of the TGM1-lacZ transgene in keratinized stratified squamous epithelia","volume":"6","author":"Yamada","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0040","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1038\/nrm1619","article-title":"The cornified envelope: a model of cell death in the skin","volume":"6","author":"Candi","year":"2005","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0045","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1073\/pnas.95.3.1044","article-title":"Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase)","volume":"95","author":"Matsuki","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0050","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1073\/pnas.95.2.687","article-title":"Inability of keratinocytes lacking their specific transglutaminase to form cross-linked envelopes: absence of envelopes as a simple diagnostic test for lamellar ichthyosis","volume":"95","author":"Jeon","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0055","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1046\/j.1523-1747.2000.00846.x","article-title":"Omega-hydroxyceramides are required for corneocyte lipid envelope (CLE) formation and normal epidermal permeability barrier function","volume":"114","author":"Behne","year":"2000","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0060","doi-asserted-by":"crossref","first-page":"8402","DOI":"10.1073\/pnas.96.15.8402","article-title":"A novel function for transglutaminase 1: attachment of long-chain omega-hydroxyceramides to involucrin by ester bond formation","volume":"96","author":"Nemes","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0065","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1172\/JCI0213563","article-title":"Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1","volume":"109","author":"Kuramoto","year":"2002","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0070","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1038\/sj.ejhg.5200353","article-title":"Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis","volume":"7","author":"Laiho","year":"1999","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0075","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1086\/301818","article-title":"Genotype\/phenotype correlation in autosomal recessive lamellar ichthyosis","volume":"62","author":"Hennies","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0080","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1006\/bbrc.1997.7111","article-title":"A transgenic mouse line that retains Cre recombinase activity in mature oocytes irrespective of the cre transgene transmission","volume":"237","author":"Sakai","year":"1997","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0085","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1016\/0076-6879(93)25056-8","article-title":"Manipulation of the transgene by site-specific recombination: use of the cre recombinase","volume":"225","author":"Sauer","year":"1993","journal-title":"Methods Enzymol"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0090","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1006\/abio.1993.1459","article-title":"A novel negative selection for homologous recombinants using diphtheria toxin A fragment gene","volume":"214","author":"Yagi","year":"1993","journal-title":"Anal Biochem"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0095","doi-asserted-by":"crossref","first-page":"4582","DOI":"10.1073\/pnas.90.10.4582","article-title":"Simple and efficient production of embryonic stem cell-embryo chimeras by coculture","volume":"90","author":"Wood","year":"1993","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0100","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.ab.2009.03.029","article-title":"Development of an isoenzyme-specific colorimetric assay for tissue transglutaminase 2 cross-linking activity","volume":"389","author":"Perez Alea","year":"2009","journal-title":"Anal Biochem"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0105","doi-asserted-by":"crossref","first-page":"1875","DOI":"10.1016\/S0002-9440(10)64826-2","article-title":"Facilitated wound healing by activation of the Transglutaminase 1 gene","volume":"157","author":"Inada","year":"2000","journal-title":"Am J Pathol"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0110","doi-asserted-by":"crossref","first-page":"34148","DOI":"10.1074\/jbc.274.48.34148","article-title":"Transglutaminase type 1 and its cross-linking activity are concentrated at adherens junctions in simple epithelial cells","volume":"274","author":"Hiiragi","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0115","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1093\/jmicro\/dfl011","article-title":"Ultrahigh-resolution immunofluorescence microscopy using ultrathin cryosections: subcellular distribution of caveolin-1alpha and CD31 in human placental endothelial cells","volume":"55","author":"Mori","year":"2006","journal-title":"J Electron Microsc (Tokyo)"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0120","first-page":"351","article-title":"Correlative microscopy of ultrathin cryosections in placental research","volume":"121","author":"Takizawa","year":"2006","journal-title":"Methods Mol Med"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0125","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1111\/1523-1747.ep12276794","article-title":"Molecular models of the intercellular lipid lamellae in mammalian stratum corneum","volume":"92","author":"Swartzendruber","year":"1989","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0130","doi-asserted-by":"crossref","first-page":"1541","DOI":"10.1242\/dev.125.8.1541","article-title":"Patterned acquisition of skin barrier function during development","volume":"125","author":"Hardman","year":"1998","journal-title":"Development"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0135","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1107\/S002188980403403X","article-title":"Structural analysis of cell membrane complex of a hair fibre by micro-beam X-ray diffraction","volume":"38","author":"Ohta","year":"2005","journal-title":"J Appl Crystallogr"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0140","doi-asserted-by":"crossref","first-page":"5667","DOI":"10.1111\/j.1742-4658.2008.06692.x","article-title":"Identification of preferred substrate sequences for transglutaminase 1\u2014development of a novel peptide that can efficiently detect cross-linking enzyme activity in the skin","volume":"275","author":"Sugimura","year":"2008","journal-title":"FEBS J"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0145","doi-asserted-by":"crossref","first-page":"26242","DOI":"10.1074\/jbc.271.42.26242","article-title":"The transglutaminase 1 enzyme is variably acylated by myristate and palmitate during differentiation in epidermal keratinocytes","volume":"271","author":"Steinert","year":"1996","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0150","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/0005-2760(94)90252-6","article-title":"The lipid and protein structure of mouse stratum corneum: a wide and small angle diffraction study","volume":"1212","author":"Bouwstra","year":"1994","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0155","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0009-3084(02)00126-3","article-title":"Swelling of intercellular lipid lamellar structure with short repeat distance in hairless mouse stratum corneum as studied by X-ray diffraction","volume":"123","author":"Ohta","year":"2003","journal-title":"Chem Phys Lipids"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0160","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1086\/515498","article-title":"Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population","volume":"61","author":"Laiho","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0165","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1007\/s00894-006-0144-9","article-title":"A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis","volume":"13","author":"Boeshans","year":"2007","journal-title":"J Mol Model"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0170","doi-asserted-by":"crossref","first-page":"13693","DOI":"10.1074\/jbc.273.22.13693","article-title":"Transglutaminase 1 mutations in lamellar ichthyosis. Loss of activity due to failure of activation by proteolytic processing","volume":"273","author":"Candi","year":"1998","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jdermsci.2011.12.011_bib0175","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/S0005-2736(03)00238-4","article-title":"Molecular models of the intercellular lipid lamellae from epidermal stratum corneum","volume":"1616","author":"Hill","year":"2003","journal-title":"Biochim Biophys Acta"}],"container-title":["Journal of Dermatological Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181111003616?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181111003616?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T04:47:27Z","timestamp":1760330847000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0923181111003616"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,3]]},"references-count":35,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,3]]}},"alternative-id":["S0923181111003616"],"URL":"https:\/\/doi.org\/10.1016\/j.jdermsci.2011.12.011","relation":{},"ISSN":["0923-1811"],"issn-type":[{"value":"0923-1811","type":"print"}],"subject":[],"published":{"date-parts":[[2012,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Knocking-in the R142C mutation in transglutaminase 1 disrupts the stratum corneum barrier and postnatal survival of mice","name":"articletitle","label":"Article Title"},{"value":"Journal of Dermatological Science","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jdermsci.2011.12.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2011 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}