{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T10:48:43Z","timestamp":1764240523730,"version":"build-2065373602"},"reference-count":27,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"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":[[2022,4]]},"DOI":"10.1016\/j.jdermsci.2022.03.002","type":"journal-article","created":{"date-parts":[[2022,3,14]],"date-time":"2022-03-14T17:00:48Z","timestamp":1647277248000},"page":"37-44","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["The c.323\u00a0G>C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree"],"prefix":"10.1016","volume":"106","author":[{"given":"Xiaojie","family":"Gao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hua","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Songhua","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiabin","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiao","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Long","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongmei","family":"Liao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shengbiao","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jingyan","family":"Yi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaokun","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mingyi","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.jdermsci.2022.03.002_bib1","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."},{"issue":"1","key":"10.1016\/j.jdermsci.2022.03.002_bib2","doi-asserted-by":"crossref","first-page":"64","DOI":"10.4103\/0973-029X.157204","article-title":"Loricrin - an overview","volume":"19","author":"Nithya","year":"2015","journal-title":"J. Oral. Maxillofac. Pathol.: JOMFP"},{"issue":"3","key":"10.1016\/j.jdermsci.2022.03.002_bib3","doi-asserted-by":"crossref","first-page":"265","DOI":"10.5021\/ad.2018.30.3.265","article-title":"Skin barrier and calcium","volume":"30","author":"Lee","year":"2018","journal-title":"Ann. Dermatol."},{"issue":"1","key":"10.1016\/j.jdermsci.2022.03.002_bib4","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/ng0596-70","article-title":"A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel\u2019s syndrome","volume":"13","author":"Maestrini","year":"1996","journal-title":"Nat. Genet"},{"issue":"11","key":"10.1016\/j.jdermsci.2022.03.002_bib5","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1111\/j.1346-8138.2010.00932.x","article-title":"Expression of wild-type, but not mutant, loricrin causes programmed cell death in HaCaT keratinocytes","volume":"37","author":"Yoneda","year":"2010","journal-title":"J. Dermatol."},{"issue":"4","key":"10.1016\/j.jdermsci.2022.03.002_bib6","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1038\/nprot.2010.5","article-title":"I-TASSER: a unified platform for automated protein structure and function prediction","volume":"5","author":"Roy","year":"2010","journal-title":"Nat. Protoc."},{"issue":"1","key":"10.1016\/j.jdermsci.2022.03.002_bib7","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1038\/nmeth.3213","article-title":"The I-TASSER Suite: protein structure and function prediction","volume":"12","author":"Yang","year":"2015","journal-title":"Nat. Methods"},{"key":"10.1016\/j.jdermsci.2022.03.002_bib8","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/1471-2105-9-40","article-title":"I-TASSER server for protein 3D structure prediction","volume":"9","author":"Zhang","year":"2008","journal-title":"BMC Bioinforma."},{"issue":"1","key":"10.1016\/j.jdermsci.2022.03.002_bib9","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/0092-8674(80)90406-7","article-title":"Calcium regulation of growth and differentiation of mouse epidermal cells in culture","volume":"19","author":"Hennings","year":"1980","journal-title":"Cell"},{"issue":"2","key":"10.1016\/j.jdermsci.2022.03.002_bib10","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/jcp.1041340208","article-title":"Biochemical and morphological characterization of growth and differentiation of normal human neonatal keratinocytes in a serum-free medium","volume":"134","author":"Pillai","year":"1988","journal-title":"J. Cell. Physiol."},{"issue":"4","key":"10.1016\/j.jdermsci.2022.03.002_bib11","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1111\/1523-1747.ep12337534","article-title":"Loricrin mutation in Vohwinkel\u2019s keratoderma is unique to the variant with ichthyosis","volume":"109","author":"Korge","year":"1997","journal-title":"J. Invest Dermatol."},{"issue":"3","key":"10.1016\/j.jdermsci.2022.03.002_bib12","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1111\/j.1365-2133.2008.08657.x","article-title":"A novel c.545-546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma","volume":"159","author":"Song","year":"2008","journal-title":"Br. J. Dermatol."},{"issue":"1","key":"10.1016\/j.jdermsci.2022.03.002_bib13","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/S0923-1811(02)00143-3","article-title":"Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin","volume":"31","author":"Ishida-Yamamoto","year":"2003","journal-title":"J. Dermatol. Sci."},{"issue":"6","key":"10.1016\/j.jdermsci.2022.03.002_bib14","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1046\/j.1523-1747.2000.00163.x","article-title":"Mutant loricrin is not crosslinked into the cornified cell envelope but is translocated into the nucleus in loricrin keratoderma","volume":"115","author":"Ishida-Yamamoto","year":"2000","journal-title":"J. Invest Dermatol."},{"issue":"12","key":"10.1016\/j.jdermsci.2022.03.002_bib15","first-page":"1227","article-title":"Loricrin downregulation and epithelial-related disorders: a systematic review","volume":"17","author":"Catunda","year":"2019","journal-title":"J. Dtsch Dermatol. Ges."},{"issue":"6627","key":"10.1016\/j.jdermsci.2022.03.002_bib16","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1038\/386779a0","article-title":"Nucleocytoplasmic transport: signals, mechanisms and regulation","volume":"386","author":"Nigg","year":"1997","journal-title":"Nature"},{"issue":"9","key":"10.1016\/j.jdermsci.2022.03.002_bib17","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1016\/j.chembiol.2008.07.019","article-title":"Design of peptide inhibitors for the importin alpha\/beta nuclear import pathway by activity-based profiling","volume":"15","author":"Kosugi","year":"2008","journal-title":"Chem. Biol."},{"issue":"1","key":"10.1016\/j.jdermsci.2022.03.002_bib18","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1074\/jbc.M807017200","article-title":"Six classes of nuclear localization signals specific to different binding grooves of importin alpha","volume":"284","author":"Kosugi","year":"2009","journal-title":"J. Biol. Chem."},{"issue":"25","key":"10.1016\/j.jdermsci.2022.03.002_bib19","doi-asserted-by":"crossref","first-page":"10171","DOI":"10.1073\/pnas.0900604106","article-title":"Systematic identification of cell cycle-dependent yeast nucleocytoplasmic shuttling proteins by prediction of composite motifs","volume":"106","author":"Kosugi","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"issue":"6","key":"10.1016\/j.jdermsci.2022.03.002_bib20","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1111\/epi.12645","article-title":"Towards the identification of a genetic basis for Landau-Kleffner syndrome","volume":"55","author":"Conroy","year":"2014","journal-title":"Epilepsia"},{"issue":"2","key":"10.1016\/j.jdermsci.2022.03.002_bib21","first-page":"203","article-title":"[Mutation analysis for GJB2 and LOR genes in two patients with Vohwinkel syndrome]","volume":"30","author":"Liu","year":"2013","journal-title":"Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chin. J. Med. Genet."},{"issue":"3","key":"10.1016\/j.jdermsci.2022.03.002_bib22","doi-asserted-by":"crossref","first-page":"e142","DOI":"10.1111\/jdv.13882","article-title":"Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis","volume":"31","author":"Khalil","year":"2017","journal-title":"J. Eur. Acad. Dermatol. Venereol.: JEADV"},{"issue":"4","key":"10.1016\/j.jdermsci.2022.03.002_bib23","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1046\/j.1523-1747.1998.00343.x","article-title":"A novel insertional mutation in loricrin in Vohwinkel\u2019s Keratoderma","volume":"111","author":"Armstrong","year":"1998","journal-title":"J. Invest Dermatol."},{"issue":"4","key":"10.1016\/j.jdermsci.2022.03.002_bib24","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1111\/bjd.13414","article-title":"Two novel mutations in the LOR gene in three families with loricrin keratoderma","volume":"172","author":"Hotz","year":"2015","journal-title":"Br. J. Dermatol."},{"issue":"3","key":"10.1016\/j.jdermsci.2022.03.002_bib25","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1086\/515518","article-title":"The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope","volume":"61","author":"Ishida-Yamamoto","year":"1997","journal-title":"Am. J. Hum. Genet"},{"issue":"5","key":"10.1016\/j.jdermsci.2022.03.002_bib26","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1111\/bjd.13895","article-title":"Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis","volume":"173","author":"Pohler","year":"2015","journal-title":"Br. J. Dermatol."},{"issue":"1","key":"10.1016\/j.jdermsci.2022.03.002_bib27","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1111\/bjd.13361","article-title":"A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma","volume":"172","author":"Kinsler","year":"2015","journal-title":"Br. J. Dermatol."}],"container-title":["Journal of Dermatological Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181122000627?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181122000627?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T04:52:03Z","timestamp":1760331123000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0923181122000627"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4]]},"references-count":27,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["S0923181122000627"],"URL":"https:\/\/doi.org\/10.1016\/j.jdermsci.2022.03.002","relation":{},"ISSN":["0923-1811"],"issn-type":[{"type":"print","value":"0923-1811"}],"subject":[],"published":{"date-parts":[[2022,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The c.323\u00a0G>C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree","name":"articletitle","label":"Article Title"},{"value":"Journal of Dermatological Science","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jdermsci.2022.03.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Japanese Society for Investigative Dermatology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}