{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T16:31:04Z","timestamp":1775233864090,"version":"3.50.1"},"reference-count":24,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,9,1]],"date-time":"2017-09-01T00:00:00Z","timestamp":1504224000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2017,9]]},"DOI":"10.1016\/j.gene.2017.07.030","type":"journal-article","created":{"date-parts":[[2017,7,12]],"date-time":"2017-07-12T20:00:57Z","timestamp":1499889657000},"page":"103-108","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"special_numbering":"C","title":["Steroid sulfatase and filaggrin mutations in a boy with severe ichthyosis, elevated serum IgE level and moyamoya syndrome"],"prefix":"10.1016","volume":"628","author":[{"given":"Qian","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuo","family":"Si","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaping","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuo","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xingju","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaofeng","family":"Deng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yonggang","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peicong","family":"Ge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jizong","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2017.07.030_bb0005","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1186\/s12883-016-0578-3","article-title":"CNS vasculitis and stroke as a complication of DOCK8 deficiency: a case report","volume":"16","author":"AlKhater","year":"2016","journal-title":"BMC Neurol."},{"key":"10.1016\/j.gene.2017.07.030_bb0010","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1016\/j.gene.2013.06.018","article-title":"Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation","volume":"527","author":"Ben Khelifa","year":"2013","journal-title":"Gene"},{"key":"10.1016\/j.gene.2017.07.030_bb0015","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0164417","article-title":"Behavioural and psychiatric phenotypes in men and boys with X-linked Ichthyosis: evidence from a worldwide online survey","volume":"11","author":"Chatterjee","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.gene.2017.07.030_bb0020","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1046\/j.1523-1747.2003.22258.x","article-title":"Basis for abnormal desquamation and permeability barrier dysfunction in RXLI","volume":"122","author":"Elias","year":"2004","journal-title":"J. Investig. Dermatol."},{"key":"10.1016\/j.gene.2017.07.030_bb0025","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1194\/jlr.R800002-JLR200","article-title":"Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism","volume":"49","author":"Elias","year":"2008","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.gene.2017.07.030_bb0030","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1016\/j.jaad.2009.04.028","article-title":"X-linked ichthyosis: an oculocutaneous genodermatosis","volume":"62","author":"Fernandes","year":"2010","journal-title":"J. Am. Acad. Dermatol."},{"key":"10.1016\/j.gene.2017.07.030_bb0035","doi-asserted-by":"crossref","first-page":"e1121","DOI":"10.1542\/peds.2006-2649","article-title":"Brain abnormalities in patients with hyperimmunoglobulin E syndrome","volume":"119","author":"Freeman","year":"2007","journal-title":"Pediatrics"},{"key":"10.1016\/j.gene.2017.07.030_bb0040","first-page":"49","article-title":"Moyamoya disease and syndromes: from genetics to clinical management","volume":"8","author":"Guey","year":"2015","journal-title":"Appl. Clin. Genet."},{"key":"10.1016\/j.gene.2017.07.030_bb0045","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.jocn.2013.03.028","article-title":"Cerebral arteriostenosis associated with elevated serum-immunoglobulin E level in young adults without risk factors for ischemic stroke: a possible manifestation of cerebral vasculitis?","volume":"21","author":"Guo","year":"2014","journal-title":"J. Clin. Neurosci."},{"key":"10.1016\/j.gene.2017.07.030_bb0050","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1111\/j.1365-2133.2009.09112.x","article-title":"Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations","volume":"161","author":"Hsu","year":"2009","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.gene.2017.07.030_bb0055","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1007\/s00439-012-1155-5","article-title":"Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population","volume":"131","author":"Hu","year":"2012","journal-title":"Hum. Genet."},{"key":"10.1016\/j.gene.2017.07.030_bb0060","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1136\/jmg.2008.057729","article-title":"X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits","volume":"45","author":"Kent","year":"2008","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2017.07.030_bb0065","doi-asserted-by":"crossref","first-page":"2795","DOI":"10.1038\/sj.jid.5700971","article-title":"Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis","volume":"127","author":"Liao","year":"2007","journal-title":"J. Investig. Dermatol."},{"key":"10.1016\/j.gene.2017.07.030_bb0070","doi-asserted-by":"crossref","first-page":"615","DOI":"10.3390\/genes5030615","article-title":"Discovery in genetic skin disease: the impact of high throughput genetic technologies","volume":"5","author":"Maruthappu","year":"2014","journal-title":"Genes (Basel)"},{"issue":"1","key":"10.1016\/j.gene.2017.07.030_bb0075","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000458469","article-title":"Xp22.31 microdeletion due to microhomology-mediated break-induced replication in a boy with contiguous gene deletion syndrome","volume":"151","author":"Nagai","year":"2017","journal-title":"Cytogenet. Genome Res."},{"key":"10.1016\/j.gene.2017.07.030_bb0080","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1111\/j.1365-2133.2009.09406.x","article-title":"FLG mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema","volume":"161","author":"Nemoto-Hasebe","year":"2009","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.gene.2017.07.030_bb0085","doi-asserted-by":"crossref","first-page":"1302","DOI":"10.1038\/jid.2008.372","article-title":"Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis","volume":"129","author":"Nomura","year":"2009","journal-title":"J. Investig. Dermatol."},{"key":"10.1016\/j.gene.2017.07.030_bb0090","doi-asserted-by":"crossref","first-page":"395","DOI":"10.3349\/ymj.2017.58.2.395","article-title":"Filaggrin mutation in Korean patients with atopic dermatitis","volume":"58","author":"On","year":"2017","journal-title":"Yonsei Med. J."},{"key":"10.1016\/j.gene.2017.07.030_bb0095","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1038\/ng1767","article-title":"Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis","volume":"38","author":"Palmer","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2017.07.030_bb0100","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.jdermsci.2011.07.006","article-title":"Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations","volume":"64","author":"Ramesh","year":"2011","journal-title":"J. Dermatol. Sci."},{"key":"10.1016\/j.gene.2017.07.030_bb0105","doi-asserted-by":"crossref","first-page":"1770","DOI":"10.1038\/sj.jid.5700459","article-title":"Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis","volume":"126","author":"Sandilands","year":"2006","journal-title":"J. Investig. Dermatol."},{"key":"10.1016\/j.gene.2017.07.030_bb0110","doi-asserted-by":"crossref","first-page":"1285","DOI":"10.1242\/jcs.033969","article-title":"Filaggrin in the frontline: role in skin barrier function and disease","volume":"122","author":"Sandilands","year":"2009","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.gene.2017.07.030_bb0115","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1056\/NEJMra0804622","article-title":"Moyamoya disease and moyamoya syndrome","volume":"360","author":"Scott","year":"2009","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.gene.2017.07.030_bb0120","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.3171\/2016.2.JNS152173","article-title":"RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance","volume":"126","author":"Zhang","year":"2017","journal-title":"J. Neurosurg."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111917305425?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111917305425?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,8,30]],"date-time":"2018-08-30T07:51:43Z","timestamp":1535615503000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111917305425"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9]]},"references-count":24,"alternative-id":["S0378111917305425"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2017.07.030","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2017,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Steroid sulfatase and filaggrin mutations in a boy with severe ichthyosis, elevated serum IgE level and moyamoya syndrome","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2017.07.030","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}