{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T20:08:06Z","timestamp":1773259686719,"version":"3.50.1"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":197,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clin Exp Dermatol"],"published-print":{"date-parts":[[2015,7]]},"DOI":"10.1111\/ced.12587","type":"journal-article","created":{"date-parts":[[2015,2,16]],"date-time":"2015-02-16T07:31:42Z","timestamp":1424071902000},"page":"529-532","source":"Crossref","is-referenced-by-count":16,"title":["Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in<i>MBTPS2<\/i>"],"prefix":"10.1093","volume":"40","author":[{"given":"K.","family":"Fong","sequence":"first","affiliation":[{"name":"St John's Institute of Dermatology; King's College London (Guy's Campus); London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Takeichi","sequence":"additional","affiliation":[{"name":"St John's Institute of Dermatology; King's College London (Guy's Campus); London UK"},{"name":"Department of Dermatology; Nagoya University Graduate School of Medicine; Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Liu","sequence":"additional","affiliation":[{"name":"Viapath; St Thomas' Hospital; London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Pramanik","sequence":"additional","affiliation":[{"name":"St John's Institute of Dermatology; King's College London (Guy's Campus); London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Lee","sequence":"additional","affiliation":[{"name":"St John's Institute of Dermatology; King's College London (Guy's Campus); London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Akiyama","sequence":"additional","affiliation":[{"name":"Department of Dermatology; Nagoya University Graduate School of Medicine; Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. A.","family":"McGrath","sequence":"additional","affiliation":[{"name":"St John's Institute of Dermatology; King's College London (Guy's Campus); London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2015,2,16]]},"reference":[{"key":"10.1111\/ced.12587-BIB0001|ced12587-cit-0001","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/j.ajhg.2009.03.014","article-title":"IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response","volume":"84","author":"Oeffner","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1111\/ced.12587-BIB0002|ced12587-cit-0002","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1016\/S0092-8674(00)81304-5","article-title":"Sterol-regulated release of SREBP-2 from cell membranes requires two sequential cleavages, one within a transmembrane segment","volume":"85","author":"Sakai","year":"1996","journal-title":"Cell"},{"key":"10.1111\/ced.12587-BIB0003|ced12587-cit-0003","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1002\/humu.21335","article-title":"Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2","volume":"31","author":"Aten","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1111\/ced.12587-BIB0004|ced12587-cit-0004","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1038\/jid.2012.289","article-title":"A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome","volume":"133","author":"Haghighi","year":"2013","journal-title":"J Invest Dermatol"},{"key":"10.1111\/ced.12587-BIB0005|ced12587-cit-0005","first-page":"587","article-title":"Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2","volume":"34","author":"Bornholdt","year":"2013","journal-title":"Hum Mutat"},{"key":"10.1111\/ced.12587-BIB0006|ced12587-cit-0006","doi-asserted-by":"crossref","first-page":"21973","DOI":"10.1074\/jbc.274.31.21973","article-title":"Membrane topology of S2P, a protein required for intramembranous cleavage of sterol regulatory element-binding proteins","volume":"274","author":"Zelenski","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1111\/ced.12587-BIB0007|ced12587-cit-0007","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1111\/j.1365-2133.2010.09890.x","article-title":"A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family","volume":"163","author":"Ding","year":"2010","journal-title":"Br J Dermatol"},{"key":"10.1111\/ced.12587-BIB0008|ced12587-cit-0008","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1111\/j.1365-2230.2011.04288.x","article-title":"MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans","volume":"37","author":"Fong","year":"2012","journal-title":"Clin Exp Dermatol"},{"key":"10.1111\/ced.12587-BIB0009|ced12587-cit-0009","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1002\/(SICI)1096-8628(19990806)85:4<365::AID-AJMG12>3.0.CO;2-#","article-title":"Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia)","volume":"85","author":"Konig","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1111\/ced.12587-BIB0010|ced12587-cit-0010","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1111\/ced.12248","article-title":"Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient","volume":"39","author":"Wang","year":"2014","journal-title":"Clin Exp Dermatol"}],"container-title":["Clinical and Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fced.12587","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1111\/ced.12587\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T14:40:55Z","timestamp":1676385655000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ced\/article\/40\/5\/529\/6621361"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,16]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,7]]}},"URL":"https:\/\/doi.org\/10.1111\/ced.12587","relation":{},"ISSN":["0307-6938"],"issn-type":[{"value":"0307-6938","type":"print"}],"subject":[],"published":{"date-parts":[[2015,2,16]]}}}