{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T08:22:09Z","timestamp":1740126129914,"version":"3.37.3"},"reference-count":8,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2018,4,1]],"date-time":"2018-04-01T00:00:00Z","timestamp":1522540800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,4,1]]},"DOI":"10.1111\/bjd.16274","type":"journal-article","created":{"date-parts":[[2017,12,24]],"date-time":"2017-12-24T09:51:29Z","timestamp":1514109089000},"page":"986-986","source":"Crossref","is-referenced-by-count":2,"title":["Novel <i>POFUT1<\/i> mutation associated with hidradenitis suppurativa\u2013Dowling\u2013Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder: reply from the authors"],"prefix":"10.1093","volume":"178","author":[{"given":"M.","family":"Pavlovsky","sequence":"first","affiliation":[{"name":"Department of Dermatology Tel Aviv Sourasky Medical Center Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Sarig","sequence":"additional","affiliation":[{"name":"Department of Dermatology Tel Aviv Sourasky Medical Center Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Eskin-Schwartz","sequence":"additional","affiliation":[{"name":"Department of Dermatology Tel Aviv Sourasky Medical Center Tel Aviv Israel"},{"name":"Department of Human Molecular Genetics and Biochemistry Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Hafner","sequence":"additional","affiliation":[{"name":"Department of Dermatology Tel Aviv Sourasky Medical Center Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4093-1032","authenticated-orcid":false,"given":"E.","family":"Sprecher","sequence":"additional","affiliation":[{"name":"Department of Dermatology Tel Aviv Sourasky Medical Center Tel Aviv Israel"},{"name":"Department of Human Molecular Genetics and Biochemistry Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2018,4,1]]},"reference":[{"key":"2023011316191986500_bjd16274-bib-0001","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/j.ajhg.2013.04.022","article-title":"Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease","volume":"92","author":"Li","year":"2013","journal-title":"Am J Hum Genet"},{"key":"2023011316191986500_bjd16274-bib-0002","doi-asserted-by":"crossref","first-page":"e15842","DOI":"10.1371\/journal.pone.0015842","article-title":"Notch signaling regulates late-stage epidermal differentiation and maintains postnatal hair cycle homeostasis","volume":"6","author":"Lin","year":"2011","journal-title":"PLOS ONE"},{"key":"2023011316191986500_bjd16274-bib-0003","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1111\/bjd.16000","article-title":"A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN","volume":"178","author":"Pavlovsky","year":"2018","journal-title":"Br J Dermatol"},{"key":"2023011316191986500_bjd16274-bib-0004","doi-asserted-by":"crossref","first-page":"1485","DOI":"10.1172\/JCI90667","article-title":"Mutations in gamma-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa","volume":"127","author":"Ralser","year":"2017","journal-title":"J Clin Invest"},{"key":"2023011316191986500_bjd16274-bib-0005","doi-asserted-by":"crossref","first-page":"2834","DOI":"10.4103\/0366-6999.194648","article-title":"Novel mutations in PSENEN gene in two Chinese acne inversa families manifested as familial multiple comedones and Dowling-Degos disease","volume":"129","author":"Zhou","year":"2016","journal-title":"Chin Med J (Engl)"},{"key":"2023011316191986500_bjd16274-bib-0006","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1111\/bjd.13019","article-title":"What's in a disease name?","volume":"170","author":"Sprecher","year":"2014","journal-title":"Br J Dermatol"},{"key":"2023011316191986500_bjd16274-bib-0007","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.det.2015.08.002","article-title":"Prevalence, risk factors, and comorbidities of hidradenitis suppurativa","volume":"34","author":"Miller","year":"2016","journal-title":"Dermatol Clin"},{"key":"2023011316191986500_bjd16274-bib-0008","doi-asserted-by":"crossref","first-page":"2459","DOI":"10.1038\/jid.2012.162","article-title":"Mutations in the gamma-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa)","volume":"132","author":"Pink","year":"2012","journal-title":"J Invest Dermatol"}],"container-title":["British Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fbjd.16274","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bjd.16274","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/bjd.16274","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/bjd\/article-pdf\/178\/4\/986\/47588032\/bjd0986.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bjd\/article-pdf\/178\/4\/986\/47588032\/bjd0986.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T13:38:41Z","timestamp":1676381921000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bjd\/article\/178\/4\/986\/6602455"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4,1]]},"references-count":8,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2018,4,1]]},"published-print":{"date-parts":[[2018,4,1]]}},"URL":"https:\/\/doi.org\/10.1111\/bjd.16274","relation":{},"ISSN":["1365-2133","0007-0963"],"issn-type":[{"type":"electronic","value":"1365-2133"},{"type":"print","value":"0007-0963"}],"subject":[],"published-other":{"date-parts":[[2018,4,1]]},"published":{"date-parts":[[2018,4,1]]}}}