{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:20:14Z","timestamp":1790742014086,"version":"4.1.0"},"reference-count":12,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2017,10,1]],"date-time":"2017-10-01T00:00:00Z","timestamp":1506816000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T00:00:00Z","timestamp":1538352000000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["jidonline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[2017,10]]},"DOI":"10.1016\/j.jid.2017.05.021","type":"journal-article","created":{"date-parts":[[2017,6,8]],"date-time":"2017-06-08T09:30:28Z","timestamp":1496914228000},"page":"2234-2236","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":21,"title":["PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and\u00a0Dowling-Degos Disease (DDD): Is\u00a0AI\u00a0or\u00a0DDD the Subphenotype?"],"prefix":"10.1016","volume":"137","author":[{"given":"Chengrang","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenrui","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haoxiang","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaofeng","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin","family":"Su","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanlu","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baoxi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jid.2017.05.021_bib11","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.ajhg.2013.12.003","article-title":"Mutations in\u00a0POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease","volume":"94","author":"Basmanav","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2017.05.021_bib12","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1086\/500850","article-title":"Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease","volume":"78","author":"Betz","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2017.05.021_bib1","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1007\/s00439-013-1331-2","article-title":"Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease","volume":"132","author":"Cooper","year":"2013","journal-title":"Hum Genet"},{"key":"10.1016\/j.jid.2017.05.021_bib2","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1038\/nature12111","article-title":"The zebrafish reference genome sequence and its relationship to the human genome","volume":"496","author":"Howe","year":"2013","journal-title":"Nature"},{"key":"10.1016\/j.jid.2017.05.021_bib3","doi-asserted-by":"crossref","first-page":"3524","DOI":"10.1093\/hmg\/ddt207","article-title":"Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease","volume":"22","author":"Kono","year":"2013","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jid.2017.05.021_bib4","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":"10.1016\/j.jid.2017.05.021_bib5","doi-asserted-by":"crossref","first-page":"1568","DOI":"10.1038\/jid.2011.42","article-title":"PSENEN and NCSTN mutations in familial hidradenitis suppurativa (acne inversa)","volume":"131","author":"Pink","year":"2011","journal-title":"J\u00a0Invest Dermatol"},{"key":"10.1016\/j.jid.2017.05.021_bib6","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\u00a0Clin Invest"},{"key":"10.1016\/j.jid.2017.05.021_bib7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.det.2015.08.009","article-title":"Diagnosing hidradenitis suppurativa","volume":"34","author":"Revuz","year":"2016","journal-title":"Dermatol Clin"},{"key":"10.1016\/j.jid.2017.05.021_bib8","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1126\/science.1196284","article-title":"Gamma-secretase gene mutations in familial acne inversa","volume":"330","author":"Wang","year":"2010","journal-title":"Science"},{"key":"10.1016\/j.jid.2017.05.021_bib9","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"},{"key":"10.1016\/j.jid.2017.05.021_bib10","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1159\/000431175","article-title":"Hidradenitis suppurativa\/acne inversa: criteria for diagnosis, severity assessment, classification and disease evaluation","volume":"231","author":"Zouboulis","year":"2015","journal-title":"Dermatology"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X1731607X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X1731607X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,15]],"date-time":"2019-04-15T21:58:08Z","timestamp":1555365488000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X1731607X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10]]},"references-count":12,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2017,10]]}},"alternative-id":["S0022202X1731607X"],"URL":"https:\/\/doi.org\/10.1016\/j.jid.2017.05.021","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[2017,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and\u00a0Dowling-Degos Disease (DDD): Is\u00a0AI\u00a0or\u00a0DDD the Subphenotype?","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jid.2017.05.021","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 The Authors. Published by Elsevier, Inc. on behalf of the Society for Investigative Dermatology.","name":"copyright","label":"Copyright"}]}}