{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:20:23Z","timestamp":1790742023341,"version":"4.1.0"},"reference-count":21,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"23","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,12,5]]},"DOI":"10.4103\/0366-6999.194648","type":"journal-article","created":{"date-parts":[[2016,11,25]],"date-time":"2016-11-25T07:26:24Z","timestamp":1480058784000},"page":"2834-2839","source":"Crossref","is-referenced-by-count":35,"title":["Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease"],"prefix":"10.1097","volume":"129","author":[{"given":"Cheng","family":"Zhou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guang-Dong","family":"Wen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lwin Myint","family":"Soe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong-Jun","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Du","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian-Zhong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-12-20210129","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":"R2-12-20210129","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 Invest Dermatol"},{"key":"R3-12-20210129","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1111\/jdv.12966","article-title":"European S1 guideline for the treatment of hidradenitis suppurativa\/acne inversa","volume":"29","author":"Zouboulis","year":"2015","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"R4-12-20210129","doi-asserted-by":"crossref","first-page":"1648","DOI":"10.1523\/JNEUROSCI.3826-09.2010","article-title":"Gamma-secretase composed of PS1\/Pen2\/Aph1a can cleave notch and amyloid precursor protein in the absence of nicastrin","volume":"30","author":"Zhao","year":"2010","journal-title":"J Neurosci"},{"key":"R5-12-20210129","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1159\/000360818","article-title":"Familial disseminated comedones without dyskeratosis: Report of an affected family and review of the literature","volume":"228","author":"Cheng","year":"2014","journal-title":"Dermatology"},{"key":"R6-12-20210129","doi-asserted-by":"crossref","first-page":"1807","DOI":"10.1001\/archderm.1978.01640240049016","article-title":"Familial comedones. Evidence for autosomal dominant inheritance","volume":"114","author":"Cant\u00fa","year":"1978","journal-title":"Arch Dermatol"},{"key":"R7-12-20210129","doi-asserted-by":"crossref","first-page":"S23","DOI":"10.1016\/j.jaad.2015.07.047","article-title":"New insights into the diagnosis of hidradenitis suppurativa: Clinical presentations and phenotypes","volume":"73","author":"van der Zee","year":"2015","journal-title":"J Am Acad Dermatol"},{"key":"R8-12-20210129","doi-asserted-by":"crossref","first-page":"1506","DOI":"10.1038\/jid.2012.472","article-title":"Identification of three hidradenitis suppurativa phenotypes: Latent class analysis of a cross-sectional study","volume":"133","author":"Canoui-Poitrine","year":"2013","journal-title":"J Invest Dermatol"},{"key":"R9-12-20210129","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1159\/000358170","article-title":"Expanding phenotypic spectrum of familial comedones","volume":"228","author":"Rerknimitr","year":"2014","journal-title":"Dermatology"},{"key":"R10-12-20210129","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.annder.2015.12.005","article-title":"Familial multiple comedones and PEN-2 mutation","volume":"143","author":"Dereure","year":"2016","journal-title":"Ann Dermatol Venereol"},{"key":"R11-12-20210129","first-page":"446","article-title":"Reticulate pigmented anomaly of the flexures (Dowling-Degos disease): A case report associated with hidradenitis suppurativa and squamous cell carcinoma","volume":"45","author":"Weber","year":"1990","journal-title":"Cutis"},{"key":"R12-12-20210129","doi-asserted-by":"crossref","first-page":"191","DOI":"10.4103\/2229-5178.115514","article-title":"Dowling-Degos disease and hidradenitis suppurativa: Co occurrence or association?","volume":"4","author":"Choudhary","year":"2013","journal-title":"Indian Dermatol Online J"},{"key":"R13-12-20210129","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/j.ad.2014.09.010","article-title":"Dowling-Degos disease associated with hidradenitis suppurativa: A case report","volume":"106","author":"Arjona-Aguilera","year":"2015","journal-title":"Actas Dermosifiliogr"},{"key":"R14-12-20210129","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.ajhg.2013.12.003","article-title":"Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease","volume":"94","author":"Basmanav","year":"2014","journal-title":"Am J Hum Genet"},{"key":"R15-12-20210129","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1111\/j.1365-2230.2004.01631.x","article-title":"Hidradenitis suppurativa, Dowling-Degos and multiple epidermal cysts: A new follicular occlusion triad","volume":"29","author":"Loo","year":"2004","journal-title":"Clin Exp Dermatol"},{"key":"R16-12-20210129","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1111\/j.1440-0960.1997.tb01700.x","article-title":"Hidradenitis suppurativa, Dowling Degos disease and perianal squamous cell carcinoma","volume":"38","author":"Li","year":"1997","journal-title":"Australas J Dermatol"},{"key":"R17-12-20210129","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1016\/0190-9622(91)70141-N","article-title":"Dowling-Degos disease, hidradenitis suppurativa, and multiple keratoacanthomas. A disorder that may be caused by a single underlying defect in pilosebaceous epithelial proliferation","volume":"24","author":"Fenske","year":"1991","journal-title":"J Am Acad Dermatol"},{"key":"R18-12-20210129","doi-asserted-by":"crossref","first-page":"S8","DOI":"10.1016\/j.jaad.2015.07.045","article-title":"Pathophysiology of hidradenitis suppurativa: An update","volume":"73","author":"Prens","year":"2015","journal-title":"J Am Acad Dermatol"},{"key":"R19-12-20210129","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1038\/jid.2012.372","article-title":"g-Secretase mutations in hidradenitis suppurativa: New insights into disease pathogenesis","volume":"133","author":"Pink","year":"2013","journal-title":"J Invest Dermatol"},{"key":"R20-12-20210129","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1111\/exd.12911","article-title":"Expanding the spectrum of \u03b3-secretase gene mutation-associated phenotypes: Twonovel mutations segregating with familial hidradenitis suppurativa (acne inversa) and acne conglobata","volume":"25","author":"Ratnamala","year":"2016","journal-title":"Exp Dermatol"},{"key":"R21-12-20210129","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1159\/000382122","article-title":"A frameshift mutation in PEN-2 causes familial comedones syndrome","volume":"231","author":"Panmontha","year":"2015","journal-title":"Dermatology"}],"container-title":["Chinese Medical Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.4103\/0366-6999.194648","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,17]],"date-time":"2021-06-17T19:41:37Z","timestamp":1623958897000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00029330-201612050-00012"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,12,5]]},"references-count":21,"journal-issue":{"issue":"23","published-print":{"date-parts":[[2016]]}},"URL":"https:\/\/doi.org\/10.4103\/0366-6999.194648","relation":{},"ISSN":["0366-6999"],"issn-type":[{"value":"0366-6999","type":"print"}],"subject":[],"published":{"date-parts":[[2016,12,5]]}}}