{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T19:53:44Z","timestamp":1770753224402,"version":"3.50.0"},"reference-count":40,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jdsjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Dermatological Science"],"published-print":{"date-parts":[[2022,2]]},"DOI":"10.1016\/j.jdermsci.2022.01.001","type":"journal-article","created":{"date-parts":[[2022,1,5]],"date-time":"2022-01-05T11:49:04Z","timestamp":1641383344000},"page":"80-87","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Evolutionary distinct roles of \u03b3-secretase subunit nicastrin in zebrafish and humans"],"prefix":"10.1016","volume":"105","author":[{"given":"Matthias Andreas","family":"Hermasch","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helena","family":"Janning","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roshan Priyarangana","family":"Perera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viktor","family":"Schnabel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"Rostam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernanda","family":"Ramos-Gomes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wiebke","family":"Muschalek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anette","family":"Bennemann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frauke","family":"Alves","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damian Johannes","family":"Ralser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina Christine","family":"Betz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael Peter","family":"Sch\u00f6n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roland","family":"Dosch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"Frank","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.jdermsci.2022.01.001_bib1","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1242\/dev.106567","article-title":"The melanocyte lineage in development and disease","volume":"142","author":"Mort","year":"2015","journal-title":"Development"},{"issue":"3","key":"10.1016\/j.jdermsci.2022.01.001_bib2","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1083\/jcb.200509084","article-title":"Notch signaling via Hes1 transcription factor maintains survival of melanoblasts and melanocyte stem cells","volume":"173","author":"Moriyama","year":"2006","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.jdermsci.2022.01.001_bib3","doi-asserted-by":"crossref","first-page":"427","DOI":"10.3389\/fncel.2014.00427","article-title":"The gamma-secretase complex: from structure to function","volume":"8","author":"Zhang","year":"2014","journal-title":"Front. Cell. Neurosci."},{"key":"10.1016\/j.jdermsci.2022.01.001_bib4","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/1750-1326-1-4","article-title":"Pathological and physiological functions of presenilins","volume":"1","author":"Vetrivel","year":"2006","journal-title":"Mol. Neurodegener."},{"issue":"9","key":"10.1016\/j.jdermsci.2022.01.001_bib5","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1007\/s00415-005-0799-7","article-title":"PEN-2 gene mutation in a familial Alzheimer\u2019s disease case","volume":"252","author":"Sala Frigerio","year":"2005","journal-title":"J. Neurol."},{"issue":"5","key":"10.1016\/j.jdermsci.2022.01.001_bib6","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1111\/j.1471-4159.2006.03648.x","article-title":"Zebrafish lacking Alzheimer presenilin enhancer 2 (Pen-2) demonstrate excessive p53-dependent apoptosis and neuronal loss","volume":"96","author":"Campbell","year":"2006","journal-title":"J. Neurochem."},{"issue":"6","key":"10.1016\/j.jdermsci.2022.01.001_bib7","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1086\/509900","article-title":"Mutations of presenilin genes in dilated cardiomyopathy and heart failure","volume":"79","author":"Li","year":"2006","journal-title":"Am. J. Hum. Genet."},{"issue":"9","key":"10.1016\/j.jdermsci.2022.01.001_bib8","doi-asserted-by":"crossref","first-page":"10650","DOI":"10.18632\/oncotarget.7298","article-title":"The expression of presenilin 1 enhances carcinogenesis and metastasis in gastric cancer","volume":"7","author":"Li","year":"2016","journal-title":"Oncotarget"},{"issue":"4","key":"10.1016\/j.jdermsci.2022.01.001_bib9","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"},{"issue":"10","key":"10.1016\/j.jdermsci.2022.01.001_bib10","doi-asserted-by":"crossref","first-page":"2234","DOI":"10.1016\/j.jid.2017.05.021","article-title":"PSENEN mutation carriers with co-manifestation of Acne Inversa (AI) and Dowling-Degos Disease (DDD): Is AI or DDD the subphenotype?","volume":"137","author":"Li","year":"2017","journal-title":"J. Invest. Dermatol."},{"issue":"7","key":"10.1016\/j.jdermsci.2022.01.001_bib11","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."},{"issue":"23","key":"10.1016\/j.jdermsci.2022.01.001_bib12","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."},{"issue":"4","key":"10.1016\/j.jdermsci.2022.01.001_bib13","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1111\/bjd.15805","article-title":"A path through the reticulate pigmentation disorder jungle","volume":"177","author":"Betz","year":"2017","journal-title":"Br. J. Dermatol."},{"issue":"3","key":"10.1016\/j.jdermsci.2022.01.001_bib14","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1016\/S0190-9622(99)70498-6","article-title":"Dowling-Degos disease (reticulate pigmented anomaly of the flexures): a clinical and histopathologic study of 6 cases","volume":"40","author":"Kim","year":"1999","journal-title":"J. Am. Acad. Dermatol."},{"issue":"2","key":"10.1016\/j.jdermsci.2022.01.001_bib15","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1056\/NEJMcp1014163","article-title":"Clinical practice. Hidradenitis suppurativa","volume":"366","author":"Jemec","year":"2012","journal-title":"New Engl. J. Med"},{"issue":"6","key":"10.1016\/j.jdermsci.2022.01.001_bib16","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1046\/j.1468-3083.2001.00303.x","article-title":"Acne inversa (alias hidradenitis suppurativa)","volume":"15","author":"Jansen","year":"2001","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"issue":"6007","key":"10.1016\/j.jdermsci.2022.01.001_bib17","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"},{"issue":"6","key":"10.1016\/j.jdermsci.2022.01.001_bib18","doi-asserted-by":"crossref","first-page":"1469","DOI":"10.1007\/s00438-018-1475-9","article-title":"A novel NCSTN gene mutation in a Chinese family with acne inversa","volume":"293","author":"Wu","year":"2018","journal-title":"Mol. Genet. Genom."},{"issue":"39","key":"10.1016\/j.jdermsci.2022.01.001_bib19","doi-asserted-by":"crossref","first-page":"37213","DOI":"10.1074\/jbc.M303941200","article-title":"Assembly of the gamma-secretase complex involves early formation of an intermediate subcomplex of Aph-1 and nicastrin","volume":"278","author":"LaVoie","year":"2003","journal-title":"J. Biol. Chem."},{"issue":"5","key":"10.1016\/j.jdermsci.2022.01.001_bib20","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1016\/j.jid.2017.09.050","article-title":"Intra- and Interfamilial Phenotype Variability Associated with Mutations in gamma-Secretase Subunit-Encoding PSENEN","volume":"138","author":"Frank","year":"2018","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.jdermsci.2022.01.001_bib21","series-title":"The zebrafish book. A guide for the laboratory use of zebrafish (Danio rerio)","author":"Westerfield","year":"2000"},{"issue":"3","key":"10.1016\/j.jdermsci.2022.01.001_bib22","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1177\/0023677219869037","article-title":"Zebrafish: housing and husbandry recommendations","volume":"54","author":"Alestrom","year":"2020","journal-title":"Lab. Anim."},{"issue":"3","key":"10.1016\/j.jdermsci.2022.01.001_bib23","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1089\/oli.1.1997.7.187","article-title":"Morpholino antisense oligomers: design, preparation, and properties","volume":"7","author":"Summerton","year":"1997","journal-title":"Antisense Nucleic Acid. Drug Dev."},{"key":"10.1016\/j.jdermsci.2022.01.001_bib24","doi-asserted-by":"crossref","DOI":"10.1002\/0471142727.mb0320s110","article-title":"Site-specific recombinational cloning using gateway and in-fusion cloning schemes","volume":"110","author":"Park","year":"2015","journal-title":"Curr. Protoc. Mol. Biol."},{"key":"10.1016\/j.jdermsci.2022.01.001_bib25","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/B978-0-12-418687-3.00019-7","article-title":"Site-directed mutagenesis","volume":"529","author":"Bachman","year":"2013","journal-title":"Methods Enzym."},{"key":"10.1016\/j.jdermsci.2022.01.001_bib26","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/978-1-62703-625-2_4","article-title":"Overlap extension PCR cloning","volume":"1073","author":"Bryksin","year":"2013","journal-title":"Methods Mol. Biol."},{"issue":"2","key":"10.1016\/j.jdermsci.2022.01.001_bib27","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1111\/j.1365-2133.2011.10372.x","article-title":"Two novel mutations of the nicastrin gene in Chinese patients with acne inversa","volume":"165","author":"Li","year":"2011","journal-title":"Br. J. Dermatol."},{"issue":"2","key":"10.1016\/j.jdermsci.2022.01.001_bib28","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.dsi.2013.06.003","article-title":"Identification of one novel mutation of the NCSTN gene in one Chinese acne inversa family","volume":"32","author":"Ma","year":"2014","journal-title":"Dermatol. Sin."},{"issue":"2","key":"10.1016\/j.jdermsci.2022.01.001_bib29","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1016\/j.jid.2019.07.702","article-title":"Nicastrin deficiency induces Tyrosinase-dependent depigmentation and skin inflammation","volume":"140","author":"Hsu","year":"2020","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.jdermsci.2022.01.001_bib30","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1242\/dev.123.1.179","article-title":"Mutations in zebrafish genes affecting the formation of the boundary between midbrain and hindbrain","volume":"123","author":"Brand","year":"1996","journal-title":"Development"},{"key":"10.1016\/j.jdermsci.2022.01.001_bib31","article-title":"NCSTN deficiency and depigmentation: all about tyrosinase?","author":"Hermasch","year":"2020","journal-title":"J. Invest. Dermatol."},{"issue":"9","key":"10.1016\/j.jdermsci.2022.01.001_bib32","doi-asserted-by":"crossref","first-page":"4894","DOI":"10.1073\/pnas.1916645117","article-title":"Essential requirement for nicastrin in marginal zone and B-1 B cell development","volume":"117","author":"Choi","year":"2020","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"issue":"16","key":"10.1016\/j.jdermsci.2022.01.001_bib33","doi-asserted-by":"crossref","first-page":"2791","DOI":"10.1016\/j.yexcr.2009.06.023","article-title":"Independent and cooperative action of Psen2 with Psen1 in zebrafish embryos","volume":"315","author":"Nornes","year":"2009","journal-title":"Exp. Cell Res."},{"issue":"7","key":"10.1016\/j.jdermsci.2022.01.001_bib34","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1093\/hmg\/ddy414","article-title":"Analysis of hidradenitis suppurativa-linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages","volume":"28","author":"Li","year":"2019","journal-title":"Hum. Mol. Genet."},{"issue":"2","key":"10.1016\/j.jdermsci.2022.01.001_bib35","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1111\/bjd.19539","article-title":"Comorbid acne inversa and Dowling-Degos disease due to a single NCSTN mutation: is there enough evidence?","volume":"184","author":"Hermasch","year":"2021","journal-title":"Br. J. Dermatol."},{"issue":"4","key":"10.1016\/j.jdermsci.2022.01.001_bib36","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1111\/bjd.19121","article-title":"Novel nicastrin mutation in hidradenitis suppurativa-Dowling Degos disease clinical phenotype: more than just clinical overlap?","volume":"183","author":"Garcovich","year":"2020","journal-title":"Br. J. Dermatol."},{"issue":"4","key":"10.1016\/j.jdermsci.2022.01.001_bib37","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1101\/gad.1407606","article-title":"Quality control of gene expression: a stepwise assembly pathway for the surveillance complex that triggers nonsense-mediated mRNA decay","volume":"20","author":"Behm-Ansmant","year":"2006","journal-title":"Genes Dev."},{"issue":"7800","key":"10.1016\/j.jdermsci.2022.01.001_bib38","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1038\/s41586-020-2100-8","article-title":"Elpistostege and the origin of the vertebrate hand","volume":"579","author":"Cloutier","year":"2020","journal-title":"Nature"},{"issue":"10","key":"10.1016\/j.jdermsci.2022.01.001_bib39","doi-asserted-by":"crossref","first-page":"2339","DOI":"10.1242\/dev.129.10.2339","article-title":"Knockdown of duplicated zebrafish hoxb1 genes reveals distinct roles in hindbrain patterning and a novel mechanism of duplicate gene retention","volume":"129","author":"McClintock","year":"2002","journal-title":"Development"},{"key":"10.1016\/j.jdermsci.2022.01.001_bib40","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.dci.2016.12.001","article-title":"Structure and functionalities of the human c-reactive protein compared to the zebrafish multigene family of c-reactive-like proteins","volume":"69","author":"Bello-Perez","year":"2017","journal-title":"Dev. Comp. Immunol."}],"container-title":["Journal of Dermatological Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181122000019?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181122000019?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T04:52:21Z","timestamp":1760331141000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0923181122000019"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2]]},"references-count":40,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,2]]}},"alternative-id":["S0923181122000019"],"URL":"https:\/\/doi.org\/10.1016\/j.jdermsci.2022.01.001","relation":{},"ISSN":["0923-1811"],"issn-type":[{"value":"0923-1811","type":"print"}],"subject":[],"published":{"date-parts":[[2022,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Evolutionary distinct roles of \u03b3-secretase subunit nicastrin in zebrafish and humans","name":"articletitle","label":"Article Title"},{"value":"Journal of Dermatological Science","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jdermsci.2022.01.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Japanese Society for Investigative Dermatology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}