{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T02:54:30Z","timestamp":1781578470841,"version":"3.54.5"},"reference-count":26,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,4,22]],"date-time":"2024-04-22T00:00:00Z","timestamp":1713744000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["jidonline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[2024,12]]},"DOI":"10.1016\/j.jid.2024.03.041","type":"journal-article","created":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T16:00:36Z","timestamp":1713456036000},"page":"2754-2763.e6","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1"],"prefix":"10.1016","volume":"144","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6076-9992","authenticated-orcid":false,"given":"Katalin","family":"Komlosi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5077-3034","authenticated-orcid":false,"given":"Cristina","family":"Glocker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-8924-7239","authenticated-orcid":false,"given":"Hao-Hsiang","family":"Hsu-Rehder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2233-8734","authenticated-orcid":false,"given":"Svenja","family":"Alter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5122-4827","authenticated-orcid":false,"given":"Julia","family":"Kopp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2560-3951","authenticated-orcid":false,"given":"Alrun","family":"Hotz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5595-9388","authenticated-orcid":false,"given":"Andreas David","family":"Zimmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1095-4962","authenticated-orcid":false,"given":"Ingrid","family":"Hausser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3794-9458","authenticated-orcid":false,"given":"Roger","family":"Sandhoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1380-4828","authenticated-orcid":false,"given":"Vinzenz","family":"Oji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8580-8118","authenticated-orcid":false,"given":"Judith","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jid.2024.03.041_bib1","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.jdermsci.2017.06.002","article-title":"Corneocyte lipid envelope (CLE), the key structure for skin barrier function and ichthyosis pathogenesis","volume":"88","author":"Akiyama","year":"2017","journal-title":"J\u00a0Dermatol Sci"},{"key":"10.1016\/j.jid.2024.03.041_bib2","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1016\/j.biopsych.2016.08.008","article-title":"Nonsynonymous variation in NKPD1 increases depressive symptoms in European populations","volume":"81","author":"Amin","year":"2017","journal-title":"Biol Psychiatry"},{"key":"10.1016\/j.jid.2024.03.041_bib3","doi-asserted-by":"crossref","first-page":"R30","DOI":"10.1186\/gb-2004-5-5-r30","article-title":"A\u00a0novel family of P-loop NTPases with an unusual phyletic distribution and transmembrane segments inserted within the NTPase domain","volume":"5","author":"Aravind","year":"2004","journal-title":"Genome Biol"},{"key":"10.1016\/j.jid.2024.03.041_bib4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1139\/bcb-2018-0353","article-title":"Cellular roles of the human Obg-like ATPase 1 (hOLA1) and its YchF homologs","volume":"98","author":"Balasingam","year":"2020","journal-title":"Biochem Cell Biol"},{"key":"10.1016\/j.jid.2024.03.041_bib5","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/j.ajhg.2020.05.013","article-title":"Mutations in ASPRV1 cause dominantly inherited ichthyosis","volume":"107","author":"Boyden","year":"2020","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2024.03.041_bib28","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1038\/nrm1619","article-title":"The cornified envelope: a model of cell death in the skin","volume":"6","author":"Candi","year":"2005","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.jid.2024.03.041_bib6","doi-asserted-by":"crossref","DOI":"10.2340\/00015555-3432","article-title":"Genetics of inherited ichthyoses and related diseases","volume":"100","author":"Fischer","year":"2020","journal-title":"Acta Derm Venereol"},{"key":"10.1016\/j.jid.2024.03.041_bib7","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1001\/archderm.1966.01600260005001","article-title":"Ichthyosiform dermatoses. Classification based on anatomic and biometric observations","volume":"94","author":"Frost","year":"1966","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.jid.2024.03.041_bib9","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1016\/j.ajhg.2017.05.007","article-title":"Mutations in SULT2B1 cause autosomal-recessive congenital ichthyosis in humans","volume":"100","author":"Heinz","year":"2017","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2024.03.041_bib10","doi-asserted-by":"crossref","first-page":"473","DOI":"10.2340\/00015555-2299","article-title":"Expanding the clinical and genetic spectrum of KRT1, KRT2 and KRT10 mutations in keratinopathic ichthyosis","volume":"96","author":"Hotz","year":"2016","journal-title":"Acta Derm Venereol"},{"key":"10.1016\/j.jid.2024.03.041_bib11","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1093\/hmg\/ddr494","article-title":"Loss of ceramide synthase 3 causes lethal skin barrier disruption","volume":"21","author":"Jennemann","year":"2012","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jid.2024.03.041_bib12","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1007\/s00441-014-2105-4","article-title":"Keratins and skin disease","volume":"360","author":"Kn\u00f6bel","year":"2015","journal-title":"Cell Tissue Res"},{"key":"10.1016\/j.jid.2024.03.041_bib13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF00412487","article-title":"Autosomal-dominant lamellar ichthyosis: ultrastructural characteristics of a new type of congenital ichthyosis","volume":"278","author":"Kolde","year":"1985","journal-title":"Arch Dermatol Res"},{"key":"10.1016\/j.jid.2024.03.041_bib14","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/ng1195-241","article-title":"Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results","volume":"11","author":"Lander","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/j.jid.2024.03.041_bib15","doi-asserted-by":"crossref","first-page":"17763","DOI":"10.1074\/jbc.273.28.17763","article-title":"Ceramides are bound to structural proteins of the human foreskin epidermal cornified cell envelope","volume":"273","author":"Marekov","year":"1998","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.jid.2024.03.041_bib16","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1111\/j.1399-0004.1989.tb02921.x","article-title":"Autosomal dominant lamellar ichthyosis exhibits an abnormal scale lipid pattern","volume":"35","author":"Melnik","year":"1989","journal-title":"Clin Genet"},{"key":"10.1016\/j.jid.2024.03.041_bib17","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.jaad.2009.11.020","article-title":"Revised nomenclature and classification of inherited ichthyoses: results of the First ichthyosis Consensus Conference in Sor\u00e8ze 2009","volume":"63","author":"Oji","year":"2010","journal-title":"J\u00a0Am Acad Dermatol"},{"key":"10.1016\/j.jid.2024.03.041_bib18","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/S0065-2660(01)42019-0","article-title":"Major strengths and weaknesses of the lod score method","volume":"42","author":"Ott","year":"2001","journal-title":"Adv Genet"},{"key":"10.1016\/j.jid.2024.03.041_bib19","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1093\/hmg\/ddab309","article-title":"Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients","volume":"31","author":"Pilz","year":"2022","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jid.2024.03.041_bib20","doi-asserted-by":"crossref","first-page":"43","DOI":"10.3390\/bioengineering5020043","article-title":"Bioengineering of a full-thickness skin equivalent in a 96-well insert format for substance permeation studies and Organ-On-A-chip applications","volume":"5","author":"Schimek","year":"2018","journal-title":"Bioengineering (Basel)"},{"key":"10.1016\/j.jid.2024.03.041_bib21","author":"Scott"},{"issue":"1.30","key":"10.1016\/j.jid.2024.03.041_bib22","first-page":"1","article-title":"The GeneCards suite: from gene data mining to disease genome sequence analyses","volume":"54","author":"Stelzer","year":"2016","journal-title":"Curr Protoc Bioinformatics"},{"key":"10.1016\/j.jid.2024.03.041_bib24","series-title":"The ichthyoses: a guide to clinical diagnosis, genetic counseling, and therapy","author":"Traupe","year":"1989"},{"key":"10.1016\/j.jid.2024.03.041_bib25","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1111\/j.1399-0004.1984.tb01089.x","article-title":"Autosomal dominant lamellar ichthyosis: a new skin disorder","volume":"26","author":"Traupe","year":"1984","journal-title":"Clin Genet"},{"key":"10.1016\/j.jid.2024.03.041_bib26","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1093\/hmg\/ddab309","article-title":"Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients","volume":"31","author":"Pilz","year":"2022","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jid.2024.03.041_bib27","doi-asserted-by":"crossref","first-page":"43","DOI":"10.3390\/bioengineering5020043","article-title":"Bioengineering of a full-thickness skin equivalent in a 96-well insert format for substance permeation studies and Organ-On-A-chip applications","volume":"5","author":"Schimek","year":"2018","journal-title":"Bioengineering (Basel)"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X24003038?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X24003038?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,11,28]],"date-time":"2024-11-28T13:58:15Z","timestamp":1732802295000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X24003038"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12]]},"references-count":26,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["S0022202X24003038"],"URL":"https:\/\/doi.org\/10.1016\/j.jid.2024.03.041","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[2024,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jid.2024.03.041","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier, Inc. on behalf of the Society for Investigative Dermatology.","name":"copyright","label":"Copyright"}]}}