{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T23:32:50Z","timestamp":1780097570191,"version":"3.54.0"},"reference-count":21,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T00:00:00Z","timestamp":1517443200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T00:00:00Z","timestamp":1517443200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2019,2,1]],"date-time":"2019-02-01T00:00:00Z","timestamp":1548979200000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001348","name":"Agency for Science, Technology and Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001348","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["jidonline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[2018,2]]},"DOI":"10.1016\/j.jid.2017.08.045","type":"journal-article","created":{"date-parts":[[2017,9,28]],"date-time":"2017-09-28T16:35:26Z","timestamp":1506616526000},"page":"291-300","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":27,"title":["ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis"],"prefix":"10.1016","volume":"138","author":[{"given":"Marwa","family":"Chourabi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei Shan","family":"Liew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shawn","family":"Lim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorra","family":"H\u2019mida-Ben Brahim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lobna","family":"Boussofara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liang","family":"Dai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pui Mun","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia Nee","family":"Foo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Badreddine","family":"Sriha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim Samirah","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Denil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John EA","family":"Common","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ons","family":"Mama\u00ef","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Youcef","family":"Ben Khalifa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathieu","family":"Bollen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianjun","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"Denguezli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carine","family":"Bonnard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Saad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Reversade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jid.2017.08.045_bib1","doi-asserted-by":"crossref","first-page":"3566","DOI":"10.1002\/jcp.24058","article-title":"In silico analysis of the two tandem somatomedin B domains of ENPP1 reveals hints on the homodimerization of the protein","volume":"227","author":"Bellacchio","year":"2012","journal-title":"J\u00a0Cell Physiol"},{"key":"10.1016\/j.jid.2017.08.045_bib2","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1001\/archderm.1976.01630310056013","article-title":"Hypopigmentation with punctate keratosis of the palms and soles","volume":"112","author":"Cole","year":"1976","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.jid.2017.08.045_bib3","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1016\/j.bbamcr.2012.10.017","article-title":"Role of somatomedin-B-like domains on ENPP1 inhibition of insulin signaling","volume":"1833","author":"Dimatteo","year":"2013","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.jid.2017.08.045_bib4","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1016\/j.ajhg.2013.08.007","article-title":"Cole disease results from mutations in ENPP1","volume":"93","author":"Eytan","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2017.08.045_bib5","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1111\/j.1755-148X.2008.00451.x","article-title":"The reactive oxygen-driven tumor: relevance to melanoma","volume":"21","author":"Fried","year":"2008","journal-title":"Pigment Cell Melanoma Res"},{"issue":"Pt 2","key":"10.1016\/j.jid.2017.08.045_bib6","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1042\/bj20021943","article-title":"Functional characterization of the non-catalytic ectodomains of the nucleotide pyrophosphatase\/phosphodiesterase NPP1","volume":"371","author":"Gijsbers","year":"2003","journal-title":"Biochem J"},{"key":"10.1016\/j.jid.2017.08.045_bib7","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1074\/jbc.M007552200","article-title":"Structural and catalytic similarities between nucleotide pyrophosphatases\/phosphodiesterases and alkaline phosphatases","volume":"276","author":"Gijsbers","year":"2001","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.jid.2017.08.045_bib8","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1210\/er.2007-0004","article-title":"The role of membrane glycoprotein plasma cell antigen 1\/ectonucleotide pyrophosphatase phosphodiesterase 1 in the pathogenesis of insulin resistance and related abnormalities","volume":"29","author":"Goldfine","year":"2008","journal-title":"Endocr Rev"},{"key":"10.1016\/j.jid.2017.08.045_bib9","first-page":"16","article-title":"Dyschromatosis universalis hereditaria: two cases","volume":"14","author":"Kenani","year":"2008","journal-title":"Dermatol Online J"},{"key":"10.1016\/j.jid.2017.08.045_bib10","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1038\/nchembio.1661","article-title":"Hydrolysis of 2\u20323\u2032-cGAMP by ENPP1 and design of nonhydrolyzable analogs","volume":"10","author":"Li","year":"2014","journal-title":"Nat Chem Biol"},{"key":"10.1016\/j.jid.2017.08.045_bib11","doi-asserted-by":"crossref","first-page":"e87250","DOI":"10.1371\/journal.pone.0087250","article-title":"Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria","volume":"9","author":"Liu","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.jid.2017.08.045_bib12","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.ajhg.2010.01.006","article-title":"Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets","volume":"86","author":"Lorenz-Depiereux","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2017.08.045_bib13","unstructured":"Online Mendelian Inheritance in Man, OMIM.McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2000. http:\/\/www.ncbi.nlm.nih.gov\/omim\/."},{"key":"10.1016\/j.jid.2017.08.045_bib14","doi-asserted-by":"crossref","first-page":"1152","DOI":"10.1111\/bjd.14328","article-title":"Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient","volume":"174","author":"Schlipf","year":"2016","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jid.2017.08.045_bib15","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1016\/j.tibs.2005.08.005","article-title":"NPP-type ectophosphodiesterases: unity in diversity","volume":"30","author":"Stefan","year":"2005","journal-title":"Trends Biochem Sci"},{"key":"10.1016\/j.jid.2017.08.045_bib16","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1111\/j.1399-0004.2008.01000.x","article-title":"Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23","volume":"73","author":"Stuhrmann","year":"2008","journal-title":"Clin Genet"},{"key":"10.1016\/j.jid.2017.08.045_bib17","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1111\/j.0022-202X.2005.23732.x","article-title":"Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis","volume":"124","author":"Suzuki","year":"2005","journal-title":"J\u00a0Invest Dermatol"},{"key":"10.1016\/j.jid.2017.08.045_bib18","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1002\/art.1780370624","volume":"37","author":"Terkeltaub","year":"1994","journal-title":"Arthritis Rheum"},{"key":"10.1016\/j.jid.2017.08.045_bib19","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1111\/j.1365-2230.2011.04162.x","article-title":"Infancy- and childhood-onset dyschromatoses","volume":"36","author":"Vachiramon","year":"2011","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.jid.2017.08.045_bib20","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1046\/j.1525-1470.2002.00084.x","article-title":"Cole disease: hypopigmentation with punctate keratosis of the palms and soles","volume":"19","author":"Vignale","year":"2002","journal-title":"Pediatr Dermatol"},{"key":"10.1016\/j.jid.2017.08.045_bib21","doi-asserted-by":"crossref","first-page":"2221","DOI":"10.1038\/jid.2013.145","article-title":"Mutations in ABCB6 cause dyschromatosis universalis hereditaria","volume":"133","author":"Zhang","year":"2013","journal-title":"J\u00a0Invest Dermatol"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X17329822?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X17329822?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T21:40:50Z","timestamp":1762206050000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X17329822"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["S0022202X17329822"],"URL":"https:\/\/doi.org\/10.1016\/j.jid.2017.08.045","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[2018,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jid.2017.08.045","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"}]}}