{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:41:38Z","timestamp":1788871298156,"version":"build-2803163510"},"reference-count":39,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2007,7,1]],"date-time":"2007-07-01T00:00:00Z","timestamp":1183248000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2007,7,1]],"date-time":"2007-07-01T00:00:00Z","timestamp":1183248000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["ajp.amjpathol.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Pathology"],"published-print":{"date-parts":[[2007,7]]},"DOI":"10.2353\/ajpath.2007.061207","type":"journal-article","created":{"date-parts":[[2007,5,10]],"date-time":"2007-05-10T21:10:13Z","timestamp":1178831413000},"page":"43-52","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":35,"title":["Expression of the Keratinocyte Lipid Transporter ABCA12 in Developing and Reconstituted Human Epidermis"],"prefix":"10.1016","volume":"171","author":[{"given":"Yasuko","family":"Yamanaka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masashi","family":"Akiyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoriko","family":"Sugiyama-Nakagiri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaori","family":"Sakai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maki","family":"Goto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"McMillan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuhito","family":"Ota","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Sawamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Shimizu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.2353\/ajpath.2007.061207_bib1","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.1093\/hmg\/5.10.1649","article-title":"Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database","volume":"5","author":"Allikmets","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.2353\/ajpath.2007.061207_bib2","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1146\/annurev.biochem.71.102301.093055","article-title":"Mammalian ABC transporters in health and disease","volume":"71","author":"Borst","year":"2002","journal-title":"Annu Rev Biochem"},{"key":"10.2353\/ajpath.2007.061207_bib3","doi-asserted-by":"crossref","first-page":"1156","DOI":"10.1101\/gr.184901","article-title":"The human ATP-binding cassette (ABC) transporter superfamily","volume":"11","author":"Dean","year":"2001","journal-title":"Genome Res"},{"key":"10.2353\/ajpath.2007.061207_bib4","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/S0005-2736(99)00161-3","article-title":"An inventory of the human ABC proteins","volume":"1461","author":"Klein","year":"1999","journal-title":"Biochim Biophys Acta"},{"key":"10.2353\/ajpath.2007.061207_bib5","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1146\/annurev.cb.08.110192.000435","article-title":"ABC transporters: from microorganisms to man","volume":"8","author":"Higgins","year":"1992","journal-title":"Annu Rev Cell Biol"},{"key":"10.2353\/ajpath.2007.061207_bib6","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/S0022-2836(02)01105-1","article-title":"Characterization of the ABCA transporter subfamily: identification of prokaryotic and eukaryotic members, phylogeny and topology","volume":"325","author":"Peelman","year":"2003","journal-title":"J Mol Biol"},{"key":"10.2353\/ajpath.2007.061207_bib7","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1038\/ng0397-236","article-title":"A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy","volume":"15","author":"Allikmets","year":"1997","journal-title":"Nat Genet"},{"key":"10.2353\/ajpath.2007.061207_bib8","doi-asserted-by":"crossref","first-page":"1805","DOI":"10.1126\/science.277.5333.1805","article-title":"Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration","volume":"277","author":"Allikmets","year":"1997","journal-title":"Science"},{"key":"10.2353\/ajpath.2007.061207_bib9","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1038\/11905","article-title":"Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency","volume":"22","author":"Brooks-Wilson","year":"1999","journal-title":"Nat Genet"},{"key":"10.2353\/ajpath.2007.061207_bib10","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1038\/11921","article-title":"Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1","volume":"22","author":"Rust","year":"1999","journal-title":"Nat Genet"},{"key":"10.2353\/ajpath.2007.061207_bib11","doi-asserted-by":"crossref","first-page":"1296","DOI":"10.1056\/NEJMoa032178","article-title":"ABCA3 gene mutations in newborns with fatal surfactant deficiency","volume":"350","author":"Shulenin","year":"2004","journal-title":"N Engl J Med"},{"key":"10.2353\/ajpath.2007.061207_bib12","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1038\/72869","article-title":"Transport of lipids from Golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice","volume":"24","author":"Ors\u00f3","year":"2000","journal-title":"Nat Genet"},{"key":"10.2353\/ajpath.2007.061207_bib13","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1097\/00041433-200104000-00006","article-title":"Structure, function and regulation of the ABC1 gene product","volume":"12","author":"Schmitz","year":"2001","journal-title":"Curr Opin Lipidol"},{"key":"10.2353\/ajpath.2007.061207_bib14","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1006\/bbrc.2001.4305","article-title":"Complete coding sequence, promoter region, and genomic structure of the human ABCA2 gene and evidence for sterol-dependent regulation in macrophages","volume":"281","author":"Kaminski","year":"2001","journal-title":"Biochem Biophys Res Commun"},{"key":"10.2353\/ajpath.2007.061207_bib15","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/S0014-5793(01)03056-3","article-title":"ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells","volume":"508","author":"Yamano","year":"2001","journal-title":"FEBS Lett"},{"key":"10.2353\/ajpath.2007.061207_bib16","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.bbrc.2004.09.043","article-title":"Human ABCA3, a product of a responsible gene for abca3 for fetal surfactant deficiency in new borns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles","volume":"324","author":"Nagata","year":"2004","journal-title":"Biochem Biophys Res Commun"},{"key":"10.2353\/ajpath.2007.061207_bib17","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1086\/303100","article-title":"Simple and complex ABCR: genetic predisposition to retinal disease","volume":"67","author":"Allikmets","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.2353\/ajpath.2007.061207_bib18","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1172\/JCI24834","article-title":"Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer","volume":"115","author":"Akiyama","year":"2005","journal-title":"J Clin Invest"},{"key":"10.2353\/ajpath.2007.061207_bib19","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1086\/429844","article-title":"Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis","volume":"76","author":"Kelsell","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.2353\/ajpath.2007.061207_bib20","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1111\/1523-1747.ep12371764","article-title":"Characteristic morphologic abnormality of harlequin ichthyosis detected in amniotic fluid cells","volume":"102","author":"Akiyama","year":"1994","journal-title":"J Invest Dermatol"},{"key":"10.2353\/ajpath.2007.061207_bib21","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1111\/1523-1747.ep12873301","article-title":"Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: variable morphology and structural protein expression and a defect in lamellar granules","volume":"94","author":"Dale","year":"1990","journal-title":"J Invest Dermatol"},{"key":"10.2353\/ajpath.2007.061207_bib22","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1111\/1523-1747.ep12614791","article-title":"Abnormal lamellar granules in harlequin ichthyosis","volume":"99","author":"Milner","year":"1992","journal-title":"J Invest Dermatol"},{"key":"10.2353\/ajpath.2007.061207_bib23","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1111\/j.1600-0560.1992.tb01666.x","article-title":"Harlequin fetus with abnormal lamellar granules and giant mitochondria","volume":"19","author":"Hashimoto","year":"1992","journal-title":"J Cutan Pathol"},{"key":"10.2353\/ajpath.2007.061207_bib24","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1111\/j.1525-1470.1993.tb00365.x","article-title":"Electron microscopic studies of harlequin fetuses","volume":"10","author":"Hashimoto","year":"1993","journal-title":"Pediatr Dermatol"},{"key":"10.2353\/ajpath.2007.061207_bib25","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1111\/j.1600-0560.1996.tb01452.x","article-title":"Cornified cell envelop proteins and keratins are normally distributed in harlequin ichthyosis","volume":"23","author":"Akiyama","year":"1996","journal-title":"J Cutan Pathol"},{"key":"10.2353\/ajpath.2007.061207_bib26","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1002\/(SICI)1097-0223(199805)18:5<425::AID-PD284>3.0.CO;2-B","article-title":"Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses","volume":"18","author":"Akiyama","year":"1998","journal-title":"Prenat Diagn"},{"key":"10.2353\/ajpath.2007.061207_bib27","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1111\/j.1365-2133.2005.06778.x","article-title":"Prenatal exclusion of harlequin ichthyosis; potential pitfalls in the timing of the fetal skin biopsy","volume":"153","author":"Shimizu","year":"2005","journal-title":"Br J Dermatol"},{"key":"10.2353\/ajpath.2007.061207_bib28","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/S0140-6736(83)91780-4","article-title":"Prenatal diagnosis of harlequin ichthyosis","volume":"1","author":"Blanchet-Bardon","year":"1983","journal-title":"Lancet"},{"key":"10.2353\/ajpath.2007.061207_bib29","doi-asserted-by":"crossref","first-page":"1437","DOI":"10.1001\/archderm.1993.01680320071010","article-title":"Prenatal diagnosis of genetic skin disease using fetal skin biopsy samples","volume":"129","author":"Holbrook","year":"1993","journal-title":"Arch Dermatol"},{"key":"10.2353\/ajpath.2007.061207_bib30","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1002\/(SICI)1097-0223(199902)19:2<167::AID-PD477>3.0.CO;2-V","article-title":"Prenatal diagnosis of harlequin ichthyosis by the examinations of keratinized hair canals and amniotic fluid cells at 19 weeks' estimated gestational age","volume":"19","author":"Akiyama","year":"1999","journal-title":"Prenat Diagn"},{"key":"10.2353\/ajpath.2007.061207_bib31","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1111\/1523-1747.ep12398465","article-title":"Analysis of skin-derived amniotic fluid cells in the second trimester; detection of severe genodermatoses expressed in the fetal period","volume":"103","author":"Akiyama","year":"1994","journal-title":"J Invest Dermatol"},{"key":"10.2353\/ajpath.2007.061207_bib32","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/S0733-8635(18)30772-1","article-title":"Genetically transmitted, generalized disorders of cornification; the ichthyoses","volume":"5","author":"Williams","year":"1987","journal-title":"Dermatol Clin"},{"key":"10.2353\/ajpath.2007.061207_bib33","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1046\/j.1365-4362.2001.01173.x","article-title":"Successful treatment of harlequin ichthyosis with acitretin","volume":"40","author":"Franco","year":"2001","journal-title":"Int J Dermatol"},{"key":"10.2353\/ajpath.2007.061207_bib34","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1046\/j.1365-2133.1996.d01-1019.x","article-title":"A longitudinal study of a harlequin infant presenting clinically as non-bullous congenital ichthyosiform erythroderma","volume":"135","author":"Haftek","year":"1996","journal-title":"Br J Dermatol"},{"key":"10.2353\/ajpath.2007.061207_bib35","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1046\/j.1523-1747.1999.00592.x","article-title":"Periderm cells form cornified cell envelope in their regression process during human epidermal development","volume":"112","author":"Akiyama","year":"1999","journal-title":"J Invest Dermatol"},{"key":"10.2353\/ajpath.2007.061207_bib36","doi-asserted-by":"crossref","first-page":"1518","DOI":"10.1038\/sj.jid.5700295","article-title":"Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity","volume":"126","author":"Akiyama","year":"2006","journal-title":"J Invest Dermatol"},{"key":"10.2353\/ajpath.2007.061207_bib37","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1038\/sj.gt.3302709","article-title":"Hair follicle stem cell-targeted gene transfer and reconstitution system","volume":"13","author":"Sugiyama-Nakagiri","year":"2006","journal-title":"Gene Ther"},{"key":"10.2353\/ajpath.2007.061207_bib38","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1111\/1523-1747.ep12470400","article-title":"Skin lipid content during early fetal development","volume":"91","author":"Williams","year":"1988","journal-title":"J Invest Dermatol"},{"key":"10.2353\/ajpath.2007.061207_bib39","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1046\/j.1523-1747.2003.12032.x","article-title":"Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation","volume":"120","author":"Raghunath","year":"2003","journal-title":"J Invest Dermatol"}],"container-title":["The American Journal of Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002944010619414?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002944010619414?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T14:12:21Z","timestamp":1757599941000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002944010619414"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,7]]},"references-count":39,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,7]]}},"alternative-id":["S0002944010619414"],"URL":"https:\/\/doi.org\/10.2353\/ajpath.2007.061207","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.723821412.541060","asserted-by":"object"}]},"ISSN":["0002-9440"],"issn-type":[{"value":"0002-9440","type":"print"}],"subject":[],"published":{"date-parts":[[2007,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Expression of the Keratinocyte Lipid Transporter ABCA12 in Developing and Reconstituted Human Epidermis","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Pathology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.2353\/ajpath.2007.061207","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2007 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}