http://purl.uniprot.org/citations/20489143 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/20489143 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/20489143 | http://www.w3.org/2000/01/rdf-schema#comment | "Harlequin ichthyosis (HI) is caused by loss-of-function mutations in the keratinocyte lipid transporter ABCA12. The patients often die in the first 1 or 2 weeks of life, although HI survivors' phenotypes improve within several weeks after birth. In order to clarify the mechanisms of phenotypic recovery, we studied grafted skin and keratinocytes from Abca12-disrupted (Abca12(-/-)) mice showing abnormal lipid transport. Abca12(-/-) neonatal epidermis showed significantly reduced total ceramide amounts and aberrant ceramide composition. Immunofluorescence and immunoblotting of Abca12(-/-) neonatal epidermis revealed defective profilaggrin/filaggrin conversion and reduced protein expression of the differentiation-specific molecules, loricrin, kallikrein 5, and transglutaminase 1, although their mRNA expression was up-regulated. In contrast, Abca12(-/-) skin grafts kept in a dry environment exhibited dramatic improvements in all these abnormalities. Increased transepidermal water loss, a parameter representing barrier defect, was remarkably decreased in grafted Abca12(-/-) skin. Ten-passage sub-cultured Abca12(-/-) keratinocytes showed restoration of intact ceramide distribution, differentiation-specific protein expression and profilaggrin/filaggrin conversion, which were defective in primary-cultures. Using cDNA microarray analysis, lipid transporters including four ATP-binding cassette transporters were up-regulated after sub-culture of Abca12(-/-) keratinocytes compared with primary-culture. These results indicate that disrupted keratinocyte differentiation during the fetal development is involved in the pathomechanism of HI and, during maturation, Abca12(-/-) epidermal keratinocytes regain normal differentiation processes. This restoration may account for the skin phenotype improvement observed in HI survivors."xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.org/dc/terms/identifier | "doi:10.2353/ajpath.2010.091120"xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.org/dc/terms/identifier | "doi:10.2353/ajpath.2010.091120"xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.uniprot.org/core/author | "Nishihara H."xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.uniprot.org/core/author | "Nishihara H."xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.uniprot.org/core/author | "Ishikawa J."xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.uniprot.org/core/author | "Ishikawa J."xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.uniprot.org/core/author | "Sakai K."xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.uniprot.org/core/author | "Sakai K."xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.uniprot.org/core/author | "Shimizu H."xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.uniprot.org/core/author | "Shimizu H."xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.uniprot.org/core/author | "Tanaka S."xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.uniprot.org/core/author | "Tanaka S."xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.uniprot.org/core/author | "Akiyama M."xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.uniprot.org/core/author | "Akiyama M."xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.uniprot.org/core/author | "Kitahara T."xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.uniprot.org/core/author | "Kitahara T."xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.uniprot.org/core/author | "Miyamura Y."xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.uniprot.org/core/author | "Miyamura Y."xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.uniprot.org/core/author | "Naoe A."xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.uniprot.org/core/author | "Naoe A."xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.uniprot.org/core/author | "Yanagi T."xsd:string |
http://purl.uniprot.org/citations/20489143 | http://purl.uniprot.org/core/author | "Yanagi T."xsd:string |