| pubmed-article:20489143 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:20489143 | lifeskim:mentions | umls-concept:C1123023 | lld:lifeskim |
| pubmed-article:20489143 | lifeskim:mentions | umls-concept:C0026809 | lld:lifeskim |
| pubmed-article:20489143 | lifeskim:mentions | umls-concept:C0026336 | lld:lifeskim |
| pubmed-article:20489143 | lifeskim:mentions | umls-concept:C1159909 | lld:lifeskim |
| pubmed-article:20489143 | lifeskim:mentions | umls-concept:C0239849 | lld:lifeskim |
| pubmed-article:20489143 | lifeskim:mentions | umls-concept:C1254042 | lld:lifeskim |
| pubmed-article:20489143 | lifeskim:mentions | umls-concept:C0243067 | lld:lifeskim |
| pubmed-article:20489143 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:20489143 | pubmed:dateCreated | 2010-7-7 | lld:pubmed |
| pubmed-article:20489143 | pubmed:abstractText | 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. | lld:pubmed |
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| pubmed-article:20489143 | pubmed:language | eng | lld:pubmed |
| pubmed-article:20489143 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20489143 | pubmed:citationSubset | AIM | lld:pubmed |
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| pubmed-article:20489143 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:20489143 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:20489143 | pubmed:issn | 1525-2191 | lld:pubmed |
| pubmed-article:20489143 | pubmed:author | pubmed-author:AkiyamaMasash... | lld:pubmed |
| pubmed-article:20489143 | pubmed:author | pubmed-author:TanakaShinyaS | lld:pubmed |
| pubmed-article:20489143 | pubmed:author | pubmed-author:ShimizuHirosh... | lld:pubmed |
| pubmed-article:20489143 | pubmed:author | pubmed-author:KitaharaTakas... | lld:pubmed |
| pubmed-article:20489143 | pubmed:author | pubmed-author:NishiharaHiro... | lld:pubmed |
| pubmed-article:20489143 | pubmed:author | pubmed-author:NaoeAyanoA | lld:pubmed |
| pubmed-article:20489143 | pubmed:author | pubmed-author:SakaiKaoriK | lld:pubmed |
| pubmed-article:20489143 | pubmed:author | pubmed-author:YanagiTerukiT | lld:pubmed |
| pubmed-article:20489143 | pubmed:author | pubmed-author:IshikawaJunko... | lld:pubmed |
| pubmed-article:20489143 | pubmed:author | pubmed-author:MiyamuraYukiY | lld:pubmed |
| pubmed-article:20489143 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:20489143 | pubmed:volume | 177 | lld:pubmed |
| pubmed-article:20489143 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:20489143 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:20489143 | pubmed:pagination | 106-18 | lld:pubmed |
| pubmed-article:20489143 | pubmed:dateRevised | 2011-8-1 | lld:pubmed |
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| pubmed-article:20489143 | pubmed:year | 2010 | lld:pubmed |
| pubmed-article:20489143 | pubmed:articleTitle | Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice. | lld:pubmed |
| pubmed-article:20489143 | pubmed:affiliation | Department of Dermatology, Hokkaido University Graduate School of Medicine, N15 W7, Kita-ku, Sapporo 060-8638, Japan. | lld:pubmed |
| pubmed-article:20489143 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:20489143 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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