| Item type |
学術雑誌論文 / Journal Article_02(1) |
| 公開日 |
2007-04-12 |
| タイトル |
|
|
タイトル |
Mutant loricrin is not crosslinked into the cornified cell envelope but is translocated into the nucleus in loricrin keratoderma |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| 資源タイプ |
|
|
資源タイプ |
journal article |
| 著者 |
山本, 明美
Kato, H
Kiyama, H
Armstrong, DKB
Munro, CS
Eady, RAJ
Nakamura, S
Kinouchi, M
Takahashi, H
Iizuka, H
|
| 著者 ローマ字 |
|
|
|
Yamamoto, Akemi |
| 書誌情報 |
JOURNAL OF INVESTIGATIVE DERMATOLOGY
巻 115,
号 6,
p. 1088-1094,
発行日 2000-12-01
|
| ISSN |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
0022-202X |
| DOI |
|
|
関連タイプ |
isVersionOf |
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
10.1046/j.1523-1747.2000.00163.x |
| リンクURL |
|
|
内容記述タイプ |
Other |
|
内容記述 |
http://www.nature.com/jid/journal/v115/n6/abs/5600916a.html | http://www.nature.com/jid/journal/v115/n6/abs/5600916a.html |
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
Loricrin is a major constituent of the epidermal cornified cell envelope (CE). We have recently identified heterozygous loricrin gene mutations in two dominantly inherited skin diseases, the ichthyotic variant of Vohwinkel syndrome (IVS) and progressive symmetric erythrokeratoderma with palmoplantar keratoderma (PSEK-PPK), collectively termed loricrin keratoderma (LK). In order to see whether the mutant loricrin molecules predicted by DNA sequencing are expressed in vivo and to define their pathological effects, we raised antibodies against synthetic peptides corresponding to the mutated sequences of loricrin. Immunoblotting of horny cell extracts from LK patients showed specific bands for mutant loricrin. Immunohistochemistry of LK skin biopsies showed positive immunoreactivity to the mutant loricrin antibodies in the nuclei of differentiated epidermal keratinocytes. The immunostaining was localized to the nucleoli of the middle epidermal layer. As keratinocyte differentiation progressed the immunoreactivity moved gradually into the nucleoplasm leaving nucleoli mostly non-immunoreactive. No substantial staining was observed along the CE. The present study confirmed that mutant loricrin was expressed in the LK skin. Mutant loricrin, as a dominant negative disrupter, is not likely to affect CE crosslinking directly, but seems to interfere with nuclear/nucleolar functions of differentiating keratinocytes. In addition, detection of the mutant loricrin in scraped horny layer could provide a simple non-invasive screening test for LK. |
| 注記 |
|
|
内容記述タイプ |
Other |
|
注記 |
BLACKWELL SCIENCE INC, Ishida-Yamamoto, A; Kato, H; Kiyama, H; Armstrong, DKB; Munro, CS; Eady, RAJ; Nakamura, S; Kinouchi, M; Takahashi, H; Iizuka, H, JOURNAL OF INVESTIGATIVE DERMATOLOGY, 115(6), 2000, 1088-1094.
\nauthor |
| 資源タイプ |
|
|
内容記述タイプ |
Other |
|
資源タイプ |
text |
| 著者版フラグ |
|
|
出版タイプ |
AM |
| フォーマット |
|
|
内容記述タイプ |
Other |
|
内容記述 |
application/pdf |
| ID(XooNIps) |
|
|
|
AKE5870 |
| 閲覧数(XooNIps) |
|
| ダウンロード数(XooNIps) |
|
|
|
990 |
435.pdf (424.9 kB)
