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Alu-mediated large deletion of the CDSN gene as a cause of peeling skin disease
http://hdl.handle.net/2297/36276
http://hdl.handle.net/2297/36276e56662d9-c677-4123-af5f-8733581252cc
名前 / ファイル | ライセンス | アクション |
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ME-PR-WADA-T-2014.pdf (473.5 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2017-10-05 | |||||
タイトル | ||||||
タイトル | Alu-mediated large deletion of the CDSN gene as a cause of peeling skin disease | |||||
言語 | ||||||
言語 | eng | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者 |
Wada, Taizo
× Wada, Taizo× Matsuda, Yusuke× Muraoka, Masahiro× Toma, Tomoko× Takehara, Kazuhiko× Fujimoto, Manabu× Yachie, Akihiro |
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書誌情報 |
Clinical Genetics 巻 xx, 号 xx, p. xxxx-xxxx, 発行日 2014-01-01 |
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ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 0009-9163 | |||||
NCID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA00607738 | |||||
DOI | ||||||
関連タイプ | isVersionOf | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1111/cge.12294 | |||||
出版者 | ||||||
出版者 | Wiley-Blackwell | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Peeling skin disease (PSD) is an autosomal recessive skin disorder caused by mutations in CDSN and is characterized by superficial peeling of the upper epidermis. Corneodesmosin (CDSN) is a major component of corneodesmosomes that plays an important role in maintaining epidermis integrity. Herein, we report a patient with PSD caused by a novel homozygous large deletion in the 6p21.3 region encompassing the CDSN gene, which abrogates CDSN expression. Several genes including C6orf15, PSORS1C1, PSORS1C2, CCHCR1, and TCF19 were also deleted, however, the patient showed only clinical features typical of PSD. The deletion size was 59.1kb. Analysis of the sequence surrounding the breakpoint showed that both telomeric and centromeric breakpoints existed within Alu-S sequences that were oriented in opposite directions. These results suggest an Alu-mediated recombination event as the mechanism underlying the deletion in our patient. © 2013 John Wiley & Sons A/S. | |||||
内容記述 | ||||||
内容記述タイプ | Other | |||||
内容記述 | In Press / 発行後1年より最終稿 | |||||
著者版フラグ | ||||||
出版タイプ | AM | |||||
出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa |