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UPDATED MOLECULAR GENETICS AND PATHOGENESIS OF ICHTHYOSES
https://doi.org/10.18999/nagjms.73.3-4.79
https://doi.org/10.18999/nagjms.73.3-4.7972f15cec-18b9-4c20-94e3-8e5588e6f028
名前 / ファイル | ライセンス | アクション |
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v73n34p79_90.pdf (702.1 kB)
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Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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公開日 | 2011-08-24 | |||||
タイトル | ||||||
タイトル | UPDATED MOLECULAR GENETICS AND PATHOGENESIS OF ICHTHYOSES | |||||
言語 | en | |||||
著者 |
AKIYAMA, MASASHI
× AKIYAMA, MASASHI |
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アクセス権 | ||||||
アクセス権 | open access | |||||
アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | ABCA12 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Congenital ichthyosiform erythroderma | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Epidermolytic ichthyosis | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Harlequin ichthyosis | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Lamellar ichthyosis | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Prenatal diagnosis | |||||
抄録 | ||||||
内容記述 | Research into the molecular genetics and pathomechanisms of ichthyoses have advanced considerably, resulting in the identification of several causative genes and molecules underlying the disease. In 2009, the First Ichthyosis Consensus Conference was held to establish a consensus for the nomenclature and classification of inherited ichthyoses, by which an international consensus for the classification of inherited ichthyosis was achieved. In this review, the pathogeneses of various ichthyoses are summarized based on their revised classification and terminology. Skin barrier defects are involved in the pathogenesis of various types of ichthyosis. The known causative molecules underlying ichthyosis include ABCA12, lipoxygenase-3, 12R-lipoxygenase, CYP4F22, ichthyin and steroid sulfatase, all of which are thought to be related to the intercellular lipid layers. ABCA12 is a known keratinocyte lipid transporter associated with lipid transport in lamellar granules and a loss of ABCA12 function leads to defective lipid transport in the keratinocytes, resulting in the most severe, harlequin ichthyosis phenotype. Other causative molecules for ichthyoses are transglutaminase 1, keratins and filaggrin. Transglutaminase 1 plays a role in cornified cell envelope formation. Keratins 1, 10 and 2 are involved in the keratin network of suprabasal keratinocytes and filaggrin is essential for the formation of keratohyalin granules. It is important to obtain information concerning genetic defects and to elucidate ichthyotic disease pathomechanisms for the establishment of an effective therapy and beneficial genetic counseling, including a prenatal diagnosis for families affected by ichthyotic disease. | |||||
言語 | en | |||||
内容記述タイプ | Abstract | |||||
出版者 | ||||||
言語 | en | |||||
出版者 | Nagoya University School of Medicine | |||||
言語 | ||||||
言語 | eng | |||||
資源タイプ | ||||||
資源 | http://purl.org/coar/resource_type/c_6501 | |||||
タイプ | departmental bulletin paper | |||||
出版タイプ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
ID登録 | ||||||
ID登録 | 10.18999/nagjms.73.3-4.79 | |||||
ID登録タイプ | JaLC | |||||
関連情報 | ||||||
関連タイプ | isVersionOf | |||||
識別子タイプ | URI | |||||
関連識別子 | http://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/7334/7334.html | |||||
ISSN(print) | ||||||
収録物識別子タイプ | PISSN | |||||
収録物識別子 | 0027-7622 | |||||
ISSN(Online) | ||||||
収録物識別子タイプ | EISSN | |||||
収録物識別子 | 2186-3326 | |||||
書誌情報 |
en : Nagoya Journal of Medical Science 巻 73, 号 3-4, p. 79-90, 発行日 2011-08 |
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著者版フラグ | ||||||
値 | publisher | |||||
URI | ||||||
識別子 | http://hdl.handle.net/2237/15351 | |||||
識別子タイプ | HDL |