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  1. C100 医学部/医学系研究科
  2. C100b 紀要
  3. Nagoya journal of medical science
  4. 73(3-4)

UPDATED MOLECULAR GENETICS AND PATHOGENESIS OF ICHTHYOSES

https://doi.org/10.18999/nagjms.73.3-4.79
https://doi.org/10.18999/nagjms.73.3-4.79
72f15cec-18b9-4c20-94e3-8e5588e6f028
名前 / ファイル ライセンス アクション
v73n34p79_90.pdf v73n34p79_90.pdf (702.1 kB)
Item type 紀要論文 / Departmental Bulletin Paper(1)
公開日 2011-08-24
タイトル
タイトル UPDATED MOLECULAR GENETICS AND PATHOGENESIS OF ICHTHYOSES
著者 AKIYAMA, MASASHI

× AKIYAMA, MASASHI

WEKO 42169

AKIYAMA, MASASHI

Search repository
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.
内容記述タイプ Abstract
出版者
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
ID登録
ID登録 10.18999/nagjms.73.3-4.79
ID登録タイプ JaLC
ISSN(print)
収録物識別子タイプ ISSN
収録物識別子 0027-7622
書誌情報 Nagoya Journal of Medical Science

巻 73, 号 3-4, p. 79-90, 発行日 2011-08
著者版フラグ
値 publisher
URI
識別子 http://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/7334/7334.html
識別子タイプ URI
URI
識別子 http://hdl.handle.net/2237/15351
識別子タイプ HDL
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