Art

J-GLOBAL ID：201702214877637407   Reference number：17A0972278

Case of harlequin ichthyosis with a favorable outcome: Early treatment and novel, differentially expressed, alternatively spliced transcripts of the ATP-binding cassette subfamily A member 12 gene

良好な結果を示したハーレクイン型魚鱗癬症例:初期治療およびATP結合カセットサブファミリーAメンバー12遺伝子の新しい,異なって発現する,選択的にスプライスされた転写物

Author (10)： Washio Ken (Division of Dermatology, Nishi-Kobe Medical Center, Kobe, Japan) ,  Washio Ken (Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Sumi Mayuko (Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Nakata Kaori (Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Fukunaga Atsushi (Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Yamana Keiji (Division of Pediatrics, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Koda Tsubasa (Division of Pediatrics, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Morioka Ichiro (Division of Pediatrics, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Nishigori Chikako (Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Yamanishi Kiyofumi (Department of Dermatology, Hyogo College of Medicine, Nishinomiya, Japan)
Material： Journal of Dermatology  (J Dermatol)
Volume： 44  Issue： 8  Page： 950-953  Publication year： Aug. 2017 
JST Material Number： W1578A  ISSN： 0385-2407  Document type： Article
Article type： 原著論文  Country of issue： Australia (AUS)  Language： ENGLISH (EN)

Thesaurus term： *ichthyosis ,...
Semi thesaurus term： *harlequin Ichthyosis ,...

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Author keywords (5)： alternative splicing ,  autosomal recessive congenital ichthyosis ,  etretinate ,  harlequin ichthyosis ,  human ABCA12 protein

JST classification (3)： Drug therapy(=pharmacotherapy)for skin diseases  (GF05020A) ,  Clinical application of drugs acting on integumentum commune  (GW12020J) ,  Research methods in genetics  (EC01020N)

Substance index (1)： Etretinate

Reference (7)：

• Ahmed H, O'Toole EA. Recent advances in the genetics and management of harlequin ichthyosis. Pediatr Dermatol 2014; 31: 539-546.
• Rajpopat S, Moss C, Mellerio J et al. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol 2011; 147: 681-686.
• Shibata A, Akiyama M. Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan. Pediatr Int 2015; 57: 516-522.
• Akiyama M, Sugiyama-Nakagiri Y, Sakai K et al. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest 2005; 115: 1777-1784.
• Akiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts. Hum Mutat 2010; 31: 1090-1096.

Terms in the title (10)： 魚鱗癬 ,  症例 ,  初期治療 ,  ATP結合カセット ,  サブ ,  ファミリー ,  メンバー ,  遺伝子 ,  発現 ,  転写