Art

J-GLOBAL ID：201202201153291996   Reference number：12A1218986

Selective haploinsufficiency of longer isoforms of PTCH1 protein can cause nevoid basal cell carcinoma syndrome

PTCH1蛋白質の長いアイソフォームの選択的ハプロ不全は母斑性基底細胞癌症候群を引き起こせる

Author (10)： SUZUKI Maiko (Kitasato Univ. Graduate School of Medical Sci., Sagamihara, JPN) ,  HATSUSE Hiromi (Kitasato Univ. Graduate School of Medical Sci., Sagamihara, JPN) ,  NAGAO Kazuaki (Kitasato Univ. Graduate School of Medical Sci., Sagamihara, JPN) ,  TAKAYAMA Yoshinaga (Kitasato Univ. Graduate School of Medical Sci., Sagamihara, JPN) ,  KAMEYAMA Kohzoh (Kitasato Univ. Graduate School of Medical Sci., Sagamihara, JPN) ,  KABASAWA Yuji (Tokyo Medical and Dental Univ., Tokyo, JPN) ,  OMURA Ken (Tokyo Medical and Dental Univ., Tokyo, JPN) ,  YOSHIDA Masayuki (Tokyo Medical and Dental Univ., Tokyo, JPN) ,  FUJII Katsunori (Chiba Univ. Graduate School of Medicine, Chiba, JPN) ,  MIYASHITA Toshiyuki (Kitasato Univ. Graduate School of Medical Sci., Sagamihara, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 57  Issue： 7  Page： 422-426  Publication year： Jul. 2012 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： gene dosage effect ,...
Semi thesaurus term： *PTCH1 gene ,...

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JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Genetic variation  (EC01030Y)

Reference (18)：

• GORLIN, R. J. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. N. Engl. J. Med. 1960, 262, 908-912
• GORLIN, R. J. Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore). 1987, 66, 98-113
• JOHNSON, R. L. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science. 1996, 272, 1668-1671
• HAHN, H. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell. 1996, 85, 841-851
• INGHAM, P. W. Hedgehog signaling in animal development : paradigms and principles. Genes Dev. 2001, 15, 3059-3087

Terms in the title (4)： 蛋白質 ,  アイソフォーム ,  ハプロ不全 ,  母斑性基底細胞癌症候群