Art

J-GLOBAL ID：201902271745051581   Reference number：19A1481414

Development of metachronous rectal cancers in a young man with dyskeratosis congenita: a case report

先天性角化異常症の若年男性における異時性直腸癌の発生:症例報告【JST・京大機械翻訳】

Author (7)： Watanabe Motoko (Department of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan) ,  Yamamoto Gou (Department of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan) ,  Fujiyoshi Kenji (Department of Surgery, Kurume University, Fukuoka, Japan) ,  Akagi Yoshito (Department of Surgery, Kurume University, Fukuoka, Japan) ,  Kakuta Miho (Department of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan) ,  Nishimura Yoji (Division of Gastroenterological Surgery, Saitama Cancer Center, Saitama, Japan) ,  Akagi Kiwamu (Department of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan)
Material： Journal of Medical Case Reports (Web)
Volume： 13  Issue： 1  Page： 117  Publication year： 2019 
JST Material Number： U7518A  ISSN： 1752-1947  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Abstract/Point： DKC1 (dyskerin pseudouridine s...

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Thesaurus term： surveillance ,  *human ,  missense mutation ,  *Rectum ,  RNA ,  *case report ,  *rectal neoplasm ,  Adenocarcinoma ,  gene ,  Microsatellite Instability ,  Japanese ,  *juvenile
Semi thesaurus term： 結腸直腸癌 ,  家族歴 ,  悪性腫瘍 ,  *異時性 , 【Automatic Indexing@JST】

Author keywords (5)： Dyskeratosis congenita ,  Rectal cancer ,  DKC1 ,  Missense variant ,  X-linked recessive

JST classification (1)： Urogenital tumors(=neoplasms)  (GM04000S)

Reference (20)：

• Ikonogr Dermal Kioto; Atrophia cutis reticularis cum pigmentatione dystrophia unguium et leukoplakia oris; F Zinsser; 5; 1910; 219-223; citation_id=CR1
• Genet Med; The genetics and clinical manifestations of telomere biology disorders; SA Savage, AA Bertuch; 12; 2010; 753-764; 10.1097/GIM.0b013e3181f415b5; citation_id=CR2
• Br J Haematol; Dyskeratosis congenita in all its forms; I Dokal; 110; 2000; 768-779; 10.1046/j.1365-2141.2000.02109.x; citation_id=CR3
• Br J Haematol; Advances in the understanding of dyskeratosis congenita; AJ Walne, I Dokal; 145; 2009; 164-172; 10.1111/j.1365-2141.2009.07598.x; citation_id=CR4
• Int J Hematol; Recent progress in dyskeratosis congenita; N Nishio, S Kojima; 92; 2010; 419-424; 10.1007/s12185-010-0695-5; citation_id=CR5

Terms in the title (5)： 先天性角化異常症 ,  若年男性 ,  異時性 ,  直腸癌 ,  症例報告