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J-GLOBAL ID：201902271211836163   Reference number：19A0717987

Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dube syndrome: a case report

Birt-Hogg-Dube症候群のFLCN遺伝子におけるイントロンの部分的保持を引き起こすスプライス部位突然変異:症例報告【JST・京大機械翻訳】

Author (6)： Furuya Mitsuko (Department of Molecular Pathology, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Kobayashi Hironori (Department of Thoracic Surgery, Kumamoto Saishunso National Hospital, Kumamoto, Japan) ,  Baba Masaya (International Research Center for Medical Sciences, Kumamoto University, Kumamoto, Japan) ,  Ito Takaaki (Department of Diagnostic Pathology, Kumamoto Saishunso National Hospital, Kumamoto, Japan) ,  Tanaka Reiko (Medical Mycology Research Center, Chiba University, Chiba, Japan) ,  Nakatani Yukio (Department of Diagnostic Pathology, Chiba University Graduate School of Medicine, Chiba, Japan)
Material： BMC Medical Genomics (Web)
Volume： 11  Issue： 1  Page： 42  Publication year： 2018 
JST Material Number： U7308A  ISSN： 1755-8794  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Abstract/Point： Birt-Hogg-Dube syndrome (BHD) ...

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Thesaurus term： *Mutation ,  *human ,  pathogenicity ,  mRNA ,  autosome ,  Frameshift Mutation ,  donor ,  dominance ,  wild type ,  *case report ,  *intron ,  Sequence Analysis ,  Japanese ,  *splice junction ,  *Genetic Variation
Semi thesaurus term： *variation(biology) ,  遺伝子検査 , 【Automatic Indexing@JST】

Author keywords (3)： Birt-Hogg-Dube syndrome (BHD) ,  Splice-site mutation ,  Folliculin (FLCN)

JST classification (4)： Digestive system diseases  (GH03000W) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Molecular genetics in general  (EC02010J) ,  Nervous system diseases  (GN03000O)

Reference (30)：

• Lancet Oncol; Birt-Hogg-Dube syndrome: diagnosis and management; FH Menko, MA van Steensel, S Giraud, L Friis-Hansen, S Richard, S Ungari, M Nordenskjold, TV Hansen, J Solly, ER Maher; 10; 12; 2009; 1199-1206; 10.1016/S1470-2045(09)70188-3; citation_id=CR1
• J Med Genet; BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports; JR Toro, MH Wei, GM Glenn, M Weinreich, O Toure, C Vocke, M Turner, P Choyke, MJ Merino, PA Pinto; 45; 6; 2008; 321-331; 10.1136/jmg.2007.054304; citation_id=CR2
• Cancer Cell; Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome; ML Nickerson, MB Warren, JR Toro, V Matrosova, G Glenn, ML Turner, P Duray, M Merino, P Choyke, CP Pavlovich; 2; 2; 2002; 157-164; 10.1016/S1535-6108(02)00104-6; citation_id=CR3
• Proc Natl Acad Sci U S A; Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling; M Baba, SB Hong, N Sharma, MB Warren, ML Nickerson, A Iwamatsu, D Esposito, WK Gillette, RF Hopkins, JL Hartley; 103; 42; 2006; 15552-15557; 10.1073/pnas.0603781103; citation_id=CR4
• Gene; Identification and characterization of a novel folliculin-interacting protein FNIP2; H Hasumi, M Baba, SB Hong, Y Hasumi, Y Huang, M Yao, VA Valera, WM Linehan, LS Schmidt; 415; 1-2; 2008; 60-67; 10.1016/j.gene.2008.02.022; citation_id=CR5

Terms in the title (6)： Birt-Hogg-Dube症候群 ,  FLCN遺伝子 ,  イントロン ,  スプライス部位 ,  突然変異 ,  症例報告