『徳島大学 教育・研究者情報データベース (EDB)』---[学外] /
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種別 (必須): 学術論文 (審査論文) [継承]
言語 (必須): 英語 [継承]
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カテゴリ (推奨):
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著者 (必須): 1.金山 博臣 ([徳島大学.大学院医歯薬学研究部.医学域.医科学部門.外科系.泌尿器科学])
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2. (英) Lui Weng-Onn (日) (読)
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3.高橋 正幸 ([徳島大学.大学院医歯薬学研究部.医学域.医科学部門.外科系.泌尿器科学]/[徳島大学.病院.診療科.外科.泌尿器科])
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4. (英) Naroda Takushi (日) (読)
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5. (英) Kedra Darek (日) (読)
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6. (英) Wong Ki Fung (日) (読)
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7. (英) Kuroki Yoko (日) (読)
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8.中堀 豊
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9. (英) Larsson Catharina (日) (読)
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10.香川 征
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11. (英) Teh Tean Bin (日) (読)
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題名 (必須): (英) Association of a novel constitutional translocation t(1q;3q) with familial renal cell carcinoma  (日)    [継承]
副題 (任意):
要約 (任意): (英) Four cases of late onset clear cell renal cell carcinoma (RCC), a case of gastric cancer, and a case of exocrine pancreatic cancer were identified in a Japanese family. In order to elucidate the underlying mechanism for tumorigenesis in this family, extensive genetic studies were performed including routine and spectral karyotyping (SKY), fluorescence in situ hybridisation (FISH), comparative genomic hybridisation (CGH), loss of heterozygosity studies (LOH), and VHL mutation analysis. A germline translocation t(1;3)(q32-q41;q13-q21) was identified by karyotyping in five members of the family including all three RCC cases tested. The translocation was refined to t(1;3)(q32;q13.3) by FISH analysis using locus specific genomic clones, and the two breakpoints were mapped to a 5 cM region in 3q13.3 and a 3.6 cM region in 1q32. Both CGH and allelotyping using microsatellite markers showed loss of the derivative chromosome 3 carrying a 1q segment in the three familial RCCs analysed. Additional chromosomal imbalances were identified by CGH, including amplifications of chromosomes 5 and 7 and loss of 8p and 9. No germline VHL mutation was found but two different somatic mutations, a splice (IVS1-2A>C) and a frameshift (726delG), were identified in two RCCs from the same patient confirming their distinct origin. Taken together, these results firmly support a three step model for tumorigenesis in this family. A constitutional translocation t(1q;3q) increased the susceptibility to loss of the derivative chromosome 3 which is then followed by somatic mutations of the RCC related tumour suppressor gene VHL located in the remaining copy of chromosome 3.  (日)    [継承]
キーワード (推奨): 1. (英) familial renal cell carcinoma (日) (読) [継承]
2. (英) translocation (日) (読) [継承]
3. (英) von Hippel-Lindau disease (日) (読) [継承]
4. (英) loss of heterozygosity (日) (読) [継承]
発行所 (推奨):
誌名 (必須): Journal of Medical Genetics (British Medical Association)
(pISSN: 0022-2593, eISSN: 1468-6244)

ISSN (任意): 1468-6244
ISSN: 0022-2593 (pISSN: 0022-2593, eISSN: 1468-6244)
Title: Journal of medical genetics
Title(ISO): J Med Genet
Publisher: BMJ Group
 (NLM Catalog  (Scopus  (CrossRef (Scopus information is found. [need login])
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(必須): 38 [継承]
(必須): 3 [継承]
(必須): 165 170 [継承]
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年月日 (必須): 西暦 2001年 3月 初日 (平成 13年 3月 初日) [継承]
URL (任意): http://jmg.bmjjournals.com/cgi/content/abstract/38/3/165 [継承]
DOI (任意): 10.1136/jmg.38.3.165    (→Scopusで検索) [継承]
PMID (任意): 11238683    (→Scopusで検索) [継承]
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備考 (任意): 1.(英) Article.Affiliation: Department of Urology, School of Medicine, The University of Tokushima, Japan.  (日)    [継承]
2.(英) Article.PublicationTypeList.PublicationType: Comparative Study  (日)    [継承]
3.(英) Article.PublicationTypeList.PublicationType: Journal Article  (日)    [継承]
4.(英) Article.PublicationTypeList.PublicationType: Research Support, Non-U.S. Gov't  (日)    [継承]
5.(英) OtherID: PMC1734822  (日)    [継承]

標準的な表示

和文冊子 ● Hiro-omi Kanayama, Weng-Onn Lui, Masayuki Takahashi, Takushi Naroda, Darek Kedra, Fung Ki Wong, Yoko Kuroki, Yutaka Nakahori, Catharina Larsson, Susumu Kagawa and Bin Tean Teh : Association of a novel constitutional translocation t(1q;3q) with familial renal cell carcinoma, Journal of Medical Genetics, Vol.38, No.3, 165-170, 2001.
欧文冊子 ● Hiro-omi Kanayama, Weng-Onn Lui, Masayuki Takahashi, Takushi Naroda, Darek Kedra, Fung Ki Wong, Yoko Kuroki, Yutaka Nakahori, Catharina Larsson, Susumu Kagawa and Bin Tean Teh : Association of a novel constitutional translocation t(1q;3q) with familial renal cell carcinoma, Journal of Medical Genetics, Vol.38, No.3, 165-170, 2001.

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