『徳島大学 教育・研究者情報データベース (EDB)』---[学外] /
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EID=93700EID:93700, Map:0, LastModified:2016年7月14日(木) 13:41:25, Operator:[三好 小文], Avail:TRUE, Censor:0, Owner:[久保 宜明], Read:継承, Write:継承, Delete:継承.
種別 (必須): 学術論文 (審査論文) [継承]
言語 (必須): 英語 [継承]
招待 (推奨):
審査 (推奨):
カテゴリ (推奨):
共著種別 (推奨): 国内共著 (徳島大学内研究者と国内(学外)研究者との共同研究 (国外研究者を含まない)) [継承]
学究種別 (推奨):
組織 (推奨): 1.徳島大学.大学院ヘルスバイオサイエンス研究部.再生修復医歯学部門.感覚運動系病態医学講座 (2004年4月1日〜) [継承]
著者 (必須): 1.久保 宜明 ([徳島大学.大学院医歯薬学研究部.医学域.医科学部門.内科系.皮膚科学])
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2. (英) Urano Yoshio (日) (読)
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3.飛田 泰斗史
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4. (英) Ikeuchi Tsuneo (日) (読)
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5. (英) Nomoto Masashi (日) (読)
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6. (英) Kunitomo Kazufumi (日) (読)
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7.荒瀬 誠治
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学籍番号 (推奨):
[継承]
題名 (必須): (英) A novel PTEN mutation in a Japanese patient with Cowden disease.  (日)    [継承]
副題 (任意):
要約 (任意): (英) Cowden disease (CD) is an autosomal dominant syndrome characterized by multiple hamartomatous lesions and an increased risk for malignancies. Recent evidence has indicated that the PTEN gene, encoding a protein tyrosine phosphatase, is the CD susceptibility gene. However, another line of evidence has suggested that CD might be genetically heterogeneous. Clinical features of CD are variable, and there are interfamilial differences in the expression of skin lesions. Therefore, information on PTEN mutations in CD patients should be accumulated to clarify the genotype-phenotype correlation. In the present study, we found heterozygous germline mutations of PTEN in all of three Japanese patients with CD examined, indicating no genetic heterogeneity among our patients. The mutations included two non-sense mutations of R335X and R130X, and a mis-sense mutation of C136R. To the best of our knowledge, the C136R mutation has not previously been reported in CD patients. This novel mutation was located outside the core motif of the phosphatase domain of PTEN protein, where most of the missense mutations previously reported in CD patients were clustered. Mucocutaneous manifestations were far fewer in the patient with this mutation than in the patients with nonsense mutations. Whether the phenotypic difference in mucocutaneous features was due to the different mutations remains unclear.  (日)    [継承]
キーワード (推奨): 1. (英) Adult (日) (読) [継承]
2. (英) DNA Mutational Analysis (日) (読) [継承]
3. (英) Female (日) (読) [継承]
4. (英) Germ-Line Mutation (日) (読) [継承]
5. (英) Hamartoma Syndrome, Multiple (日) (読) [継承]
6. (英) Humans (日) (読) [継承]
7. (英) Japan (日) (読) [継承]
8. (英) Middle Aged (日) (読) [継承]
9. (英) PTEN Phosphohydrolase (日) (読) [継承]
10. (英) Phosphoric Monoester Hydrolases (日) (読) [継承]
11. (英) Polymerase Chain Reaction (日) (読) [継承]
12. (英) Polymorphism, Single-Stranded Conformational (日) (読) [継承]
13. (英) Tumor Suppressor Proteins (日) (読) [継承]
発行所 (推奨):
誌名 (必須): The British Journal of Dermatology (British Association of Dermatologists)
(pISSN: 0007-0963, eISSN: 1365-2133)

ISSN (任意): 0007-0963
ISSN: 0007-0963 (pISSN: 0007-0963, eISSN: 1365-2133)
Title: The British journal of dermatology
Title(ISO): Br J Dermatol
Supplier: British Association of Dermatologists
Publisher: Blackwell
 (NLM Catalog  (Wiley  (Scopus  (CrossRef (Scopus information is found. [need login])
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(必須): 142 [継承]
(必須): 6 [継承]
(必須): 1100 1105 [継承]
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年月日 (必須): 西暦 2000年 6月 初日 (平成 12年 6月 初日) [継承]
URL (任意):
DOI (任意): 10.1046/j.1365-2133.2000.03533.x    (→Scopusで検索) [継承]
PMID (任意): 10848731    (→Scopusで検索) [継承]
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WOS (任意): 000088011700005 [継承]
Scopus (任意): 2-s2.0-0034100074 [継承]
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備考 (任意): 1.(英) Article.PublicationTypeList.PublicationType: Case Reports  (日)    [継承]
2.(英) Article.PublicationTypeList.PublicationType: Journal Article  (日)    [継承]
3.(英) Article.PublicationTypeList.PublicationType: Research Support, Non-U.S. Gov't  (日)    [継承]

標準的な表示

和文冊子 ● Yoshiaki Kubo, Yoshio Urano, Yasutoshi Hida, Tsuneo Ikeuchi, Masashi Nomoto, Kazufumi Kunitomo and Seiji Arase : A novel PTEN mutation in a Japanese patient with Cowden disease., The British Journal of Dermatology, Vol.142, No.6, 1100-1105, 2000.
欧文冊子 ● Yoshiaki Kubo, Yoshio Urano, Yasutoshi Hida, Tsuneo Ikeuchi, Masashi Nomoto, Kazufumi Kunitomo and Seiji Arase : A novel PTEN mutation in a Japanese patient with Cowden disease., The British Journal of Dermatology, Vol.142, No.6, 1100-1105, 2000.

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