『徳島大学 教育・研究者情報データベース (EDB)』---[学外] /
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登録内容 (EID=193866)

EID=193866EID:193866, Map:0, LastModified:2016年9月6日(火) 18:12:08, Operator:[大家 隆弘], Avail:TRUE, Censor:0, Owner:[安井 夏生], 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):
学究種別 (推奨):
組織 (推奨):
著者 (必須): 1. (英) Fujita Yoshi (日) (読)
役割 (任意):
貢献度 (任意):
学籍番号 (推奨):
[継承]
2. (英) Nakata Ken (日) (読)
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学籍番号 (推奨):
[継承]
3.安井 夏生
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学籍番号 (推奨):
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4.松井 好人
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学籍番号 (推奨):
[継承]
5. (英) Kataoka Eiichiro (日) (読)
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学籍番号 (推奨):
[継承]
6. (英) Hiroshima Kazuo (日) (読)
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学籍番号 (推奨):
[継承]
7. (英) Shibata Ryoichi (日) (読)
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学籍番号 (推奨):
[継承]
8. (英) Ochi Takahiro (日) (読)
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学籍番号 (推奨):
[継承]
題名 (必須): (英) Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization.  (日)    [継承]
副題 (任意):
要約 (任意): (英) Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, osteosclerosis, acroosteolysis, bone fragility, and skull deformities. Recently, mutations in the gene encoding cathepsin K (CK), a lysosomal cysteine protease localized exclusively in osteoclasts, were found to be responsible for this disease. We analyzed genomic DNA from four unrelated Japanese patients with this disorder and identified three different mutations of their CK genes: a previously reported missense mutation (A277 V), a novel single base deletion mutation (531 del T) causing a frame shift from codon 142 that results in a premature termination codon, and a novel missense mutation (L9P) in the signal peptide region. To investigate whether the L9P mutation disrupts signal peptide function and decreases protein synthesis, mutant and wild-type CK complementary DNAs driven by the cytomegalovirus promoter were transfected into COS-7 cells, and their gene products were detected by immunohistochemistry and Western blotting. Expression of the mutant protein was markedly reduced, suggesting decreased mature CK production in this patient, which may have been due to dysfunction of the signal peptide. These results provide evidence that a structural change in the signal peptide of the CK protein was involved in the pathogenesis of pycnodysostosis.  (日)    [継承]
キーワード (推奨): 1. (英) Adult (日) (読) [継承]
2. (英) Amino Acid Substitution (日) (読) [継承]
3. (英) Animals (日) (読) [継承]
4. (英) Blotting, Western (日) (読) [継承]
5. (英) Bone and Bones (日) (読) [継承]
6. (英) COS Cells (日) (読) [継承]
7. (英) Cathepsin K (日) (読) [継承]
8. (英) Cathepsins (日) (読) [継承]
9. (英) DNA (日) (読) [継承]
10. (英) Epitopes (日) (読) [継承]
11. (英) Female (日) (読) [継承]
12. (英) Humans (日) (読) [継承]
13. (英) Immunohistochemistry (日) (読) [継承]
14. (英) Male (日) (読) [継承]
15. (英) Middle Aged (日) (読) [継承]
16. (英) Mutation (日) (読) [継承]
17. (英) Osteosclerosis (日) (読) [継承]
18. (英) Pedigree (日) (読) [継承]
19. (英) Protein Sorting Signals (日) (読) [継承]
20. (英) RNA, Messenger (日) (読) [継承]
21. (英) Reverse Transcriptase Polymerase Chain Reaction (日) (読) [継承]
発行所 (推奨):
誌名 (必須): The Journal of Clinical Endocrinology and Metabolism ([The Endocrine Society])
(pISSN: 0021-972X, eISSN: 1945-7197)

ISSN (任意): 0021-972X
ISSN: 0021-972X (pISSN: 0021-972X, eISSN: 1945-7197)
Title: The Journal of clinical endocrinology and metabolism
Title(ISO): J Clin Endocrinol Metab
Publisher: Endocrine Society
 (NLM Catalog  (Scopus  (CrossRef (Scopus information is found. [need login])
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(必須): 85 [継承]
(必須): 1 [継承]
(必須): 425 431 [継承]
都市 (任意):
年月日 (必須): 西暦 2000年 1月 初日 (平成 12年 1月 初日) [継承]
URL (任意):
DOI (任意): 10.1210/jcem.85.1.6247    (→Scopusで検索) [継承]
PMID (任意): 10634420    (→Scopusで検索) [継承]
NAID (任意):
WOS (任意):
Scopus (任意): 2-s2.0-0034455459 [継承]
評価値 (任意):
被引用数 (任意):
指導教員 (推奨):
備考 (任意): 1.(英) Article.PublicationTypeList.PublicationType: Clinical Trial  (日)    [継承]
2.(英) Article.PublicationTypeList.PublicationType: Journal Article  (日)    [継承]

標準的な表示

和文冊子 ● Yoshi Fujita, Ken Nakata, Natsuo Yasui, Yoshito Matsui, Eiichiro Kataoka, Kazuo Hiroshima, Ryoichi Shibata and Takahiro Ochi : Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization., The Journal of Clinical Endocrinology and Metabolism, Vol.85, No.1, 425-431, 2000.
欧文冊子 ● Yoshi Fujita, Ken Nakata, Natsuo Yasui, Yoshito Matsui, Eiichiro Kataoka, Kazuo Hiroshima, Ryoichi Shibata and Takahiro Ochi : Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization., The Journal of Clinical Endocrinology and Metabolism, Vol.85, No.1, 425-431, 2000.

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