Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1

• Material Type: 博士論文
• Title: Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1
• Author/Editor: 竹田, 育子
• Author Heading: 竹田, 育子
• Publication Date: 2014-01-23
• Publication Date (W3CDTF): 2014-01-23
• Alternative Title: Kir2.1に新規ミスセンス変異（L94P）を認める常染色体劣性遺伝形式のAndersen-Tawil症候群
• Degree grantor/type: 広島大学
• Date Granted: 2014-01-23
• Date Granted (W3CDTF): 2014-01-23
• Dissertation Number: 甲第6277号
• Degree Type: 博士(医学); Philosophy in Medical Science
• Conferring No. (Dissertation): 甲第6277号
• Text Language Code: eng
• Alias of Author: Takeda, Ikuko
• Subject Heading: Andersen-Tawil syndrome; KCNJ2; Kir2.1; autosomal recessive; patch clamp
• NDC: 490
• Target Audience: 一般
• Note (General): Aim: Dominant negative mutations of the inwardly rectifying K+ channel Kir2.1 cause Andersen-Tawil syndrome, an autosomal dominant disorder. Here, we identified a novel Kir2.1 mutation causing autosomal recessive ATS, and explored the underlying mechanism.Methods: We sequenced the coding region of KCJN2. We assessed protein subcellular localization by transfecting cells with Kir2.1-enhanced green fluorescent protein fusions and observing them by confocal microscopy. We measured K+ currents using patch clamping. Results: We identified the novel Kir2.1 missense mutation L94P. L94P-EGFP was barely detected at the plasma membrane, in contrast to WT-EGFP and L94PEGFP+WT. The excitability of L94P-expressing cells was decreased compared with that of WT-expressing cells and L94P+WT-expressing cells (p < 0.001). Conclusions: Most L94P mutant Kir2.1 fails to reach the plasma membrane, but heterotetrameric channels comprising L94P+WT can traffic normally to the plasma membrane and generate currents. The L94P mutation is transmitted as an autosomal recessive trait.; Ikuko Takeda, Tetsuya Takahashi, Hiroki Ueno, Hiroyuki Morino, Kazuhide Ochi, Takeshi Nakamura, Naohisa Hosomi, Hideshi Kawakami, Kouichi Hashimoto and Masayasu Matsumoto; Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1; Neurology and Clinical Neuroscience, Volume 1, Issue 4, pages 131-137, July 2013 (doi: 10.1111/ncn3.38)
• Persistent ID (NDL): info:ndljp/pid/8952580; https://dl.ndl.go.jp/pid/8952580
• Collection: 障害者向け資料
• Collection (Materials For Handicapped People:1): テキストデータ
• Collection (particular): 国立国会図書館デジタルコレクション > デジタル化資料 > 博士論文; https://dl.ndl.go.jp/collections/A00014
• Acquisition Basis: 博士論文（自動収集）
• Available (W3CDTF): 2015-03-03
• Date Accepted (W3CDTF): 2015-02-03T05:25:05+09:00
• Date Created (W3CDTF): 2014-11-21
• Format (IMT): application/pdf
• Access Restrictions: 国立国会図書館内限定公開
• Service for the Digitized Contents Transmission Service: 図書館・個人送信対象外
• Availability of remote photoduplication service: 可
• Periodical Title (URI): http://ir.lib.hiroshima-u.ac.jp/00036281
• Data Provider (Database): 国立国会図書館 : 国立国会図書館デジタルコレクション; https://dl.ndl.go.jp

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2018-12-03 再収集

2018-12-03 再収集