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完全型先天停在性夜盲のイヌモデルの確立と機能・遺伝子解析
http://hdl.handle.net/10076/00018054
http://hdl.handle.net/10076/00018054f68b08f2-6166-46e1-ac4f-0f17260fa665
名前 / ファイル | ライセンス | アクション |
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Item type | 報告書 / Research Paper(1) | |||||
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公開日 | 2019-05-08 | |||||
タイトル | ||||||
言語 | ja | |||||
タイトル | 完全型先天停在性夜盲のイヌモデルの確立と機能・遺伝子解析 | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Establishment of dog model of congenital stationary night blindness | |||||
言語 | ||||||
言語 | jpn | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 動物モデル | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 網膜 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 夜盲 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 先天停在性夜盲 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 犬 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 網膜電図 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 遺伝 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | ERG | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_18ws | |||||
資源タイプ | research report | |||||
著者 |
近藤, 峰生
× 近藤, 峰生× 生杉, 謙吾× 杉本, 昌彦× 松原, 央 |
|||||
著者別名 |
KONDO, Mineo
× KONDO, Mineo× IKESUGI, Kengo× SUGIMOTO, Masahiko× MATSUBARA, Hisashi |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | 先天停在夜盲(CSNB)は非進行性の遺伝性網膜疾患であり、生来の夜盲を特徴とする。我々は自然発症の常染色体劣性のビーグル犬の家系を発見した。この犬は明所では正常な視覚を有するが、暗所では明らかな視機能低下がみられた。網膜電図(ERG)は陰性型を示し、長時間刺激錐体応答では、ON応答は低下しているがOFF応答は残存していた。いわゆるヒトのSchubert-Bornschein 型の完全型CSNBの犬モデルと考えられた。遺伝子検査では既知のCSNBの候補遺伝子は全てrule outされた。光学顕微鏡と電子顕微鏡では網膜形態は正常であった。我々の犬家系は世界で初めての完全型CSNBの犬モデルである。 | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Congenital stationary night blindness (CSNB) is a non-progressive, clinically and genetically heterogeneous disease of impaired night vision. We report a naturally-occurring, stationary, autosomal recessive phenotype in beagle dogs with normal daylight vision but absent night vision. Affected dogs had normal retinas on clinical examination, but showed no detectable rod responses. They had "negative-type" mixed rod and cone responses in full-field ERGs. Their photopic long-flash ERGs had normal OFF-responses associated with severely reduced ON-responses. The phenotype is similar to the Schubert-Bornschein form of complete CSNB in humans. Genetic testing ruled out most known CSNB candidates. Retinal morphology showed normal cellular layers and structure, and electron microscopy revealed normal rod spherules and synaptic ribbons. Our results indicate involvement of a yet unknown gene in this canine model of complete CSNB. | |||||
内容記述 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 2014年度~2016年度科学研究費補助金(基盤研究(C))研究成果報告書 | |||||
書誌情報 |
発行日 2017-05-19 |
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フォーマット | ||||||
内容記述タイプ | Other | |||||
内容記述 | application/pdf | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
出版者 | ||||||
出版者 | 三重大学 | |||||
出版者(ヨミ) | ||||||
ミエダイガク | ||||||
科研費番号 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 26462683 | |||||
資源タイプ(三重大) | ||||||
Kaken / 科研費報告書 |