| ○種別 (必須): | □ | 学術論文 (審査論文)
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| ○言語 (必須): | □ | 英語
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| ○著者 (必須): | 1. | 瓦井 俊孝 ([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.臨床神経科学])
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| 2. | (英) Miyamoto Ryosuke (日) (読)
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| 3. | (英) Mori Atsuko (日) (読)
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| 4. | (英) Oki Ryosuke (日) (読)
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| 5. | (英) Tsukamoto-Miyashiro Ai (日) (読)
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| 6. | 松井 尚子 ([徳島大学.大学院医歯薬学研究部.医学域.医科学部門.社会医学系.医療教育学])
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| 7. | 宮﨑 由道
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| 8. | (英) Orlacchio Antonio (日) (読)
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| 9. | 和泉 唯信 ([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.臨床神経科学]/[徳島大学.病院.診療科.内科.脳神経内科])
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| 10. | (英) Nishida Yoshihiko (日) (読)
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| 11. | 梶 龍兒
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| ○題名 (必須): | □ | (英) Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation. (日)
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| ○要約 (任意): | □ | (英) We identified a novel homozygous mutation in the splice site donor (SSD) of intron 30 (c.5866+1G>A) in consanguineous Japanese SPG11 siblings showing late-onset spastic paraplegia using the whole-exome sequencing. Phenotypic variability was observed, including age-at-onset, dysarthria and pes cavus. Coding DNA sequencing revealed that the mutation affected the recognition of the constitutive SSD of intron 30, splicing upstream onto a nearby cryptic SSD in exon 30. The use of constitutive splice sites of intron 29 was confirmed by sequencing. The mutant transcripts are mostly subject to degradation by the nonsense-mediated mRNA decay system. SPG11 transcripts, escaping from the nonsense-mediated mRNA decay pathway, would generate a truncated protein (p.Tyr1900Phefs5X) containing the first 1899 amino acids and followed by 4 aberrant amino acids. This study showed a successful clinical application of whole-exome sequencing in spastic paraplegia and demonstrated a further evidence of allelic heterogeneity in SPG11. The confirmation of aberrant transcript by splice site mutation is a prerequisite for a more precise molecular diagnosis. (日)
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| ○誌名 (必須): | □ | Journal of the Neurological Sciences (World Federation of Neurology)
(pISSN: 0022-510X, eISSN: 1878-5883)
| ○ISSN (任意): | □ | 1878-5883
ISSN: 0022-510X
(pISSN: 0022-510X, eISSN: 1878-5883) Title: Journal of the neurological sciencesTitle(ISO): J Neurol SciPublisher: Elsevier BV (NLM Catalog)
(Scopus)
(CrossRef)
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| ○巻 (必須): | □ | 359
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| ○号 (必須): | □ | 1-2
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| ○頁 (必須): | □ | 250 255
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| ○都市 (任意): |
| ○年月日 (必須): | □ | 西暦 2015年 10月 30日 (平成 27年 10月 30日)
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| ○URL (任意): |
| ○DOI (任意): | □ | 10.1016/j.jns.2015.10.045 (→Scopusで検索)
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| ○PMID (任意): | □ | 26671123 (→Scopusで検索)
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| ○備考 (任意): | 1. | (英) PublicationType: Journal Article (日)
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