| ○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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| ○審査 (推奨): |
| ○カテゴリ (推奨): |
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| ○学究種別 (推奨): |
| ○組織 (推奨): |
| ○著者 (必須): | 1. | (英) Christianto Antonius (日) (読)
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| 2. | 片山 将一 ([徳島大学.大学院医歯薬学研究部.薬学域.先端薬学教育研究プロジェクト]/[徳島大学.大学院医歯薬学研究部.薬学域.薬科学部門.生命薬学系.医薬品病態生化学])
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| 3. | (英) Kameshita Isamu (日) (読)
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| 4. | (英) Inazu Tetsuya (日) (読)
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| ○題名 (必須): | □ | (英) A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome. (日)
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| ○要約 (任意): | □ | (英) Rett syndrome (RTT) is a severe X-linked dominant inheritance disorder with a wide spectrum of clinical manifestations. Mutations in Methyl CpG binding protein 2 (MECP2), Cyclin dependent kinase-like 5 (CDKL5) and Forkhead box G1 (FOXG1) have been associated with classic and/or variant RTT. This study was conducted to identify the responsible gene(s) in atypical RTT patient, and to examine the effect of the mutation on protein function. DNA sequence analysis showed a novel heterozygous mutation in CDKL5 identified as c.530A>G which resulted in an amino acid substitution at position 177, from tyrosine to cysteine. Genotyping analysis indicated that the mutation was not merely a single nucleotide polymorphism (SNP). We also revealed that patient's blood lymphocytes had random X-chromosome inactivation (XCI) pattern. Further examination by bioinformatics analysis demonstrated the mutation caused damage or deleterious in its protein. In addition, we demonstrated in vitro kinase assay of mutant protein showed impairment of its activity. Taken together, the results suggested the mutant CDKL5 was responsible for the disease. (日)
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| ○キーワード (推奨): | 1. | (英) Female (日) (読)
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| 2. | (英) Humans (日) (読)
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| 3. | (英) Japan (日) (読)
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| 4. | (英) Middle Aged (日) (読)
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| 5. | (英) Mutation (日) (読)
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| 6. | (英) Protein-Serine-Threonine Kinases (日) (読)
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| 7. | (英) Rett Syndrome (日) (読)
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| ○発行所 (推奨): |
| ○誌名 (必須): | □ | Clinica Chimica Acta ([Elsevier])
(pISSN: 0009-8981, eISSN: 1873-3492)
| ○ISSN (任意): | □ | 1873-3492
ISSN: 0009-8981
(pISSN: 0009-8981, eISSN: 1873-3492) Title: Clinica chimica acta; international journal of clinical chemistryTitle(ISO): Clin Chim ActaPublisher: Elsevier B.V. (NLM Catalog)
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(CrossRef)
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| ○巻 (必須): | □ | 459
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| ○号 (必須): |
| ○頁 (必須): | □ | 132 136
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| ○都市 (任意): |
| ○年月日 (必須): | □ | 西暦 2016年 6月 2日 (平成 28年 6月 2日)
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| ○URL (任意): |
| ○DOI (任意): | □ | 10.1016/j.cca.2016.06.003 (→Scopusで検索)
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| ○PMID (任意): | □ | 27265524 (→Scopusで検索)
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| ○備考 (任意): | 1. | (英) PublicationType: Case Reports (日)
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| 2. | (英) PublicationType: Journal Article (日)
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