- CAG配列の異常伸長が・リグルタミン鎖を形成することによる疾患
WordNet
- do over; "They would like to take it over again" (同)take_over
- an event that repeats; "the events today were a repeat of yesterdays" (同)repetition
- to say again or imitate; "followers echoing the cries of their leaders" (同)echo
- to say, state, or perform again; "She kept reiterating her request" (同)reiterate, ingeminate, iterate, restate, retell
- make bigger or wider in size, volume, or quantity; "expand the house by adding another wing"
- become larger in size or volume or quantity; "his business expanded rapidly"
- extend in one or more directions; "The dough expands" (同)spread out
- an impairment of health or a condition of abnormal functioning
- the 3rd letter of the Roman alphabet (同)c
- (music) the keynote of the scale of C major
- a general-purpose programing language closely associated with the UNIX operating system
- caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
PrepTutorEJDIC
- 〈自分がすでに一度言ったこと)‘を'『繰り返して言う』 / 〈他人の言ったこと〉‘を'おうむ返しに言う;…‘を'他の人に繰り返して言う / …‘を'『暗記して言う』,暗唱する / …‘を'繰り返して行う(do again) / (食べたあとで)〈食物の〉味が残る / 〈小数が〉循環する / 繰り返すこと,反復すること / 繰り返されるもの,(公演の)再演;(番組の)再放送 / 反復楽節;反復記号(∥: :∥)
- (…にまで)『拡大する』,膨張する,広がる《+『into』+『名』》 / (…について)さらに詳しく述べる《+『on』(『upon』)+『名』》 / 〈人が〉打ち解ける,心を開く / …‘を'『拡大する』,拡張する,広げる;…‘を'拡大して(…に)する《+『名』+『into』+『名』》
- (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
- 女性の話術芸人 =diseur
- carbonの化学記号
- 病気にかかった / 病的な,不健全な(morbid)
UpToDate Contents
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- 1. 定量的冠動脈造影：臨床応用 quantitative coronary angiography clinical applications
- 2. ハンチントン病：遺伝学と病因 huntington disease genetics and pathogenesis
- 3. 診断的心臓カテーテル検査の合併症 complications of diagnostic cardiac catheterization
- 4. 脊髄小脳変性症 the spinocerebellar ataxias
- 5. 若年男女における冠動脈疾患および心筋梗塞 coronary heart disease and myocardial infarction in young men and women
English Journal
- Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy.
- Lee JM, Galkina EI, Levantovsky RM, Fossale E, Anne Anderson M, Gillis T, Srinidhi Mysore J, Coser KR, Shioda T, Zhang B, Furia MD, Derry J, Kohane IS, Seong IS, Wheeler VC, Gusella JF, Macdonald ME.AbstractIn Huntington's disease (HD), the size of the expanded HTT CAG repeat mutation is the primary driver of the processes that determine age at onset of motor symptoms. However, correlation of cellular biochemical parameters also extends across the normal repeat range, supporting the view that the CAG repeat represents a functional polymorphism with dominant effects determined by the longer allele. A central challenge to defining the functional consequences of this single polymorphism is the difficulty of distinguishing its subtle effects from the multitude of other sources of biological variation. We demonstrate that an analytical approach based upon continuous correlation with CAG size was able to capture the modest (∼21%) contribution of the repeat to the variation in genome-wide gene expression in 107 lymphoblastoid cell lines, with alleles ranging from 15 to 92 CAGs. Furthermore, a mathematical model from an iterative strategy yielded predicted CAG repeat lengths that were significantly positively correlated with true CAG allele size and negatively correlated with age at onset of motor symptoms. Genes negatively correlated with repeat size were also enriched in a set of genes whose expression were CAG-correlated in human HD cerebellum. These findings both reveal the relatively small, but detectable impact of variation in the CAG allele in global data in these peripheral cells and provide a strategy for building multi-dimensional data-driven models of the biological network that drives the HD disease process by continuous analysis across allelic panels of neuronal cells vulnerable to the dominant effects of the HTT CAG repeat.
- Human molecular genetics.Hum Mol Genet.2013 Aug 15;22(16):3227-38. doi: 10.1093/hmg/ddt176. Epub 2013 Apr 16.
- In Huntington's disease (HD), the size of the expanded HTT CAG repeat mutation is the primary driver of the processes that determine age at onset of motor symptoms. However, correlation of cellular biochemical parameters also extends across the normal repeat range, supporting the view that the CAG r
- PMID 23595883
- Mechanisms of RNA-induced toxicity in CAG repeat disorders.
- Nalavade R, Griesche N, Ryan DP, Hildebrand S, Krau S.SourceGerman Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
- Cell death & disease.Cell Death Dis.2013 Aug 1;4:e752. doi: 10.1038/cddis.2013.276.
- Several inherited neurodegenerative disorders are caused by CAG trinucleotide repeat expansions, which can be located either in the coding region or in the untranslated region (UTR) of the respective genes. Polyglutamine diseases (polyQ diseases) are caused by an expansion of a stretch of CAG repeat
- PMID 23907466
- CNR1 variation is associated with the age at onset in Huntington disease.
- Kloster E, Saft C, Epplen JT, Arning L.SourceDepartment of Human Genetics, Ruhr-University Bochum, Germany; International Graduate School of Neuroscience, Ruhr-University Bochum, Germany.
- European journal of medical genetics.Eur J Med Genet.2013 Jun 7. pii: S1769-7212(13)00125-0. doi: 10.1016/j.ejmg.2013.05.007. [Epub ahead of print]
- Huntington disease (HD) is caused by the expansion of a CAG repeat within exon 1 of the HTT gene. Although the variation in age at onset (AO) is partly explained by the length of the expanded repeat blocks, the unexplained variation in AO is highly heritable, emphasizing the role of modifier genes o
- PMID 23747361
Japanese Journal
- 球脊髄性筋萎縮症（SBMA）に対する抗アンドロゲン療法
- 勝野 雅央,坂野 晴彦,鈴木 啓介,橋詰 淳,足立 弘明,田中 章景,祖父江 元
- 臨床神経学 52(11), 1207-1209, 2012
- … 球脊髄性筋萎縮症（SBMA）はアンドロゲン受容体（AR）遺伝子におけるCAGくりかえし塩基配列の異常延長を原因とする運動ニューロン疾患であり，伸長ポリグルタミン鎖を有する異常AR蛋白質がテストステロンと結合することによってニューロンの核内に蓄積することが病態の本質と考えられている．テストステロンの分泌を抑制するリュープロレリン酢酸塩のSBMAに対する第III相臨床試験では，主要評価項目である咽頭部 …
- NAID 130004505107
- シンポジウム０３‐４ 神経難病の克服‐単一遺伝子病からのアプローチ‐ ＳＣＡ６‐原因の同定から治療法の開発に向けて‐
- 渡瀬 啓,石川 欽也,水澤 英洋
- 臨床神経学 50(11), 858-860, 2010
- … Molecular pathogenesis of SCA6 has been attracting considerable attention since it is caused by small CAG repeat expansions within the Cav2.1 voltage-gated Ca++ channel gene (CACNA1A). … Evidence indicates that the SCA6 mutation does not directly change the basic properties of the channel but rather exerts neurotoxicity through a mechanism associated with age-dependent accumulation of the expanded polyglutamine protein. …
- NAID 130004504657
- 神経疾患の遺伝子解析
- 辻 省次
- 脳神経外科ジャーナル 8(1), 26-32, 1999-01-20
- … トリピート病は神経変性疾患に普遍的な発症機構であるとして注目を集めている.トリプレットリピート病は3塩基の繰り返し配列が伸長することにより発症する疾患である.なかでもCAGリピートの伸長による疾患では, CAGリピートがコードするポリグルタミンが細胞内で凝集体を形成し細胞障害をもたらすと考えられ, ポリグルタミンの凝集, あるいは毒性作用を緩和することにより治療法開発への道 …
- NAID 110003813289
Related Links
- Currently, nine neurologic disorders are known to be caused by an increased number of CAG repeats, typically in coding regions of otherwise unrelated proteins. During protein synthesis, the expanded CAG ...
- A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Koide R, Kobayashi S, Shimohata T, Ikeuchi T, Maruyama M, Saito M, Yamada M, Takahashi H, Tsuji ...
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★リンクテーブル★
| リンク元 | 「CAGリピート病」 |
| 関連記事 | 「disease」「expand」「C」「repeat」「CA」 |
「CAGリピート病」
「disease」
- n.
- 疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
- 特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
- something that is very wrong with people's attitudes, way of life or with society.
- 注意
「expand」
- v.
- 拡大する、膨張する、広がる、発展する、(ペプチド鎖などが)伸長する
- 関
- develop、development、dilatation、dilate、dilation、distend、distention、elongate、elongation、enlarge、enlargement、evolution、expansion、extend、extension、inflate、inflation、magnify、outgrowth、spread、stretch、swell、swelling
「C」
- 炭素 carbon
- シトシン cytosine
- システイン cysteine
- シチジン
- セルシウス度 摂氏 degrees Celsius degree C
- 産婦人科領域で「子宮外頚 子宮外頚部 exocervix」を表現するための略語
「repeat」
- n.
- v.
- 反復する、繰り返す
- 関
- iteration、recursion、reiterate、reiteration、reiterative、repeatedly、repetition、repetitive、repetitively、replicate
「CA」
- カテコールアミン catecholamine
- 癌 cancer carcinoma
- 炭酸脱水酵素 carbonic anhydrase
- 生活年齢 chronological age
- 糖鎖抗原 carbohydrate antigen