CAGリピート病
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
- 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(∥: :∥)
- (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)
- California
UpToDate Contents
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English Journal
- Detection of huntingtin exon 1 phosphorylation by Phos-Tag SDS-PAGE: Predominant phosphorylation on threonine 3 and regulation by IKKβ.
- Bustamante MB1, Ansaloni A2, Pedersen JF1, Azzollini L1, Cariulo C1, Wang ZM2, Petricca L1, Verani M1, Puglisi F1, Park H3, Lashuel H2, Caricasole A4.
- Biochemical and biophysical research communications.Biochem Biophys Res Commun.2015 Aug 7;463(4):1317-22. doi: 10.1016/j.bbrc.2015.06.116. Epub 2015 Jun 21.
- Expansion of a CAG triplet repeat within the first exon of the HUNTINGTIN gene encoding for a polyglutamine tract is the cause of a progressive neurodegenerative disorder known as Huntington's disease. N-terminal fragments of mutant huntingtin have a strong propensity to form oligomers and aggregate
- PMID 26106822
- The impairment of cholesterol metabolism in Huntington disease.
- Leoni V1, Caccia C2.
- Biochimica et biophysica acta.Biochim Biophys Acta.2015 Aug;1851(8):1095-1105. doi: 10.1016/j.bbalip.2014.12.018. Epub 2015 Jan 14.
- Huntington disease (HD), an autosomal dominant neurodegenerative disorder caused by an abnormal expansion of CAG trinucleotide repeat in the Huntingtin (HTT) gene, is characterized by extensive neurodegeneration of striatum and cortex and severe diffuse atrophy at MRI. The expression of genes involv
- PMID 25596342
- DnaJ-1 and karyopherin α3 suppress degeneration in a new Drosophila model of Spinocerebellar Ataxia Type 6.
- Tsou WL1, Hosking RR1, Burr AA2, Sutton JR1, Ouyang M1, Du X3, Gomez CM3, Todi SV4.
- Human molecular genetics.Hum Mol Genet.2015 Aug 1;24(15):4385-96. doi: 10.1093/hmg/ddv174. Epub 2015 May 7.
- Spinocerebellar ataxia type 6 (SCA6) belongs to the family of CAG/polyglutamine (polyQ)-dependent neurodegenerative disorders. SCA6 is caused by abnormal expansion in a CAG trinucleotide repeat within exon 47 of CACNA1A, a bicistronic gene that encodes α1A, a P/Q-type calcium channel subunit and a
- PMID 25954029
Japanese Journal
- Spinocerebellar Ataxia Type 7: Report of a New Italian Family
- Italiano Domenico,Tarantino Patrizia,Valeria De Marco Elvira,Salvatore Calabrò Rocco,Bramanti Placido,Quattrone Aldo,Annesi Grazia
- Internal Medicine 51(20), 2953-2955, 2012
- … A molecular analysis identified 38 cytosine-adenine-guanine (CAG) repeat expansions within the SCA7 gene. … In this family, the disease is most likely caused by a de novo expansion of a premutated intermediate allele carried by one parent. …
- NAID 130002062092
- Three Spinocerebellar Ataxia Type 2 Siblings with Ataxia, Parkinsonism, and Motor Neuronopathy
- Nishikawa Noriko,Nagai Masahiro,Tsujii Tomoaki,Tanabe Nachi,Takashima Hiroshi,Nomoto Masahiro
- Internal Medicine 50(13), 1429-1432, 2011
- … Spinocerebellar ataxia type 2 (SCA2) represents a family of dominant neurodegenerative disorders that results from CAG expansion repeat mutations. … Genetic examination revealed expansion to 42, 43, and 42 CAG repeats. … The SCA2 gene should be studied in families with heterogeneous neurodegenerative disorders, including motor neuron disease. …
- NAID 130000770521
- Direct and accurate measurement of CAG repeat configuration in the ataxin-1 (ATXN-1) gene by "dual-fluorescence labeled PCR-restriction fragment length analysis"
- Lin Jiang X.,Ishikawa Kinya,Sakamoto Masaki [他],TSUNEMI Taiji,ISHIGURO Taro,AMINO Takeshi,SHUTA Toru,KONDO Ikuko,MIZUSAWA Hidehiro
- Journal of human genetics 53(4), 287-295, 2008-04-01
- NAID 10021248419
Related Links
- トリプレットリピート病とは? 遺伝子の塩基配列のうちCAGなどの3塩基単位(トリプレット)が、CGACGACGACGACGACGA・・・・・のように連続して繰り返し配列することを トリプレットリピート(triplet repeat) という。この繰り返しの回数に ...
- Definition of CAG repeat disease in the Medical Dictionary. CAG repeat disease explanation. Information about CAG repeat disease in Free online English dictionary. What is CAG repeat disease? Meaning of CAG repeat disease ...
★リンクテーブル★
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- 英
- CAG repeat disease, expanded CAG-repeat disease
- 同
- ポリグルタミン病 polyglutamine disease
- 関
- トリプレットリピート病
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- 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
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- 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.
- 関
- ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness
- disease ≠ illness ≠ disorder
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- 関
- iteration、recursion、reiterate、reiteration、reiterative、repeatedly、repetition、repetitive、repetitively、replicate
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