dominantly-inherited spinocerebellar ataxia

出典: meddic

優性遺伝性脊髄小脳失調症

spinocerebellar ataxiaspinocerebellar ataxia type 1spinocerebellar ataxia type 2spinocerebellar ataxia type 4spinocerebellar ataxia type 5spinocerebellar ataxia type 6spinocerebellar ataxia type 7spinocerebellar atrophy

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

英文文献

  • Brain-specific knockdown of miR-29 results in neuronal cell death and ataxia in mice.
  • Roshan R, Shridhar S, Sarangdhar MA, Banik A, Chawla M, Garg M, Singh VP, Pillai B.
  • RNA (New York, N.Y.).RNA.2014 Aug;20(8):1287-97. doi: 10.1261/rna.044008.113. Epub 2014 Jun 23.
  • Several microRNAs have been implicated in neurogenesis, neuronal differentiation, neurodevelopment, and memory. Development of miRNA-based therapeutics, however, needs tools for effective miRNA modulation, tissue-specific delivery, and in vivo evidence of functional effects following the knockdown o
  • PMID 24958907
  • Structural basis of the phosphorylation dependent complex formation of neurodegenerative disease protein Ataxin-1 and RBM17.
  • Kim E1, Lee Y2, Choi S3, Song JJ4.
  • Biochemical and biophysical research communications.Biochem Biophys Res Commun.2014 Jul 11;449(4):399-404. doi: 10.1016/j.bbrc.2014.05.063. Epub 2014 May 22.
  • Spinocerebellar Ataxia Type1 (SCA1) is a dominantly inherited neurodegenerative disease and belongs to polyglutamine expansion disorders. The polyglutamine expansion in Ataxin-1 (ATXN1) is responsible for SCA1 pathology. ATXN1 forms at least two distinct complexes with Capicua (CIC) or RNA-binding m
  • PMID 24858692
  • Repeat-Associated Non-AUG Translation and Its Impact in Neurodegenerative Disease.
  • Kearse MG1, Todd PK.
  • Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics.Neurotherapeutics.2014 Jul 9. [Epub ahead of print]
  • Nucleotide repeat expansions underlie numerous human neurological disorders. Repeats can trigger toxicity through multiple pathogenic mechanisms, including RNA gain-of-function, protein gain-of-function, and protein loss-of-function pathways. Traditionally, inference of the underlying pathogenic mec
  • PMID 25005000

和文文献

  • 5.脊髄小脳変性症
  • 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‐
  • 脊髄小脳失調症10型の分子遺伝学的解析

関連リンク

Spinocerebellar ataxia, dominantly inherited forms is a rare disorder described in the database for rare diseases of the Swedish National Board of Health and Welfare. ... This is part of Rare diseases. Diagnosis: Spinocerebellar ...
1. Semin Neurol. 2007 Apr;27(2):133-42. Dominantly inherited ataxias: lessons learned from Machado-Joseph disease/spinocerebellar ataxia type 3. Paulson HL. Department of Neurology, University of Iowa College of Medicine, Iowa ...

関連画像

Ataxia Type 1; Spinocerebellar Ataxia Dominantly inherited ataxia and dysphonia Diagram of autosomal dominant inheritance Autosomal dominant cerebellar ataxiaSpinocerebellar ataxia inherited forms of spinocerebellar ataxia


★リンクテーブル★
先読みspinocerebellar ataxia
リンク元spinocerebellar ataxia type 1」「spinocerebellar ataxia type 4」「spinocerebellar ataxia type 6」「spinocerebellar ataxia type 7」「spinocerebellar ataxia type 2
関連記事dominant」「inherit」「ataxia」「dominantly」「inherited

spinocerebellar ataxia」

  [★] 脊髄小脳変性症 spinocerebellar degeneration SCD = SCA

spinocerebellar ataxia type 1」

  [★]

脊髄小脳失調症1型脊髄小脳変性症1型

dominantly-inherited spinocerebellar ataxiaSCA1spinocerebellar ataxiaspinocerebellar ataxia type 2spinocerebellar ataxia type 4spinocerebellar ataxia type 5spinocerebellar ataxia type 6spinocerebellar ataxia type 7spinocerebellar atrophy


spinocerebellar ataxia type 4」

  [★]

脊髄小脳失調症4型

dominantly-inherited spinocerebellar ataxiaspinocerebellar ataxiaspinocerebellar ataxia type 1spinocerebellar ataxia type 2spinocerebellar ataxia type 5spinocerebellar ataxia type 6spinocerebellar ataxia type 7spinocerebellar atrophy


spinocerebellar ataxia type 6」

  [★]

脊髄小脳失調症6型

dominantly-inherited spinocerebellar ataxiaspinocerebellar ataxiaspinocerebellar ataxia type 1spinocerebellar ataxia type 2spinocerebellar ataxia type 4spinocerebellar ataxia type 5spinocerebellar ataxia type 7spinocerebellar atrophy


spinocerebellar ataxia type 7」

  [★]

脊髄小脳失調症7型

dominantly-inherited spinocerebellar ataxiaspinocerebellar ataxiaspinocerebellar ataxia type 1spinocerebellar ataxia type 2spinocerebellar ataxia type 4spinocerebellar ataxia type 5spinocerebellar ataxia type 6spinocerebellar atrophy


spinocerebellar ataxia type 2」

  [★]

脊髄小脳失調症2型

dominantly-inherited spinocerebellar ataxiaspinocerebellar ataxiaspinocerebellar ataxia type 1spinocerebellar ataxia type 4spinocerebellar ataxia type 5spinocerebellar ataxia type 6spinocerebellar ataxia type 7spinocerebellar atrophy

dominant」

  [★]

  • adj.
  • 優性の、優位な、顕性の、優占の、支配的な、ドミナントな
dominancedominantlymanifestovertpredominancepredominantpredominantlypredominatelyprevailingsuperiorsuperiorly

WordNet   license wordnet

「exercising influence or control; "television plays a dominant role in molding public opinion"; "the dominant partner in the marriage"」

WordNet   license wordnet

「(music) the fifth note of the diatonic scale」

PrepTutorEJDIC   license prepejdic

「『支配的な』,最も有力な / (位置が)群を抜いて高い,そびえ立つ / (手・目など左右のいずれかが)力のある / (遺伝で)優性の / (音階で)第5度音の,属音の / (遺伝の)優性形質 / 第5度音,属音」

WordNet   license wordnet

「(of genes) producing the same phenotype whether its allele is identical or dissimilar」


inherit」

  [★]

hereditaryheredityinheritance

WordNet   license wordnet

「receive from a predecessor; "The new chairman inherited many problems from the previous chair"」

PrepTutorEJDIC   license prepejdic

「(…から)〈財産・権利・称号など〉‘を'『相続する』《+『名』+『from』+『名』》 / (…から)〈体質・性質など〉‘を'『受け継ぐ』《+『名』+『from』+『名』》 / (前任者・前代から)…‘を'受け継ぐ,継承ぐ,継承する《+『名』+『from』+『名』》 / 財産を相続する」

WordNet   license wordnet

「obtain from someone after their death; "I inherited a castle from my French grandparents"」

WordNet   license wordnet

「receive by genetic transmission; "I inherited my good eyesight from my mother"」


ataxia」

  [★] 運動失調

WordNet   license wordnet

「inability to coordinate voluntary muscle movements; unsteady movements and staggering gait」
ataxy, dyssynergia, motor ataxia

dominantly」

  [★]

  • adv.
  • 優性に、優位に
dominancedominantpredominancepredominantpredominantlypredominatelysuperiorsuperiorly


inherited」

  [★]

  • 遺伝性の
hereditaryheritableinheritableinheritable character




★コメント★

[メモ入力エリア]
※コメント5000文字まで
ニックネーム:
コメント:




表示
個人用ツール


  meddic.jp

リンク
連絡