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  • 検索条件 : 絞込み (MeSH = Charcot-Marie-Tooth Disease / genetics*)
生物種 リソース名 RRC ID タイトル ジャーナル 公開日 外部リンク
線虫 tm700 65175 Disruption of genes associated with Charcot-Marie-Tooth type 2 lead to common behavioural, cellular and molecular defects in Caenorhabditis elegans. PLoS One 2020-1-1 Pubmed Full text
ショウジョウバエ 57174 Loss-of-function mutation in Hippo suppressed enlargement of lysosomes and neurodegeneration caused by dFIG4 knockdown. Neuroreport 2018-7-4 Pubmed Full text
ショウジョウバエ 57166 Genetic screening of the genes interacting with Drosophila FIG4 identified a novel link between CMT-causing gene and long noncoding RNAs. Exp Neurol 2018-12-1 Pubmed Full text
ヒト・動物細胞 HEV0031 , HEV0032 , HEV0038 , HEV0041 45247 A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. Am J Hum Genet 2014-9-4 Pubmed Full text
ショウジョウバエ 4561R-1 , 4561R-2 11099 Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy. Proc Natl Acad Sci U S A 2009-7-14 Pubmed Full text
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