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  • 検索条件 : 絞込み (MeSH = Gain of Function Mutation*)
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
ショウジョウバエ DGRC#115336 70797 Short and long sleeping mutants reveal links between sleep and macroautophagy. Elife 2021-6-4 Pubmed Full text
ショウジョウバエ DGRC#108284 70782 Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant. Hum Genet 2022-2-1 Pubmed Full text
ヒト・動物細胞 CW-2(RCB0778) 67347 Co-occurring gain-of-function mutations in HER2 and HER3 modulate HER2/HER3 activation, oncogenesis, and HER2 inhibitor sensitivity. Cancer Cell 2021-8-9 Pubmed Full text
ヒト・動物細胞 293(RCB1637) , 293T(RCB2202) 66849 Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes. J Clin Invest 2021-2-15 Pubmed Full text
ヒト・動物細胞 HCT116(RCB2979) 63230 Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT. PLoS One 2020-1-1 Pubmed Full text
ショウジョウバエ 61046 Microtubule affinity-regulating kinase 4 with an Alzheimer's disease-related mutation promotes tau accumulation and exacerbates neurodegeneration. J Biol Chem 2020-12-11 Pubmed Full text
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