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8 Hits
検索条件 : 絞込み (MeSH = Mutation* / 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
オルトメトリクス指標
ゼブラフィッシュ
UAS:GFP, UAS:GCaMP6s
89876
Functional impact of the ATP1A3-p.A813V variant: insights into a calcium-driven hyperexcitability cascade in rapid-onset dystonia-Parkinsonism.
J Transl Med
2026-5-11
Pubmed
Full text
線虫
tm5913
88145
Mutations in mitochondrial ferredoxin FDX2 suppress frataxin deficiency.
Nature
2026-1-1
Pubmed
Full text
線虫
tm6026
88080
Identification of presenilin mutations that have sufficient gamma-secretase proteolytic activity to mediate Notch signaling but disrupt organelle and neuronal health.
Neurobiol Dis
2025-8-1
Pubmed
Full text
実験動物マウス
RBRC01145
86814
Analysis of Eya1 and Tbx1 mutants highlights interactions between the muscle and developing cartilage during external ear formation.
Development
2026-2-1
Pubmed
Full text
実験動物マウス
RBRC02344
86161
Mutant RIT1 cooperates with YAP to drive an EMT-like lung cancer state.
Cell Rep
2025-10-28
Pubmed
Full text
ヒト・動物細胞
Ba/F3(RCB4476)
85798
Efficacy of Conventional and Novel Tyrosine Kinase Inhibitors for Uncommon
EGFR
Mutations-An In Vitro Study.
Cells
2025-9-4
Pubmed
Full text
線虫
tm2261
84049
Forward genetic screen of the C. elegans million mutation library reveals essential, cell-autonomous contributions of BBSome proteins to dopamine signaling.
J Neurochem
2024-9-1
Pubmed
Full text
ヒト・動物細胞
RBE(RCB1292)
,
HuCCT1(RCB1960)
79440
SRC inhibition enables formation of a growth suppressive MAGI1-PP2A complex in isocitrate dehydrogenase-mutant cholangiocarcinoma.
Sci Transl Med
2024-5-15
Pubmed
Full text