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論文 - 一覧

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  • 検索条件 : 絞込み (MeSH = Mutation / genetics*)
生物種 リソース名 タイトル
実験動物マウス RBRC00045 Developmental abnormality contributes to cortex-dependent motor impairments and higher intracortical current requirement in the reeler homozygous mutants.
実験動物マウス RBRC02370 Loss of TMEM106B Ameliorates Lysosomal and Frontotemporal Dementia-Related Phenotypes in Progranulin-Deficient Mice.
実験動物マウス RBRC02324 Disrupted-in-schizophrenia1 (DISC1) L100P mutation alters synaptic transmission and plasticity in the hippocampus and causes recognition memory deficits.
実験動物マウス RBRC01361 Loss of p53 induces leukemic transformation in a murine model of Jak2 V617F-driven polycythemia vera.
ゼブラフィッシュ SAIGFF213A, mnr2b-hs:EGFP-TDP-43z, UAS:opTDP-43z Optogenetic TDP-43 nucleation induces persistent insoluble species and progressive motor dysfunction in vivo.
ゼブラフィッシュ SAGFF(LF)214A Zebrafish enpp1 mutants exhibit pathological mineralization, mimicking features of generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE).
ショウジョウバエ DGRC#119154 , DGRC#119155 pox-neuro is required for development of chemosensory bristles in Drosophila.
ヒト・動物細胞 CHO-K1(RCB0285) T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity.
ヒト・動物細胞 Ba/F3-CL1(RCB4474) , WEHI-3(RCB0035) , 293T(RCB2202) Landscape and function of multiple mutations within individual oncogenes.
ゼブラフィッシュ hspGFFDMC130A A genome-wide screen identifies PAPP-AA-mediated IGFR signaling as a novel regulator of habituation learning.
実験動物マウス RBRC01615 Diverse dystonin gene mutations cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in Dystonia musculorum mice.
ヒト・動物細胞 KG-1(RCB1166) DNMT3A R882 mutants interact with polycomb proteins to block haematopoietic stem and leukaemic cell differentiation.
ヒト・動物細胞 M10(RCB0136) Functional analysis of XRCC4 mutations in reported microcephaly and growth defect patients in terms of radiosensitivity.
ヒト・動物細胞 PC-9(RCB4455) DDX3X induces primary EGFR-TKI resistance based on intratumor heterogeneity in lung cancer cells harboring EGFR-activating mutations.
ヒト・動物細胞 KP4(RCB1005) Combining onartuzumab with erlotinib inhibits growth of non-small cell lung cancer with activating EGFR mutations and HGF overexpression.
ゼブラフィッシュ Tg（isl1:GFP) rw0 Investigation of Islet2a function in zebrafish embryos: Mutants and morphants differ in morphologic phenotypes and gene expression.
線虫 tm5030 , tm6659 Mutation of daf-2 extends lifespan via tissue-specific effectors that suppress distinct life-limiting pathologies.
ヒト・動物細胞 CW-2(RCB0778) Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.
ヒト・動物細胞 PC-9(RCB4455) Transient IGF-1R inhibition combined with osimertinib eradicates AXL-low expressing EGFR mutated lung cancer.
ヒト・動物細胞 TUHR4TKB(RCB1198) , TUHR10TKB(RCB1275) , TUHR14TKB(RCB1383) Hypermethylation of the RASSF1A tumor suppressor gene in Japanese clear cell renal cell carcinoma.