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  • Search Condition : Filter (MeSH = Point Mutation*)
生物種 リソース名 タイトル
酵母 FY13012 , FY9954 A point mutation in the FAT domain constitutively increases the kinase activity of Rad3ATR and bypasses the requirement for 9-1-1 phosphorylation to activate the DNA replication checkpoint.
実験動物マウス RBRC02290 iPS cell generation-associated point mutations include many C > T substitutions via different cytosine modification mechanisms.
ヒト・動物細胞 HuH-7(RCB1942) A rare point mutation in the Ras oncogene in hepatocellular carcinoma.
ヒト・動物細胞 ASF-4-3L(RCB3580) A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes.
ツメガエル・イモリ Pleurodeles waltl Two single-point mutations in Ankyrin Repeat one drastically change the threshold temperature of TRPV1.
ヒト・動物細胞 HL60(RCB0041) , MOLT-4(RCB0206) [Low incidence of point mutation of N-ras oncogene in human gliomas].
メダカ , ヒト・動物細胞 Medaka TILLING Mutant , Nagoya (WS3) , CHO-K1(RCB0285) A point-mutation in the C-domain of CMP-sialic acid synthetase leads to lethality of medaka due to protein insolubility.
遺伝子材料 Target BFP gene expression plasmid (RDB19359) , pCS2+MT-MS2HB-APOBEC1 (RDB19360) , MS2-guideRNA21bp (RDB19361) RNA editing of BFP, a point mutant of GFP, using artificial APOBEC1 deaminase to restore the genetic code.
ヒト・動物細胞 293T(RCB2202) Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay.
ヒト・動物細胞 Saos-2(RCB0428) Inhibition of mutant p53 phosphorylation at serine 15 or serine 315 partially restores the function of wild-type p53.
一般微生物 JCM10080 Novel Point Mutations in cyp51A and cyp51B Genes Associated with Itraconazole and Posaconazole Resistance in Aspergillus clavatus Isolates.
病原真核微生物 IFM 60516 , IFM 58402 , IFM 51977 , IFM 60065 , IFM 61960 , IFM 51748 , IFM 62821 , IFM 64259 , IFM 63666 , IFM 63224 , ... A Simple Method To Detect Point Mutations in Aspergillus fumigatus cyp51A Gene Using a Surveyor Nuclease Assay.
ヒト・動物細胞 Hep G2(RCB1648) A substitution in the pre-S1 promoter region is associated with the viral regulation of hepatitis B virus.
原核生物(大腸菌) Point mutations in Escherichia coli DNA pol V that confer resistance to non-cognate DNA damage also alter protein-protein interactions.
線虫 tm324 The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans.
ヒト・動物細胞 PANC-1(RCB2095) Novel Methodology for Rapid Detection of KRAS Mutation Using PNA-LNA Mediated Loop-Mediated Isothermal Amplification.
実験動物マウス RBRC01934 A new missense mutation in the paired domain of the mouse Pax3 gene.
病原微生物 IFM 10152 , IFM 10580 , IFM 10848 , IFM 10849 , IFM 10850 , IFM 10851 Homozygous triplicate mutations in three 16S rRNA genes responsible for high-level aminoglycoside resistance in Nocardia farcinica clinical isolates from a Canada-wide bovine mastitis epizootic.
線虫 tm1582 , tm1502 An EDMD mutation in C. elegans lamin blocks muscle-specific gene relocation and compromises muscle integrity.
ヒト・動物細胞 MCF7(RCB1904) The single N-glycan deletion mutant of soluble ErbB3 protein attenuates heregulin β1-induced tumor progression by blocking of the HIF-1 and Nrf2 pathway.