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論文 - 一覧

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  • 検索条件 : 絞込み (MeSH = Mutation, Missense*)
生物種 リソース名 タイトル
ヒト・動物細胞 MCF7(RCB1904) Suppression of heregulin β signaling by the single N-glycan deletion mutant of soluble ErbB3 protein.
ヒト・動物細胞 293T(RCB2202) Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defects.
ヒト・動物細胞 HCT116(RCB2979) Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution.
ヒト・動物細胞 Ba/F3 Cancer-associated missense mutations enhance the pluripotency reprogramming activity of OCT4 and SOX17.
ヒト・動物細胞 293T(RCB2202) , MDCK(RCB0995) Identification of polymerase gene mutations that affect viral replication in H5N1 influenza viruses isolated from pigeons.
ヒト・動物細胞 HuH-7(RCB1942) The fibrous form of intracellular inclusion bodies in recombinant variant fibrinogen-producing cells is specific to the hepatic fibrinogen storage disease-inducible variant fibrinogen.
ヒト・動物細胞 293(RCB1637) Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia.
線虫 tm2452 , tm925 Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans.
ヒト・動物細胞 293(RCB1637) Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation.
ヒト・動物細胞 293T(RCB2202) V-ATPase a3 isoform mutations identified in osteopetrosis patients abolish its expression and disrupt osteoclast function.
ゼブラフィッシュ hspGFF3A Mutant KCNJ3 and KCNJ5 Potassium Channels as Novel Molecular Targets in Bradyarrhythmias and Atrial Fibrillation.
ヒト・動物細胞 TE-1(RCB1894) , TE-4(RCB2097) , TE-5(RCB1949) , TE-6(RCB1950) , TE-8(RCB2098) , TE-9(RCB1988) , TE-10(RCB2099) , TE-11(RCB2100) , TE-14(RCB2101) PRIMA-1 induces p53-mediated apoptosis by upregulating Noxa in esophageal squamous cell carcinoma with TP53 missense mutation.
ヒト・動物細胞 HeLa(RCB0007) Effects of mismatches distant from the target position on gene correction with a 5'-tailed duplex.
ヒト・動物細胞 293T(RCB2202) A PB1-K577E Mutation in H9N2 Influenza Virus Increases Polymerase Activity and Pathogenicity in Mice.
ヒト・動物細胞 COS-7(RCB0539) A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings.
原核生物(大腸菌) Impact of Mutating the Key Residues of a Bifunctional 5,10-Methylenetetrahydrofolate Dehydrogenase-Cyclohydrolase from Escherichia coli on Its Activities.
ヒト・動物細胞 CACO-2(RCB0988) Phosphorylation of Ser-525 in βPix impairs Nox1-activating ability in Caco-2 cells.
ヒト・動物細胞 293T(RCB2202) Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.
線虫 tm373 Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
ゼブラフィッシュ Tg(EF1α:mKO2-zCdt1(1/190)) , Tg(EF1α:mAG-hGem(1/60)) Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.