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論文 - 一覧

  • 101 Hits
  • 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 SRA 01/04(RCB1591) Insight into Pathogenic Mechanism Underlying the Hereditary Cataract Caused by βB2-G149V Mutation.
ヒト・動物細胞 HiDEP-1(RCB4554) GAPDH is involved in the heme-maturation of myoglobin and hemoglobin.
線虫 tm2979 Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay.
ショウジョウバエ DGRC#116669 , DGRC#116715 , DGRC#116750 , DGRC#116605 , DGRC#116608 , DGRC#116671 , DGRC#116689 , DGRC#116597 , DGRC#116684 , DGRC#116700 , ... Notch Missense Mutations in Drosophila Reveal Functions of Specific EGF-like Repeats in Notch Folding, Trafficking, and Signaling.
ヒト・動物細胞 253G1(HPS0002) A single mutation in the E2 glycoprotein of hepatitis C virus broadens the claudin specificity for its infection.
ヒト・動物細胞 NALM-6(RCB1933) A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS.
ショウジョウバエ DGRC#108284 Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
ショウジョウバエ DGRC#109594 Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia.
ヒト・動物細胞 TE-1(RCB1894) , TE-4(RCB2097) , TE-5(RCB1949) , TE-8(RCB2098) , TE-9(RCB1988) , TE-10(RCB2099) , TE-11(RCB2100) , TE-14(RCB2101) APR-246 induces apoptosis and enhances chemo-sensitivity via activation of ROS and TAp73-Noxa signal in oesophageal squamous cell cancer with TP53 missense mutation.
ヒト・動物細胞 MKN45(RCB1001) Combined drug action of 2-phenylimidazo[2,1-b]benzothiazole derivatives on cancer cells according to their oncogenic molecular signatures.
ヒト・動物細胞 409B2(HPS0076) Reduced purine biosynthesis in humans after their divergence from Neandertals.
ヒト・動物細胞 T98G(RCB1954) Functional characterization of 5-oxoproline transport via SLC16A1/MCT1.
遺伝子材料 , ヒト・動物細胞 Genome Network Project Human cDNA Clone W01A015A12 (HGE006012) , 293T(RCB2202) Identification of Endogenous Kinase Substrates by Proximity Labeling Combined with Kinase Perturbation and Phosphorylation Motifs.
ヒト・動物細胞 DT40(RCB1464) Hypermorphic mutation of phospholipase C, γ2 acquired in ibrutinib-resistant CLL confers BTK independency upon B-cell receptor activation.
ヒト・動物細胞 293(RCB1637) Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels.
ヒト・動物細胞 KGN(RCB1154) An alternative miRISC targets a cancer-associated coding sequence mutation in FOXL2.
ヒト・動物細胞 OP9(RCB1124) Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopenia.
ヒト・動物細胞 CHO-K1 Protease-resistant modified human β-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model.
ラット WIC-Tgrdw/Kts (StrainID=193) Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death.
遺伝子材料 , ヒト・動物細胞 Genome Network Project Human cDNA Clone IRAK049I14 (HGX019806) , HeLa(RCB0007) Tryptophan Depletion Modulates Tryptophanyl-tRNA Synthetase-Mediated High-Affinity Tryptophan Uptake into Human Cells.