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論文 - 一覧

  • 23 Hits
  • 検索条件 : 絞込み (MeSH = Mutation, Missense / genetics)
生物種 リソース名 タイトル
線虫 tm925 , tm2547 Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans.
ショウジョウバエ Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
遺伝子材料 pMRX-bsr-EGFP-hRab27A (RDB18647) , pMRX-bsr-EGFP-hRab27A-V143A (RDB18648) Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.
ヒト・動物細胞 CW-2(RCB0778) Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.
実験動物マウス GSC0164 ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.
線虫 tm3103 , tm752 Protein phosphatase 2A is crucial for sarcomere organization in Caenorhabditis elegans striated muscle.
線虫 tm536 Genetic and cellular sensitivity of Caenorhabditis elegans to the chemotherapeutic agent cisplatin.
ヒト・動物細胞 293(RCB1637) Genetic basis of calcifying cystic odontogenic tumors.
線虫 tm3456 The Caenorhabditis elegans gene mfap-1 encodes a nuclear protein that affects alternative splicing.
線虫 tm925 , tm2452 Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans.
線虫 tm1552 The DEG/ENaC protein MEC-10 regulates the transduction channel complex in Caenorhabditis elegans touch receptor neurons.
線虫 tm3100 Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance.
ヒト・動物細胞 Wolbachia from the planthopper Laodelphax striatellus establishes a robust, persistent, streptomycin-resistant infection in clonal mosquito cells.
ヒト・動物細胞 Radiation sensitivities of 31 human oesophageal squamous cell carcinoma cell lines.
ヒト・動物細胞 3T3 fibroblast cells from a BALB/c mouse Genetic polymorphisms and antiviral activity in the bovine MX1 gene.
ヒト・動物細胞 Hep G2 Inhibitory effect of 5β-pregnane-3α,20β-diol on transcriptional activity and enzyme activity of human bilirubin UDP-glucuronosyltransferase.
ヒト・動物細胞 PC-9(RCB4455) Effect of sialylation on EGFR phosphorylation and resistance to tyrosine kinase inhibition.
ラット F344-Scn1am1Kyo (strainID=716) Methylphenidate improves learning impairments and hyperthermia-induced seizures caused by an Scn1a mutation.
遺伝子材料 MSM Mouse BAC (RDB04214) MSMg01-261K04. WDR81 is necessary for purkinje and photoreceptor cell survival.
ラット ACI/NKyo(strainID=6) , WTC/Kyo(strainID=18) , WTC-swh/Kyo(strainID=539) A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene.