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論文 - 一覧

  • 13 Hits
  • 検索条件 : 絞込み (MeSH = Mutation, Missense / genetics*)
生物種 リソース名 タイトル
遺伝子材料 CSII-EF-MCS-IRES2-Venus (RDB04384) The Molecular Basis of Chemical Chaperone Therapy for Oculocutaneous Albinism Type 1A.
ラット GRY/Idr (StrainID=498) , F344-Scn1am1Kyo (StrainID=716) Scn1a and Cacna1a mutations mutually alter their original phenotypes in rats.
ヒト・動物細胞 Ca9-22(RCB1976) , HO-1-u-1(RCB2102) , SAS(RCB1974) Multiple coagulation factor deficiency protein 2 as a crucial component in metastasis of human oral cancer.
ヒト・動物細胞 201B7(HPS0063) In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations.
遺伝子材料 pEF-mouse T7-Munc13-4 (RDB15181) Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2.
遺伝子材料 CSII-CMV-MCS-IRES2-Bsd (RDB04385) , pCAG-HIVgp (RDB04394) , pCMV-VSV-G-RSV-Rev (RDB04393). Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia.
ラット F344-Lgi1m1Kyo (strainID=1036) Evaluation of seizure foci and genes in the Lgi1(L385R/+) mutant rat.
ラット F344-Scn1am1Kyo(strainID=716) Inhalation of 10% carbon dioxide rapidly terminates Scn1a mutation-related hyperthermia-induced seizures.
ラット F344-Scn1am1Kyo(strainID=716) Scn1a missense mutation causes limbic hyperexcitability and vulnerability to experimental febrile seizures.
ラット F344-Scn1am1Kyo(strainID=716) A missense mutation of the gene encoding voltage-dependent sodium channel (Nav1.1) confers susceptibility to febrile seizures in rats.
実験動物マウス RBRC00188 Progressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligase.
ラット GRY/Idr(strainID=498) , BN/SsNSlc(strainID=371) The ataxic groggy rat has a missense mutation in the P/Q-type voltage-gated Ca2+ channel alpha1A subunit gene and exhibits absence seizures.
実験動物マウス RBRC02324 , RBRC02325 Behavioral phenotypes of Disc1 missense mutations in mice.