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13 Hits
検索条件 : 絞込み (MeSH = Mutation, Missense / genetics*)
生物種
リソース名
RRC ID
タイトル
ジャーナル
公開日
外部リンク
遺伝子材料
CSII-EF-MCS-IRES2-Venus (RDB04384)
67734
The Molecular Basis of Chemical Chaperone Therapy for Oculocutaneous Albinism Type 1A.
J Invest Dermatol
2019-5-1
Pubmed
Full text
ラット
GRY/Idr (StrainID=498)
,
F344-Scn1am1Kyo (StrainID=716)
61089
Scn1a and Cacna1a mutations mutually alter their original phenotypes in rats.
Neurochem Int
2020-12-1
Pubmed
Full text
ヒト・動物細胞
Ca9-22(RCB1976)
,
HO-1-u-1(RCB2102)
,
SAS(RCB1974)
52677
Multiple coagulation factor deficiency protein 2 as a crucial component in metastasis of human oral cancer.
Exp Cell Res
2018-7-1
Pubmed
Full text
ヒト・動物細胞
201B7(HPS0063)
51790
In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations.
Mol Brain
2016-7-19
Pubmed
Full text
遺伝子材料
pEF-mouse T7-Munc13-4 (RDB15181)
49212
Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2.
Pigment Cell Melanoma Res
2010-6-1
Pubmed
Full text
遺伝子材料
CSII-CMV-MCS-IRES2-Bsd (RDB04385)
,
pCAG-HIVgp (RDB04394)
,
pCMV-VSV-G-RSV-Rev (RDB04393).
35705
Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia.
Am J Hum Genet
2015-6-4
Pubmed
Full text
ラット
F344-Lgi1m1Kyo (strainID=1036)
33264
Evaluation of seizure foci and genes in the Lgi1(L385R/+) mutant rat.
Neurosci Res
2014-3-1
Pubmed
Full text
ラット
F344-Scn1am1Kyo(strainID=716)
27731
Inhalation of 10% carbon dioxide rapidly terminates Scn1a mutation-related hyperthermia-induced seizures.
Epilepsy Res
2013-7-1
Pubmed
Full text
ラット
F344-Scn1am1Kyo(strainID=716)
12669
Scn1a missense mutation causes limbic hyperexcitability and vulnerability to experimental febrile seizures.
Neurobiol Dis
2011-2-1
Pubmed
Full text
ラット
F344-Scn1am1Kyo(strainID=716)
12668
A missense mutation of the gene encoding voltage-dependent sodium channel (Nav1.1) confers susceptibility to febrile seizures in rats.
J Neurosci
2010-4-21
Pubmed
Full text
実験動物マウス
RBRC00188
6018
Progressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligase.
PLoS Genet
2009-12-1
Pubmed
Full text
ラット
GRY/Idr(strainID=498)
,
BN/SsNSlc(strainID=371)
2808
The ataxic groggy rat has a missense mutation in the P/Q-type voltage-gated Ca2+ channel alpha1A subunit gene and exhibits absence seizures.
Brain Res
2007-2-16
Pubmed
Full text
実験動物マウス
RBRC02324
,
RBRC02325
2414
Behavioral phenotypes of Disc1 missense mutations in mice.
Neuron
2007-5-3
Pubmed
Full text