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論文 - 一覧

  • 22 Hits
  • 検索条件 : 絞込み (MeSH = Codon, Nonsense)
生物種 リソース名 タイトル
ゼブラフィッシュ pT2ZUASRFP HeterozygousKIDINS220/ARMSnonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity
ゼブラフィッシュ Tg(vglut2a:loxP-DsRed-loxP-GFP) Disruption of grin2B, an ASD-associated gene, produces social deficits in zebrafish.
シロイヌナズナ / 植物培養細胞・遺伝子 pst00409 , pst17712 , pst01274 Natural variation in sensitivity to a loss of chloroplast translation in Arabidopsis.
ヒト・動物細胞 HPS3386 Generation of a human induced pluripotent stem cell line derived from a patient with dilated cardiomyopathy carrying LMNA nonsense mutation.
ヒト・動物細胞 PC-12(RCB0009) SLITRK6 mutations cause myopia and deafness in humans and mice.
線虫 tm4687 A fln-2 mutation affects lethal pathology and lifespan in C. elegans.
線虫 Kettin, the large actin-binding protein with multiple immunoglobulin domains, is essential for sarcomeric actin assembly and larval development in Caenorhabditis elegans.
ヒト・動物細胞 293T(RCB2202) Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7.
ツメガエル・イモリ Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients.
実験動物マウス RBRC00063 Genetic and animal model analyses reveal the pathogenic role of a novel deletion of RELN in schizophrenia.
イネ Induced mutation line The rice endosperm ADP-glucose pyrophosphorylase large subunit is essential for optimal catalysis and allosteric regulation of the heterotetrameric enzyme.
メダカ zmpste24(Y79X) (MT1222) , OK-Cab (MT830) , Tg(CMV-H2B-GFP) (TG849) Abnormal nuclear morphology is independent of longevity in a zmpste24-deficient fish model of Hutchinson-Gilford progeria syndrome (HGPS).
原核生物(大腸菌) JW3066-KC , JW2975-KC , JW2976-KC , JW3065-KC Temperature sensitivity and cell division defects in an Escherichia coli strain with mutations in yghB and yqjA, encoding related and conserved inner membrane proteins.
遺伝子材料 Genome Network Project Clone IRAL038I16 (HGY095408) Cereblon is recruited to aggresome and shows cytoprotective effect against ubiquitin-proteasome system dysfunction.
ラット VF/Kyo(strainID=21) The VF rat with abnormal myelinogenesis has a mutation in Dopey1.
実験動物マウス RBRC02227 Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
ラット F344-Lepm1Kyo(strainID=995) Generation of leptin-deficient Lepmkyo/Lepmkyo rats and identification of leptin-responsive genes in the liver.
遺伝子材料 pUPAT-egfp3ic (RDB07884) , pUPAT-SRV (RDB07885) Suppression of nonsense-mediated mRNA decay permits unbiased gene trapping in mouse embryonic stem cells.
ラット F344-Hrkrh/Kyo(strainID=757) Kyoto rhino rats derived by ENU mutagenesis undergo congenital hair loss and exhibit focal glomerulosclerosis.
シロイヌナズナ / 植物培養細胞・遺伝子 pda08325 The upstream open reading frame of the Arabidopsis AtMHX gene has a strong impact on transcript accumulation through the nonsense-mediated mRNA decay pathway.