ナンセンス変異体
WordNet
- having no intelligible meaning; "nonsense syllables"; "a nonsensical jumble of words" (同)nonsensical
- a message that seems to convey no meaning (同)bunk, nonsensicality, meaninglessness, hokum
- tending to undergo or resulting from mutation; "a mutant gene"
- an animal that has undergone mutation
- (biology) an organism that has characteristics resulting from chromosomal alteration (同)mutation, variation, sport
PrepTutorEJDIC
- 『無意味な言葉』(『行為』),たわごと;ばかげた考え(振舞い) / くだらないこと(もの)(trifles) / ばかな,くだらん
- 突然変異種(堤)
UpToDate Contents
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English Journal
- Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.
- Kuilenburg AB1, Meijer J2, Tanck MW2, Dobritzsch D3, Zoetekouw L2, Dekkers LL4, Roelofsen J2, Meinsma R2, Wymenga M5, Kulik W2, Büchel B6, Hennekam RC2, Largiadèr CR6.
- Biochimica et biophysica acta.Biochim Biophys Acta.2016 Apr;1862(4):754-62. doi: 10.1016/j.bbadis.2016.01.009. Epub 2016 Jan 12.
- Dihydropyrimidine dehydrogenase (DPD) is the initial and rate-limiting enzyme in the catabolism of the pyrimidine bases uracil, thymine and the antineoplastic agent 5-fluorouracil. Genetic variations in the gene encoding DPD (DPYD) have emerged as predictive risk alleles for 5FU-associated toxicity.
- PMID 26804652
- Evolutionarily conserved autoregulation of alternative pre-mRNA splicing by ribosomal protein L10a.
- Takei S1, Togo-Ohno M1, Suzuki Y2, Kuroyanagi H3.
- Nucleic acids research.Nucleic Acids Res.2016 Mar 9. pii: gkw152. [Epub ahead of print]
- Alternative splicing of pre-mRNAs can regulate expression of protein-coding genes by generating unproductive mRNAs rapidly degraded by nonsense-mediated mRNA decay (NMD). Many of the genes directly regulated by alternative splicing coupled with NMD (AS-NMD) are related to RNA metabolism, but the rep
- PMID 26961311
- Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.
- Nguyen M1,2, Boesten I1, Hellebrekers D1, Mulder-den Hartog NM3, de Coo I3, Smeets H1,2, Gerards M1,2,4.
- Clinical genetics.Clin Genet.2016 Mar 8. doi: 10.1111/cge.12774. [Epub ahead of print]
- The inherited optic neuropathies comprise a group of genetically heterogeneous disorders causing optic nerve dysfunction. In some cases, optic neuropathies are associated with cerebellar atrophy which mainly affects the vermis. Here, we describe a Moroccan girl of consanguineous parents with optic a
- PMID 26951855
Japanese Journal
- Involvement of the Wbp pathway in the biosynthesis of Porphyromonas gingivalis lipopolysaccharide with anionic polysaccharide
- Shoji Mikio,Sato Keiko,Yukitake Hideharu,Naito Mariko,Nakayama Koji
- Scientific Reports 4, 5056, 2014-05-23
- … Sequencing of the wbpB gene from strain HG66 revealed the presence of a nonsense mutation in the gene. … A PGN-0002-deficient mutant demonstrated an A-LPS biosynthesis deficiency. …
- NAID 120005447069
- Tudor domain containing 12 (TDRD12) is essential for secondary PIWI interacting RNA biogenesis in mice.
- Pandey Radha Raman,Tokuzawa Yoshimi,Yang Zhaolin,Hayashi Eri,Ichisaka Tomoko,Kajita Shimpei,Asano Yuka,Kunieda Tetsuo,Sachidanandam Ravi,Chuma Shinichiro,Yamanaka Shinya,Pillai Ramesh S
- Proceedings of the National Academy of Sciences of the United States of America 110(41), 16492-16497, 2013-10-08
- … Male mice carrying either a nonsense point mutation (reproductive mutant 23 or repro23 mice) or a targeted deletion in the Tdrd12 locus are infertile and derepress retrotransposons. …
- NAID 120005347109
- Nonsense-mediated mRNA decay was demonstrated in two hypofibrinogenemias caused by heterozygous nonsense mutations of FGG, Shizuoka III and Kanazawa II
- Soya Keisuke,Takezawa Yuka,Okumura Nobuo,Terasawa Fumiko
- THROMBOSIS RESEARCH 132(4), 465-470, 2013-10
- … To determine whether the truncated γ-chains, γ23X and γ376X, were synthesized and participated in the assembly of fibrinogen, mutant-type cDNA vectors were transfected into Chinese hamster ovary (CHO) cells. … Significant levels of mutant fibrinogen were not detected by ELISA in the culture media and cell lysates. … Immunoblot analysis of cell lysates revealed that the mutant γ-chain of γ376X was observed but intact fibrinogen was not. …
- NAID 120005366103
Related Links
- Mutations In the living cell, DNA undergoes frequent chemical change, especially when it is being replicated (in S phase of the eukaryotic cell cycle). Most of these changes are quickly repaired. Those that are not result in a mutation.
- The positive opinion from the CHMP recommending the conditional approval of Translarna in nonsense mutation Duchenne muscular dystrophy is a major milestone for the DMD community and we are extremely proud of this joint ...
Related Pictures
★リンクテーブル★
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- 英
- nonsense mutant
- 関
- ナンセンス突然変異、ナンセンス変異
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