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1 ke them nonrepetitive but still functional ("synonymous").
2 benign missense mutations and the rest were synonymous.
3 %) novel variants, of which 2.8% were coding synonymous, 93.3% were noncoding (64.6% intronic), and 3
5 ls that the code is organized in clusters of synonymous activity patterns that are similar in meaning
6 replacing codons Thr6 and Pro8 of flgM with synonymous alternates produced a 600-fold range in FlgM
8 instances of seven codons were replaced with synonymous alternatives across all protein-coding genes.
9 .05% frequency [57% non-synonymous (NS), 42% synonymous and 1% gain or loss of stop codon or splice s
10 etation of personal genomes.While non-coding synonymous and intronic variants are often not under str
11 s in genic regions, resulting in overlooking synonymous and intronic variants when searching for dise
12 text alterations to predict pathogenicity of synonymous and non-coding genetic variants, and provide
17 ply the method to estimate unfolded SFSs for synonymous and nonsynonymous sites in a population of Dr
20 e two transitions have been considered to be synonymous, and is also unlike the free (ungrafted) blen
21 shes known pathogenic and benign variants in synonymous (AUC = 0.88) and intronic (AUC = 0.83) public
23 r models that a considerable fraction of non-synonymous cancer mutations is immunogenic and that, une
25 We readily replaced 110 AGR codons with the synonymous CGU codons, but the remaining 13 "recalcitran
28 RNA folding and reducing R-loop formation by synonymous changes in a reporter gene can lower mutation
30 defined by multiple mutations, including non-synonymous changes in the virion protein 35 (VP35), glyc
31 e stabilizing amino acid changes rather than synonymous changes that increase translational accuracy.
32 patients; 4 of which were non-coding, 6 were synonymous coding and 2 were non-synonymous coding seque
33 ondrial defect in the synVI strain mapped to synonymous coding changes within PRE4 (YFR050C), encodin
36 ow-frequency (minor allele frequency = 2.5%) synonymous coding variant g.14900931G>A (p.Asp120Asp) (r
39 These results highlight the potential use of synonymous codon pair deoptimization as a strategy to sa
40 "Min" variants (excess of underrepresented synonymous codon pairs) are nonviable except for P2(Min)
41 7 "Max" mutations (excess of overrepresented synonymous codon pairs) or up to 2,104 "SD" mutations (r
42 open reading frame (ORF) for CFTR containing synonymous codon replacements was expressed using a hete
43 ecent reports have identified rare-to-common synonymous codon substitutions that impair folding of th
44 owever, our limited understanding of allowed synonymous codon substitutions, and the absence of metho
46 of different proteins in yeast and find that synonymous codon substitutions, which change translation
52 g, suggesting that evolution may have shaped synonymous codon usage in the genomes of organisms in pa
53 nables experimental testing of the impact of synonymous codon usage on the production of functional p
54 wn about the molecular mechanisms connecting synonymous codon usage to efficient protein biogenesis a
59 rminant of genome nucleotide composition and synonymous codon use in both bacterial and eukaryotic mi
61 of distinct, functional roles for otherwise synonymous codons and enables experimental testing of th
62 oved by harmonizing selected DNA segments by synonymous codons and reveal additional complexity invol
64 ivalent functions, however, the finding that synonymous codons are not present at equal frequencies i
67 hesis that although the usage frequencies of synonymous codons change from organism to organism, codo
68 n all domains of life, a biased frequency of synonymous codons is observed at the genome level, in fu
81 4 codons, the mRNA levels vary >20 fold with synonymous CRD substitutions that accommodate tRNA dynam
82 ssociated with artemisinin resistance--a non-synonymous Cys580Tyr substitution in 70 (65%) of 107 par
83 30), which is significantly enriched for non-synonymous de novo mutations ascertained from patients w
85 ntroduction of 489 nucleotide changes (19%), synonymous deoptimization of the P1 region rendered a vi
86 and a BACE2 intronic deletion) and 3/12 non-synonymous DNVs (in PSEN1, VPS35 and MARK4) targeted gen
88 functional impact of the following three non-synonymous DNVs targeting this network: the novel PSEN1
89 ities of alpha-synuclein homeostasis are not synonymous, even in the context of an endolysosomal gene
90 e estimates of the ratio of nonsynonymous to synonymous evolutionary changes (dN/dS ratio) located a
91 ures (measured as ratios of nonsynonymous to synonymous evolutionary changes [dN/dS ratios]) acting o
92 rected the effect of a translation-defective synonymous flgM allele were restricted to two codons fla
95 ngle protein to be encoded by a multitude of synonymous gene sequences, has an important role in regu
96 EP is a new software tool for predicting non-synonymous genetic variants that may play a causal role
98 to understand as numerous mutations and non-synonymous genetic variation in ZnT2 have been detected
100 st increases the accuracy of translation via synonymous "high fidelity" codons at especially sensitiv
103 ing SIRCAS, we create a Salmonella with 1557 synonymous leucine codon replacements across 176 genes,
106 ariant leading to early truncation and a non-synonymous missense variant) in a pair of siblings affec
110 ted the procedure by designing a cassette of synonymous MS2 RNA motifs and tandem coat proteins for R
112 ur study identified an independent risk of a synonymous mutation at HLA-DOA, a non-classical HLA gene
113 fic immune response against the virus; a non-synonymous mutation in an epitope region of the virus is
114 t CUG codons within the +1 reading frame: 1) synonymous mutation of CUG codons in the M2-reading fram
115 coded by genes that have a non-synonymous to synonymous mutation rate even greater than immune-relate
116 and non-coding regions and synonymous-to-non-synonymous mutation ratios suggest the neutral drift bei
117 variant under selection in Europeans (a non-synonymous mutation, C282Y) has been relatively well-stu
118 n, we found that potentially deleterious non-synonymous mutations (9566 SNPs) explained as much genet
119 library in SMN1 exon 7, we show that 23% of synonymous mutations across the exon decrease exon inclu
120 tions identified were biallelic and included synonymous mutations altering splicing of physiological
121 y of 1.9 x 10(7) with over 8500 possible non-synonymous mutations and inferred the effects of each mu
123 onymous to synonymous mutations; however, if synonymous mutations are under purifying selection, this
124 formation specific and provide evidence that synonymous mutations can alter the drug sensitivity of p
126 ions, we found that de novo near-splice site synonymous mutations changing exonic splicing regulators
127 ting between neutral and disease-causing non-synonymous mutations documented in the human population
132 sing temperature, a CPD RSV containing 2,692 synonymous mutations in 9 of 11 ORFs did not lose temper
135 ic analysis revealed the existence of higher synonymous mutations in the intronless divergents of ReC
136 In this study we identified deleterious non-synonymous mutations in two cilia genes, Dnah11 and Mks1
137 ints, contributing also to the evidence that synonymous mutations in viral ssRNA genomes are not stri
138 oach, we introduce a barcoded library of non-synonymous mutations into hotspot codons 12 and 13 of Kr
142 gene on de novo tumorigenesis, we introduced synonymous mutations that converted rare codons into com
143 lus (mRNA) and minus (vRNA) strands and used synonymous mutations to ablate m(6)A on both strands of
145 ipoprotein A-V (APOA5), carriers of rare non-synonymous mutations were at 2.2-fold increased risk for
146 rotein receptor (LDLR), carriers of rare non-synonymous mutations were at 4.2-fold increased risk for
148 es differed by one or two reverse engineered synonymous mutations, and measured the transmission of t
149 n protein and numerous spliced variants, non-synonymous mutations, and post-translational modificatio
150 er 260 000 somatic alterations including non-synonymous mutations, copy number variants and structura
151 outheast Asia there is a great excess of non-synonymous mutations, many of which cause radical amino-
153 orrection mechanisms and the consequences of synonymous mutations, we analyzed the effect of mechanis
154 spite the fact that it would be disrupted by synonymous mutations, which raises the possibility of ev
158 sites with high ratios of non-synonymous to synonymous mutations; however, if synonymous mutations a
160 s in which this sequence was replaced with a synonymous nonmicrosatellite sequence did not produce fu
162 ng variants down to 0.05% frequency [57% non-synonymous (NS), 42% synonymous and 1% gain or loss of s
163 analysis identified 3 amino acid changes, 16 synonymous nucleotide changes, and a 12-bp insertion str
164 ous nucleotide site diversity (piN/piS), and synonymous nucleotide diversity (piS), avoiding the stat
165 selection, the nonsynonymous relative to the synonymous nucleotide site diversity (piN/piS), and syno
166 ce and/or elevated ratio of nonsynonymous to synonymous nucleotide substitution rate, are characteriz
167 with the largest ratio of non-synonymous to synonymous nucleotide substitutions also show the most p
168 at infected this patient displayed only five synonymous nucleotide substitutions on the full genome (
169 al de novo mutations to include "functional" synonymous ones and strengthen the role of rare variants
170 imization, in which codons are replaced with synonymous ones in order to increase protein expression.
172 protein sequence; however, the selection of synonymous or 'silent' mutations in the HIV-1 genome wit
173 reased with age, and many mutations were non-synonymous or resided in RNA coding genes and thus can l
180 ervation scores are insufficient to identify synonymous positions important for exon inclusion, an al
182 n algorithms and conservation scores, 12 non-synonymous prediction algorithms and four cancer-specifi
188 moved from the SC into the IR exhibit lower synonymous rates consistent with other IR genes, while g
190 Our results define allowed and disallowed synonymous recoding schemes, and enable the identificati
192 78707713 and the lead SLC44A2 SNP is the non-synonymous rs2288904 previously shown to associate with
193 NPSR1 risk isoform, functional analysis of a synonymous single nucleotide polymorphism in the coding
194 receptor gene (ADRB2) contains a common, non-synonymous single nucleotide polymorphism, Gly16Arg, tha
196 dies discovered at least eight validated non-synonymous single nucleotide polymorphisms (nsSNPs) of t
199 ined in Bogota, Colombia, we identify 28 non-synonymous single nucleotide variants that are considere
201 re-computed predictions of the impact of non-synonymous single nucleotide variants, to facilitate the
202 reference followed by identification of non-synonymous Single Nucleotide Variations (nsSNVs) and int
204 population and analysis of the statistics of synonymous single-nucleotide polymorphisms revealed a hi
206 y found to harbour schizophrenia de novo non-synonymous single-nucleotide variants (SNVs; P=5.4 x 10(
208 uency plots for synonymous substitutions per synonymous site (Ks ) between paralogous gene pairs and
210 a novel test of natural selection targeting synonymous sites and demonstrate that GC3-related DNA ba
218 terization and validation of deleterious non-synonymous SNPs (nsSNPs) in the interleukin-8 gene using
220 pre-mRNA splicing suggests that up to 45% of synonymous SNPs are likely to alter pre-mRNA splicing.
221 sms (SNPs) and the ratio of nonsynonymous to synonymous SNPs compared to findings in viral population
222 dentified conserved, ecotype-restricted, non-synonymous SNPs that are predicted to affect the protein
224 cted by autism de novo SNVs (P=0.019 for non-synonymous SNV genes) did not survive Bonferroni correct
228 G12D), MNU tumours had an average of 192 non-synonymous, somatic single-nucleotide variants, compared
229 genome-wide level, our results implicate non-synonymous, splice site as well as stop-altering single-
231 rther genotyping indicated that a single non-synonymous substitution (A120G) in the N-terminal region
232 mous substitutions are more predominant than synonymous substitution and occur across the entire geno
233 pes differed from FFAR3 by only a single non-synonymous substitution and that the GPR42 reference seq
234 thod based on the ratio of non-synonymous to synonymous substitution rates (dN/dS) on X-chromosome ge
235 ithin Nunavik: The ratio of nonsynonymous to synonymous substitution rates (dN/dS) was 0.534 before t
236 y shifts in land plants and demonstrate that synonymous substitution rates are, on average, 3.7 times
238 l, measured as the ratio of nonsynonymous to synonymous substitution rates, and microbial genome size
239 rous differences in diversity, nonsynonymous/synonymous substitution rates, and recombination rates b
240 have experienced a dramatic acceleration in synonymous substitution rates, consistent with the hypot
241 fferentiation, and a higher nonsynonymous-to-synonymous substitution ratio than the rest of the X chr
242 analysis provides strong evidence that many synonymous substitutions have been selected to optimize
243 l gene order (synteny) and a small number of synonymous substitutions in the protein-coding genes.
246 At the species level, biased patterns of synonymous substitutions underpin increased codon optimi
247 dN (nonsynonymous substitutions) but not dS (synonymous substitutions) within rpoB/sig1 and rpoC2/sig
248 nomena including highly accelerated rates of synonymous substitutions, extensive gene loss and reduct
253 roteins are encoded by genes that have a non-synonymous to synonymous mutation rate even greater than
254 is to identify sites with high ratios of non-synonymous to synonymous mutations; however, if synonymo
256 prediction method based on the ratio of non-synonymous to synonymous substitution rates (dN/dS) on X
259 on between coding and non-coding regions and synonymous-to-non-synonymous mutation ratios suggest the
261 nd putatively protein-damaging URVs (but not synonymous URVs) were more abundant among individuals wi
262 i, and one new independent low-frequency non-synonymous variant in an established heart rate locus (K
263 + replication p = 6.38 x 10(-10)) and a rare synonymous variant in GFI1B (rs150813342, MAF = 0.009, d
265 strongest enrichment for causality among non-synonymous variants (54x more likely to be causal, 1.4x
269 exomes from epilepsy family trios identifies synonymous variants in known epilepsy genes, thus pinpoi
270 d variants in four of the novel loci are non-synonymous variants in the genes C10orf71, DALDR3, TESK2
271 ss effects and the ratio of nonsynonymous to synonymous variants suggest that purifying selection has
272 annotated several thousand more reliable non-synonymous variants than other widely used tools (e.g. A
273 interim measure, exome arrays allow rare non-synonymous variants to be sampled at a fraction of the c
280 ediction method that measures paucity of non-synonymous variation in the human population to infer ge
281 sease, but for many practitioners has become synonymous with "idiopathic AF." As the list of heart di
282 o use 'adaptive radiation' or 'radiation' as synonymous with 'explosive species diversification'.
286 warm temperatures and high precipitation are synonymous with climatic amelioration and cold and wet c
287 typical motile fish-pathogenic E. tarda are synonymous with Edwardsiella piscicida, while atypical n
288 incorrect perception that palliative care is synonymous with end-of-life care, with no role earlier i
290 sed on indacenodithiophene (IDT) have become synonymous with high power conversion efficiencies (PCEs
291 at demonstrate long-range magnetic order are synonymous with information storage and the electronics
293 mune encephalomyelitis because NFM-deficient synonymous with knockout mice developed an identical dis
294 The Hurst effect is frequently taken to be synonymous with Long-Range Dependence (LRD) and is typic
298 ific responses in animal models, have become synonymous with the major histocompatibility complex (MH
300 e and none encoded a type 3 secretion system synonymous with typical enterohaemorrhagic strains.
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