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5 This observation allows the integration of genic and allelic effects into a single scheme, which ma
6 ease (ADPKD) is heterogeneous with regard to genic and allelic heterogeneity, as well as phenotypic v
7 fluences of the germline mutation are at the genic and allelic levels, but intrafamilial variability
11 romatin accessibility increase and spread to genic and flanking regions due to destabilization of the
13 ious studies have now demonstrated that both genic and global hypomethylation characterizes the multi
17 ze, revealed extensive local conservation of genic and intergenic regions, with no evidence of the gl
25 ecessitating the use of WGS to delineate all genic and non-genic susceptibility variants in research
26 global aggregation of STAT binding loci from genic and nongenic regions highlights a new role for dif
29 rall, we have quantified the contribution of genic and PKD1 allelic effects and sex to the ADPKD phen
31 but in Europe these alleles are enriched in genic and putatively functional alleles to an extent onl
32 nts (CNVs) stems from both the proportion of genic and regulatory content altered and loss-of-functio
35 ns, one comprising traditional coding genes (genic) and the other comprising intergenic repetitive el
37 ns, on nucleosomal organization at promoter, genic, and transcription termination regions in Saccharo
39 cluding linkage disequilibrium (LD)-weighted genic annotation scores, total LD scores and heterozygos
42 iants associated with stability reveal fewer genic associations and enrichment of variants 0-5000 bas
44 characterized variation at 9p23, and several genic associations in the context of acute coronary arte
45 ence of a positive effect of the genomic and genic base composition on mammalian gene expression.
46 ns in the nonconserved microsatellites and a genic bias in all detected tandem repeats and confirm th
48 tenance of sexually selected traits, such as genic capture ('good genes') and sexually antagonistic s
49 d, then sexually selected filtering through 'genic capture' could offset the costs of sex because it
56 ntact HIV-1 proviruses were enriched for non-genic chromosomal positions and more frequently showed a
57 bserve considerable genetic variation at the genic, chromosomal and subgenomic levels, and use this i
60 gh sensitivity and specificity for detecting genic CNVs >/=400 kb including known pathogenic CNVs alo
61 aracterized the rates and properties of rare genic CNVs (<0.5% frequency) in exome sequencing data fr
62 identify effects on gene expression of rare genic CNVs and regulatory single-nucleotide variants and
63 y of exome-focused arrays in surveying large genic CNVs in very large samples; and thereby open the d
64 can reliably be used to discover disruptive genic CNVs missed by standard approaches and should have
67 red by the ENCODE project, together with non-genic conservation and the abundance of noncoding RNA ge
68 trated moderate correlation with measures of genic constraint based on single-nucleotide variation (S
69 s, and the importance of latitudinally based genic context in the expression of large-effect alleles.
70 the functions of 5-mC and 5-hmC at distinct genic contexts, including promoter regions, gene bodies,
72 osition (SVD) normalization to discover rare genic copy number variants (CNVs) as well as genotype co
74 ntify a twofold excess of subjects with rare genic copy number variations in Htx (14.5% vs. 7.4%, P =
77 and points toward global hypomethylation at genic CpG loci as an important and early mechanism drivi
78 lasts and lymphoblasts was as follows: a non-genic D4Z4-adjacent sequence (p13E-11, array-proximal)>
80 affected families and confirmed an excess of genic deletions and duplications in affected versus cont
84 ween any two individuals and find that these genic differences overwhelmingly correspond to segmental
86 istinguish effects of polyploidy per se from genic differences that accumulate after genome duplicati
89 escribe the finding that heterochromatin and genic DNA methylation are highly variable among 725 A. t
90 ator EDM2 is also required for prevention of genic DNA methylation because it maintains IBM1 expressi
91 3-rich chromatin raises the possibility that genic DNA methylation is influenced by splicing-associat
93 gest a mechanism of efficient acquisition of genic DNA residing between neighbouring Pack-TYPE transp
95 , respectively, and that 6mA accumulation in genic elements corresponds with transcriptional silencin
97 r active chromatin states in brain including genic enhancers and active transcription start sites.
98 sing numerous multi-enhancer genes and multi-genic enhancers engaged in the control of divergent mole
99 flammation, and co-localized with eQTLS and (genic enhancers of) of transcription sites in brain and
100 on of IL-6 (P <0.05), and did not modify the genic expression of COX-2 in animals with EP (P >0.05).
102 high level of conservation of gene content, genic feature, and gene order although discordances in s
104 which includes variation for the content of genic fragments, variation in repetitive elements surrou
106 nic' (Rg) mice ('retro' from retrovirus and 'genic' from Tg) to avoid confusion with traditional tran
107 o revealing a degree of independence between genic H3K36me3 and DNA methylation, these findings highl
108 rrays revealed that levels of all degrees of genic H3K79 methylation correlate with mRNA abundance an
109 e present dataset, we estimate on average 16 genic heterozygous deletions per individual genome.
110 , TPA-promoted (that is, c-fos-activated) bi-genic HK1.ras-Delta5PTEN(flx) cohorts lost p53/p21 expre
112 mapping and confirmed that R-loops form over genic hotspots, including gene bodies and terminal gene
118 bserved MTRD in adult hybrids to cytonuclear genic incompatibilities causing differential mortality d
119 romising model for studying the evolution of genic incompatibilities due to the existence of interfer
121 Sterility may result from chromosomal or genic incompatibilities, and much progress has been made
126 most pertinent to genomic medicine: directed genic interactions such as pathways and genotype-phenoty
128 mic SSBs in different regions of the genome (genic, intergenic, and heterochromatic) and at different
130 nts in genes irrelevant to disease), whereas genic intolerance and de novo excess performed better fo
131 GDI with the leading gene-level approaches, genic intolerance, and de novo excess, and demonstrated
132 gher probabilities of haploinsufficiency and genic intolerance, and significantly interacted and co-e
133 gical pathways related to neurons, synapses, genic intolerance, membrane transport, epilepsy, and men
137 this differs by CpG dinucleotide density and genic location of the DNAm site is not well understood.
139 o population-level selection effects against genic loci conferring high mortality, we describe geneti
140 cultivars, alleles were resequenced from 81 genic loci distributed throughout the sunflower genome.
141 assess differential CpG methylation at 1,500 genic loci during MM progression and profiled CD138(+) p
142 l evidence of enrichment at genic versus non-genic loci for these traits, as compared with an analysi
143 nt complexity at different scales, including genic loci subject to clusters of repeated rearrangement
144 agement, the contribution of MSI at distinct genic loci to the phenotype remains largely unexplored.
146 ental and heritable epialleles arise at many genic loci, including a locus that itself controls DNA m
148 trate strong and widespread coupling between genic LoF intolerance and promoter CpG density across th
149 To obtain empirical data, we used codominant genic markers in genetic mapping of the dioecious plant
151 thylation and gene expression and a role for genic methylation in response to clinical DNA methylatio
152 sues of Brachypodium distachyon and compared genic methylation patterns to those of rice (Oryza sativ
155 (Triticum spp.), with the aim of identifying genic modifications that contribute to its plant-parasit
163 the -1 and +1 nucleosomes, NDR and proximal genic nucleosomes, at genes highly dependent on its func
165 RNAs, which directly target the 3'UTR of the genic oligouridylate binding protein 1B (UBP1b) mRNA.
167 cessary for WC1 genes to function as a multi-genic pattern recognition receptor array is encoded in t
168 e pronounced in genomic regions that are non-genic, pericentromeric, transposable elements; methylate
169 Collectively, the ovary data reveal new genic piRNA loci, including unusual configurations of pi
171 macronuclear genome is whittled down to the genic portion of a small fraction ( approximately 5%) of
172 en located in intergenic regions, making the genic portions of the human genome an interleaved networ
178 oles, while others may exist to insulate the genic reading frame from the negative impacts of upstrea
182 rs1014971, (P = 8 x 10(1)(2)) maps to a non-genic region of chromosome 22q13.1, rs8102137 (P = 2 x 1
183 identify the Yr6 locus - defining a smaller genic region than was previously possible; associate the
186 ative controls targeting non-functional, non-genic regions (termed safe-targeting guides), in additio
188 silent or weakly transcribed intergenic and genic regions and accompanied by an increase of H3K27ac
189 s of altered methylation are enriched around genic regions and are often correlated with changes in s
191 tern occurs not only in promoter but also in genic regions and is significantly correlated with highe
192 non-TGCA Copia elements are often located in genic regions and preferentially insert nearby or within
193 1 (CABIN1), deposits histone variant H3.3 to genic regions and regulates gene expression in various c
195 eptides emerge de novo from thymine-rich non-genic regions and subsequently accumulate changes molded
196 me also revealed localization of enzyme-rich genic regions and transporters near known biosynthetic e
197 this is the first time that non-recombining, genic regions as large as 86% of a full chromosome (or 8
198 anization at very different scales, from sub-genic regions associated with DNA-binding proteins at th
199 into nucleosomes, along with histone H4, at genic regions by the histone chaperone HIRA, whereas H3.
200 nt species-specific structural variations in genic regions changed the expression of many important g
205 enic regions play a more important role than genic regions in trait heritability in rice, which is co
206 tudies indicates that viral integration into genic regions is accompanied by local amplification, inc
213 We show that it can detect genes and inter-genic regions using the selection rate and detect select
215 Modifications in methylation patterns within genic regions were often associated with transcriptional
216 s induces a large number of DHSs enriched in genic regions which are frequently associated with diffe
218 Comparison of RF number and position on genic regions with fragmented total and polysomal mRNA i
219 sical boundaries and genomic organization of genic regions with noncoding transcripts often overlappi
221 of the insertion/deletion events occurred in genic regions, and new Alu insertions occurred in exons
222 y applying a focal points approach to enrich genic regions, but also to reach a uniform coverage of n
223 ding genes, H3T3ph density was minimal in 5' genic regions, coincidental with a peak of H3K4me3 accum
224 epositing histone variant H3.3 into distinct genic regions, including promoters, enhancers, and gene
226 ly capture pathogenic non-coding variants in genic regions, resulting in overlooking synonymous and i
227 motif; notably, 80% of these were located in genic regions, suggesting that these sequences may fold
228 s a remarkable preference for insertion into genic regions, which makes it particularly suited for ge
229 ocalization analysis reveals CBX3 binding at genic regions, which strongly correlates with gene activ
230 t CpG islands and other genomic sites within genic regions, which then spread across most genic regio
242 tion of transposable element insertions near genic regulatory elements followed by positive selection
244 >8200 tumor-normal pairs, we discover broad genic repression domains (BGRD) on chromatin as an epige
245 effects would occur for quantitative, multi-genic resistance, but found that the HAD Gain increased
249 the milieu of repeat elements and other non-genic sequence features at a given chromosomal locus, he
251 ous Mutator-like elements (MULEs) that carry genic sequence(s), are potentially involved in generatin
252 s providing a picture of the distribution of genic sequences across the mapped portion of the genome.
255 tion relative to the genes in the region and genic sequences, later shown to be carried by two helitr
257 le; and de novo emergence from ancestral non-genic sequences, such that homologues genuinely do not e
260 lation of sequences devoid of genes, or 'non-genic' sequences, is expected to produce insignificant p
264 sity analysis based on a 36-plex genome wide genic-SNP assay grouped these genotypes into two major c
266 f the genome has a greater contribution than genic SNPs to the [AT]-increase observed between wild an
267 nking genes explained additional risk beyond genic SNPs, suggesting a potential regulatory role, but
268 s a near-comprehensive representation of the genic space that revealed the genomic context of key poi
278 ene expression, while an H3K27me3-containing genic state is associated with differentially expressed
280 ing data revealed A. azarai to have a unique genic structure for AVPR1A that varies in coding sequenc
282 he use of WGS to delineate all genic and non-genic susceptibility variants in research and in clinica
283 ere, we employed prostate-specific murine bi-genic systems to investigate the effects of gain and los
286 trasomy leads to an enhanced accumulation of genic TE insertions, some of which likely contribute to
287 structural sequence motif enriched near the genic termini of the pathogenic Actinobacteria, Mycobact
289 e genome and are more likely to occur in the genic than intergenic regions, especially common in the
290 suppress intragenic cryptic promoters during genic transcription and to repress gene promoters by tra
291 The results suggest that intergenic and genic transcription complexes are independent and possib
294 luded a higher ratio of anti-sense and inter-genic transcripts, reflecting a pervasive transcription
295 ilitated by the pervasive translation of non-genic transcripts, which exposes a reservoir of variable
297 d to genetic variants located outside genes, genic variants are more likely to affect disease risk.
298 The new entropy-based approach considers genic variants within one gene simultaneously and is dev
300 de and statistical evidence of enrichment at genic versus non-genic loci for these traits, as compare