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1 ng of a 1.8-kb transcript lacking the second exon.
2 retained intron and overlaps the alternative exon.
3 tween long inverted repeats upstream of each exon.
4 ich differ in the utilization of an internal exon.
5 tial GC content between adjacent introns and exons.
6 nation types, involving initial and terminal exons.
7 of splicing regulatory sequences across the exons.
8 pping or large genomic deletions that delete exons.
9 non-coding introns from pre-mRNAs and joins exons.
10 chinery to a protein modification that marks exons.
11 ng platforms that supply promoters and first exons.
12 y exceeding that found within protein-coding exons.
13 of several protein fragments encoded by HTT exon 1 by using the associative memory, water-mediated,
14 ombination of both terminal additions in HTT exon 1 fragment leads to a complex aggregation mechanism
15 ical free energy profiles are uphill for HTT exon 1 fragments having 20 or 30 glutamines, the aggrega
16 e pathology in mouse models and that the HTT exon 1 gene product can self-assemble into amyloid struc
18 ed CRISPR/Cas9 vectors designed to juxtapose exon 1 of Dnajb1 with exon 2 of Prkaca to create the Dna
19 lants examined, sequences closely resembling exon 1 of SRK have been found, but the function of these
21 e, caused by expansion of the polyQ tract in exon 1 of the Huntingtin protein (Htt), is associated wi
22 mozygous nonsense mutation was identified in exon 1 of the TYR gene, with the substitution of a cytos
23 na-fide T3 phosphorylation alters Huntingtin exon 1 protein conformation and aggregation properties.
26 tion of N-terminal fragments (encoded by HTT exon 1) underlies the disease pathology in mouse models
27 e lines introducing premature stop codons in exon 1, as well as obtained an abcd1 allele from the Zeb
32 whether the accumulation of an amyloidogenic exon-1 fragment of mutant huntingtin (mHTTx1) modulates
33 n the extended polyglutamines (polyQ) within exon-1 of Huntingtin protein (Htt) and age onset of Hunt
34 anded polyglutamine (polyQ) sequences in the exon-1 region of mutant huntingtin plays a central role
38 found that inhibition of Dyrk1A enhanced tau exon 10 inclusion, leading to an increase in 4R-tau/3R-t
40 CYP24A1, but also increased expression of an exon 10-skipped CYP24A1 splice variant; in a minigene mo
43 d a previously unreported de novo variant in exon 11 (p.Gly487Cys), which we modeled to determine its
49 ement in GIST patients harboring the non-KIT exon 11 mutation and should be considered the standard o
51 largest lesion (smaller), and KIT mutation (exon 11) were significant prognostic factors for the pro
55 two competing alternative 5' splice sites in exon 12 yield Esrp1 isoforms with differential nucleocyt
56 th NMDA receptor gene Grin1 exon 4, and Enah exon 12, all consistent with a change in SCN RBFOX activ
57 ch the first common exon of the ZC3H14 gene, exon 13 is removed (Zc3h14Deltaex13/Deltaex13) leading t
58 nchymal-epithelial transition (MET) near the exon 14 splice sites are recurrent in lung adenocarcinom
63 rsus EGFR-TKI, age, performance status, EGFR exon 19 mutation, and absence of extracranial metastases
64 nterneurons express only isoforms containing exon 1b, whereas excitatory principal cells express exon
68 designed to juxtapose exon 1 of Dnajb1 with exon 2 of Prkaca to create the Dnajb1-Prkaca gene fusion
69 o-oncogene (c.1799T>A [V600E]; BRAFV600E) or exon 2 of the KRAS proto-oncogene (KRAS) in the primary
70 >isoleucine mutation in the 33rd position of exon 2 of TTR in 1 patient of 1 pedigree, confirming the
71 re5 binds RNA in vivo, with a preference for exon 2 regions of intron-containing pre-mRNAs and poly(A
72 he huntingtin gene does not always splice to exon 2 resulting in the production of a small polyadenyl
73 We describe a pseudogene sharing homology to exons 2 through 5 of human CD59 present in the C. porcel
75 f Gly770 into two dacomitinib-resistant EGFR exon 20 insertion mutants restored sensitivity to dacomi
76 igated the effects of specific EGFR and HER2 exon 20 insertion mutations from NSCLC patients that had
78 enome editing efficiently excised the mutant exon 23 in dystrophic mice, and immunofluorescence data
80 N/23aIN mouse brain lysates, confirming that exon 23a inclusion inhibits Nf1 RasGAP activity in vivo
81 n which the splicing signals surrounding Nf1 exon 23a were manipulated to increase exon inclusion.
85 tions, we determined that the first 22 bp of exon 3 contain cis-acting elements that enhance the excl
86 is survivin DEx3, in which the exclusion of exon 3 generates a unique carboxyl terminus with specifi
88 nsitive alternative splicing of its terminal exon 3' untranslated region, generating an oncogenic, C-
89 tected a heterozygous c.305T>C alteration in exon 3, which causes a leucine to serine substitution at
91 identified a deletion in a patient spanning exon 35 as a result of a recombination event between fla
92 roximately 17Kb large deletion including the exon 4 and exon 5 of RP2 gene was found in an XLRP famil
94 o exclusion of both NMDA receptor gene Grin1 exon 4, and Enah exon 12, all consistent with a change i
95 ut altering physical dependence, whereas the exon 4-associated truncation in mE4M-B6 mice facilitated
96 over G protein activation compared with the exon 4-associated variant, suggesting an interaction of
97 studies indicated a relatively high ratio of exon 4-excluded neuro-oncological ventral antigen 1 (Nov
99 g (AS) that occurs at the final coding exon (exon 47) of the Cav2.1 voltage-gated calcium channel (VG
100 0 indexed by a nonsynonymous SNP mutation on exon 5 of a bHLH transcription factor was found to eleva
102 ed when targeting each allele of rs362331 in exon 50 of the HTT transcript; this selectivity was also
103 rsen, an antisense oligonucleotide targeting exon 51: an open label study including 12 patients; a ph
104 an receptor CD44V6 (CD44 containing variable exon 6 (v6)) for differentiation of lung fibroblast to m
106 17 (P =1.27 x 10-303), a known coding SNP in exon 6 that is associated with a 0.06 g/l ( approximatel
107 an receptor, CD44V6 (CD44 variant containing exon 6), which enhances the TGFbeta1 autocrine signaling
109 avours the production of transcripts lacking exon 7 and a rapidly degraded non-functional SMNDelta7 p
111 at binds the SMN2 messenger RNA and promotes exon 7 inclusion and thus increases full length SMN expr
113 y to reprogram pre-mRNA splicing and restore exon 7 inclusion in SMN1 carrying a broad spectrum of pa
115 Here, we have identified 3 mutations in exon 7 of NTN1 in 2 unrelated families and 1 sporadic ca
119 n SCN gene transcripts; inclusion of Cacna1c exon 7, and also exclusion of both NMDA receptor gene Gr
120 ciated variant, suggesting an interaction of exon 7-associated C-terminal tails with beta-arrestin 2
128 interaction with the intronic 3 site of NUMB exon 9 contributing to regulation of the Notch pathway i
129 e associated with favorable RFS, whereas KIT exon 9 mutations were associated with unfavorable outcom
131 the two newly discovered exons of the gene, exons 9beta and 9gamma, generated by alternative splicin
135 coverage is both local (coverage of a given exon across different platforms) and global (coverage of
138 ught to determine the contributions of nsp14 ExoN activity in the induction of and resistance to the
139 ur data suggest murine hepatitis virus (MHV) ExoN activity is required for resistance to the innate i
140 r an RNA modification act on viruses lacking ExoN activity.IMPORTANCE CoVs encode multiple antagonist
141 dentified protein-coding genes, with skipped exon and alternative first exon being the most frequentl
144 e spliceosomal C complex with the cleaved 5' exon and lariat-3'-exon bound to the catalytic centre re
145 show that m(6)A methylations are enriched in exons and are added to transcripts prior to splicing.
148 y only one gene, titin comprises hundreds of exons and has the potential for enormous diversity.
149 of a large 2-kb transcript composed of four exons and one consisting of a 1.8-kb transcript lacking
153 accuracy in rice (0.5648 for CDS, 0.4468 for exon, and 0.6695 nucleotide structure) and A. thaliana (
157 gene coding, which removes introns and joins exons, and splicing branchpoints are indicators for the
163 mplex with the cleaved 5' exon and lariat-3'-exon bound to the catalytic centre revealed that branchi
164 only explain diversity gradients near intron-exon boundaries if the conversion template comes from ou
165 avoid conserved functional regions, such as exons, but, somewhat surprisingly, also avoid introns.
169 68 RNA binding sites flank the Neurexin2 AS4 exon, compared with those flanking the Neurexin1 and Neu
171 8 isoforms, including three from novel first exons consistent with existing transcription start site
173 lated with splicing efficiencies, suggesting exon definition as the step affected by most mutations.
174 m(6)A is added to exons before or soon after exon definition in nascent pre-mRNA, and while m(6)A is
175 ceosome A complex formation, and facilitates exon definition through RBM39-mediated splicing regulati
176 icing factor 2 (SRSF2), a crucial protein in exon definition, but only when Lys-77 is unmethylated.
177 algorithm to detect rare, intragenic, single-exon deletion CNVs using WES data; this tool can be usef
178 nables direct editing of the mutation, multi-exon deletion or complete gene correction via homologous
180 Prp22 binds nucleotides 15 to 21 in the 3' exon, enabling it to pull the intron-exon or ligated exo
186 hly expressed genes with distant alternative exons exhibit coordination, showcasing the need for long
187 plicing (AS) that occurs at the final coding exon (exon 47) of the Cav2.1 voltage-gated calcium chann
188 encing data, utilizing information from both exon-exon junctions and discordant paired-end reads.
189 ng RNA-seq, we examined whole-exome gene and exon expression in non-psychiatric controls (CON, N=29),
190 L investigation of microarray-based gene and exon expression levels in whole blood in a cohort of 525
191 of CRAM, bigwig and bedGraph files, gene and exon expression quantification matrices (Fragments Per K
192 d standardized alignment as well as gene and exon expression quantification of all public bulk (and i
195 ity of miR-122 binding on 3' UTRs and coding exons followed by extensive binding to other genic and n
196 undergo somatic hypermutation (SHM) of V(D)J exons followed by selection for SHMs that increase antig
197 mbinatorial assembly of IgH and IgL V region exons from gene segments generates preimmune Ig repertoi
200 ch higher percentage of genes ( 20% of multi-exon genes) undergo AS than previously reported (3-5%).
201 ition; moreover, flanks at the 5' end of the exons have significantly lower SSM density than at the 3
203 t case of alternative splicing of duplicated exon in a mollusc that produces a novel variant adaptive
204 abling it to pull the intron-exon or ligated exons in a 3' to 5' direction to achieve 3'-ss proofread
205 ve splicing, including inclusion of A-T rich exons in target genes, a phenomenon that has previously
206 ass 2A member 1 gene (MAN2A1) and the last 6 exons in the FER tyrosine kinase gene (FER), called MAN2
207 the product of a fusion between the first 13 exons in the mannosidase alpha class 2A member 1 gene (M
210 lls RNA polymerase II occupancy of all SALL4 exons increased, suggesting CpG demethylation downstream
212 serting functional rearranged human variable exons into the mouse IgH and IgL loci has been used to e
215 of a transcription factor through changes in exon-intron organization and thereby supported the evolu
220 cases, such as MAPT Coordination of internal exons is found to be extensive among protein coding gene
222 icing complexes assembled at the alternative exon lead to inefficient splicing and intron retention.
223 scriptome assemblies: incomplete annotation, exon level differences, transcript fragmentation and inc
225 st frequency of candidate-causal eQTLs using exon-level RNA-Seq, and identified novel SLE susceptibil
231 nucleotides that is inserted into the coding exon of a target gene using CRISPR/Cas9 technology and h
232 tretch of guanine-rich sequence in the first exon of hTERT and located within the CTCF-binding region
233 f Imprinted Sites (BORIS) at the alternative exon of Pyruvate Kinase (PKM) is associated with cancer-
235 ominant 7-base-pair duplication in the first exon of the forkhead box I3 gene (FOXI3) shared by all t
237 of CCCTC-binding factor (CTCF) to the first exon of the hTERT gene can down-regulate its expression.
238 generated a mouse in which the first common exon of the ZC3H14 gene, exon 13 is removed (Zc3h14Delta
239 (c.2737C>T [p.Arg913Ter]) in the penultimate exon of ZSWIM6 who have severe-profound intellectual dis
240 Damaging, nonsynonymous PZMs within critical exons of prenatally expressed genes were more common in
241 and cytosine DNA methylation are elevated at exons of spliced genes and have been implicated in the r
243 riants reveals that the two newly discovered exons of the gene, exons 9beta and 9gamma, generated by
245 ulti-region' track display configuration for exon-only, gene-only and custom regions visualization; n
246 the 3' exon, enabling it to pull the intron-exon or ligated exons in a 3' to 5' direction to achieve
247 fication matrices (Fragments Per Kilobase Of Exon Per Million Fragments Mapped, Transcripts Per Milli
248 y identify quadruplex formation in the first exon promoted by CpG dinucleotide methylation as a regul
250 When bound upstream or within regulated exons PTBP1 tends to promote their skipping, whereas bin
252 expression levels of 20 genes and sequenced exon regions of 8 genes (HNF1A, IL6ST, CTNNB1, FRK, STAT
258 conducted genome-wide mRNA profiling and DNA exon sequencing of two cell lines (TMD and BMD) derived
261 Rgs16 Interestingly, the lack of the second exon significantly decreased AK144841's inhibitory effec
263 processing, alternative 5 and 3'ss usage and exon skipping are marked by distinct patterns of ordered
264 ory circuit of sense-antisense pairs and the exon skipping during alternative splicing, through inter
265 p a new target function for AS prediction in exon skipping events and show it significantly improves
267 t some single-guide RNAs (sgRNAs) can induce exon skipping or large genomic deletions that delete exo
270 Mutations at splice junctions often cause exon skipping, short deletions, or insertions in the mat
273 splicing modulator-induced intron-retention/exon-skipping profile, which correlates with the differe
276 HC reduces insertion of the stress-regulated exon (STREX) in the KCNMA1 gene, permitting protein kina
277 more KCNMA1 containing the stress-regulated exon (STREX), a splice-variant of the alpha-subunit that
278 show that in ants such as H. saltator, the 9-exon subfamily of odorant receptors (HsOrs) responds to
279 ions were located in the last or penultimate exon, suggesting escape from nonsense-mediated mRNA deca
280 us, and an isoform containing an alternative exon that targets the transcript for nonsense mediated d
281 6029 revealed an 11-bp deletion in the first exon that was predicted to result in a premature stop co
282 (that can be assembled into variable region exons that encode bnAb precursors), have been engineered
284 produces 34.5% and 36.3% more correct multi-exon transcripts than StringTie and TransComb, and respe
286 e we show the consequences of germline final-exon-truncating mutations in REST for organismal develop
288 g human myogenesis reveals that CDM-relevant exons undergo prenatal RNA isoform transitions and are p
291 orms in SCN and cerebral cortex that exhibit exon variation across two protein domains, we found a 3-
292 nce of an IFN-beta-mediated antiviral state, ExoN(-) viral RNA levels were not substantially reduced
293 decreased relative fitness, suggesting that ExoN(-) virus generated during an antiviral state is les
297 ) encodes 3'-to-5' exoribonuclease activity (ExoN), which performs a proofreading function and is req
298 uses are the only RNA viruses that encode an ExoN, which functions to degrade double-stranded RNA (ds
299 ich an MT LTR provided a promoter and the 5' exon with a functional start codon while the bulk of the
300 scribed genes that, in rare cases, comprised exons with orientations and frames compatible with expre
301 were developed primarily for detecting gene exons within eukaryotic genomes and were therefore optim
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