ライフサイエンスコーパス: exon skip

1 ucture and function (e.g., intron retention, exon skipping).

2 berrant mRNAs lacking specific coding exons (exon skipping).

3 ring exons 6 and 9 closer, thereby promoting exon skipping.

4 s in the transcriptional elongation rate and exon skipping.

5 d by antisense oligonucleotide (AO)-mediated exon skipping.

6 ention, and Sudemycins more acute effects on exon skipping.

7 f a single residue was sufficient to prevent exon skipping.

8 raction with these exonic sequences promotes exon skipping.

9 US1 splicing, including intron retention and exon skipping.

10 a recurrent silent third base change, cause exon skipping.

11 on in a splice donor site predicted to cause exon skipping.

12 nt malignancies to estimate the rate of said exon skipping.

13 r the observed 100% intron retention without exon skipping.

14 cing, whereas the common SNP A1028A promoted exon skipping.

15 lar mechanism by which this element prevents exon skipping.

16 rease exon inclusion but that CUG-BP1 causes exon skipping.

17 insufficient hDBR1 leads to a higher rate of exon skipping.

18 tion of antisense oligonucleotides to induce exon skipping.

19 ts, of which 53.5% are IntronR and 13.8% are exon skipping.

20 intron retention (IntronR), and only 8% are exon skipping.

21 m trans-splicing, and circular exons through exon skipping.

22 ced as a result of mRNA frameshift caused by exon skipping.

23 sults in a unique pattern of tissue-specific exon skipping.

24 ucleotides could be used to correct aberrant exon skipping.

25 nits with different specificities to promote exon skipping.

26 plicing enhancer (ESE), thereby resulting in exon skipping.

27 e sequences in the dystrophin gene to induce exon skipping.

28 5' splice sites and determined the effect on exon skipping.

29 ition +3 with a purine resulted in increased exon skipping.

30 ingle-nucleotide difference in exon 7 causes exon skipping.

31 icing enhancer (ESE) sequences, resulting in exon skipping.

32 nterfere with exon recognition, resulting in exon skipping.

33 tivity and that two splicing mutations cause exon skipping.

34 ls of 3'-end formation and in the absence of exon skipping.

35 ranchpoint of intron 2 dramatically enhances exon skipping.

36 re disease course than those amenable to any exon skipping.

37 , restoring functional dystrophin protein by exon skipping.

38 nd found that the majority resulted in total exon skipping.

39 inding domain, with alternative splicing and exon skipping.

40 urally mimic those that would be achieved by exon skipping.

41 tate recognition of splice sites and prevent exon-skipping.

42 n of exons is widespread and correlates with exon skipping, a feature that adds considerably to the r

43 echanistic explanation for the variations in exon-skipping activity and restoration of dystrophin pro

44 utation in the dystrophin gene showed strong exon-skipping activity in differentiated mdx mouse myotu

45 olino oligomers (PMOs) with glucose enhances exon-skipping activity in Duchenne muscular dystrophy (D

46 es, higher expression of hDBR1 only affected exon-skipping activity in malignant cells.

47 he RS/P domain and RRM are necessary for the exon-skipping activity, whereas the S domain is importan

48 Exon skipping adds to the unexpected outcomes that must

49 Antisense-oligonucleotide-induced exon skipping allows synthesis of partially functional d

50 as validated by qRT-PCR experiments on eight exon skipping alternative splicing events.

51 wn genes have only a single isoform based on exon-skipping alternative expression.

52 ucted and analyzed a large data set of 1,478 exon-skipping alternative splicing (AS) variants evoluti

53 These novel variants resulted either from exon skipping, alternative usage of splicing signals, or

54 Further, we showed that exon skip and intron retention are predominant splice ev

55 vitro studies revealed that it leads to mRNA exon skipping and ABCA4 protein truncation.

56 da-7 pre-mRNA is differentially spliced, via exon skipping and alternate 5'-splice donor sites, to yi

57 TDP-43 is a nuclear protein involved in exon skipping and alternative splicing.

58 splicing in minigene assays, and resulted in exon skipping and an in-frame deletion of 40 amino acids

59 rized by alternative splicing events such as exon skipping and complete or partial intron inclusion.

60 Exon skipping and cryptic splicing were confirmed by tra

61 had a recessive mutation in PIGQ that led to exon skipping and defective glycophosphatidyl inositol b

62 e transversion in a splice donor site causes exon skipping and deletion of 51 amino acids in the CLOC

63 The mutation leads to exon skipping and deletion of 52-amino acid residues of

64 3' splice site is associated with increased exon skipping and disease.

65 these retroviral-derived exons and result in exon skipping and dysregulated alternative splicing of a

66 ementarities within each intron that prevent exon skipping and ensure inclusion of internal exons.

67 ply to other molecular strategies, including exon skipping and gene therapy.

68 The ASOs promote aberrant exon skipping and generation of premature termination co

69 A-to-I editing demonstrate that both the Alu exon skipping and inclusion isoforms encode active enzym

70 mt3 gene knockdown, and change in two types, exon skipping and intron retention, was directly related

71 The other transcripts exhibited exon skipping and lacked exon 3.

72 a splice donor-site mutation that results in exon skipping and loss of 407 bp from the PEX10 open rea

73 sence of novel transcriptomic events such as exon skipping and novel indels towards accurate downstre

74 onucleotide conjugate designed to induce Dmd exon skipping and recover dystrophin protein expression

75 merged as front-line molecular therapeutics: exon skipping and stop codon read through.

76 Regulation of exon skipping and tandem alternative 3' splice sites (NA

77 nic enhancers can act as barriers to prevent exon skipping and thereby may play a key role in ensurin

78 2 and FLT3 resulted from complete or partial exon skipping and utilization of cryptic splice sites.

79 ion in a different splice site, resulting in exon skipping and, in one case, a frameshift and prematu

80 led to a variety of consequences, including exon skipping and, to a lesser degree, intron retention,

81 dons from variable (V) Igkappa exons promote exon-skipping and synthesis of V domain-less kappa light

82 o repair the primary genetic defect, called 'exon skipping' and 'nonsense codon suppression'.

83 ecific overexpression of PTB increased alpha-exon skipping, and a reduction in PTB increased alpha-ex

84 utations, one causes a nonsense mutation and exon skipping, and one affects a splice site, were found

85 utic correction of many genetic diseases via exon skipping, and the first AON-based drugs have entere

86 one allele that caused aberrant splicing and exon skipping, and the other allele had an amino acid su

87 irst time the efficiency of the AAV-mediated exon skipping approach in the utrophin/dystrophin double

88 og model of Duchenne muscular dystrophy, the exon-skipping approach recently improved multiple functi

89 f embryonic dystrophin in zebrafish using an exon-skipping approach severely impairs the mobility and

90 or with other diseases that are eligible for exon-skipping approaches requiring whole-body treatment.

91 hat mutations within the repeat that abolish exon skipping are corrected by compensatory mutations in

92 The antisense oligonucleotides used for exon skipping are designed to bypass premature stop codo

93 ture but alternative donor/acceptor site and exon skipping are mainly induced, indicating differentia

94 processing, alternative 5 and 3'ss usage and exon skipping are marked by distinct patterns of ordered

95 In addition to exon skipping, ASO treatment causes intron retention and

96 NM1 protein is also predicted as a result of exon skipping associated with disruption of a consensus

97 mouse provides a favored system for study of exon skipping associated with nonsense mutations.

98 to do so in an mle(napts) background causes exon skipping because the normal splice donor is occlude

99 e reduction results from gradually increased exon skipping between exons 50 and 219 of titin mRNA.

100 ctivity, LaSSO identified both canonical and exon-skipping branch points.

101 NP M included the ability not only to induce exon skipping but also to promote exon inclusion.

102 SR proteins have also been reported to cause exon skipping, but little is known about the mechanism.

103 ta demonstrate that chimeraplasts can induce exon skipping by altering splice site sequences at the g

104 Exon skipping by ASOs is gaining traction as a therapeut

105 We demonstrate that Rbm20 mediates exon skipping by binding to titin pre-mRNA to repress th

106 functional dystrophin protein expression via exon skipping by restoring in-frame transcripts in the m

107 We have now expanded the potential for exon skipping by testing whether an internal, in-frame t

108 ion pressure on alternatively spliced single-exon skips, by calculating the fraction that are an exac

109 AS in BRCA1, we show here that inappropriate exon skipping can be reproduced in vitro, and results fr

110 Exon skips cause loss of inversin protein motifs, includ

111 DE9) expressed by cancer cells with MSI, via exon skipping caused by somatic deletions in the T(17) i

112 ssociated cryptic splice site activation and exon skipping caused by this mutation resulted in two ab

113 me deletions relevant to on-going or planned exon skipping clinical trials for Duchenne muscular dyst

114 to improve and better predict the outcome of exon skipping clinical trials.

115 uman muscle disease and showed that multiple exon skipping could be induced in RNA that encodes a mut

116 exon inclusion was not sequence-specific as exon skipping could be restored with insertion of nonspe

117 es, the upstream intron was removed, so that exon skipping could not occur.

118 ctive enzyme, and that alternative splicing (exon skipping) could contribute to the aberrant intracel

119 ellular trafficking correspond well with the exon-skipping data, with higher activity in myotubes tha

120 inine-rich proteins SC35 and ASF/SF2 promote exon skipping, decreasing the ratio of Ich-1S to Ich-1L

121 rtion, small in-frame deletions and a larger exon-skipping deletion.

122 ut mice, we now show that SR protein-induced exon skipping depends on their prevalent actions on a fl

123 chenne muscular dystrophy, the rationale for exon skipping derived from observations in patients with

124 oximately 80% cis), whereas species-specific exon skipping differences are driven by both cis- and tr

125 lection because gene splicing analysis shows exon skipping due to loss of the ESE.

126 ory circuit of sense-antisense pairs and the exon skipping during alternative splicing, through inter

127 s dramatically elevated as a result of alpha-exon skipping during RNA splicing.

128 Particularly, exon-skipping event in Enhancer of Zeste Homologue 2 (EZ

129 This exon-skipping event is associated with a mutation at the

130 ive complex PRC2, and the down-regulation of exon-skipping event may lead to the regain of functional

131 Finally, the protein encoded by the exon-skipping event, Delta7, was less stable than full-l

132 p a new target function for AS prediction in exon skipping events and show it significantly improves

133 GGAC identified by CoSREM may play a role in exon skipping events in several tumor samples.

134 On the other hand, exon skipping events were rare in coding regions (1%) bu

135 -PCR validation rate of 86% for differential exon skipping events with a MATS FDR of <10%.

136 mily within exons 3 and 4 contributes to the exon skipping events, although the most commonly observe

137 nges in pre-mRNA splicing with prevalence of exon skipping events.

138 ort splice variants of KV10.1 resulting from exon-skipping events (E65 and E70) in human brain and ca

139 lgorithm also aids in the discovery of micro-exon-skipping events and cross-species micro-exon conser

140 In addition, we observe exon-skipping events in c-MET, which are attributable to

141 Exon-skipping events increased in cells deficient for th

142 Interestingly, 29 exon-skipping events induced by treatment were identifie

143 iring by determining the number of incorrect exon-skipping events made from constitutively spliced pr

144 ations of tumor suppressor genes often cause exon-skipping events that truncate proteins just like cl

145 of all annotated introns, hundreds of novel exon-skipping events, and thousands of novel introns.

146 events, but also pinpointed novel, but rare, exon-skipping events, which may reflect aberrantly splic

147 rute-force algorithms to detect all possible exon-skipping events, which were widespread but rare com

148 t internally deleted dystrophins produced by exon skipping for different mutations; more insight woul

149 However, antisense oligonucleotide-mediated exon skipping for DMD still faces major hurdles such as

150 ophies, with an emphasis on gene therapy and exon skipping for DMD.

151 g the mutations in cell lines to demonstrate exon skipping from the deletion mutation and the activat

152 ystems but for which no previous examples of exon-skipping had been demonstrated.

153 Very probably, the resulting in-frame exon skip has a dominant-negative effect due to incorpor

154 In particular, antisense-mediated exon skipping has shown encouraging results and holds pr

155 As such, chimeraplast-mediated exon skipping has the potential to be used to transform

156 ns, antisense oligonucleotide (AON)-mediated exon skipping has the potential to restore a functional

157 uction by antisense oligonucleotides, termed exon-skipping, has been reported for the mdx mouse and i

158 EAAT2 mRNAs, including intron-retention and exon-skipping, have now been identified from the affecte

159 specificity was observed, with differential exon skipping in 5% of genes otherwise coexpressed in bo

160 verexpression of RNPS1 in HeLa cells induced exon skipping in a model beta-globin pre-mRNA and a huma

161 nes, were shown to cause intron retention or exon skipping in an allele-specific manner, with approxi

162 enous CD44 gene revealed that CARM1 promotes exon skipping in an enzyme-dependent manner.

163 Several cases of exon skipping in both normal controls and patients for w

164 a critical regulator of both signal-induced exon skipping in CD45 and global alternative-transcript

165 Given the success of exon skipping in clinical trials to treat genetic diseas

166 in widespread intron retention and cassette exon skipping in leukemic cells regardless of Srsf2 geno

167 tion was decreased due to the high levels of exon skipping in non-SM cell lines.

168 splice site recognition and contributing to exon skipping in nonneural cells.

169 Both substitutions have been associated with exon skipping in other genes.

170 t of a deep intronic/branch-site mutation on exon skipping in PTEN but also found that different spli

171 Mutant U2AF1 promotes enhanced splicing and exon skipping in reporter assays in vitro.

172 Such exon skipping in response to a PTC, but not a missense m

173 transgenes whose expression is activated by exon skipping in response to a specific protein inducer.

174 licing silencer in CD45 exon 4 confers basal exon skipping in resting T cells through the activity of

175 Multimerisation of the URE caused enhanced exon skipping in SM and various non-SM cells.

176 However, four exons are subject to exon skipping in some transcripts, giving rise to five s

177 ty of hnRNP L and confers activation-induced exon skipping in T cells via previously unknown mechanis

178 We identified a single exon skipping in the ATP7A transcript in cells from the

179 This element (In100) can facilitate exon skipping in the context of competing 3' or 5' splic

180 ted in a reduction of dystrophin protein and exon skipping in the diaphragm.

181 avenous oligonucleotide (morpholino)-induced exon skipping in the DMD dog model.

182 This, together with exon skipping in two noncontiguous regions, favors aberr

183 have previously been found to correlate with exon-skipping in both lymphocytes and tumors from patien

184 ession by antisense oligonucleotide-mediated exon-skipping in mdx mice and (2) stable restoration of

185 switching and differential exon usage (i.e., exon-skipping), in addition to its effects on gene expre

186 1 were shown to be critical determinants for exon skipping, indicating that LINE1 acts as efficient m

187 Therapeutic restoration of dystrophin by exon skipping induced widespread shifts in protein and m

188 rsity can be placed into four major classes: exon skipping, intron retention, alternative 5' splice s

189 ere discovered, which were generated through exon skipping, intron retention, and alternative usage o

190 ce-site mutations reveal complex patterns of exon skipping involving from one to four exons of the ki

191 Exon skipping is a common result of splice mutations and

192 Exon skipping is a promising therapeutic strategy for Du

193 to improve this therapeutic approach to DMD.Exon skipping is a strategy for the treatment of Duchenn

194 Antisense oligonucleotide-mediated exon skipping is able to correct out-of-frame mutations

195 Exon skipping is also more likely to occur when exons ar

196 Exon skipping is capable of correcting frameshift and no

197 Exon skipping is considered a principal mechanism by whi

198 Exon skipping is currently being tested in humans with d

199 ably, the effect of the nonsense mutation on exon skipping is incomplete.

200 Antisense-mediated exon skipping is one of the most promising approaches fo

201 gulatory role in the pathway leading to male-exon skipping is sans-fille (snf), a protein component o

202 Although SMN2 exon skipping is the principal contributor to SMA severi

203 analysis confirms that this mutation causes exon skipping, leading to an out-of-frame fusion of BRCA

204 The mutation leads to exon skipping, leaving the coding region in frame.

205 on in MYPT1 and switch to the 3' alternative exon skipped/leucine zipper positive MYPT1 isoform.

206 bi-specific CPP-PMOs demonstrated comparable exon skipping levels for both pre-mRNA targets when comp

207 ells, illustrating that SR protein-dependent exon skipping may constitute a key strategy for synergis

208 ve to neutral polymorphisms, indicating that exon skipping may play a prominent role in aberrant gene

209 transcript, indicating that it arises by an exon-skipping mechanism of alternative splicing.

210 e recurrent in lung adenocarcinoma and cause exon skipping (METDelta14).

211 tectable binding and signal transduction for exon-skipping mutated constructs.

212 We now report characterization of an exon-skipping mutation (IVS3+5G-->A at the intron 3 spli

213 e pathogenic allele in exon 41, including an exon-skipping mutation that induced an in-frame deletion

214 Patients with COL3A1 exon skipping mutations had higher plasma intercellular

215 Exon skipping mutations of the Hypocretin/Orexin-recepto

216 Functional analysis of previously-described exon-skipping mutations and of the E54K substitution wer

217 ced urticaria and immune dysregulation PLCG2 exon-skipping mutations resulting in protein products wi

218 Of the exon-skipping mutations that are due to single base subs

219 Finally, we describe two disease-related exon-skipping mutations that create hnRNP A1 binding sit

220 pecific alternative splicing events, such as exon skipping,mutually exclusive exons, alternative 3' a

221 usively intron retention, in contrast to the exon skipping observed in vertebrates.

222 The two-exon skip occurred in transcripts in which intron 5 was

223 mdx mice with morpholino oligomers to induce exon skipping of dystrophin exon 23 (that results in fun

224 rfan syndrome (MFS) patient induces in-frame exon skipping of FBN1 exon 51.

225 Duchenne muscular dystrophy, we propose that exon skipping of FcepsilonRIbeta is a potential approach

226 2a was common in all cardiac muscle samples, exon skipping of Myocd exon 10a was a rare event in both

227 and disrupted the developmentally regulated exon skipping of Ndel1 mRNA, which is bound by MBNL1 and

228 nsistent with the formation of GABA(B)R1c by exon skipping of one sushi domain module.

229 uch as antisense oligonucleotides, to induce exon skipping of specific mutations or drugs developed t

230 ivo using antisense oligonucleotide-mediated exon skipping of the beta-subunit of the high-affinity I

231 usly characterized SRSF1 (SF2/ASF)-dependent exon skipping of the CaMKIIdelta gene during heart remod

232 splicing of ClC-1 and that antisense-induced exon skipping offers a powerful method for correcting al

233 Here using exon skipping oligonucleotides we predominantly restored

234 t splicing resulting in either mis-splicing, exon skipping or inclusion of alternative exons, consist

235 ding near the 3' splice site promoted either exon skipping or inclusion.

236 ed across species that are generated through exon skipping or insertion that encodes proteins contain

237 t some single-guide RNAs (sgRNAs) can induce exon skipping or large genomic deletions that delete exo

238 The splice-site mutations led to exon skipping or utilization of cryptic acceptor-splice

239 in expression to diseased cells is known as 'exon skipping' or splice-modulation, whereby antisense o

240 influencing regulatory elements, leading to exon skipping, or by creating a new cryptic splice site.

241 This exon skipping phenotype was dependent on the size of the

242 ic matrices and that accurately predicts the exon-skipping phenotypes of deleterious point mutations.

243 Drug-induced exon skipping preferentially affects shorter alternative

244 Two drugs developed for exon skipping, PRO051 and AVI-4658, result in the exclus

245 We have reported previously that the exon-skipped product SMNDelta7 is partially defective fo

246 nd the nuclear exosome in the degradation of exon-skipped products is also observed for three other g

247 splicing modulator-induced intron-retention/exon-skipping profile, which correlates with the differe

248 inability of splice site mutations to cause exon skipping-properties suggesting that the intron rath

249 ligonucleotides) in DMD pre-mRNA can lead to exon skipping, restoration of the open reading frame, an

250 AON-induced exon skipping resulted in specific Alk4 down-regulation,

251 ssociated with increased polyadenylation and exon skipping, resulting from the actions of ELL2 transc

252 ed a novel computational method, graph-based exon-skipping scanner (GESS), for de novo detection of s

253 of several alternative methods shows that an exon-skipping score based on neighboring junctions best

254 Mutations at splice junctions often cause exon skipping, short deletions, or insertions in the mat

255 reading-frame in both the exon-inclusion and exon-skip splice forms.

256 ence conferring competitive advantage to the exon-skipping splicing event (E8-E10).

257 turn confers a competitive advantage to the exon-skipping splicing pattern.

258 cided with the switch from exon inclusion to exon skipping, suggesting that loss of TIA and SR enhanc

259 on resulted in in vivo intron inclusion, not exon skipping, suggesting the presence of intron bridgin

260 erved in patients with mutations amenable to exon skipping than in those not amenable.

261 t a novel mechanism for altered splicing and exon skipping that is independent of traditional introni

262 r defects (point mutations, deletions due to exon skipping) that were suggested as a potential molecu

263 This causes exon skipping, the in-frame deletion of 46 amino acids f

264 o all three families and was shown to induce exon skipping; the other mutations were frameshift mutat

265 Exon-skipping therapies aim to convert Duchenne muscular

266 neuropathy, and promising gene transfer and exon-skipping therapies for muscular dystrophy are among

267 ame deletions and insertions are targeted by exon-skipping therapies.

268 oligomers (PMOs) has shown great promise for exon-skipping therapy of Duchenne Muscular Dystrophy (DM

269 ing adeno-associated virus (AAV)-U7-mediated exon-skipping therapy was shown to decrease drastically

270 tant implications for the development of DMD exon-skipping therapy.

271 Although very effective in correcting exon skipping, they also induced retention of the short

272 A switch from cTNT exon skipping to inclusion tightly correlated with induc

273 ng either intron self-complementarity allows exon skipping to occur, and restoring the complementarit

274 ne, read-through of translation stop codons, exon skipping to restore the reading frame and increased

275 ts, including nonsense codon suppressors and exon skipping, to gene therapy using viral and nonviral

276 These exon-skipping transcripts are therefore unlikely to be f

277 The pervasive exon-skipping transcripts were stochastic, did not incre

278 nsertion into a splice donor site results in exon skipping, translational frameshift, and protein tru

279 strophy with deletions relevant for on-going exon skipping trials in Duchenne muscular dystrophy.

280 srupts normal MLH1 mRNA processing, and that exon skipping underlies pathogenesis in these HNPCC fami

281 ad to a limited array of products, including exon skipping, use of cryptic splice-acceptor or -donor

282 Exon skipping uses antisense oligonucleotides (ASOs) to

283 Exon skipping uses antisense oligonucleotides as a treat

284 and dystrophin production can be achieved by exon skipping using antisense oligonucleotides targeted

285 4-8) corresponding to LBD to produce namely exon-skipping variants.

286 The average splicing rate by exon skipping was approximately 0.24% in wild type and a

287 Exon skipping was confirmed by reverse transcription-pol

288 ansfected human astrocytoma cell line, alpha-exon skipping was consistently observed for RNA transcri

289 No correlation of exon scrambling with exon skipping was found, and there was no particular ten

290 Exon skipping was the major splicing event observed.

291 of dominant-negative GH mutations that cause exon skipping, we found two mutations that do not occur

292 To prevent exon-skipping, we have targeted an intronic repressor, E

293 ms for internal alternative cis-splicing and exon skipping were active in multiple life cycle stages

294 Both exon inclusion and exon skipping were found to post-transcriptionally regul

295 s to the COP1 gene in Arabidopsis which show exon skipping were identified and the mutations which al

296 ing enhancer (ESE), for example, could cause exon skipping which would result in the exclusion of an

297 ncated reading frame upstream of the IRES by exon skipping, which led to synthesis of a functional N-

298 induced jdf2 mutant alleles, each leading to exon skipping with premature termination of translation

299 sma cells, enhanced both polyadenylation and exon skipping with the gene encoding the immunoglobulin

300 All exons are in-frame, allowing exon skipping without disrupting the reading frame.