ライフサイエンスコーパス: splicing

1 targeting TTK (mitotic exit) and CLK2 (mRNA splicing).

2 oplast RNA processing beyond group II intron splicing.

3 ndent and independent control of alternative splicing.

4 S duplexes to drive spliceosome assembly and splicing.

5 extensive network remodeling by alternative splicing.

6 teins via its role in governing MVC pre-mRNA splicing.

7 d changes in gene expression and alternative splicing.

8 hy affection status and altered cardiac LMNA splicing.

9 expression, chromatin accessibility, and RNA splicing.

10 isoforms can be derived through alternative splicing.

11 nriched among genes that undergo alternative splicing.

12 fferences between lincRNAs and mRNAs involve splicing.

13 tiation is regulated by alternative pre-mRNA splicing.

14 the kinetics of transcription elongation and splicing.

15 t may act in both transcription and pre-mRNA splicing.

16 ng that it could play a key role in pre-mRNA splicing.

17 is added to the 5'end of each mRNA by trans-splicing.

18 he regulation of premessenger RNA (pre-mRNA) splicing.

19 minigene splicing assay to confirm aberrant splicing.

20 h changes in gene expression and alternative splicing.

21 ining splice site alleles revealed errors in splicing.

22 ic length and silencer density tend to delay splicing.

23 e sites (SS) and branchsite (BS) used during splicing.

24 exons and are added to transcripts prior to splicing.

25 introns and exons and regulates alternative splicing.

26 e determination of the p53beta following its splicing.

27 ly spliceosome and regulators of alternative splicing.

28 e sudemycin compounds that modulate pre-mRNA splicing.

29 unction of PTBP1 and its role as a bona fide splicing activator.

30 NTD, drastically reducing TDP-43's in vitro splicing activity and inducing aberrant localization and

31 This impaired DI splicing affects proliferation genes, whose downregulati

32 We report the complexity of alternative splicing along isoforms, including 683 intra-molecularly

33 Alternative splicing also changes the activity of sodium channels, a

34 mains unclear, but recent data indicate that splicing alterations modulated by both inflammation and

35 s V31R and T32R abolished TDP-43 activity in splicing and aggregation processes, and even the rather

36 emonstrate the interplay between alternative splicing and alternative polyadenylation, and it is thei

37 d to encode two proteins through alternative splicing and alternative polyadenylation.

38 Ts) function in both intron mobility and RNA splicing and are evolutionary predecessors of retrotrans

39 A binding proteins reflecting its endogenous splicing and biogenesis.

40 tion sites involved in transcription and RNA splicing and decreased abundance of enzymes in lipid syn

41 The absence of Bre5 led to impaired splicing and defects in RNAPII elongation in vivo on a s

42 plicated in coupling transcription with mRNA splicing and DNA damage response.

43 in which ERK/EGR1 signaling promotes CD44V6 splicing and found that CD44V6 then sustains ERK signali

44 lice site mutation affecting adgra2 (gpr124) splicing and function.

45 ve analysis of transcriptome-wide changes to splicing and gene expression associated with SF3B1 mutat

46 to model the association between alternative splicing and histone posttranslational modifications in

47 hat H2A.Z is required for efficient pre-mRNA splicing and indicate a role for H2A.Z in coordinating t

48 at the alternative exon lead to inefficient splicing and intron retention.

49 enriched neurotrophin, undergoes alternative splicing and is implicated in several neurological disor

50 c insight into the regulation of IL7R exon 6 splicing and its impact on MS risk.

51 lic-PO4 and 5'-OH ends inflicted during tRNA splicing and non-canonical mRNA splicing in the fungal u

52 cellular maintenance pathways, including RNA splicing and nuclear-cytoplasmic transport have been inc

53 is region on gene expression and alternative splicing and performed quantitative chromatin immunoprec

54 ong non-coding RNAs (lncRNAs), undergo trans-splicing and polyadenylation.

55 in biosynthesis pathway, such as alternative splicing and post transcriptional and translational modi

56 ound that Domain 2 is subject to alternative splicing and provide evidence that this domain was origi

57 le played by the tissue-specific alternative splicing and relative abundance of the OsPCS2 gene durin

58 atment of U2AF1(S34F) transgenic mice alters splicing and reverts haematopoietic progenitor cell expa

59 r subunits, many of which are diversified by splicing and RNA editing, localize to >20 excitatory and

60 ve MEK significantly alters TDP-43-regulated splicing and that phosphomimetic substitutions at these

61 y and revealing unexpected surprises in mRNA splicing and the genetic code.

62 ther JMJD6 is widely involved in alternative splicing and the molecular mechanism underlying JMJD6-re

63 hog/INTein (HINT) domains catalyzing protein splicing and their nested HEN domains are thought to be

64 Three of the 5 identified mutations impaired splicing, and 2 resulted in a truncated protein.

65 was required for a subset of JMJD6-regulated splicing, and JMJD6-mediated lysine hydroxylation of U2A

66 uencing confirmed the effect of hDBR1 on RNA splicing, and metabolite profiling supported the observa

67 activation mechanism for mRNA 3' processing, splicing, and potentially other steps in RNA metabolism.

68 ic splicing code models, we find evidence of splicing antagonism between CELF2 and the RBFOX family o

69 Small molecule inhibitors of pre-mRNA splicing are important tools for identifying new spliceo

70 While m(6)A factors with additional roles in splicing are lethal, m(6)A-specific mutants are viable b

71 otifs, constitute much of cell-type-specific splicing, are highly dynamic during cellular transitions

72 tionally interact, affecting mRNA export and splicing as well as plant development.

73 genome, and identify genome-wide alternative splicing (AS) and alternative polyadenylation (APA) in t

74 Aberrant alternative pre-mRNA splicing (AS) events have been associated with several d

75 Networks of coordinated alternative splicing (AS) events play critical roles in development

76 Alternative splicing (AS) that occurs at the final coding exon (exon

77 This splicing assay can be used to explore in detail how HIV-

78 tize VUS and developed a cell-based minigene splicing assay to confirm aberrant splicing.

79 Through chimeric minigenes splicing assay we investigated the unique elements regul

80 pported by genetic interactions and pre-mRNA splicing assays.

81 een learned about how these mutations affect splicing at a global- and transcript-specific level, cri

82 use of alternative promoters and alternative splicing at the foraging locus creates diversity and fle

83 ents have identified a great number of human splicing branchpoints, but many branchpoints are still u

84 that PHF5A-Y36C has minimal effect on basal splicing but inhibits the global action of splicing modu

85 library approach cannot detect differential splicing, but has potentially higher throughput at a low

86 different genes, promoters, and alternative splicing, but the functional significance of this evolut

87 In particular, SRp55-mediated splicing changes modulate the function of the proapoptot

88 ion with sequence features and probabilistic splicing code models, we find evidence of splicing antag

89 onsistent with a model in which unproductive splicing complexes assembled at the alternative exon lea

90 Alternative splicing contributes to gene expression dynamics in many

91 confirming our previously published cases of splicing coordination (e.g., BIN1), the greater depth re

92 oding sequences, suggesting a larger role of splicing coordination in shaping proteins.

93 A-binding proteins that regulate alternative splicing decisions through interactions with the splicin

94 tant mice is blocked due to a precursor mRNA splicing defect that depletes the protein GON4-like (GON

95 DM1 mouse model has been shown to rescue the splicing defects and reverse myotonia.

96 We discovered that the alleles causing splicing defects cluster in disease-associated genes (fo

97 causing RNA processing defects, for example, splicing defects.

98 anel as a flexible platform for the query of splicing-dependent chromatin modifications.

99 ouse muscle and demonstrate that alternative splicing developmental transitions impact muscle physiol

100 ther popular methods, while for differential splicing, DEXSeq was simultaneously the most sensitive a

101 A new study finds that splicing disruption is a frequent consequence of mutatio

102 We observe extensive splicing diversity leading to the formation of altered o

103 Furthermore, analysis of alternative splicing during human myogenesis reveals that CDM-releva

104 The alternative splicing effects of FTO KO anti-correlate with METTL3 kn

105 The splicing effects of sudemycin and U2AF1(S34F) can be cum

106 35, U2AF65, U1A, and U1-70K) correlated with splicing efficiencies, suggesting exon definition as the

107 The change in splicing efficiency could however not be linked to any e

108 he expression of over thousands of genes and splicing efficiency in over 140 introns were affected.

109 TSEN54, which encodes a subunit of the tRNA splicing endonuclease complex.

110 ely due to the action of a putative intronic splicing enhancer present in intron 25, which appeared t

111 These could serve as intronic splicing enhancers.

112 AS rates correlate with the fitness cost of splicing errors.

113 adaptive substitutions and are more prone to splicing errors.

114 Previously, we reported that this splicing event is highly dysregulated in aggressive form

115 l initiation and elongation, and alternative splicing events in ES cells.

116 Our analyses also revealed multiple novel splicing events supported by more reads than previously

117 We suggest RSF, a tool for identifying novel splicing events, is applicable to study a range of disea

118 st partially, their co-regulated alternative splicing events, suggesting both JMJD6 enzymatic activit

119 equencing junction expression identified 109 splicing events, which were confirmed in a validation se

120 P binding sites, especially those related to splicing events.

121 EIDS), for the identification of alternative splicing events.

122 5 co-regulated a large number of alternative splicing events.

123 tein phosphatase 1 (PP1) with the SR protein splicing factor (SRSF1) to understand the foundation of

124 ons in spliceosome components, including the splicing factor 3b subunit 1 (SF3B1), are associated wit

125 ion with a reovirus strain that targets this splicing factor alters splicing of cell mRNAs involved i

126 Splicing factor mutations tend to occur in the founding

127 an emphasis on the clinical consequences of splicing factor mutations, mechanistic insights from ani

128 Complete loss of function of the ubiquitous splicing factor SFPQ affects zebrafish motoneuron differ

129 ypoxia-induced expression and binding of the splicing factor SRSF3, and increased binding of total an

130 nding motif protein 25 (RBM25) is a putative splicing factor strongly conserved across eukaryotic lin

131 uclear localization and interaction with the splicing factor U2AF65, which promotes mRNA processing a

132 d identify USP39, which encodes an essential splicing factor, as a critical gene for the viability of

133 nRNPA1, an RNA-binding protein and auxiliary splicing factor, as a substrate of TRAF6.

134 led functional analysis of the top candidate splicing factor, Ptbp1, revealed that it is a critical b

135 e proper subnuclear storage of an SR protein splicing factor.

136 pecific cargoes such as serine/arginine-rich splicing factors from the cytoplasm to the nucleus.

137 Recurrent mutations in core splicing factors have been reported in several clonal di

138 The enrichment of numerous splicing factors like hnRNP proteins before ZGA was surp

139 Pre-mRNA splicing factors play a fundamental role in regulating t

140 differentially regulates RNA processing and splicing factors to drive T cell differentiation.

141 s and association with alternative splicing (splicing factors), transcript abundance (AGO2) and mRNA

142 CLIP-seq/RIP-seq datasets involving numerous splicing factors, microRNAs and m6A RNA methylation.

143 gonism between CELF2 and the RBFOX family of splicing factors.

144 eme among MDS-relevant mutations of pre-mRNA splicing factors.

145 methyl transferase SEDT2 affects alternative splicing fates of several key regulatory genes, includin

146 hich are enriched for sequences required for splicing fidelity, have 17% lower SSM density compared

147 Mutations in the RNA splicing gene SF3B1 are found in >80% of patients with m

148 r studies shed new light on the role of mRNA splicing genes in the development of lung cancer.

149 he assembly module parses aligned reads into splicing graphs, and uses network flow algorithms to sel

150 inct GIRK2 isoforms generated by alternative splicing have been identified.

151 anism underlying JMJD6-regulated alternative splicing have remained incompletely understood.

152 ether, these data demonstrate a role for RNA splicing homeostasis in dietary restriction longevity an

153 uncover -cis and -trans regulators of EIF2B5 splicing identified several factors that influence intro

154 teins via its role in governing MVC pre-mRNA splicing.IMPORTANCE The Parvovirinae are small nonenvelo

155 The role of alternative splicing in beta cells remains unclear, but recent data

156 begun to understand the vital importance of splicing in disease, which offers a new platform for mol

157 RNA-seq analysis detected aberrant splicing in DONSON due to one of these noncoding variant

158 gnition in the majority of cases of pre-mRNA splicing in eukaryotes.

159 cs, 5560 minigene molecules were assayed for splicing in human HEK293 cells.

160 here are important examples of regulated RNA splicing in Saccharomyces cerevisiae, such as splicing o

161 A isoforms generated entirely by alternative splicing in the 5'-untranslated region (5'-UTR).

162 Splicing in the 5'-UTR also changes the inclusion of lon

163 Alternate splicing in the exon-8 of vascular endothelial growth fa

164 during tRNA splicing and non-canonical mRNA splicing in the fungal unfolded protein response.

165 MB-231 cells leads to defects in alternative splicing, including inclusion of A-T rich exons in targe

166 ide transcriptional profiles and alternative splicing induced by cocaine.

167 ite mutants nearly completely abolished HAC1 splicing, induction of KAR2, PDI1, and beta-galactosidas

168 3 is further responsive to splicing, wherein splicing inhibition led to a redistribution and general

169 class of drugs, which we refer to as SPLAMs (splicing inhibitor sulfonamides).

170 Alternative splicing involving an N1-Src-specific microexon leads to

171 Alternative gene splicing is a common phenomenon in which a single gene g

172 Spliced leader (SL) trans-splicing is a critical element of gene expression in a n

173 ot known whether the functional role of this splicing is also conserved.

174 Pre-mRNA splicing is an essential step of eukaryotic gene express

175 onidiation, and pathogenesis and alternative splicing is important for its normal functions.

176 Splicing is initiated by a productive interaction betwee

177 ere, we discuss recent findings showing that splicing is misregulated with age.

178 Splicing is perturbed by a variety of mechanisms in canc

179 toplasmic Esrp1 isoforms through alternative splicing is phylogenetically conserved; strongly suggest

180 y can be used to explore in detail how HIV-1 splicing is regulated and, with moderate throughput, cou

181 tissues (LIG3alpha) and a germ line-specific splicing isoform (LIG3beta) that differs in the C-termin

182 al role in determining NDE1 species specific splicing isoforms supporting the notion that alternative

183 Notably, more than 42 280 distinct splicing isoforms were derived from 128 667 intron-conta

184 nuclear Esrp1 to promote epithelial specific splicing, it will be of great interest to study the cont

185 In contrast to the splicing junctions that can be efficiently detected from

186 some of which induce aberrant pre-mRNA AIPL1 splicing leading to the production of alternative AIPL1

187 9 normal breast tissues we demonstrate that splicing levels significantly contribute to the diversit

188 previously described that target the general splicing machinery and thus have low specificity for ind

189 dependence of adenovirus on the host pre-RNA splicing machinery for expression of its complete genome

190 cing decisions through interactions with the splicing machinery.

191 replicate these changes, and indicates that splicing may exploit a distinct role of the first domain

192 rated by a focal deletion-driven alternative splicing mechanism as well as novel VAV1 gene fusions (V

193 extension (CTE) and the associated alternate splicing mechanism, which splices the RCA-alpha and RCA-

194 ally activate SMN2 can be combined with SMN2 splicing modification to ameliorate SMA and demonstrates

195 Small molecule splicing modifiers have been previously described that t

196 an channels (Nav1.1, Nav1.2 and Nav1.7) that splicing modifies the return from inactivated to deactiv

197 al analyses guided the discovery of a broad, splicing-modulated interaction network between MDGA and

198 Several splicing-modulating compounds, including Sudemycins and

199 Consistent with a role in splicing modulation, exonic splice enhancers have a lowe

200 rough a 2'O-methyl phosphorothioate-mediated splicing modulation.

201 Moreover, PHF5A-Y36C alters splicing modulator-induced intron-retention/exon-skippin

202 l splicing but inhibits the global action of splicing modulators.

203 that previously known temperature-sensitive splicing mutants become lethal in the presence of the dr

204 ent a large-scale characterization of exonic splicing mutations using a new technology that facilitat

205 ot reveal any pathogenic coding or canonical splicing mutations within the linkage region but identif

206 eins-SRSF3 and SRSF7, regulators of pre-mRNA splicing, nuclear export and translation-interact with R

207 pression during meiosis, including regulated splicing of a number of crucial meiosis-specific RNAs.

208 Here we report that the splicing of AR variants AR-V7 as well as AR-V1 and AR-V9

209 ral development and suggest that alternative splicing of C-Src in the developing vertebrate nervous s

210 Alternative splicing of CA transcripts appears common; consequently,

211 ain that targets this splicing factor alters splicing of cell mRNAs involved in the maturation of man

212 ay function as a checkpoint to ensure proper splicing of certain pre-mRNAs in fission yeast.

213 Unexpectedly, splicing of Col1a1 (seal) mRNA followed the normal patte

214 Down syndrome brains, regulates alternative splicing of exogenous tau exon 10.

215 Alternative splicing of exon 10 in the tau primary transcript gives

216 It is likely that aberrant splicing of genes expressed in motor neurons is involved

217 me analysis revealed impaired expression and splicing of genes with essential roles in cochlea develo

218 ability of 1C8 to alter the SRSF10-dependent splicing of HIV-1 transcripts, with minor effects on cel

219 suggest a possible survival mechanism by the splicing of IL-32gamma to IL-32beta and also IL-6, IL-8,

220 On the other hand, alternative splicing of Intron-2 generates a longer transcript encod

221 Production of most eukaryotic mRNAs requires splicing of introns from pre-mRNA.

222 motes SR protein binding to U1-70K to induce splicing of lipogenic pre-mRNAs.

223 o a second unique domain, resulting from the splicing of MCMV ORFs m131 and m129 MCK-2 is essential f

224 plicing in Saccharomyces cerevisiae, such as splicing of meiotic transcripts.

225 iogenesis components regulate precursor mRNA splicing of P-transposable element transcripts in vivo,

226 MBSs can also be excluded during splicing of pre-messenger RNA, leading to different regu

227 tion of tau phosphorylation, the alternative splicing of tau exon 10, and cognitive performance.

228 this suppressed the requirement for H2A.Z in splicing of that intron.

229 nterestingly, Rbfox1 silencing modulates the splicing of the actin-remodeling protein gelsolin, incre

230 hat these germline mutations caused aberrant splicing of the endogenous LGI4 transcript and in a cell

231 s of sexual-lineage-specific RdDM causes mis-splicing of the MPS1 gene (also known as PRD2), thereby

232 otein kinase-endoribonuclease Ire1 initiates splicing of the mRNA for the transcription factor Hac1 w

233 Extensive 3' alternative splicing of the mu opioid receptor gene OPRM1 creates mu

234 ent decrease in Snf2 leads to an increase in splicing of the PTC7 transcript.

235 Differential splicing of the VEGF-A gene produces multiple functional

236 Splicing of their progenitor mRNAs joined the amino term

237 RNA splicing of U12-type introns functions in human cell dif

238 d shared defects in PLP1 mRNA expression and splicing, oligodendrocyte progenitor development, and ol

239 ethod for quantifying changes in alternative splicing on a genome-wide scale.

240 A model reproducing the effects of splicing on channel behaviour suggests that the voltage

241 novel therapies targeting the precursor mRNA splicing pathway.

242 ata demonstrate that the NMD and alternative splicing pathways regulate p53beta in a synergistic mann

243 nomic context using CRISPR/Cas9, changed the splicing pattern.

244 or the acquisition of cardiomyocyte-specific splicing patterns in fibroblasts.

245 umerous studies have indicated that aberrant splicing patterns or mutations in spliceosome components

246 cription start sites, termination sites, and splicing patterns using rapid amplification of cDNA ends

247 actors that alter these relatively conserved splicing patterns.

248 forms supporting the notion that alternative splicing plays a central role in human genome evolution,

249 Regulation of gene expression by alternative splicing plays a pivotal role in brain, where it affects

250 influence intron retention in EIF2B5: a weak splicing potential at the RI, hypoxia-induced expression

251 A panel of minigenes of varying splicing potential were integrated into a single FRT sit

252 Regulation of mRNA splicing, processing and stability is increasingly recog

253 f studies has demonstrated that dysregulated splicing profiles constitute pivotal mechanisms for carc

254 e study Esrp genes, which regulate extensive splicing programs and are essential for mammalian organo

255 ith the extensive rewiring of Esrp-dependent splicing programs between phyla, most developmental defe

256 Paradoxically, reduced ER stress or Xbp1 splicing promotes growth arrest and premature senescence

257 h-throughput sequencing data for binding and splicing quantification with sequence features and proba

258 critical role of the AS regulator epithelial splicing regulator protein 1 (ESRP1) for intestinal home

259 ues such as RNA-Seq and CLIP-Seq to identify splicing regulators and their putative targets.

260 These splicing regulators play key roles in insulin release an

261 uman tissues, and we identified a cluster of splicing regulators that are expressed in both beta cell

262 ode recognized by RBM10 and relate it to the splicing regulatory function of this protein.

263 is study, we have identified that K-homology splicing regulatory protein (KSRP), an ARE-BP, is robust

264 RNA sequencing to compare the expression of splicing-regulatory RNA-binding proteins in human islets

265 fects for the Identification of Differential Splicing (REIDS), for the identification of alternative

266 nd defects in RNAPII elongation in vivo on a splicing reporter construct.

267 ng sites within the ISS-N1 are important for splicing repression and their contributions are cumulati

268 in HuR to the -44 region, where it acts as a splicing repressor.

269 generated Nf123aIN/23aIN mice, in which the splicing signals surrounding Nf1 exon 23a were manipulat

270 ad data, and searching spliced sequences for splicing signatures and miRNA events.

271 quence variants (n = 16,384) of the HIV exon splicing silencer 3 (ESS3) 7-nt apical loop.

272 if patterns and association with alternative splicing (splicing factors), transcript abundance (AGO2)

273 Special categories of splicing such as exon circularization, first and last in

274 lly makes it vulnerable to modulators of RNA splicing, such as digoxin and digitoxin.

275 as described chromatin-regulated alternative splicing, suggesting a novel function for drug-induced n

276 transcripts, with minor effects on cellular splicing, supports the view that SRSF10 may be used as a

277 We demonstrate that the RNA trans-splicing technology combined with a SIN lentiviral vecto

278 ultiple isoforms produced though alternative splicing that exhibit tissue-specific expression.

279 ciated with signals of stable elongation and splicing that extend into the gene body, as evidenced by

280 receptor (hH3R) is subject to extensive gene splicing that gives rise to a large number of functional

281 ase (PKM) is associated with cancer-specific splicing that promotes the Warburg effect and breast can

282 irs and the exon skipping during alternative splicing, through interacting with RNA molecules.

283 tinct patterns of temperature sensitivity of splicing to acceptors A1 and A2.

284 tematically explore tissue- and sex-specific splicing to document its conservation throughout the gen

285 ubiquitous tyrosine kinase, C-Src, undergoes splicing to insert short sequences in the SH3 domain to

286 e DNA-binding protein by using protein trans-splicing to ligate synthetic elements to a nuclease-defi

287 wing that functional protein knockout shifts splicing toward the fully spliced isoform, our data are

288 Here by using a combination of RNA splicing, transcription, and protein chemistry technique

289 differential gene expression and alternative splicing transitions, and calcium-handling functions are

290 RHOA/cytoskeleton remodeling (ARHGEF3), RNA splicing (U2AF1), T-cell receptor signaling (PTPRN2, RLT

291 genome or as an mRNA, or this RNA undergoes splicing using four donors and 10 acceptors to create ov

292 Reduction of ER stress or Xbp1 splicing using pharmacological, genetic, and RNAi approa

293 However, a LDAH alternative-splicing variant missing 90 amino acids at C-terminus do

294 classical (binary) and complex, non-binary, splicing variations.

295 H3K36me3 is further responsive to splicing, wherein splicing inhibition led to a redistrib

296 n AhCSD1-2.2 as a consequence of alternative splicing, which bypasses miRNA-mediated down-regulation

297 on mutated, overexpressed genes and aberrant splicing, which can be exploited for personalized cancer

298 regulating RNAPII elongation and alternative splicing, which may support the diverse mRNA repertoire

299 nt a genome-wide measurement of the order of splicing within human transcripts.

300 nsion (SHAPE) chemical probing, we show that splicing yields distinct local 5'-UTR secondary structur