ライフサイエンスコーパス: splice

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

2 e sudemycin compounds that modulate pre-mRNA splicing.

3 oplast RNA processing beyond group II intron splicing.

4 ndent and independent control of alternative splicing.

5 S duplexes to drive spliceosome assembly and splicing.

6 extensive network remodeling by alternative splicing.

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

8 d changes in gene expression and alternative splicing.

9 hy affection status and altered cardiac LMNA splicing.

10 expression, chromatin accessibility, and RNA splicing.

11 isoforms can be derived through alternative splicing.

12 nriched among genes that undergo alternative splicing.

13 fferences between lincRNAs and mRNAs involve splicing.

14 tiation is regulated by alternative pre-mRNA splicing.

15 the kinetics of transcription elongation and splicing.

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

17 ining splice site alleles revealed errors in splicing.

18 ic length and silencer density tend to delay splicing.

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

20 exons and are added to transcripts prior to splicing.

21 introns and exons and regulates alternative splicing.

22 e determination of the p53beta following its splicing.

23 ly spliceosome and regulators of alternative splicing.

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

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

26 The aberrantly spliced adgra2 transcript found in ouchless mutants enco

27 This impaired DI splicing affects proliferation genes, whose downregulati

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

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

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

31 ma-specific expression, STAiRs 15 and 18 are spliced and broadly expressed.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

71 Alternative splicing contributes to gene expression dynamics in many

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

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

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

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

76 embly factor Prp43 suppresses H2A.Z-mediated splice defects, indicating that, in the absence of H2A.Z

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

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

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

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

81 that the white recessive allele is due to a splice donor site mutation in the scavenger receptor B1

82 ch appeared to function redundantly with the splice donor site of intron 36.

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

84 Shorter introns that contain enhancers splice early.

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

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

87 35, U2AF65, U1A, and U1-70K) correlated with splicing efficiencies, suggesting exon definition as the

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

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

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

91 t with a role in splicing modulation, exonic splice enhancers have a lower SSM density before and aft

92 These could serve as intronic splicing enhancers.

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

94 adaptive substitutions and are more prone to splicing errors.

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

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

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

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

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

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

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

102 5 co-regulated a large number of alternative splicing events.

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

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

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

106 Splicing factor mutations tend to occur in the founding

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

122 er studies have shown that the alternatively spliced, flip and flop variants of GluA1 AMPA receptor s

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

139 ide transcriptional profiles and alternative splicing induced by cocaine.

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

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

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

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

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

145 Splicing is initiated by a productive interaction betwee

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

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

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

149 Here, we show that an alternatively spliced isoform of syntaphilin (SNPH), a cytoskeletal re

150 in knockout shifts splicing toward the fully spliced isoform, our data are consistent with a model in

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

152 ontribute to an appreciation of the roles of splice isoforms in genetic disorders and suggest that di

153 antibodies, which recognize tumor-selective splice isoforms of fibronectin (F8-TNF), can be exploite

154 The splice isoforms of vascular endothelial growth A (VEGF)

155 The MYO1C gene produces three alternatively spliced isoforms, differing only in their N-terminal reg

156 , for use in Quantification of Alternatively Spliced Isoforms, outperform other available transcripto

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

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

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

160 Spliced leader (SL) trans-splicing is a critical element

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

162 9 normal breast tissues we demonstrate that splicing levels significantly contribute to the diversit

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

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

165 cing decisions through interactions with the splicing machinery.

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

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

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

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

170 Small molecule splicing modifiers have been previously described that t

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

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

173 Several splicing-modulating compounds, including Sudemycins and

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

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

176 Nevertheless, sequences mapping to spliced mRNAs were identified within HEK293T cell EVs an

177 We identified a novel splice mutation in IKBKG (c.518+2T>G, resulting in an in

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

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

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

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

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

183 Alternative splicing of CA transcripts appears common; consequently,

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

208 re termination codon besides the canonically spliced OsPCS2a transcript.

209 ltivar, the OsPCS2 produces an alternatively spliced OsPCS2b transcript that bears the unusual premat

210 novel therapies targeting the precursor mRNA splicing pathway.

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

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

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

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

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

216 actors that alter these relatively conserved splicing patterns.

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

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

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

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

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

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

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

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

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

226 t-Fly" (RSF), which can detect non-canonical spliced regions with higher sensitivity and improved spe

227 preferentially affects shorter alternatively spliced regions with weaker BPs.

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

229 These splicing regulators play key roles in insulin release an

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

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

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

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

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

235 ing variable-length read data, and searching spliced sequences for splicing signatures and miRNA even

236 issue-specific RNA-seq and other DNA-encoded splice signals.

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

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

239 iceosome complexes revealed mechanisms of 5'-splice site (ss) recognition, branching, and intron rele

240 n-trapping assays with constructs containing splice site alleles revealed errors in splicing.

241 al pattern despite the presence of the donor splice site mutation, likely due to the action of a puta

242 ere compound heterozygous for frameshift and splice site mutations leading to reduced, but not absent

243 ort RNA duplex is established between the 5' splice site of a pre-mRNA and the 5' end of the U1 snRNA

244 Splice site usage has been mapped exhaustively across di

245 We also identified a heterozygous splice site variant in the nuclear envelope gene SYNE1 i

246 ogether to identify the 5 splice site, the 3 splice site, and the branchsite (BS) of nascent pre-mRNA

247 spliceosome work together to identify the 5 splice site, the 3 splice site, and the branchsite (BS)

248 , Reln(CTRdel), carries a chemically induced splice-site mutation that truncates the C-terminal regio

249 Two splice-site mutations were identified, including homozyg

250 mphoblasts from the patient carrying a SYNE1 splice-site variant displayed changes in nuclear morphol

251 s or compound heterozygous) nonsynonymous or splice-site variations in 6 cardiomyopathy-associated ge

252 One 9-bp duplication and one splice-site, five missense, and two nonsense variants in

253 The spliceosome must identify the correct splice sites (SS) and branchsite (BS) used during splici

254 ce of the latter correlation, we mutated the splice sites in an affected intron to consensus and foun

255 onation of alternative promoters, enhancers, splice sites, and termination signals.

256 exonic cores, even after excluding canonical splice sites.

257 ancy and more likely to contain nonconsensus splice sites.

258 The oncogenic role of the spliced somatostatin receptor sst5TMD4 variant in prosta

259 We find evidence of an alternatively spliced spidroin, a spidroin expressed only in venom gla

260 trons at the DNA level from an alternatively spliced stwintron.

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

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

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

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

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

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

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

268 sociated alternate splicing mechanism, which splices the RCA-alpha and RCA-beta isoforms were probabl

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

270 xon 1 of the huntingtin gene does not always splice to exon 2 resulting in the production of a small

271 ndex and large core multimode fiber directly spliced to a single mode fiber.

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

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

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

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

276 RNA that encodes the M1 matrix protein and a spliced transcript that encodes the M2 ion channel.

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

278 pecific differential ratios of alternatively spliced transcripts in indica rice under Cd stress, and

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

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

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

282 transcripts including the androgen-receptor splice variant 7 in a cohort of prostate cancer patients

283 Isradipine inhibition was splice variant and isoform dependent, with a 5- to 11-fo

284 Vertebrates have evolved a neuron-specific splice variant of C-Src, N1-Src, which differs from C-Sr

285 sst5TMD4, a splice variant of the sst5 gene, is overexpressed and as

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

287 y and protein levels of both full-length and splice-variant AR.

288 ctivated states, and the differences between splice variants are occluded by antiepileptic drugs that

289 Furthermore, we identified splice variants encoding distinct nuclear and cytoplasmi

290 Splice variants of the mu opioid receptor (MOR), which m

291 These results highlight the potential of RNA splice variants to serve as novel biomarkers and molecul

292 splasin A (EDA) is produced as 2 full-length splice variants, EDA1 and EDA2, that bind to EDA recepto

293 Here we report that one of the K-Ras splice variants, K-Ras4a, is subject to lysine fatty acy

294 ethod identified 32 potential exonic cryptic splice variants, two of which were experimentally evalua

295 nt systems via expression of different ClC-3 splice variants.

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

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

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

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

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