ライフサイエンスコーパス: skip

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

2 action with the transcriptional co-regulator SKIP.

3 ic tail exons that can either be included or skipped.

4 del of the Drosophila melanogaster gene even-skipped.

5 where the exon is normally almost completely skipped.

6 ange reduced a large gender gap in questions skipped.

7 rand gaps were generated by replisome lesion skipping.

8 annot compensate for SMN1 loss due to exon 7 skipping.

9 n, and Sudemycins more acute effects on exon skipping.

10 on with these exonic sequences promotes exon skipping.

11 s to changes in stimulus duration) or period skipping.

12 current silent third base change, cause exon skipping.

13 lignancies to estimate the rate of said exon skipping.

14 ficient hDBR1 leads to a higher rate of exon skipping.

15 with different specificities to promote exon skipping.

16 sease course than those amenable to any exon skipping.

17 ic orientation that are favourable for water-skipping.

18 lar domains and those that result in exon 14 skipping.

19 and ssDNA gaps generated by replisome lesion skipping.

20 elayed neural tube closure, and altered exon skipping.

21 rnative splicing event, skipped exon or exon skipping.

22 determine whether a response is generated or skipped?

23 ble precursors giving valuable, enantio-pure skipped 1,4-diene esters (with two configurationally def

24 No similar functional prion, skipping a stop codon, has been found in Escherichia col

25 dical problem (OR, 3.0; 95% CI, 1.6 to 5.9); skipping a test, treatment, or follow-up (OR, 2.1; 95% C

26 > C), previously described to cause exon 10 skipping (a truncating alteration), displays characteris

27 ssociation study (GWAS) for breakfast cereal skipping, a commonly assessed correlated trait.

28 tability of platelet RNA expression and exon skipping, a readily measured alternative splicing event.

29 , elastic spheres demonstrate superior water-skipping ability, but little is known about the effect o

30 However, why SKIP activity is silenced in primary AML cells is unclea

31 oligomers (PMOs) with glucose enhances exon-skipping activity in Duchenne muscular dystrophy (DMD) m

32 igher expression of hDBR1 only affected exon-skipping activity in malignant cells.

33 Exon skipping adds to the unexpected outcomes that must be ac

34 directing group) cascade transformations of skipped alkynes where the reactivity of the key radical

35 for two different Etaa1 mutations: an exon 2 skipping allele that deletes Gly78-Leu119, and a Cys166S

36 ntly, a longer fasting period with breakfast skipping also increased the inflammatory potential of pe

37 hanism operates for an adaptor protein named SKIP (also known as PLEKHM2).

38 Several agents targeting exon 14 skipping alterations are currently in clinical developme

39 asts and therefore challenge the notion that SKIP always inhibits SK activity.

40 across years was extremely high, even after skipping an entire seasonal migration.

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

42 ing in minigene assays, and resulted in exon skipping and an in-frame deletion of 40 amino acids in p

43 skipping as a proxy-phenotype for breakfast skipping and applied several in silico approaches to inv

44 periment to evaluate the effect of breakfast skipping and avoidance of ASF for 55 days.

45 nucleotide variant directly affects exon 14 skipping and changes the ratio of transmembrane versus s

46 splicing site mutations facilitating exon 16 skipping and deletions of exon 16 in a subset of these l

47 generates simultaneous expression of exon 6-skipping and G-nucleotide insertion variants.

48 nks between genetically determined breakfast skipping and higher body mass index, more depressive sym

49 I editing demonstrate that both the Alu exon skipping and inclusion isoforms encode active enzymes.

50 8-dependent association between SELP exon 14 skipping and race.

51 developmental stage, with activation of exon skipping and repression of intron retention being the mo

52 platelet splice QTL that alters SELP exon 14 skipping and soluble versus transmembrane P-selectin pro

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

54 lls to characterize splicing variation (exon skipping) and its determinants.

55 Here we show that an ensemble of BORC, Arl8, SKIP, and kinesin-1, previously shown to mediate centrif

56 ms included transcriptional repression, exon skipping, and intron inclusion.

57 tation produce exon 33 skipping, exons 33-34 skipping, and WT VWF transcripts.

58 -term treatment with peptide-conjugated exon skipping antisense oligonucleotides (20-week regimen), r

59 pathology, compared to the single dystrophin skipping approach.

60 ssing, alternative 5 and 3'ss usage and exon skipping are marked by distinct patterns of ordered intr

61 As breakfast timing and skipping are not routinely measured in large cohort stud

62 ns of key genes, including invected and even-skipped as markers for different stages of segment forma

63 These data highlight microexon skipping as a mechanism to spatially restrict signaling

64 genetic variants related to breakfast cereal skipping as a proxy-phenotype for breakfast skipping and

65 factor ETS variant 1 (ETV1) gene showed exon skipping at exon 7, while nudE neurodevelopment protein

66 While in most cases the Alu promotes exon skipping, at one locus the Alu increases exon inclusion.

67 to the lysosomal membrane but also relieves SKIP autoinhibition, promoting kinesin-1-driven, anterog

68 ) in the ZFN dimer, as well as the option to skip bases between the target triplets of otherwise adja

69 SKIP binds preferentially to monophosphorylated phosphoi

70 SKIP binds to the small guanosine triphosphatase (GTPase

71 Wigglesworth's original JH is the JH III skipped bisepoxide (JHSB3), a homolog identified in othe

72 ctly avoid all animal source foods (ASF) and skip breakfast at least up to lunch time.

73 hasing breakfast at a later time (P = 0.01), skipping breakfast (P = 0.03), and not preparing breakfa

74 Skipping breakfast is associated with an increased odds

75 Skipping breakfast is considered a frequent and unhealth

76 ompared with high-energy breakfast, habitual skipping breakfast was associated with a higher prevalen

77 sal link between being an evening person and skipping breakfast, but not vice versa.

78 health effects of specific eating patterns: skipping breakfast, intermittent fasting, meal frequency

79 y energy intake (70% of the population); and skipping breakfast, when consuming <5% of total daily en

80 likely to reach adulthood, recruit late and skip breeding often but have the highest adult survival

81 -dependent partial migration, which includes skipped breeding partial migration for reproductive fema

82 Skipping breeding in female grey seals appears to be an

83 Skipping breeding increased subsequent pupping probabili

84 "Skip" Burris III, MD, FACP, FASCOASCO President, 2019-20

85 ; the exon downstream the stwintron could be skipped by excising a sequence that comprises this stwin

86 o protein encoding molecules, or induce exon skipping by disruption of exon splicing enhancers (ESEs)

87 found that rs10401969 regulates SUGP1 exon 8 skipping, causing non-sense-mediated mRNA decay.

88 The proposed skip connections are built based on the conditional info

89 network as the generator and propose to use skip connections between the encoder and decoder to prov

90 hat information should be passed through the skip connections from the encoder to the decoder.

91 ed on adversarial auto-encoders, and the new skip connections lead to improved performance.

92 nt ways, we develop three different types of skip connections, known as the self-gated connection, en

93 subpg/mL sensitivities to be reached and to skip conventional and time-consuming chromatographic sep

94 but also increased expression of an exon 10-skipped CYP24A1 splice variant; in a minigene model the

95 fat, and protein, respectively): a breakfast skipping day (BSD) and a dinner skipping day (DSD) separ

96 a breakfast skipping day (BSD) and a dinner skipping day (DSD) separated by a conventional 3-meal-st

97 , 24-h energy expenditure was higher on both skipping days (BSD: +41 kcal/d; DSD: +91 kcal/d; both P

98 s with deletions amenable to exons 44 and 46 skipping declined at a slower rate over 2 years (9 units

99 re generated by a Takai olefination, and the skipped diene side chain was introduced with a stereocon

100 d internal alkynes leads to the formation of skipped dienes containing trisubstituted alkenes.

101 Synthesis of skipped dienes through the hydroallylation of terminal a

102 to be useful synthetic handles, and 3-amino skipped diynes are convenient building blocks for enanti

103 Cu-catalyzed synthesis of nonracemic 3-amino skipped diynes via an enantiodetermining C-C bond format

104 d stereoselectivity inherent to these chiral skipped diynes, the reaction tolerates an extremely broa

105 if in the preceding 12 months they reported skipping doses to save money, taking less medication to

106 Here, we investigated the consequences of SKIP down-regulation in AML primary cells and the effect

107 These results indicate that SKIP down-regulation in AML reduces SK activity and cera

108 ircuit of sense-antisense pairs and the exon skipping during alternative splicing, through interactin

109 Mg(2+)-assisted reorientation, causing base-skipping during cDNA synthesis.

110 n normal adult tissues as a result of exon 6 skipping, enhanced exon 6 inclusion leads to expression

111 Exon skipping (ES) is reported to be the most common alternat

112 expression of the spider orthologues of even-skipped (eve) and runt-1 (run-1), at least in part via c

113 e, we explore how the Drosophila erecta even-skipped (eve) locus has evolved by testing its activity

114 PESE is also repressed by Even-skipped (Eve), but, of interest, this repression involve

115 Particularly, exon-skipping event in Enhancer of Zeste Homologue 2 (EZH2) a

116 We present an exon skipping event in HDAC7, which is a candidate gene that

117 omplex PRC2, and the down-regulation of exon-skipping event may lead to the regain of functional EZH2

118 es with one single intron event and one exon skipping event were identified.

119 ent between measured acceleration, number of skipping events and distanced traveled.

120 ew target function for AS prediction in exon skipping events and show it significantly improves model

121 atures due to ES events, and studies of exon skipping events associated with mutations and methylatio

122 Interestingly, 29 exon-skipping events induced by treatment were identified and

123 Several exon skipping events were also highly repeatable, suggesting

124 On the other hand, exon skipping events were rare in coding regions (1%) but enr

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

126 to identify therapeutically targetable exon skipping events.

127 ith Becker MD and mdx mice subjected to exon skipping exhibited inhibited dystrophin degradation, pre

128 cantly identified protein-coding genes, with skipped exon and alternative first exon being the most f

129 Examination of splice isoforms revealed skipped exon and retained intron to be the most abundant

130 the most common alternative splicing event, skipped exon or exon skipping.

131 hPTMs, H3K36me3 and H3K4me1, play a role in skipped exon selection among all the tissues and develop

132 ensive annotations of ES events based on the skipped exon units in cancer and normal tissues are not

133 major types of alternative splicing events: skipped exon, mutually exclusive exons, alternative 5' s

134 essor genes, including whole or partial exon skipping, exonification of intronic sequence, loss or ga

135 lice site strengths, of retained introns and skipped exons in our disease model.

136 ntly associated with alternative splicing of skipped exons.

137 y to distinct KO strategies, for example, by skipping exons and reinitiating translation to potential

138 for the c.5842+1G>C mutation produce exon 33 skipping, exons 33-34 skipping, and WT VWF transcripts.

139 ne-grained temporal patterns and are able to skip flexibly across subevents.

140 lly, we also show that PLEKHM1 competes with SKIP for Arl8b binding, which dictates lysosome position

141 h an exon 5-targeted ASO-induced robust exon skipping for more than a year, improved motor coordinati

142 SKIP gene (SPHKAP) expression is silenced by hypermethyl

143 dynamics of the Drosophila melanogaster even-skipped gene at single-cell and high-temporal resolution

144 Using stripe 2 of the even-skipped gene in Drosophila embryos as a case study, we d

145 of CD46 cassette exon 13, whose inclusion or skipping generates different cytoplasmic tails with dist

146 he transmission was noted, as insanity often skipped generations or affected only a few of many sibli

147 aim of this study was to elucidate breakfast skipping genetic variants through a proxy-phenotype geno

148 Here, we use Skip-Gram word2vec to embed k-mers, obtained from 16S rR

149 n scheme that optimizes a GNN using both the skip graph and the original graph.

150 version of the original network, called the skip graph.

151 idation of our approach in smaller breakfast skipping GWAS from the TwinUK (n = 2,006) and the Cohort

152 n of our signals in an independent breakfast skipping GWAS in another British cohort (P = 0.032), Twi

153 n, animal source food avoidanceand breakfast skipping has a significant desirable health effects on l

154 Meal skipping has become an increasing trend of the modern li

155 Indeed, antisense oligonucleotide-based exon skipping has shown promise for RDEB.

156 n for populations to recover than 'hop' and 'skip' (high or medium frequency stopover) migrants.

157 s.We investigated whether the timing of meal skipping impacts these risks by affecting circadian regu

158 iation (that is, more insolation peaks were 'skipped'), implying that the energy threshold for deglac

159 nces flanking exons that are more frequently skipped in clock mutant beta cells, including transcript

160 r template DNA lesions, the lesion is simply skipped in some cases.

161 ASOs also induced exon skipping in cell lines derived from patients with CLN3 B

162 Given the success of exon skipping in clinical trials to treat genetic diseases su

163 fected AS events, with a preference for exon skipping in genes involved with cell mitosis.

164 idespread intron retention and cassette exon skipping in leukemic cells regardless of Srsf2 genotype,

165 mous substitution that results in exon eight skipping in most mRNA molecules, ultimately leading to a

166 to a silencer (ESS), causing frequent exon7 skipping in SMN2 pre-mRNA and yielding a truncated prote

167 soforms of Cask and Madd, and mimicking exon skipping in these transcripts through antisense oligonuc

168 hing and differential exon usage (i.e., exon-skipping), in addition to its effects on gene expression

169 ls after lunch.Compared with 3 meals/d, meal skipping increased energy expenditure.

170 ntrast with previous results indicating that SKIP inhibits SK function in fibroblasts and therefore c

171 that sphingosine kinase interacting protein (SKIP) inhibits sphingosine kinase (SK) function in fibro

172 deglaciation threshold and in the number of skipped insolation peaks.

173 These findings indicate that SKIP is not just a passive connector of lysosome-bound A

174 isense oligonucleotides (ASOs) mediated exon skipping is a promising therapeutic approach.

175 Exon skipping is a promising therapeutic strategy for Duchenn

176 mprove this therapeutic approach to DMD.Exon skipping is a strategy for the treatment of Duchenne mus

177 Exon skipping is a widespread phenomenon occurring across the

178 s study, by demonstrating that targeted exon skipping is able to rescue ciliary protein composition d

179 Although SMN2 exon skipping is the principal contributor to SMA severity, m

180 cell the BDU neuron expresses only the exon-skipped isoform.

181 ted with a higher abundance of CYP2D6 exon 3 skipping junctions.

182 We show that Even-skipped lateral interneurons (ELs) are sensory processin

183 d that the c.893-1G>A mutation causes exon 7 skipping leading to deletion of 65bp, predicted to resul

184 (E12) as a model system because its in-frame skipping leads to a potentially functional protein.

185 identified 6 genetic variants for breakfast skipping, linking clock regulation with food timing and

186 day, both men and women were more likely to skip main meals and reported lower energy intake from ma

187 workflow was simulated in which radiologists skipped mammograms triaged as cancer free (interpreting

188 provided self-reported behaviors, including skipping meals and preparing meals at home.

189 r meals are difficult to distinguish because skipping meals and snacking have become more prevalent.

190 We also described an exon-skipping mechanism for CARD11 dominant-negative activity

191 that the largely disordered middle region of SKIP mediates self-association and that this self-associ

192 on: couldn't afford a prescribed medication; skipped medication doses to save money; took less medici

193 urrent in lung adenocarcinoma and cause exon skipping (METDelta14).

194 If adaptation depends on proximity, hop and skip migrants' populations can recover but jump migrants

195 hese insights, we explain why softer spheres skip more easily than stiffer ones.

196 spheres are evaluated experimentally as they skip multiple times over a lake surface.

197 To correct DMD by skipping mutant dystrophin exons in postnatal muscle tis

198 aries and explains the aetiology of the even-skipped null mutant phenotype.

199 ults in alternative splicing (AS), including skipping of an exon in amyotrophic lateral sclerosis (AL

200 We show that the Alu insertion promotes skipping of CD58 exon 3 and results in a frameshifted tr

201 difications, but also before them, through a skipping of either some or all of these modifications wi

202 erited a splice-site variant that results in skipping of exon 13, p.Ile459Profs( *)4 (not reported in

203 cancer, alternative splicing of ERBB2 causes skipping of exon 16, leading to the expression of an onc

204 KBKAP gene that results in a tissue-specific skipping of exon 20 and a corresponding reduction of the

205 as IKBKAP); this mutation leads to variable skipping of exon 20 and to a drastic reduction of ELP1 i

206 o additional novel transcripts involving the skipping of exon 3 or exons 3, 4, and 5 and are referred

207 uman NRP1 splice variants resulting from the skipping of exon 4 and 5, respectively, in colorectal ca

208 to those of full-length channels (Cav1.4FL), skipping of exon 47 dramatically alters Cav1.4 function.

209 ense oligonucleotide-mediated (ASO-mediated) skipping of exon 6 decreased MDM4 abundance, inhibited m

210 a duplicate gene (SMN2) primarily results in skipping of exon 7 and production of an unstable protein

211 ls to compensate for the loss of SMN1 due to skipping of exon 7.

212 l fibroblasts showed splice-variant mediated skipping of exon 9 leading to an out-of-frame product an

213 HHt-causing CUL3 mutations, resulting in the skipping of exon 9, lead to a more severe phenotype.

214 g cDNA showed the splice site variant led to skipping of exons 6 of the FHL1A isoform, equivalent to

215 Skipping of exons 7 and 8 is predicted to delete critica

216 e variant, P2RX7L, that is, characterized by skipping of exons 7 and 8.

217 nne muscular dystrophy, we propose that exon skipping of FcepsilonRIbeta is a potential approach for

218 re-mRNA, is necessary and sufficient for the skipping of L1CAM transmembrane domain in ECs, leading t

219 er to detect the EGFP fluorescence only when skipping of mdx-type exon 23 is induced by ASOs.

220 Differential inclusion or skipping of microexons is an increasingly recognized cla

221 scination and engineering application, water-skipping of rigid stones and spheres has received consid

222 One of the most repeatable was exon 14 skipping of SELP.

223 euron 1 (SMN1) gene coupled with predominant skipping of SMN2 exon 7.

224 antisense oligonucleotides (AONs) to promote skipping of specific exons such that the reading frame i

225 sing antisense oligonucleotide-mediated exon skipping of the beta-subunit of the high-affinity IgE re

226 to N-terminally truncated target proteins or skipping of the edited exon leading to protein isoforms

227 in a PTBP1-binding site that disrupts normal skipping of the FLNA poison exon in NPCs and causes a br

228 es an autoinhibitory domain, induces partial skipping of the in-frame exon and nuclear accumulation o

229 Targeted skipping of the mutated exon c.5668 G > T using antisens

230 al-wintering sanderlings, in addition to the skipping of this area during northward but not southward

231 se oligonucleotides to reverse the increased skipping of TRA2beta-PE detected in breast tumors, alter

232 gate the effect of ASF fasting and breakfast skipping on micronutrient intake and determine the minim

233 oidance of animal source foods and breakfast skipping) on lipid profiles, fasting blood sugar and bod

234 talizations and emergency department visits; skipped or delayed medical care; usual source of care; d

235 e single-guide RNAs (sgRNAs) can induce exon skipping or large genomic deletions that delete exons.

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

237 At low temperatures, we observed caustics of skipping orbits extending over hundreds of superlattice

238 ced adhesions sequentially without having to skip over gaps in adhesive area, biases protrusion forma

239 RNAi-mediated knockdown of Of-odd-skipped, paired and sloppy-paired impacted all segments,

240 ime over which each nucleus transcribes even-skipped plays a critical role in stripe formation.

241 omology domain-containing family M member 2 (SKIP/PLEKHM2) accumulated.

242 nuniform sampling (NUS) obtained by randomly skipping points in the first dimension corresponding to

243 hyde that can be appended to the rest of the skipped polyene core by Wittig condensation.

244 on through micro-dystrophin delivery or exon skipping, preclinical models have shown that incomplete

245 n vitro that the GH1 variant leads to exon 3 skipping, predicting a mutant protein known to cause hum

246 we built the winning model of the CAGI5 exon skipping prediction challenge.

247 Drug-induced exon skipping preferentially affects shorter alternatively sp

248 cing modulator-induced intron-retention/exon-skipping profile, which correlates with the differential

249 retrospective pooled analysis, we used the M-SKIP Project, the Italian Melanoma Intergroup, and other

250 These findings show that SKIP re-expression enhances SK activity in leukemia cell

251 Of note, SKIP re-expression in leukemia cells increased ceramide

252 tion in AML primary cells and the effects of SKIP re-expression in leukemic cell lines.

253 premature hydrolysis of PtdIns(4)P impaired SKIP recruitment and phagosome resolution.

254 Previous studies have identified the odd-skipped related 2 (Osr2) transcription factor as a key i

255 sion synthesis came at the expense of lesion-skipping replication restart.

256 SH3-binding region of paramyosin contains a "skip residue," which is likely to locally unwind the coi

257 This "rest-period test" revealed that cells skip responses predictably as the rest period is shorten

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

259 er confirmed that all 3 variants caused exon skipping resulting in frameshifts that lead to premature

260 Structure-function analyses of SKIP reveal that the C-terminal region comprising three

261 site are imprecise as reverse transcriptase skips several nucleotides while traversing a 2-5 linkage

262 tations at splice junctions often cause exon skipping, short deletions, or insertions in the mature m

263 The subset of patients amenable to exon 51 skipping showed a more severe disease course than those

264 To inject skip similarity into a GNN, we construct a modified vers

265 rom second-order interactions, which we call skip similarity.

266 The option of skipping similarity matching is also available so that t

267 polyphosphate-5-phosphatase K, also known as SKIP (skeletal muscle and kidney enriched inositol phosp

268 fish are spawning in an alternate location, skip-spawning, or not spawning until an older age affect

269 bined to predict effects of variants on exon skipping, splice site choice, splicing efficiency, and p

270 rse modes of metastasis in CRC and show that skip spreading of tumor cells within the lymphatic netwo

271 independent activity of five enhancers, even-skipped stripes are sculpted by the same kinetic phenome

272 (ii) Base-level errors can be skipped; structural errors need to be detected and corre

273 s and increased fat oxidation with breakfast skipping suggest the development of metabolic inflexibil

274 f shelterin components, which allows CLRC to skip telomeric repeats to internal regions.

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

276 alternative methods are presented here that skip the lipid extraction step and allow the determinati

277 ing with a new partner would be paid through skipping the subsequent breeding attempt.

278 eveal that Adf-1 initiates the expression of SKIP, the host gene of miR-1010.

279 mice, combined dystrophin and myostatin exon skipping therapy greatly improved DMD pathology, compare

280 deno-associated virus (AAV)-U7-mediated exon-skipping therapy was shown to decrease drastically after

281 implications for the development of DMD exon-skipping therapy.

282 well as the biodistribution of ASOs for exon skipping therapy.

283 ding nonsense variants, induced in-frame E12 skipping through the modification of splice sites or reg

284 also affects splicing by facilitating exon 2 skipping, thus also being in effect a loss-of-function a

285 r hand, we can ignore irrelevant details and skip to events of interest.

286 ershooting their optimal range requires both SKIP to temper synaptic potentials (incoherent feedforwa

287 We also find that ARL8 does not just recruit SKIP to the lysosomal membrane but also relieves SKIP au

288 ense oligonucleotide (ASO) that induces exon skipping to restore the open reading frame.

289 lement, the subjects completed 6 min of rope-skipping to stimulate collagen synthesis.

290 toration of wt dystrophin levels, using exon-skipping, together with increased utrophin levels restor

291 These include ORF assignment of exon skipped transcript, studies of lost protein functional f

292 pe 1 VWD through mRNA degradation of exon 38 skipping transcripts.

293 r S1P concentrations than control cells, and SKIP-transfected leukemia cell lines exhibited increased

294 corresponding to LBD to produce namely exon-skipping variants.

295 The experiment reveals a new mode of skipping, "water walking", which is observed for relativ

296 polymerase chain reaction to detect exon 14 skipping were performed where sufficient tissue was avai

297 were >/=7 years old and amenable to exon 51 skipping were randomized to eteplirsen (30/50mg/kg) or p

298 regulated exons PTBP1 tends to promote their skipping, whereas binding to downstream sites often stim

299 self-association enhances the interaction of SKIP with kinesin-1.

300 determining whether breeding had occurred in skipped years, using long-term capture-recapture observa