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1 e and function (e.g., intron retention, exon skipping).
2 annot compensate for SMN1 loss due to exon 7 skipping.
3 n, and Sudemycins more acute effects on exon skipping.
4 on with these exonic sequences promotes exon skipping.
5 s to changes in stimulus duration) or period skipping.
6 current silent third base change, cause exon skipping.
7 lignancies to estimate the rate of said exon skipping.
8 ficient hDBR1 leads to a higher rate of exon skipping.
9 with different specificities to promote exon skipping.
10 sease course than those amenable to any exon skipping.
11 ic orientation that are favourable for water-skipping.
12 n to matched HC (n = 13) amenable to exon 51 skipping.
13 toring functional dystrophin protein by exon skipping.
14 und that the majority resulted in total exon skipping.
15 proteins are synthesized by way of ribosomal skipping.
16 g domain, with alternative splicing and exon skipping.
17 y mimic those that would be achieved by exon skipping.
18 lar domains and those that result in exon 14 skipping.
19 nscription rate causes an increase of exon 5 skipping.
20 and ssDNA gaps generated by replisome lesion skipping.
21 elayed neural tube closure, and altered exon skipping.
22 rnative splicing event, skipped exon or exon skipping.
23 rand gaps were generated by replisome lesion skipping.
26 dical problem (OR, 3.0; 95% CI, 1.6 to 5.9); skipping a test, treatment, or follow-up (OR, 2.1; 95% C
27 > C), previously described to cause exon 10 skipping (a truncating alteration), displays characteris
29 exons is widespread and correlates with exon skipping, a feature that adds considerably to the regula
30 tability of platelet RNA expression and exon skipping, a readily measured alternative splicing event.
31 , elastic spheres demonstrate superior water-skipping ability, but little is known about the effect o
32 istic explanation for the variations in exon-skipping activity and restoration of dystrophin protein
33 oligomers (PMOs) with glucose enhances exon-skipping activity in Duchenne muscular dystrophy (DMD) m
35 xpense of the inherent leading strand lesion skipping activity of the replisome, indicating that they
37 ted, c.[594-2A > C; 641A > G] caused exon 10 skipping, albeit not due to c.594-2A > C impairing the a
38 for two different Etaa1 mutations: an exon 2 skipping allele that deletes Gly78-Leu119, and a Cys166S
40 ntly, a longer fasting period with breakfast skipping also increased the inflammatory potential of pe
44 pre-mRNA is differentially spliced, via exon skipping and alternate 5'-splice donor sites, to yield f
45 ing in minigene assays, and resulted in exon skipping and an in-frame deletion of 40 amino acids in p
46 skipping as a proxy-phenotype for breakfast skipping and applied several in silico approaches to inv
48 nucleotide variant directly affects exon 14 skipping and changes the ratio of transmembrane versus s
50 splicing site mutations facilitating exon 16 skipping and deletions of exon 16 in a subset of these l
53 nks between genetically determined breakfast skipping and higher body mass index, more depressive sym
54 I editing demonstrate that both the Alu exon skipping and inclusion isoforms encode active enzymes.
55 of novel transcriptomic events such as exon skipping and novel indels towards accurate downstream an
57 eotide conjugate designed to induce Dmd exon skipping and recover dystrophin protein expression cause
58 developmental stage, with activation of exon skipping and repression of intron retention being the mo
59 platelet splice QTL that alters SELP exon 14 skipping and soluble versus transmembrane P-selectin pro
60 from variable (V) Igkappa exons promote exon-skipping and synthesis of V domain-less kappa light chai
66 correction of many genetic diseases via exon skipping, and the first AON-based drugs have entered cli
68 -term treatment with peptide-conjugated exon skipping antisense oligonucleotides (20-week regimen), r
69 ryonic dystrophin in zebrafish using an exon-skipping approach severely impairs the mobility and musc
72 The antisense oligonucleotides used for exon skipping are designed to bypass premature stop codons in
73 but alternative donor/acceptor site and exon skipping are mainly induced, indicating differential reg
74 ssing, alternative 5 and 3'ss usage and exon skipping are marked by distinct patterns of ordered intr
77 genetic variants related to breakfast cereal skipping as a proxy-phenotype for breakfast skipping and
78 factor ETS variant 1 (ETV1) gene showed exon skipping at exon 7, while nudE neurodevelopment protein
79 While in most cases the Alu promotes exon skipping, at one locus the Alu increases exon inclusion.
81 hasing breakfast at a later time (P = 0.01), skipping breakfast (P = 0.03), and not preparing breakfa
85 ompared with high-energy breakfast, habitual skipping breakfast was associated with a higher prevalen
87 health effects of specific eating patterns: skipping breakfast, intermittent fasting, meal frequency
88 y energy intake (70% of the population); and skipping breakfast, when consuming <5% of total daily en
92 o protein encoding molecules, or induce exon skipping by disruption of exon splicing enhancers (ESEs)
93 alpha-chain mRNA splicing and favors exon 9 skipping by reducing the binding of the splicing enhance
94 We have now expanded the potential for exon skipping by testing whether an internal, in-frame trunca
96 expressed by cancer cells with MSI, via exon skipping caused by somatic deletions in the T(17) intron
98 muscle disease and showed that multiple exon skipping could be induced in RNA that encodes a mutant h
99 ar trafficking correspond well with the exon-skipping data, with higher activity in myotubes than in
100 fat, and protein, respectively): a breakfast skipping day (BSD) and a dinner skipping day (DSD) separ
101 a breakfast skipping day (BSD) and a dinner skipping day (DSD) separated by a conventional 3-meal-st
102 , 24-h energy expenditure was higher on both skipping days (BSD: +41 kcal/d; DSD: +91 kcal/d; both P
103 s with deletions amenable to exons 44 and 46 skipping declined at a slower rate over 2 years (9 units
104 e muscular dystrophy, the rationale for exon skipping derived from observations in patients with natu
105 tely 80% cis), whereas species-specific exon skipping differences are driven by both cis- and trans-r
106 aucoma who reported taking smaller doses and skipping doses owing to cost dropped from 9.4% and 8.2%
107 if in the preceding 12 months they reported skipping doses to save money, taking less medication to
109 ircuit of sense-antisense pairs and the exon skipping during alternative splicing, through interactin
112 n normal adult tissues as a result of exon 6 skipping, enhanced exon 6 inclusion leads to expression
116 omplex PRC2, and the down-regulation of exon-skipping event may lead to the regain of functional EZH2
118 ing scanner (GESS), for de novo detection of skipping event sites from raw RNA-seq reads without prio
121 plice variants of KV10.1 resulting from exon-skipping events (E65 and E70) in human brain and cancer
123 ew target function for AS prediction in exon skipping events and show it significantly improves model
124 atures due to ES events, and studies of exon skipping events associated with mutations and methylatio
131 s, but also pinpointed novel, but rare, exon-skipping events, which may reflect aberrantly spliced tr
132 force algorithms to detect all possible exon-skipping events, which were widespread but rare compared
136 ith Becker MD and mdx mice subjected to exon skipping exhibited inhibited dystrophin degradation, pre
137 essor genes, including whole or partial exon skipping, exonification of intronic sequence, loss or ga
138 y to distinct KO strategies, for example, by skipping exons and reinitiating translation to potential
139 for the c.5842+1G>C mutation produce exon 33 skipping, exons 33-34 skipping, and WT VWF transcripts.
140 h an exon 5-targeted ASO-induced robust exon skipping for more than a year, improved motor coordinati
141 of CD46 cassette exon 13, whose inclusion or skipping generates different cytoplasmic tails with dist
142 aim of this study was to elucidate breakfast skipping genetic variants through a proxy-phenotype geno
143 idation of our approach in smaller breakfast skipping GWAS from the TwinUK (n = 2,006) and the Cohort
144 n of our signals in an independent breakfast skipping GWAS in another British cohort (P = 0.032), Twi
145 n, animal source food avoidanceand breakfast skipping has a significant desirable health effects on l
148 s.We investigated whether the timing of meal skipping impacts these risks by affecting circadian regu
149 nscripts by both directly increasing exon 13 skipping in an allele-related manner and specifically st
150 were shown to cause intron retention or exon skipping in an allele-specific manner, with approximatel
154 idespread intron retention and cassette exon skipping in leukemic cells regardless of Srsf2 genotype,
155 t these CD33 SNPs are associated with exon 2 skipping in leukocytes from AML patients and with a nove
156 n by antisense oligonucleotide-mediated exon-skipping in mdx mice and (2) stable restoration of alpha
157 mous substitution that results in exon eight skipping in most mRNA molecules, ultimately leading to a
158 equence and is tightly regulated in favor of skipping in neurons; however, its biological function is
160 : the novel PSEN1 variant resulted in exon 9 skipping in patient's RNA, leading to a pathogenic misse
161 to a silencer (ESS), causing frequent exon7 skipping in SMN2 pre-mRNA and yielding a truncated prote
163 binding site could efficiently induce exon 9 skipping in the presence of the G allele, and thereby re
164 soforms of Cask and Madd, and mimicking exon skipping in these transcripts through antisense oligonuc
165 hing and differential exon usage (i.e., exon-skipping), in addition to its effects on gene expression
166 involved in the regulation of HMGCR exon 13 skipping, in a founder population and in two distinct mi
168 herapeutic restoration of dystrophin by exon skipping induced widespread shifts in protein and mRNA e
169 can be placed into four major classes: exon skipping, intron retention, alternative 5' splice sites,
172 mprove this therapeutic approach to DMD.Exon skipping is a strategy for the treatment of Duchenne mus
174 s study, by demonstrating that targeted exon skipping is able to rescue ciliary protein composition d
178 er included (inclusion isoform) or excluded (skipping isoform), are typically present in one cell, an
180 d that the c.893-1G>A mutation causes exon 7 skipping leading to deletion of 65bp, predicted to resul
181 (E12) as a model system because its in-frame skipping leads to a potentially functional protein.
182 ecific CPP-PMOs demonstrated comparable exon skipping levels for both pre-mRNA targets when compared
183 identified 6 genetic variants for breakfast skipping, linking clock regulation with food timing and
185 r meals are difficult to distinguish because skipping meals and snacking have become more prevalent.
189 d family with a heterozygous in-frame exon 9 skipping mutation (c.835+2T>G) and in a CVID-affected fa
190 hogenic allele in exon 41, including an exon-skipping mutation that induced an in-frame deletion.
192 ults in alternative splicing (AS), including skipping of an exon in amyotrophic lateral sclerosis (AL
193 e of PRRC2C, SRSF1 downregulation led to the skipping of an exon overexpressed in primary lung tumors
195 We show that the Alu insertion promotes skipping of CD58 exon 3 and results in a frameshifted tr
196 ice with morpholino oligomers to induce exon skipping of dystrophin exon 23 (that results in function
198 difications, but also before them, through a skipping of either some or all of these modifications wi
201 the frameshift p.Lys645AlafsTer12 and/or the skipping of exon 11 that results in deletion of 30 highl
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
205 KBKAP gene that results in a tissue-specific skipping of exon 20 and a corresponding reduction of the
206 as IKBKAP); this mutation leads to variable skipping of exon 20 and to a drastic reduction of ELP1 i
207 o additional novel transcripts involving the skipping of exon 3 or exons 3, 4, and 5 and are referred
209 uman NRP1 splice variants resulting from the skipping of exon 4 and 5, respectively, in colorectal ca
210 conclude that in DMD patients with Delta45, skipping of exon 44 and multiexon skipping of exons 46 a
212 to those of full-length channels (Cav1.4FL), skipping of exon 47 dramatically alters Cav1.4 function.
213 ense oligonucleotide-mediated (ASO-mediated) skipping of exon 6 decreased MDM4 abundance, inhibited m
214 a duplicate gene (SMN2) primarily results in skipping of exon 7 and production of an unstable protein
215 ompensate for this deficiency because of the skipping of exon 7 during pre-messenger RNA (mRNA) proce
219 l fibroblasts showed splice-variant mediated skipping of exon 9 leading to an out-of-frame product an
220 HHt-causing CUL3 mutations, resulting in the skipping of exon 9, lead to a more severe phenotype.
221 h Delta45, skipping of exon 44 and multiexon skipping of exons 46 and 47 (or exons 46-48) are better
222 g cDNA showed the splice site variant led to skipping of exons 6 of the FHL1A isoform, equivalent to
225 nne muscular dystrophy, we propose that exon skipping of FcepsilonRIbeta is a potential approach for
226 re-mRNA, is necessary and sufficient for the skipping of L1CAM transmembrane domain in ECs, leading t
230 disrupted the developmentally regulated exon skipping of Ndel1 mRNA, which is bound by MBNL1 and crit
231 scination and engineering application, water-skipping of rigid stones and spheres has received consid
233 calcium levels induce robust and reversible skipping of several alternative exons from endogenously
235 antisense oligonucleotides (AONs) to promote skipping of specific exons such that the reading frame i
236 sing antisense oligonucleotide-mediated exon skipping of the beta-subunit of the high-affinity IgE re
237 to N-terminally truncated target proteins or skipping of the edited exon leading to protein isoforms
238 in a PTBP1-binding site that disrupts normal skipping of the FLNA poison exon in NPCs and causes a br
239 es an autoinhibitory domain, induces partial skipping of the in-frame exon and nuclear accumulation o
241 al-wintering sanderlings, in addition to the skipping of this area during northward but not southward
242 se oligonucleotides to reverse the increased skipping of TRA2beta-PE detected in breast tumors, alter
245 gate the effect of ASF fasting and breakfast skipping on micronutrient intake and determine the minim
246 oidance of animal source foods and breakfast skipping) on lipid profiles, fasting blood sugar and bod
248 e single-guide RNAs (sgRNAs) can induce exon skipping or large genomic deletions that delete exons.
249 uencing regulatory elements, leading to exon skipping, or by creating a new cryptic splice site.
250 At low temperatures, we observed caustics of skipping orbits extending over hundreds of superlattice
251 ation dynamics, we further observed both the skipping orbits of excited atoms traveling down the syst
252 nuniform sampling (NUS) obtained by randomly skipping points in the first dimension corresponding to
253 on through micro-dystrophin delivery or exon skipping, preclinical models have shown that incomplete
254 n vitro that the GH1 variant leads to exon 3 skipping, predicting a mutant protein known to cause hum
257 cing modulator-induced intron-retention/exon-skipping profile, which correlates with the differential
260 er confirmed that all 3 variants caused exon skipping resulting in frameshifts that lead to premature
261 novel computational method, graph-based exon-skipping scanner (GESS), for de novo detection of skippi
263 tations at splice junctions often cause exon skipping, short deletions, or insertions in the mature m
264 The subset of patients amenable to exon 51 skipping showed a more severe disease course than those
267 bined to predict effects of variants on exon skipping, splice site choice, splicing efficiency, and p
268 s and increased fat oxidation with breakfast skipping suggest the development of metabolic inflexibil
270 role is to funnel a rough folding landscape, skipping the accumulation of kinetic traps, providing a
272 three families and was shown to induce exon skipping; the other mutations were frameshift mutations
275 mice, combined dystrophin and myostatin exon skipping therapy greatly improved DMD pathology, compare
276 mers (PMOs) has shown great promise for exon-skipping therapy of Duchenne Muscular Dystrophy (DMD).
277 deno-associated virus (AAV)-U7-mediated exon-skipping therapy was shown to decrease drastically after
280 Although very effective in correcting exon skipping, they also induced retention of the short downs
281 ding nonsense variants, induced in-frame E12 skipping through the modification of splice sites or reg
282 also affects splicing by facilitating exon 2 skipping, thus also being in effect a loss-of-function a
285 toration of wt dystrophin levels, using exon-skipping, together with increased utrophin levels restor
297 polymerase chain reaction to detect exon 14 skipping were performed where sufficient tissue was avai
298 were >/=7 years old and amenable to exon 51 skipping were randomized to eteplirsen (30/50mg/kg) or p
299 regulated exons PTBP1 tends to promote their skipping, whereas binding to downstream sites often stim
300 d reading frame upstream of the IRES by exon skipping, which led to synthesis of a functional N-trunc