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1 e and function (e.g., intron retention, exon skipping).
2 n to matched HC (n = 13) amenable to exon 51 skipping.
3 toring functional dystrophin protein by exon skipping.
4 annot compensate for SMN1 loss due to exon 7 skipping.
5 und that the majority resulted in total exon skipping.
6 proteins are synthesized by way of ribosomal skipping.
7 g domain, with alternative splicing and exon skipping.
8 y mimic those that would be achieved by exon skipping.
9 nscription rate causes an increase of exon 5 skipping.
10 exons 6 and 9 closer, thereby promoting exon skipping.
11 the transcriptional elongation rate and exon skipping.
12 alysis of clinical trials for exon 44 and 45 skipping.
13 antisense oligonucleotide (AO)-mediated exon skipping.
14 ingle residue was sufficient to prevent exon skipping.
15 n, and Sudemycins more acute effects on exon skipping.
16 ce-shifting oligonucleotides that induce E29 skipping.
17 ggesting rs11573156 G allele-specific exon 2 skipping.
18 plicing, including intron retention and exon skipping.
19 on with these exonic sequences promotes exon skipping.
20 s to changes in stimulus duration) or period skipping.
21 current silent third base change, cause exon skipping.
22 lignancies to estimate the rate of said exon skipping.
23 ficient hDBR1 leads to a higher rate of exon skipping.
24 with different specificities to promote exon skipping.
25 sease course than those amenable to any exon skipping.
26 ic orientation that are favourable for water-skipping.
30 dical problem (OR, 3.0; 95% CI, 1.6 to 5.9); skipping a test, treatment, or follow-up (OR, 2.1; 95% C
31 > C), previously described to cause exon 10 skipping (a truncating alteration), displays characteris
32 exons is widespread and correlates with exon skipping, a feature that adds considerably to the regula
33 , elastic spheres demonstrate superior water-skipping ability, but little is known about the effect o
34 istic explanation for the variations in exon-skipping activity and restoration of dystrophin protein
35 oligomers (PMOs) with glucose enhances exon-skipping activity in Duchenne muscular dystrophy (DMD) m
37 xpense of the inherent leading strand lesion skipping activity of the replisome, indicating that they
39 ted, c.[594-2A > C; 641A > G] caused exon 10 skipping, albeit not due to c.594-2A > C impairing the a
40 for two different Etaa1 mutations: an exon 2 skipping allele that deletes Gly78-Leu119, and a Cys166S
42 ntly, a longer fasting period with breakfast skipping also increased the inflammatory potential of pe
43 ield lower levels of dystrophin than exon 51 skipping, although the resulting protein is functional e
46 tion for running on computer clusters and by skipping an initial grid search by using parameters from
48 pre-mRNA is differentially spliced, via exon skipping and alternate 5'-splice donor sites, to yield f
49 ing in minigene assays, and resulted in exon skipping and an in-frame deletion of 40 amino acids in p
50 recessive mutation in PIGQ that led to exon skipping and defective glycophosphatidyl inositol biosyn
52 retroviral-derived exons and result in exon skipping and dysregulated alternative splicing of all MT
53 nd the ability of AVI-4658 to induce exon 51 skipping and dystrophin restoration by RT-PCR, immunohis
55 I editing demonstrate that both the Alu exon skipping and inclusion isoforms encode active enzymes.
56 ene knockdown, and change in two types, exon skipping and intron retention, was directly related to d
58 of novel transcriptomic events such as exon skipping and novel indels towards accurate downstream an
59 eotide conjugate designed to induce Dmd exon skipping and recover dystrophin protein expression cause
61 from variable (V) Igkappa exons promote exon-skipping and synthesis of V domain-less kappa light chai
65 correction of many genetic diseases via exon skipping, and the first AON-based drugs have entered cli
67 time the efficiency of the AAV-mediated exon skipping approach in the utrophin/dystrophin double-knoc
68 ryonic dystrophin in zebrafish using an exon-skipping approach severely impairs the mobility and musc
71 utations within the repeat that abolish exon skipping are corrected by compensatory mutations in the
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
78 iation, but not the causal relation, between skipping breakfast and obesity (final cumulative meta-an
79 d BRR in research about the proposition that skipping breakfast causes weight gain, which is called t
83 ard may contribute to the negative impact of skipping breakfast on dietary habits and body weight and
84 ompared with high-energy breakfast, habitual skipping breakfast was associated with a higher prevalen
85 health effects of specific eating patterns: skipping breakfast, intermittent fasting, meal frequency
86 y energy intake (70% of the population); and skipping breakfast, when consuming <5% of total daily en
90 alpha-chain mRNA splicing and favors exon 9 skipping by reducing the binding of the splicing enhance
91 We have now expanded the potential for exon skipping by testing whether an internal, in-frame trunca
94 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%
108 ircuit of sense-antisense pairs and the exon skipping during alternative splicing, through interactin
110 n normal adult tissues as a result of exon 6 skipping, enhanced exon 6 inclusion leads to expression
112 omplex PRC2, and the down-regulation of exon-skipping event may lead to the regain of functional EZH2
114 ing scanner (GESS), for de novo detection of skipping event sites from raw RNA-seq reads without prio
116 plice variants of KV10.1 resulting from exon-skipping events (E65 and E70) in human brain and cancer
117 ew target function for AS prediction in exon skipping events and show it significantly improves model
125 s, but also pinpointed novel, but rare, exon-skipping events, which may reflect aberrantly spliced tr
126 force algorithms to detect all possible exon-skipping events, which were widespread but rare compared
129 ars, with confirmed deletions correctable by skipping exon 51 and ability to walk 200 to 400 m on 6 M
131 culated splice site strength around middle, 'skipping', exons compared to those in the inclusion-isof
132 for the c.5842+1G>C mutation produce exon 33 skipping, exons 33-34 skipping, and WT VWF transcripts.
133 ernally deleted dystrophins produced by exon skipping for different mutations; more insight would be
134 ver, antisense oligonucleotide-mediated exon skipping for DMD still faces major hurdles such as extre
136 of CD46 cassette exon 13, whose inclusion or skipping generates different cytoplasmic tails with dist
137 its strategy of pruning the search space by skipping genetic markers whose upper bounds on test stat
141 s.We investigated whether the timing of meal skipping impacts these risks by affecting circadian regu
142 ificity was observed, with differential exon skipping in 5% of genes otherwise coexpressed in both B
143 nscripts by both directly increasing exon 13 skipping in an allele-related manner and specifically st
144 were shown to cause intron retention or exon skipping in an allele-specific manner, with approximatel
146 se that internal mechanisms underlying cycle skipping in head direction networks may be critical for
147 idespread intron retention and cassette exon skipping in leukemic cells regardless of Srsf2 genotype,
148 t these CD33 SNPs are associated with exon 2 skipping in leukocytes from AML patients and with a nove
149 n by antisense oligonucleotide-mediated exon-skipping in mdx mice and (2) stable restoration of alpha
151 troduced c.205C>T base change induced exon 4 skipping in most mRNAs, leading to premature termination
152 equence and is tightly regulated in favor of skipping in neurons; however, its biological function is
154 : the novel PSEN1 variant resulted in exon 9 skipping in patient's RNA, leading to a pathogenic misse
155 sgenes whose expression is activated by exon skipping in response to a specific protein inducer.
156 r of the exons identified here as subject to skipping in S. pombe reveals high sequence conservation
157 to a silencer (ESS), causing frequent exon7 skipping in SMN2 pre-mRNA and yielding a truncated prote
159 binding site could efficiently induce exon 9 skipping in the presence of the G allele, and thereby re
160 hing and differential exon usage (i.e., exon-skipping), in addition to its effects on gene expression
161 involved in the regulation of HMGCR exon 13 skipping, in a founder population and in two distinct mi
163 e shown to be critical determinants for exon skipping, indicating that LINE1 acts as efficient modifi
164 herapeutic restoration of dystrophin by exon skipping induced widespread shifts in protein and mRNA e
165 can be placed into four major classes: exon skipping, intron retention, alternative 5' splice sites,
168 mprove this therapeutic approach to DMD.Exon skipping is a strategy for the treatment of Duchenne mus
172 under hypoxia revealed that hypoxia-induced skipping is dependent on poor exon definition due to the
175 er included (inclusion isoform) or excluded (skipping isoform), are typically present in one cell, an
176 analysis found that splice sites within the skipping-isoform-dominated group (SIDG) tended to exhibi
177 d that the c.893-1G>A mutation causes exon 7 skipping leading to deletion of 65bp, predicted to resul
178 ecific CPP-PMOs demonstrated comparable exon skipping levels for both pre-mRNA targets when compared
179 neutral polymorphisms, indicating that exon skipping may play a prominent role in aberrant gene regu
180 r meals are difficult to distinguish because skipping meals and snacking have become more prevalent.
184 e stalling, that one replisome is capable of skipping multiple lesions, and that the rate-limiting st
186 d family with a heterozygous in-frame exon 9 skipping mutation (c.835+2T>G) and in a CVID-affected fa
187 hogenic allele in exon 41, including an exon-skipping mutation that induced an in-frame deletion.
189 rticaria and immune dysregulation PLCG2 exon-skipping mutations resulting in protein products with co
192 kably, these dysregulations include complete skipping of agrin's Z exons, critical for NMJ maintenanc
193 ults in alternative splicing (AS), including skipping of an exon in amyotrophic lateral sclerosis (AL
194 e of PRRC2C, SRSF1 downregulation led to the skipping of an exon overexpressed in primary lung tumors
196 ice with morpholino oligomers to induce exon skipping of dystrophin exon 23 (that results in function
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
204 ive exonic splicing enhancer that allows for skipping of exon 2, while retaining the functional RPGR-
205 KBKAP gene that results in a tissue-specific skipping of exon 20 and a corresponding reduction of the
206 o additional novel transcripts involving the skipping of exon 3 or exons 3, 4, and 5 and are referred
208 s splice site mutation (c.555G>A) leading to skipping of exon 4, and a homozygous 4 kb deletion of ex
209 conclude that in DMD patients with Delta45, skipping of exon 44 and multiexon skipping of exons 46 a
211 to those of full-length channels (Cav1.4FL), skipping of exon 47 dramatically alters Cav1.4 function.
212 ense oligonucleotide-mediated (ASO-mediated) skipping of exon 6 decreased MDM4 abundance, inhibited m
214 n the C57BL/6J strain and is associated with skipping of exon 6 or a combination of the exons 5 and 6
215 e f35-42 deletion could be the result of the skipping of exon 6, generating an exon 6-deleted variant
217 a duplicate gene (SMN2) primarily results in skipping of exon 7 and production of an unstable protein
218 ompensate for this deficiency because of the skipping of exon 7 during pre-messenger RNA (mRNA) proce
223 h Delta45, skipping of exon 44 and multiexon skipping of exons 46 and 47 (or exons 46-48) are better
224 g cDNA showed the splice site variant led to skipping of exons 6 of the FHL1A isoform, equivalent to
225 these SR proteins promote both inclusion and skipping of exons in vivo, but their binding patterns do
226 nne muscular dystrophy, we propose that exon skipping of FcepsilonRIbeta is a potential approach for
227 direction signal, but eliminated theta cycle skipping of head direction cells and grid cell spatial p
229 induced by dexamethasone, which leads to the skipping of mutations upstream of nucleotide residue 845
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
232 calcium levels induce robust and reversible skipping of several alternative exons from endogenously
233 P A1-binding sites prevented hypoxia-induced skipping of SMN exon 7 and was found to bind both hnRNP
237 s antisense oligonucleotides, to induce exon skipping of specific mutations or drugs developed to all
239 sing antisense oligonucleotide-mediated exon skipping of the beta-subunit of the high-affinity IgE re
240 in a PTBP1-binding site that disrupts normal skipping of the FLNA poison exon in NPCs and causes a br
241 es an autoinhibitory domain, induces partial skipping of the in-frame exon and nuclear accumulation o
243 deletions with an end-point of exon 51 (the skipping of which could rescue the largest group of Duch
244 ng of Survival Motor Neuron 2 (SMN2) exon 7, skipping of which is linked to spinal muscular atrophy (
247 ross species that are generated through exon skipping or insertion that encodes proteins containing o
248 e single-guide RNAs (sgRNAs) can induce exon skipping or large genomic deletions that delete exons.
249 in nocardicin A biosynthesis, unless module skipping or other nonlinear reactions are occurring.
250 uencing regulatory elements, leading to exon skipping, or by creating a new cryptic splice site.
251 At low temperatures, we observed caustics of skipping orbits extending over hundreds of superlattice
252 ation dynamics, we further observed both the skipping orbits of excited atoms traveling down the syst
253 ers a lesion in the leading-strand template, skipping over the damage by reinitiating replication at
254 nuniform sampling (NUS) obtained by randomly skipping points in the first dimension corresponding to
256 cing modulator-induced intron-retention/exon-skipping profile, which correlates with the differential
259 .345C>T (p.S115S), markedly increased exon 4 skipping, resulting in the overexpression of a minor spl
260 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 s and increased fat oxidation with breakfast skipping suggest the development of metabolic inflexibil
269 role is to funnel a rough folding landscape, skipping the accumulation of kinetic traps, providing a
270 three families and was shown to induce exon skipping; the other mutations were frameshift mutations
273 mers (PMOs) has shown great promise for exon-skipping therapy of Duchenne Muscular Dystrophy (DMD).
274 deno-associated virus (AAV)-U7-mediated exon-skipping therapy was shown to decrease drastically after
276 Although very effective in correcting exon skipping, they also induced retention of the short downs
277 also affects splicing by facilitating exon 2 skipping, thus also being in effect a loss-of-function a
278 plasmid DNA with the bioreducible polymers, skipping time-consuming steps such as generation and cha
279 ead-through of translation stop codons, exon skipping to restore the reading frame and increased expr
287 ystrophin production can be achieved by exon skipping using antisense oligonucleotides targeted to sp
291 3846662, an HMGCR SNP that regulates exon 13 skipping, was predicted to alter an HNRNPA1 binding moti
294 polymerase chain reaction to detect exon 14 skipping were performed where sufficient tissue was avai
295 were >/=7 years old and amenable to exon 51 skipping were randomized to eteplirsen (30/50mg/kg) or p
297 regulated exons PTBP1 tends to promote their skipping, whereas binding to downstream sites often stim
298 d reading frame upstream of the IRES by exon skipping, which led to synthesis of a functional N-trunc
300 iring on alternate theta cycles (theta cycle skipping) with fixed synchronous or anti-synchronous rel
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