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1 e and function (e.g., intron retention, exon skipping).
2 action with the transcriptional co-regulator SKIP.
3 omain are important for the interaction with SKIP.
4 where the exon is normally almost completely skipped.
5 n the other two genotypes, where the exon is skipped.
6 sease course than those amenable to any exon skipping.
7 ic orientation that are favourable for water-skipping.
8 n to matched HC (n = 13) amenable to exon 51 skipping.
9 toring functional dystrophin protein by exon skipping.
10 annot compensate for SMN1 loss due to exon 7 skipping.
11 und that the majority resulted in total exon skipping.
12 proteins are synthesized by way of ribosomal skipping.
13 g domain, with alternative splicing and exon skipping.
14 y mimic those that would be achieved by exon skipping.
15 nscription rate causes an increase of exon 5 skipping.
16 exons 6 and 9 closer, thereby promoting exon skipping.
17 the transcriptional elongation rate and exon skipping.
18 alysis of clinical trials for exon 44 and 45 skipping.
19 n, and Sudemycins more acute effects on exon skipping.
20 on with these exonic sequences promotes exon skipping.
21 s to changes in stimulus duration) or period skipping.
22 current silent third base change, cause exon skipping.
23 lignancies to estimate the rate of said exon skipping.
24 ficient hDBR1 leads to a higher rate of exon skipping.
25 with different specificities to promote exon skipping.
26 ble precursors giving valuable, enantio-pure skipped 1,4-diene esters (with two configurationally def
29 dical problem (OR, 3.0; 95% CI, 1.6 to 5.9); skipping a test, treatment, or follow-up (OR, 2.1; 95% C
30 > C), previously described to cause exon 10 skipping (a truncating alteration), displays characteris
31 exons is widespread and correlates with exon skipping, a feature that adds considerably to the regula
32 , elastic spheres demonstrate superior water-skipping ability, but little is known about the effect o
33 istic explanation for the variations in exon-skipping activity and restoration of dystrophin protein
34 oligomers (PMOs) with glucose enhances exon-skipping activity in Duchenne muscular dystrophy (DMD) m
36 xpense of the inherent leading strand lesion skipping activity of the replisome, indicating that they
38 ted, c.[594-2A > C; 641A > G] caused exon 10 skipping, albeit not due to c.594-2A > C impairing the a
39 directing group) cascade transformations of skipped alkynes where the reactivity of the key radical
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
47 pre-mRNA is differentially spliced, via exon skipping and alternate 5'-splice donor sites, to yield f
48 ing in minigene assays, and resulted in exon skipping and an in-frame deletion of 40 amino acids in p
51 I editing demonstrate that both the Alu exon skipping and inclusion isoforms encode active enzymes.
52 of novel transcriptomic events such as exon skipping and novel indels towards accurate downstream an
53 eotide conjugate designed to induce Dmd exon skipping and recover dystrophin protein expression cause
54 from variable (V) Igkappa exons promote exon-skipping and synthesis of V domain-less kappa light chai
58 Here we show that an ensemble of BORC, Arl8, SKIP, and kinesin-1, previously shown to mediate centrif
59 correction of many genetic diseases via exon skipping, and the first AON-based drugs have entered cli
62 ryonic dystrophin in zebrafish using an exon-skipping approach severely impairs the mobility and musc
64 utations within the repeat that abolish exon skipping are corrected by compensatory mutations in the
65 The antisense oligonucleotides used for exon skipping are designed to bypass premature stop codons in
66 but alternative donor/acceptor site and exon skipping are mainly induced, indicating differential reg
67 ssing, alternative 5 and 3'ss usage and exon skipping are marked by distinct patterns of ordered intr
69 GCA-positive TAs contained viral antigen in skip areas, mostly in the adventitia and media and least
70 ns of key genes, including invected and even-skipped as markers for different stages of segment forma
73 effectiveness of a recommendation to eat or skip breakfast on weight loss in adults trying to lose w
78 ompared with high-energy breakfast, habitual skipping breakfast was associated with a higher prevalen
79 health effects of specific eating patterns: skipping breakfast, intermittent fasting, meal frequency
80 y energy intake (70% of the population); and skipping breakfast, when consuming <5% of total daily en
81 likely to reach adulthood, recruit late and skip breeding often but have the highest adult survival
83 alpha-chain mRNA splicing and favors exon 9 skipping by reducing the binding of the splicing enhance
84 We have now expanded the potential for exon skipping by testing whether an internal, in-frame trunca
86 expressed by cancer cells with MSI, via exon skipping caused by somatic deletions in the T(17) intron
88 entral striatum in rats encountering wait or skip choices for delayed delivery of different flavors u
89 H-binding GGGGG motif are predisposed to be skipped compared to those carrying the SRSF1-binding GGA
90 subpg/mL sensitivities to be reached and to skip conventional and time-consuming chromatographic sep
91 muscle disease and showed that multiple exon skipping could be induced in RNA that encodes a mutant h
92 but also increased expression of an exon 10-skipped CYP24A1 splice variant; in a minigene model the
93 ar trafficking correspond well with the exon-skipping data, with higher activity in myotubes than in
94 fat, and protein, respectively): a breakfast skipping day (BSD) and a dinner skipping day (DSD) separ
95 a breakfast skipping day (BSD) and a dinner skipping day (DSD) separated by a conventional 3-meal-st
96 , 24-h energy expenditure was higher on both skipping days (BSD: +41 kcal/d; DSD: +91 kcal/d; both P
97 s with deletions amenable to exons 44 and 46 skipping declined at a slower rate over 2 years (9 units
98 e muscular dystrophy, the rationale for exon skipping derived from observations in patients with natu
102 This was utilized to synthesize a series of skipped dienes, a class of compounds that are prevalent
103 tely 80% cis), whereas species-specific exon skipping differences are driven by both cis- and trans-r
104 to be useful synthetic handles, and 3-amino skipped diynes are convenient building blocks for enanti
105 Cu-catalyzed synthesis of nonracemic 3-amino skipped diynes via an enantiodetermining C-C bond format
106 d stereoselectivity inherent to these chiral skipped diynes, the reaction tolerates an extremely broa
107 less likely to complete wP and ddAC without skipped doses, dose modification, or early discontinuati
108 aucoma who reported taking smaller doses and skipping doses owing to cost dropped from 9.4% and 8.2%
110 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
113 expression of the spider orthologues of even-skipped (eve) and runt-1 (run-1), at least in part via c
114 targets for Islet (Isl), Lim3, Hb9, and Even-skipped (Eve) identifies both ion channel genes and gene
115 e, we explore how the Drosophila erecta even-skipped (eve) locus has evolved by testing its activity
116 ds to examine the dynamic regulation of even-skipped (eve) stripe 2 expression in the precellular Dro
117 ed that Hb bifunctionally regulates the even-skipped (eve) stripe 3+7 enhancer (eve3+7) in Drosophila
120 omplex PRC2, and the down-regulation of exon-skipping event may lead to the regain of functional EZH2
122 ing scanner (GESS), for de novo detection of skipping event sites from raw RNA-seq reads without prio
124 plice variants of KV10.1 resulting from exon-skipping events (E65 and E70) in human brain and cancer
125 ew target function for AS prediction in exon skipping events and show it significantly improves model
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 cantly identified protein-coding genes, with skipped exon and alternative first exon being the most f
137 Examination of splice isoforms revealed skipped exon and retained intron to be the most abundant
138 Sequences surrounding cassette exons of skipped exon events are enriched for motifs bound by the
139 DTNA gene produces a novel splice site which skips exon 21 and leads to a shorter alternative transcr
140 essed as an alternative spliced isoform that skips exon 9, resulting in a premature stop codon predic
141 pausing signatures that differ markedly from skipped exons, indicating an intrinsic capacity for Pol
143 for the c.5842+1G>C mutation produce exon 33 skipping, exons 33-34 skipping, and WT VWF transcripts.
144 lly, we also show that PLEKHM1 competes with SKIP for Arl8b binding, which dictates lysosome position
145 of CD46 cassette exon 13, whose inclusion or skipping generates different cytoplasmic tails with dist
147 n for populations to recover than 'hop' and 'skip' (high or medium frequency stopover) migrants.
148 s.We investigated whether the timing of meal skipping impacts these risks by affecting circadian regu
149 iation (that is, more insolation peaks were 'skipped'), implying that the energy threshold for deglac
150 nscripts by both directly increasing exon 13 skipping in an allele-related manner and specifically st
151 were shown to cause intron retention or exon skipping in an allele-specific manner, with approximatel
153 idespread intron retention and cassette exon skipping in leukemic cells regardless of Srsf2 genotype,
154 t these CD33 SNPs are associated with exon 2 skipping in leukocytes from AML patients and with a nove
155 n by antisense oligonucleotide-mediated exon-skipping in mdx mice and (2) stable restoration of alpha
156 equence and is tightly regulated in favor of skipping in neurons; however, its biological function is
158 : the novel PSEN1 variant resulted in exon 9 skipping in patient's RNA, leading to a pathogenic misse
159 to a silencer (ESS), causing frequent exon7 skipping in SMN2 pre-mRNA and yielding a truncated prote
161 binding site could efficiently induce exon 9 skipping in the presence of the G allele, and thereby re
162 mic outbreak in 2011/12 failed to occur (or "skipped") in many countries across the globe, although a
163 hing and differential exon usage (i.e., exon-skipping), in addition to its effects on gene expression
164 involved in the regulation of HMGCR exon 13 skipping, in a founder population and in two distinct mi
166 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,
171 mprove this therapeutic approach to DMD.Exon skipping is a strategy for the treatment of Duchenne mus
175 er included (inclusion isoform) or excluded (skipping isoform), are typically present in one cell, an
177 d that the c.893-1G>A mutation causes exon 7 skipping leading to deletion of 65bp, predicted to resul
178 ndings of extensive aphthous ulceration with skip lesions extending to the terminal ileum, and histol
180 ecific CPP-PMOs demonstrated comparable exon skipping levels for both pre-mRNA targets when compared
182 r meals are difficult to distinguish because skipping meals and snacking have become more prevalent.
184 If adaptation depends on proximity, hop and skip migrants' populations can recover but jump migrants
187 d family with a heterozygous in-frame exon 9 skipping mutation (c.835+2T>G) and in a CVID-affected fa
188 hogenic allele in exon 41, including an exon-skipping mutation that induced an in-frame deletion.
189 er, 12 to 21 per cent of enhancers appear to skip non-expressed neighbours and regulate a more distal
190 ion mechanism, we synthesized conjugated and skipped nonconjugated cholestadienols that would give on
192 However, the Nasonia pair-rule genes even-skipped, odd-skipped, runt and hairy are all expressed a
194 ults in alternative splicing (AS), including skipping of an exon in amyotrophic lateral sclerosis (AL
195 e of PRRC2C, SRSF1 downregulation led to the skipping of an exon overexpressed in primary lung tumors
197 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 KBKAP gene that results in a tissue-specific skipping of exon 20 and a corresponding reduction of the
205 o additional novel transcripts involving the skipping of exon 3 or exons 3, 4, and 5 and are referred
207 conclude that in DMD patients with Delta45, skipping of exon 44 and multiexon skipping of exons 46 a
209 to those of full-length channels (Cav1.4FL), skipping of exon 47 dramatically alters Cav1.4 function.
210 ense oligonucleotide-mediated (ASO-mediated) skipping of exon 6 decreased MDM4 abundance, inhibited m
211 a duplicate gene (SMN2) primarily results in skipping of exon 7 and production of an unstable protein
212 ompensate for this deficiency because of the skipping of exon 7 during pre-messenger RNA (mRNA) proce
216 h Delta45, skipping of exon 44 and multiexon skipping of exons 46 and 47 (or exons 46-48) are better
217 g cDNA showed the splice site variant led to skipping of exons 6 of the FHL1A isoform, equivalent to
218 nne muscular dystrophy, we propose that exon skipping of FcepsilonRIbeta is a potential approach for
220 disrupted the developmentally regulated exon skipping of Ndel1 mRNA, which is bound by MBNL1 and crit
221 scination and engineering application, water-skipping of rigid stones and spheres has received consid
222 calcium levels induce robust and reversible skipping of several alternative exons from endogenously
226 sing antisense oligonucleotide-mediated exon skipping of the beta-subunit of the high-affinity IgE re
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
230 pproach for the controlled transformation of skipped oligoalkynes into polycyclic ribbons of tunable
231 nd regioselectivity of the initial attack in skipped oligoalkynes is controlled by propargyl OR moiet
233 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 ation dynamics, we further observed both the skipping orbits of excited atoms traveling down the syst
239 ced adhesions sequentially without having to skip over gaps in adhesive area, biases protrusion forma
240 nuniform sampling (NUS) obtained by randomly skipping points in the first dimension corresponding to
242 cing modulator-induced intron-retention/exon-skipping profile, which correlates with the differential
245 Previous studies have identified the odd-skipped related 2 (Osr2) transcription factor as a key i
247 shows that the functional importance of each skip residue is associated with rod position and reveals
249 SH3-binding region of paramyosin contains a "skip residue," which is likely to locally unwind the coi
250 olecular characterization of the four myosin skip residues also provides a guide to modeling the effe
252 that the regions surrounding the first three skip residues share high structural similarity despite t
253 nd is characterized by the insertion of four skip residues that introduce discontinuities in the coil
256 he Nasonia pair-rule genes even-skipped, odd-skipped, runt and hairy are all expressed as early blast
257 novel computational method, graph-based exon-skipping scanner (GESS), for de novo detection of skippi
258 site are imprecise as reverse transcriptase skips several nucleotides while traversing a 2-5 linkage
260 tations at splice junctions often cause exon skipping, short deletions, or insertions in the mature m
261 The subset of patients amenable to exon 51 skipping showed a more severe disease course than those
263 polyphosphate-5-phosphatase K, also known as SKIP (skeletal muscle and kidney enriched inositol phosp
264 fish are spawning in an alternate location, skip-spawning, or not spawning until an older age affect
265 identical trains of stimuli, except for one skipped stimulus, and found that EPSC amplitude was affe
268 s and increased fat oxidation with breakfast skipping suggest the development of metabolic inflexibil
271 xhibited consolidated locomotor activity and skipped the timed rest period (siesta) present in wild-t
272 role is to funnel a rough folding landscape, skipping the accumulation of kinetic traps, providing a
273 striking contrast to Pol lambda, Pol micro "skips" the first available template nucleotide, instead
274 three families and was shown to induce exon skipping; the other mutations were frameshift mutations
277 mers (PMOs) has shown great promise for exon-skipping therapy of Duchenne Muscular Dystrophy (DMD).
278 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 also affects splicing by facilitating exon 2 skipping, thus also being in effect a loss-of-function a
287 nistration was initiated, the TAC dosage was skipped until trough levels began to decline; it was the
295 polymerase chain reaction to detect exon 14 skipping were performed where sufficient tissue was avai
296 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 ion of Osr1, a homolog of the Drosophila odd-skipped zinc-finger transcription factor, in the undiffe
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