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2 ene expression level-dependent enrichment of intragenic 5-hmC in mouse cerebellum and an age-dependen
4 key transcriptional regulators display high intragenic 5hmC levels in precursor cells at those devel
5 esults establish that proper coordination of intragenic alternative splicing is essential for normal
7 as diverse PAX5 alterations (rearrangements, intragenic amplifications or mutations); a second subtyp
9 non-canonical translation products from both intragenic and extragenic genomic regions, including pep
13 dentified associations between HU and 10 new intragenic and intergenic noncoding RNAs (ncRNAs), 2 of
15 f methylated CpG islands were shown to be in intragenic and intergenic regions, whereas less than 3%
16 ly distributed between intergenic, upstream, intragenic, and downstream of genes, with novel sites id
18 We further show that transcription from two intragenic antisense promoters strongly decreases the le
19 that Cdk9 inhibition or H2Bub1 loss induces intragenic antisense transcription of ~10% of fission ye
22 frequently observed in the absence of direct intragenic breakpoints, suggesting a requirement for sus
25 d COLDWRAP are required to form a repressive intragenic chromatin loop at the FLC locus by vernalizat
26 also provide evidence for the presence of an intragenic chromatin loop between the two CTCF binding s
27 manner by complex networks of intergenic and intragenic cis-regulatory elements whose numbers and rep
32 nsatory mutations in rpoA or rpoC, and a new intragenic compensatory substitution was identified.
33 ver, glutathione S-transferase pulldowns and intragenic complementation analysis of selected transpos
34 hermore, genetic bypass, protein fusion, and intragenic complementation assays define two distinct ad
35 at both SMN(A111G) and SMN from SMN2 undergo intragenic complementation in vivo to function in hetero
36 vection is the basis for several examples of intragenic complementation involving the enhancers of on
37 ere able, for the first time, to demonstrate intragenic complementation of replication-defective NS5A
39 otype resembling wild-type, but despite this intragenic complementation there are still changes in ho
41 tent, regions of alignment (exon, intron and intragenic), continuity of coverage, 3'/5' bias and coun
42 clinical specimens indicated that related AR intragenic copy number alterations occurred in CRPCa in
48 lly methylated regions (TS-DMRs) observed at intragenic CpG islands and low CG density promoters.
50 ificantly different in promoter CpG islands, intragenic CpG islands, gene bodies, and H3K36me3-enrich
52 y, recent findings report that DNMT3B shapes intragenic CpG-methylation of highly-transcribed genes.
55 associated mechanisms exist to both suppress intragenic cryptic promoters during genic transcription
58 ng the histone H4 interaction motif leads to intragenic cryptic transcripts, indicating that the Set2
59 ne and 5-carboxylcytosine are enriched at an intragenic CTCF-binding sites in the CD45 model gene and
60 These findings suggest that RNAPII pauses at intragenic CTCF-cohesin binding sites and that abrogatio
62 ne clinical diagnostic testing identified an intragenic de novo deletion of TRIO in a boy with ID.
70 e results indicate that gene duplication and intragenic deletion played essential roles in the origin
71 identified de novo mutations, including one intragenic deletion probably disrupting normal splicing
73 mutations, four amino acid substitutions, an intragenic deletion, and a 4.7-Mb multigene deletion inv
74 plication-triplication re-arrangement and an intragenic deletion, predicted to result in altered tran
77 pping and copy number analysis we identified intragenic deletions and mutations in OCLN in nine patie
80 mapping analysis for 62 clinical cases with intragenic deletions in the human DMD gene (50 cases) an
83 thermore, we identified a series of stepwise intragenic deletions that occurred at different times in
86 pre-mRNA "splicing code" to include dynamic intragenic DNA methylation catalyzed by the TET proteins
90 nding sites and our demonstration that these intragenic DNA sequences significantly contribute to bio
93 s of multidomain inhibitors which evolved by intragenic duplication and are released by processing (e
94 to have evolved through sequential rounds of intragenic duplication from a primordial one-domain prec
97 the functional importance of this conserved intragenic element in the regulation of alternative spli
98 inates a three-dimensional stricture between intragenic elements of CFTR bound by several cell-type s
99 sed definition of enhancer elements revealed intragenic enhancer methylation as a mechanism for high-
101 ely with nascent eRNA expression, the act of intragenic enhancer transcription alone, but not eRNAs,
102 ons, we demonstrate a physiological role for intragenic enhancer-mediated transcription attenuation i
104 ependent activity and an ESC-specific distal intragenic enhancer; the latter is rapidly downregulated
109 n deficiency upon glucose deprivation causes intragenic enrichment of acetylated histone H3 at lysine
110 We conclude that high-throughput mapping of intragenic epistasis can identify key structural and fun
113 urther reveal the prevalence and patterns of intragenic epistasis, we present a survey of epistatic i
114 o systematically survey a model landscape of intragenic epistasis, we quantified the fitness of ~60,0
115 explicitly modeling non-dosage dependent and intragenic epistatic effects when predicting expression.
116 he identification and characterization of an intragenic epistatic interaction between the attenuating
120 te thermal stress, HSP genes undergo intense intragenic folding interactions that go well beyond 5'-3
121 he mechanisms still poorly understood of the intragenic function of DNMT3B and DNA methylation in gen
122 supervised fusion transcripts, detection of intragenic fusion variants, homology scores and fusion f
123 ydrolysis and Pi release, and the effects of intragenic G31R suppressors on these reactions, and on t
124 stador') plants engineered to overexpress an intragenic gain-of-function allele of the type I proton
127 cts preferentially associate with changes of intragenic H3K4me3 and at lesser extent of H3K27me3 and
130 e sequencing (WES) data to identify rare and intragenic homozygous and hemizygous (HMZ) deletions tha
131 ylation valleys; however, IMs generally lack intragenic hypomethylation signatures of advanced malign
133 probably disrupting normal splicing and one intragenic insertion that results in a frameshift and pr
134 warfism conferred by Rht-B1c is caused by an intragenic insertion, which results in an in-frame 90-bp
136 iseases with early mortality and demonstrate intragenic localized patterns of variants that suggest p
137 Hydroxymethylation at both promoter and intragenic locations correlated positively with gene exp
139 es to analyze WBC DNA methylation of two ATM intragenic loci (ATMmvp2a and ATMmvp2b) and genome-wide
144 issue of Science, Tan-Wong et al. find that intragenic looping increases the proper orientation of R
148 full-segment 2q23.1 deletions and those with intragenic MBD5 rearrangements, including alterations co
150 s of neuronal gene inheriting high levels of intragenic methylation from the mother and maintaining t
152 methylation is inversely correlated whereas intragenic methylation is directly correlated with gene
153 Consistent with previous work we found that intragenic methylation is positively correlated with gen
156 cancer cell lines, we identified homozygous intragenic microdeletions involving genes encoding compo
163 e show that evolutionarily conserved ('old') intragenic miRNAs tend to be coexpressed with host genes
164 As dominate in human genome, the majority of intragenic miRNAs that show coexpression with host genes
165 ed in this study-deep intronic mutations and intragenic modifiers-might represent more generalizable
169 ccRCC), the most common type, begins with an intragenic mutation in the von Hippel-Lindau (VHL) gene
170 tional cooperating genetic events, including intragenic mutations and copy number alterations, are re
172 proach enables the identification of smaller intragenic mutations including single-nucleotide variant
173 Results Five patients were identified with intragenic mutations predicted to restore BRCA1/2 open r
175 at status, TS expression levels reported, TS intragenic mutations, and TP53 status in outbred and exp
176 ve revealed ~140 genes that, when altered by intragenic mutations, can promote or "drive" tumorigenes
178 ant firing of replication origins to explain intragenic nonrecurrent rearrangements within genes, inc
180 re we identify a single point mutation at an intragenic nucleation site within FLC that prevents this
182 neage-specific pattern of expression and are intragenic or adjacent to TH lineage-specific genes enco
184 plification (MLPA) showed the presence of an intragenic paternally derived duplication involving exon
186 y well-known cases, breakpoints occur at two intragenic positions, leading to in-frame gene-gene fusi
188 ibed by RNA polymerase III (Pol III) from an intragenic promoter at levels similar to that of the cap
189 trols UBI4 by inducing transcription from an intragenic promoter, and the resulting truncated mRNA en
190 richia coli ehxCABD operon contains numerous intragenic promoters in both sense and antisense orienta
193 orms in 22Rv1 CRPCa cells is associated with intragenic rearrangement of an approximately 35-kb AR ge
195 r, these data provide the first report of AR intragenic rearrangements in CRPCa and an association wi
196 ted by flanking low-copy repeats (LCRs), NF1 intragenic rearrangements vary in size, location, and re
197 ix-loop-helix family transcription factor by intragenic recombinants and provided unambiguous evidenc
201 ea mays) NLR protein Rp1-D21 derives from an intragenic recombination between two NLRs, Rp1-D and Rp1
203 quence polymorphisms affect the frequency of intragenic recombination events (gene conversions).
204 However, significant associations between intragenic recombination events and variation in gene ex
208 ere observed, suggesting potential roles for intragenic recombination in plant phenotypic diversity.
210 expected by random chance alone, and neither intragenic recombination nor increased mutability can ex
212 duplicated, the loxPint module serves as an intragenic recombineering point that can be used for the
213 ed with former and non-smokers, including an intragenic region of the aryl hydrocarbon receptor repre
214 CDKN2A/B, EXT2, FTO, HHEX-IDE, IGF2BP2, the intragenic region on 11p12, JAZF1, KCNQ1, LOC387761, MTN
215 is particularly enriched at promoters and in intragenic regions (gene bodies) but is largely absent f
217 eals that KDM5B is predominantly targeted to intragenic regions and that it is recruited to H3K36me3
218 g of 5hmC revealed its specific reduction on intragenic regions from both GDM and preeclampsia compar
221 onic fibroblasts (MEFs) and is restricted to intragenic regions of actively transcribing genes by EHM
223 demonstrate the recognition of promoter and intragenic regions of multiple mmpL genes by these prote
225 locus sequence typing (TLST) scheme based on intragenic regions of two antigenic genes, ace and salA
227 ncRNAs can be transcribed from intergenic or intragenic regions or from introns of protein-coding gen
228 recruitment of the NF-kappaB factor RELA to intragenic regions regulates alternative splicing upon N
229 a samples showed differential methylation of intragenic regions that strongly correlated with express
230 " GASs were re-annotated to the promoters or intragenic regions using Ensembl, UCSC and AceView gene
231 d histone acetylation that were localized to intragenic regions, enriched for Myc DNA binding motifs,
236 ve regulation events (FGFR2 enhancer in BCC, intragenic regulation of FOXP1 in SCC, and WNT5A promote
239 We show significant hypermethylation of one intragenic repetitive element in breast cancer cases com
240 ong-range interaction occurring between this intragenic response element and the transcription start
243 g the elongation phase of protein synthesis, intragenic SD-like sequences stimulate ribosome frameshi
244 ought here to induce the excision of a large intragenic segment within the intact dystrophin gene loc
247 ary, we present an algorithm to detect rare, intragenic, single-exon deletion CNVs using WES data; th
249 es were significantly enriched among 103,466 intragenic sites (P(hypergeometric) = 0.006; P(permutati
250 genes were significantly enriched among all intragenic sites that achieved a p < 0.05 throughout the
251 iting-out of RUNX1 enhancer (eR1) within its intragenic super-enhancer, or BET protein BRD4 depletion
254 tein encoded by the previously characterized intragenic suppressor mutant log1-1, with an arginine in
256 The evidence is based on results from an intragenic suppressor mutation screen and domain swappin
258 defect in MurJ biogenesis; by engineering an intragenic suppressor mutation that restores MurJ biogen
259 sms regulating CheZ activity, we isolated 10 intragenic suppressor mutations of cheZ21IT that restore
260 itution mutations, and spontaneously arising intragenic suppressor mutations on intracellular replica
263 nt substitution, A375V, was identified as an intragenic suppressor of D103V, a negative mutant enzyme
268 sis screen, we were then able to identify 11 intragenic suppressors of hmp-1(fe4) that revert actin b
269 biochemical approaches, we characterized the intragenic suppressors of sensitive to low humidity 1 (s
271 hat inactivate AmtB and here characterize 38 intragenic suppressors upstream of the C terminus ( appr
273 g in CRPCa 22Rv1 cells was linked to a 35-kb intragenic tandem duplication of AR exon 3 and flanking
274 and HPF1 We found that massive expansion of intragenic tandem repeats within the N-terminal domain o
275 In contrast, the PRC2 subunit Eed binds an intragenic Tbx3 enhancer to oppose Dpf2-dependent Tbx3 e
279 mplex FACT mutants, including an increase in intragenic transcription and the accumulation of free hi
281 promotes the cellular fitness by inhibiting intragenic transcription from AT-rich target regions, pr
282 oss of both MvaT and MvaU leads to increased intragenic transcription from loci directly controlled b
285 the ability of H-NS-like proteins to repress intragenic transcription is a universal function of thes
286 nstrated that the short isoforms result from intragenic transcription of ASE1, which depends on the S
288 reases intragenic H3K4me3, increases cryptic intragenic transcription, and inhibits transcriptional e
295 ety of RNAs including numerous antisense and intragenic transcripts, leaderless RNAs, long untranslat
298 ain has (i) fostered accumulation of cryptic intragenic variation and (ii) enabled unmasking of such
299 ce, the pleiotropic mechanisms by which this intragenic variation contributes to lifespan regulation