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1 (after excluding for peaks that overlap with first exons).
2 f LAT has been mapped to a region within the first exon.
3 iant transcript that includes an alternative first exon.
4 ain a premature termination codon within the first exon.
5 ested at predicting the TSS and the complete first exon.
6 s located 11.5 kb downstream from the PDE1B1 first exon.
7 ds, four of which are in the short alternate first exon.
8 -Cre-mediated excision of SRF's promoter and first exon.
9 1 risk haplotypes to the promoter region and first exon.
10 ri- and dimethylated H3K4 within the Gsalpha first exon.
11 ed in a region that includes 94 bases of the first exon.
12 promoter adjacent to the previously defined first exon.
13 N-stimulated response element located in the first exon.
14 ed a splice variant of MTP with an alternate first exon.
15 specific expression are contained within the first exon.
16 e exons upstream of the previously described first exon.
17 ression and hypermethylation on CpG#5 of its first exon.
18 ed in promoter P1 upstream of the non-coding first exon.
19 CD arise from a distinct novel promoter and first exon.
20 protein by the acquisition of an alternative first exon.
21 rmined by the amino acids encoded within the first exon.
22 ine/threonine kinase activity encoded by its first exon.
23 modeling platforms that supply promoters and first exons.
24 erythroid genes show evidence of alternative first exons.
25 ripts, differing by the alternate use of the first exons.
26 mammalian genes containing multiple variable first exons.
27 rms have separate CpG islands spanning their first exons.
28 same gene by virtue of alternatively spliced first exons.
29 the locations of the experimentally verified first exons.
30 products by using alternative promoters and first exons.
31 MVPs were disproportionately located within first exons.
32 , as well as 3 changes in use of alternative first exons.
33 igate the function of genes with alternative first exons.
34 s lost the use of one of its two alternative first exons.
35 ids) and codified by two exons, although the first exon (1-72 amino acids) is sufficient for this pro
36 OXA is more conserved across taxa, while the first exon 10 in CvAOXB contains novel mutations surroun
37 omDb currently contains 36,407 promoters and first exons (19,170 from human, 15,953 from mouse and 12
38 ifferential splicing of 3 mutually exclusive first exons (1A, 1B, 1C) to the alternative 3' splice si
39 upstream, and region 2 is located within the first exon (1alpha) of the open reading frame of the RAS
42 a variant GATA-1 transcript that includes a first exon (1E(B)), located approximately 3700 bp downst
44 r a GAGA factor in the promoter of alternate first exon 2 approaches conservative experiment-wise sig
46 ases: 92.3% (24/26) of mutations were in the first exon, 46.2% (12/26) were recurrent mutations affec
48 se identical fusion genes containing a large first exon (804 nt) are not expressed at appreciably low
49 rotein targeted to the chloroplast, that its first exon acts as a transit peptide, and that the small
50 st intron sequence located downstream of the first exon and 27 bp from the second exon, whereas the l
51 cription initiation, in that it targeted the first exon and a 696-bp sequence immediately downstream
52 ated as RNF217 in Genbank), which shares the first exon and a CpG island with STL but is transcribed
53 e is regenerated at the junction between the first exon and a small internal exon (mI); this splice s
54 (variable) and J (joining) sequences in its first exon and exists as a single-copy gene that is inva
55 ed two potential STAT-binding regions in the first exon and first intron of BCL6 that fell within reg
56 extending from the GGH promoter through the first exon and into intron 1 and showed that methylation
58 kb alpha1T promoter fragment along with the first exon and intron express the transgene in a manner
60 nstruct with the maize alcohol dehydrogenase first exon and intron had low activity, visible in histo
61 d region between +28 and +228 containing the first exon and intron resulted in high-level expression
63 to a 242-kb segment comprising the promoter, first exon and most of the first intron of the Sorcs1 ge
64 tion of two transcription start-sites in the first exon and multiple (five) poly(A) signals in the te
65 heart tissue, BAH/humbug preferably use the first exon and often the fourth exon of junctin while pr
66 logous recombination was used to replace the first exon and promoter region of the IRBP gene with a p
71 containing the 5'-untranslated region of the first exon and the immediate upstream sequence that conf
73 s inactive, suggesting that sequences in the first exon and/or intron are required for detectable exp
74 xhibit shared features including alternative first exons and differential splice acceptors in exon 2.
75 and V3 transcripts have different noncoding first exons and distinct insertion/deletion patterns in
77 pts of utrophin, Up71 and Up140, with unique first exons and promoters located in intron 62 and intro
79 5' flanking sequence, the 40-bp untranslated first exon, and 29 bp of intron 1 directed cat reporter
80 a rho- deletion genome in which the 5'-UTR, first exon, and first intron of COX1 are fused to the fo
81 ragment encompassing the 5'-flanking region, first exon, and first intron, was localized on human chr
82 exonic sequence is very low, except for the first exon, and no conserved open reading frame is prese
83 ng 2182 bp of the 5'-flanking sequences, the first exon, and the first intron activated expression in
84 5' untranslated regions, the presence of the first exon, and three missing codons at the start of the
85 3' terminal exons, (ii) genes with multiple first exons, and (iii) genes with very large introns, of
87 tandem-repeated sequences, exons other than first exons, and non-annotated single-copy sequences tha
89 quences within this promoter and alternative first exon are highly conserved between mouse and human
92 ings indicate that alternative promoters and first exons are more widespread in the human genome than
95 tion of a transgene with an insertion in the first exon but does not affect induction of a similar tr
98 lved in cell cycle activation encoded by E1A first exon can enhance v-src transformation of primary e
101 showed previously that promoter/alternative first exon choice is coupled to downstream splicing even
103 EGFA148 isoforms, including three from novel first exons consistent with existing transcription start
105 NA splicing occurs such that only one of the first exons (containing only untranslated mRNA) is incor
106 ng with its associated enhancer elements and first exon could be deleted without appreciable loss of
107 rolonged binding of the STAT1 complex to the first exon could impair PML transcription and inhibit th
108 ing the LMP1, LMP1-LMP2B promoter, and LMP2B first exon demonstrates the most dramatic nucleotide seq
109 inyltransferase that contain the alternative first exons differentially arginylate these proteins in
111 al 18 amino acids of SNAP-23 (encoded in the first exon) dramatically inhibited binding of SNAP-23 to
115 l characteristics of protocadherins, a large first exon encodes the extracellular domain of each gene
118 d in dendritic cells (DC-CIITA) has a unique first exon encoding an extended N-terminal region of CII
119 exon (Ex1B) located 10.5 kb upstream of the first exon (Ex1A) for canonical MTP (MTP-A); MTP-C conta
122 ithin this region lies a fourth promoter and first exon (exon 1A) that generates paternal-specific mR
123 n this region is an alternative promoter and first exon (exon 1A), generating transcripts that are no
124 racterized by the presence of an alternative first exon (exon 1b) that is spliced to exon 2 of the kn
125 l half of p14ARF, encoded by the alternative first exon (exon 1beta) contacts MDM2 through multiple d
126 differs from SK3 by utilizing an alternative first exon (exon 1C) in place of exon 1A used by SK3, bu
129 ginally noted is in fact a minor alternative first exon far downstream of the primary first exon elim
130 , encompassing the promoter, some enhancers, first exon, first intron and a small part of the second
131 ering exons, 280-500 bases upstream from the first exon for each gene, and 350 bases of the second in
132 mice with targeted deletion of exon 4A (the first exon for KS-WNK1) exhibited Na(+) retention, eleva
133 ermore, TEs act as alternative promoters and first exons for a subset of host genes, regulating their
134 ly, we present the analysis of the predicted first exons for all of the 24 chromosomes of the human g
136 00 bp downstream to the previously described first exon found in hemopoietic cells (1E(A)) and approx
139 r with short surrounding sequences from both first exons, functions bi-directionally as a core-promot
143 is isoform contains an alternatively spliced first exon (IB) that is distinct from the first exon (IE
145 ed first exon (IB) that is distinct from the first exon (IE) incorporated in the major erythroid mRNA
147 ain insertions of a selectable marker in the first exon in either orientation, and, in the third, the
148 methylation within the RIN1 promoter and the first exon in KPL-1 cells suggested that epigenetic modi
149 art, by increased binding of MDBP/RFX to the first exon in response to methylation in this region.
157 indicate that a cis-element residing at the first exon/intron junction, encompassing an E-box motif,
158 r=-0.24, p=0.07), and DNAm in SST 5' UTR and first exon/intron negatively correlated with SST express
159 n unusual organization in which a non-coding first exon is alternatively spliced at the 5' end of two
161 tients: A nonsense mutation (p.W253X) in the first exon is likely to be a null allele; the second, a
163 NESPAS/XLalphas promoter region and XLalphas first exon is not always concordant even though they are
164 esides in the second exon, and the noncoding first exon is separated from the second exon by a 14-kb
166 An amino acid response element within the first exon is shown to be required for the response to a
167 lation of CpG islands, CpG island shores and first exons is known to play a key role in the altered g
171 ue sequences originated from two alternative first exons, located in tandem and separated by approxim
173 ntially to intergenic diversity; alternative first exons, most of which map far upstream of the codin
174 ed the structural-functional properties of a first exon mutant of BCR lacking the oligomerization dom
175 f a Mutator (Mu) transposable element in the first exon of a gene homologous to the nematode gene, sm
176 n the mutant rat had a 17 bp deletion in the first exon of Adamts16, introducing a stop codon in the
177 his mutant revealed a T-DNA insertion at the first exon of an Arabidopsis thaliana gene encoding for
179 the most 5' exon is transcribed through the first exon of another gene that is transcribed in the op
180 ber tandem repeat (VNTR) polymorphism in the first exon of AS3MT that is associated with the expressi
181 ulation, demonstrate that methylation in the first exon of COL1A2 at a regulatory factor for X box (R
182 ) yields a spliced message that includes the first exon of Fem1c and the beta Geo coding region.
184 There is a nonsense mutation within the first exon of FRO2 in frd1-1 and a missense mutation wit
185 on of the HASNT gene is complementary to the first exon of HAS2, which represents the 5'-untranslated
187 perfect trinucleotide repeats encoded by the first exon of HOXA13 have been reported in hand-foot-gen
188 at a stretch of guanine-rich sequence in the first exon of hTERT and located within the CTCF-binding
191 heterozygous mice in which Gfp replaced the first exon of Il4, a range of patterns of CpG methylatio
194 en a frameshifting mutation in the canonical first exon of NOD2 of marmoset and tamarin species and t
195 e (-291Tdel and -245T-->G), which map to the first exon of NR4A2 and affect one allele in 10 of 107 i
196 rting a floxed transcriptional stop into the first exon of p53, anticipating that this would allow ti
197 s have shown that the region surrounding the first exon of PEG3 contains a differentially methylated
198 ion of the ISRE, which is located within the first exon of PML, is critical to block PML induction by
203 kat-Tat101) but not in Jurkat expressing the first exon of Tat (Jurkat-Tat72), proving that the secon
209 We inserted a lacZ reporter gene into the first exon of the Dlx3 gene by using homologous recombin
211 semi-dominant 7-base-pair duplication in the first exon of the forkhead box I3 gene (FOXI3) shared by
212 different 5' UTRs that form the untranslated first exon of the gene (referred to as rHO-2, rHO-2-1 an
213 e highly methylated in the 5' region and the first exon of the gene that demonstrated features charac
214 of UVC on CHOP expression is located in the first exon of the gene, a 5'-untranslated region that is
216 an expanded CAG trinucleotide repeat in the first exon of the HD gene, which results in a toxic poly
218 inding of CCCTC-binding factor (CTCF) to the first exon of the hTERT gene can down-regulate its expre
221 ingle molecule and nanometer scale using the first exon of the Huntingtin protein as a model system (
222 ing mice in which the eGfp gene replaced the first exon of the Il4 gene (G4 mice), we examined produc
223 s to identify a highly conserved alternative first exon of the LEU2 gene, giving rise to a novel tran
225 fter an alternative splicing event where the first exon of the MAST2 gene spliced into an intronic SV
227 ted, rs10993994, is 57 bp centromeric of the first exon of the MSMB gene, which encodes beta-microsem
229 by a short (GCG)(8-13) expansions within the first exon of the poly(A)-binding protein nuclear 1 gene
230 ontains a deletion spanning the promoter and first exon of the predicted coding region in every non-p
231 methylation patterns in a CpG island in the first exon of the promoter during lung tumour developmen
233 the larger product, which contains both the first exon of the Rev protein and a translated portion o
235 dogene that integrated into the promoter and first exon of the tumour suppressor gene, MGA, abrogated
237 asts, targeting the promoters, enhancers and first exons of genes that normally regulate B cell diffe
238 o clarify this, mRNA representing the unique first exons of INK4a and ARF were analyzed by semiquanti
239 5 DNase I HS sites are found in promoters or first exons of known genes, but nearly half of the most
242 5'-untranslated regions normally make up the first exons of two ubiquitously expressed genes clustere
245 N-SCAN's transcription-start site (TSS) and first exon predictions both computationally and experime
246 ot only identify quadruplex formation in the first exon promoted by CpG dinucleotide methylation as a
247 ut this gene (Solyc06g083450) is missing the first exon, raising the question of whether cultivated t
248 ntly higher at the proximal promoter and the first exon region of all three genes in memory CD8 T cel
250 island, located within the promoter and the first exon regions of RASSF1A, in normal breast tissue c
253 similarity between the entire c- and N- myc first exon sequences, many positions of pol II pausing,
255 lly supported full-length cDNA, promoter and first exon sequences; (2) homology information from Homo
256 TR3 and membrane-bound COMT mRNAs had common first exon sequences; however, transcription start sites
259 TR3 forms that are generated by alternative first exon splicing and that differ in their N-terminal
260 he discovery that MGST1 utilizes alternative first exon splicing eliminates a problem with the first
264 Nearly all proteins affected alternative first exons, suggesting that RBPs play important roles i
265 ation initiation sites among the alternative first exons suggests that many proteins have alternative
267 s effect on the expression and processing of first exons than has been reported for internal exons.
268 ol) contains a 10-nucleotide deletion in its first exon that causes it to code for a truncated protei
269 e splice form (Na(v)1.4bL) possesses a novel first exon that encodes a 51 aa N-terminal extension.
270 nt N-terminal sequence because of a separate first exon that is located 11.5 kb downstream from the P
271 ICCV 96029 revealed an 11-bp deletion in the first exon that was predicted to result in a premature s
272 distinct promoters and form two alternative first exons that are subsequently spliced to the common
273 le transcriptional promoters and alternative first exons that contribute another layer of complexity
275 veloped a BAC mouse model featuring a floxed first exon to permit cell-type-specific excision of huma
277 region immediately upstream of the dominant first exon transcriptionally responds to oxidative stres
280 an the last of the 10 upstream exons and the first exon used from the original cluster of RGS3 exons.
281 by selective deletion of the Romk1-specific first exon using an ES cell Cre-LoxP strategy and examin
282 rnate promoter, and an untranslated upstream first exon was carried out, and no mutations were found
285 located at the 5'-end regions (including the first exons) was used to assess effects of epigenetic tr
286 s to predict CpG-related and non-CpG-related first exons, we showed by cross-validation that the prog
287 cko mice, in which the proximal promoter and first exon were deleted ubiquitously, were back-crossed
288 that intragenic E2F sites down-stream of the first exon were responsible for RB-mediated repression o
290 the classical p21WAF1/CIP1 transcript in the first exon, which is located at approximately 2.8 kb ups
291 ues are encoded by different tissue-specific first exons, which are spliced onto a common site just u
292 well as two of the six validated alternative first exons, which encode distinct protein domains at th
293 is generated from a promoter upstream of the first exon, while the shorter transcript is derived from
294 were enriched in promoters, CpG islands, and first exons, while methylated domains comprised interspe
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