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1 ither cryptic promoter activity or a cryptic splice acceptor site.
2 p3 gene in NZB mice, which generates a novel splice acceptor site.
3 sequences of a polyadenylation signal and a splice acceptor site.
4 the 81 bases form a consensus sequence for a splice acceptor site.
5 production and mutating the COOLAIR proximal splice acceptor site.
6 nd localized the 3' end in the vicinity of a splice acceptor site.
7 of the six changes is likely to create a new splice acceptor site.
8 as an A(-2)--> G substitution at the exon 14 splice acceptor site.
9 luding a previously unreported mutation in a splice acceptor site.
10 plorhines, with its evolutionary origin as a splice acceptor site.
11 branch points was used as the predominant 3' splice acceptor site.
12 splicing of different 5' exons onto a common splice acceptor site.
13 mozygous A-->G transition 2 bp upstream of a splice acceptor site.
14 a G34S substitution, it also generates a 3' splice acceptor site.
15 28 separate individuals, only two affect the splice-acceptor site.
16 region 80 to 120 bases away from the ends of splice acceptor sites.
17 A) site, the major splice donor site and the splice acceptor sites.
19 nucleotide polymorphism in the XPC intron 11 splice acceptor site (58% C in 97 normals) decreased its
20 onsequence of three defects; a suboptimal 3' splice acceptor site, a suboptimal 5' splice donor site
21 s deletion results in the loss of the exon 2 splice acceptor site, absence of exon 2 from the CP49 mR
24 cript resulted from utilization of a cryptic splice acceptor site and returned the open reading frame
25 ergenic region promoter together with its 3' splice acceptor sites and the 5' untranslated region (UT
26 diac myosin binding protein-C (1 nonsense, 1 splice acceptor site, and 3 missense), cardiac troponin
27 A conserved AG dinucleotide serves as the 3' splice acceptor site, and analysis of native processing
28 IFITM3 allele (SNP rs12252-C) that alters a splice acceptor site, and functional assays show the min
29 had acquired mutations at or adjacent to the splice acceptor site, and three others had acquired dual
30 enes; (2) the 29 nucleotides surrounding the splice acceptor site are absolutely conserved in all eig
31 inhibit the 5' LTR poly(A) site, whereas the splice acceptor sites are inefficient, allowing full-len
32 sent in a 52 bp exon with a non-canonical 3' splice acceptor site at its 5' end and an internal 3' sp
33 plice donor site at nucleotide (nt) 226, the splice acceptor site at nt 409, or a TATAA box at nt 789
35 site AUG1 and is located between alternative splice acceptor sites at the 5' end of exon 2; its inclu
38 he 430T allele enhances the use of a cryptic splice acceptor site, causing the introduction of a prem
41 l amino acids, and the mutation of a cryptic splice acceptor site did not detectably alter Cre recomb
42 mmediately 3' to the predicted FMO6 intron 8 splice acceptor site, diminishing the efficiency of this
43 tions in the splice donor site (E6SD) or the splice acceptor site (E6SA), a deletion of the intron (E
44 terozygous mutation (G>T) in intron 3 at the splice acceptor site for exon 4, leading to a frameshift
45 (low) has a nucleotide substitution near the splice acceptor site for intron 2 that impairs the produ
50 to splicing that are subsequent to terminal splice acceptor site function, but before catalysis, hav
52 sition found in four patients which alters a splice acceptor site in exon 12 and leads to a three ami
53 codon as well as a new downstream cryptic 3' splice acceptor site in exon 13, responsible for the 67
55 on alpha) within intron 5 and an alternative splice acceptor site in exon 6, splitting exon 6 into tw
58 ays, we have shown that a mutation at the 3' splice acceptor site in the Arabidopsis chalcone synthas
60 ion genes in trypanosomatids, we have mapped splice acceptor sites in the 5' flanking region of the T
61 rms are generated by the use of two distinct splice acceptor sites in the third exon situated 278 bas
62 ) was heterozygous for an A-->G shift at the splice-acceptor site in intron 3, and in the second alle
65 creation of a novel intra-exonic pre-mRNA 3' splice acceptor site leading to in-frame loss of 27 nucl
66 table line, the elimination of the native 3' splice acceptor site led to the accumulation of Y-branch
69 which a point mutation creates a cryptic 3' splice acceptor site motif that is used preferentially o
70 Whole-exome capture revealed a homozygous splice acceptor site mutation (c.698G>T) in the renal Mg
71 rt, we describe a new mouse model carrying a splice acceptor site mutation in Rpgrip1, herein referre
72 for 54% of those observed in our cohort, the splice acceptor site mutation IVS8 -1G-->C (22/64 allele
75 ual system and we have characterized a novel splice-acceptor site mutation in patched2 that results i
78 sm caused by an A--> G point mutation in the splice acceptor site of intron 1 of the beta2m gene, del
79 , we have found a G-->A transition in the 3" splice acceptor site of intron 2 of the DSG1 gene which
80 trievers (GRMD), a point mutation within the splice acceptor site of intron 6 leads to deletion of ex
82 l intronic mutation, g.31701T>A, in the last splice acceptor site of the adenosine deaminase (ADA) ge
83 ment (located 80 nucleotides upstream of the splice acceptor site of the downstream exon E10) is comp
86 is splice donor site in conjunction with the splice acceptor site present between intron 8 and exon 9
89 ssential for retrovirus viability, such as a splicing acceptor site, TATA box and polyA addition sign
92 d in the antisense orientation, they provide splice acceptor sites that can result in incorporation o
93 art from the P-element insertions containing splice acceptor sites that create alternative processing
96 change located at position -3 of the exon 24 splice acceptor site was also more common in patients th
98 a 0 mRNA and the utilization of at least one splice acceptor site was regulated by ICP22 and or US1.5
99 mRNAs resulting from the use of alternative splice acceptor sites were also present in the cytoplasm
100 enomes in either the E6 splice-donor site or splice-acceptor site were reduced in replication ability
102 ation in ISCU that likely strengthens a weak splice acceptor site, with consequent exon retention.
103 ults from a G-->A substitution mutation in a splice acceptor site within the alpha-subunit of Rab ger
104 espond to the accepted splice donor and four splice acceptor sites within the mapped intron domain.
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