戻る
「早戻しボタン」を押すと検索画面に戻ります。 [閉じる]

コーパス検索結果 (１語後でソート)

通し番号をクリックするとPubMedの該当ページを表示します
1 single-nucleotide variants (1 nonsense and 4 frame-shift mutations).
2  the first report of amyloidosis caused by a frame shift mutation.
3 rminus different from that of IIp45 due to a frame-shift mutation.
4 s) intact, whereas the other exhibited an E1 frame-shift mutation.
5 rying Rcr3 and Pip1 alleles with deleterious frame-shift mutations.
6 erases and induce both base substitution and frame-shift mutations.
7 regions and gave rise to common D310 C-tract frame-shift mutations.
8 mature SP-B was associated with nonsense and frame-shift mutations.
9 erase chain reaction primer sets and for A10 frame-shift mutations.
10  had a higher odds of containing nonsense or frame-shift mutations.
11                                            A frame-shift mutation (121ins2) is the predominant but no
12 ntified (12 missense, four nonsense and five frame-shift mutations); 14 of these were novel.
13                                          All frame-shift mutations (19/19) were associated with the S
14 tions, seven are missense mutations, two are frame shift mutations and one is intronic mutation.
15 he recessive red flesh allele resulting in a frame-shift mutation and a premature stop codon.
16 4 after the initiation codon) that creates a frame-shift mutation and an abnormal sequence for the la
17 equence for codon 522 in exon 13, leading to frame-shift mutation and premature termination.
18           We conclude that both TGF-beta RII frame-shift mutations and microsatellite instability occ
19 se gene structure rearrangements resulted in frame-shift mutations and premature termination codons.
20                                          A10 frame-shift mutations appear to be restricted to sporadi
21 ly conserved with mouse Lyst, and contains a frame-shift mutation at nucleotides 117-118 of the codin
22                                              Frame-shift mutations at microsatellites occur as a time
23 pendent families, we identified a homozygous frame shift mutation c.722dupA (p.Val242Glyfs( *)33) in
24 tions (p.Q51X, p.Y149X, p.C156X), three were frame shift mutations (c.28delG, c.105C>A+106_124dup, c.
25  kn1 alleles carrying nonsense, splicing and frame shift mutations cause severe inflorescence and flo
26                                              Frame-shift mutations, generated by nucleotide insertion
27                                            A frame shift mutation in MEU1 abolished its ability to ac
28 unremarkable, but genetic testing revealed a frame shift mutation in SCN1A, consistent with severe my
29 3-kinase p110delta (PIK3CD) and a homozygous frame shift mutation in SKAP (KNSTRN), both ablating pro
30          By genetic mapping, we identified a frame shift mutation in the pericentrin (Pcnt) gene.
31                In addition, repair-dependent frame shift mutations in a GCGCGC region of Salmonella t
32  mutation at nt 2018, could be suppressed by frame shift mutations in either exon of NS2 which reopen
33  generated three mutant alleles with reading frame shift mutations in the zebrafish smyhc1 gene using
34 apaya accessions showed the presence of this frame-shift mutation in all red flesh accessions examine
35 ng and complete PAI-1 deficiency caused by a frame-shift mutation in exon 4 of the PAI-1 gene.
36 uction in maize (Zea mays) is triggered by a frame-shift mutation in MATRILINEAL (MTL), a pollen-spec
37                           We characterized a frame-shift mutation in ssfA1, which encodes an alpha su
38 d level, excluding the amino-terminal end, a frame-shift mutation in the 5' region of the gene in T.
39 e generated a stable line of hamsters with a frame-shift mutation in the Avpr1a gene resulting in the
40 ndicate that the Mc phenotype results from a frame-shift mutation in the gene encoding the 16-kDa gam
41 ensitive allele has a disrupted PRD due to a frame-shift mutation in the open reading frame of the do
42  of resistance to thyroid hormone carrying a frame-shift mutation in the THRA gene (THRA-PV) is assoc
43                                              Frame-shift mutations in a run of 10 adenines (A10) of t
44 Jurkat T cell line lacks PTEN protein due to frame-shift mutations in both PTEN alleles and therefore
45                                   There were frame-shift mutations in consecutive Ts in open reading
46                                          Two frame-shift mutations in GJB2, 167delT and 30delG, were
47                            We identified two frame-shift mutations in the gene encoding Ras-related p
48                    Nonsense, splice-site, or frame-shifting mutations in RS1 consistently caused elec
49 f MCPH after finding homozygous missense and frame-shifting mutations in seven MCPH families.
50 nd 14 patients had nonsense, splice-site, or frame-shifting mutations in the RS1 gene (group B).
51             Furthermore, we identified novel frame-shifts mutations in the CCR5 gene in HIV seronegat
52                   With SOS, the frequency of frame-shift mutations increased to 2.6%, even though the
53                                              Frame-shift mutations introduced into just this suppress
54 elevated fat mass and, in both, a homozygous frame-shift mutation involving the deletion of a single
55                                        After frame-shift mutations occurred that restored the EGFP re
56 tations in endometrial cancer cells, the Y68 frame shift mutation of PTEN constitutes a major mechani
57          In a second family, we identified a frame-shift mutation of GATA4 (E359del) that was transcr
58 ant tubulointerstitial kidney disease due to frame-shift mutation of MUC1 (ADTKD-MUC1) exhibit reduce
59     Megencephaly, or mceph, is a spontaneous frame-shift mutation of the mouse Kv1.1 gene.
60 are human prostatic cancer cells that have a frame-shift mutation of the tumor suppressor gene PTEN a
61                                      A novel frame shift mutation, p.
62                                    These two frame-shift mutations segregated with the disease phenot
63 the AnkB homologue of the Paris strain has a frame shift mutation that led to a loss of the CaaX moti
64                                            A frame-shift mutation that causes a form of syndromic epi
65 ssed in flowers, but its IGS gene contains a frame-shift mutation that renders it inactive.
66 ignificance of variants such as nonsense and frame-shift mutations that are assumed to be clearly pat
67           A majority of ELF3 alterations are frame-shift mutations that result in several cancer-spec
68 nse mutations, but also include nonsense and frame-shift mutations that result in truncated DP-1 deri
69                      In the mutant allele, a frame-shift mutation truncates the protein N terminal of
70 m non-deletion AGS patients, revealing three frame-shift mutations, two splice donor mutations and on
71                                     A second frame shift mutation was identified in urbs1-2 and is ne
72 ine with the Fas rendered nonfunctional by a frame shift mutation was resistant to H. pylori-induced
73                                         By a frame-shift mutation, we have engineered a human IGF-I r
74         Within JAK1 the K142, P430, and K860 frame-shift mutations were identified as hot spot mutati
75                                        MYO1A frame-shift mutations were observed in 32% (37 of 116) o
76 nger nucleases (ZFNs) can introduce targeted frame-shift mutations with high efficiency, thereby enab
77 4 cells were subsequently found to possess a frame-shift mutation within the TLR2 gene which resulted
78 trast to the digital ON-OFF switches through frame-shift mutations within coding sequences, such modu