ライフサイエンスコーパス: frame-shift mutation

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 had a higher odds of containing nonsense or 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 A frame-shift mutation (121ins2) is the predominant but no

11 ntified (12 missense, four nonsense and five frame-shift mutations); 14 of these were novel.

12 All frame-shift mutations (19/19) were associated with the S

13 tions, seven are missense mutations, two are frame shift mutations and one is intronic mutation.

14 he recessive red flesh allele resulting in a frame-shift mutation and a premature stop codon.

15 4 after the initiation codon) that creates a frame-shift mutation and an abnormal sequence for the la

16 equence for codon 522 in exon 13, leading to frame-shift mutation and premature termination.

17 We conclude that both TGF-beta RII frame-shift mutations and microsatellite instability occ

18 se gene structure rearrangements resulted in frame-shift mutations and premature termination codons.

19 A10 frame-shift mutations appear to be restricted to sporadi

20 ly conserved with mouse Lyst, and contains a frame-shift mutation at nucleotides 117-118 of the codin

21 Frame-shift mutations at microsatellites occur as a time

22 pendent families, we identified a homozygous frame shift mutation c.722dupA (p.Val242Glyfs( *)33) in

23 tions (p.Q51X, p.Y149X, p.C156X), three were frame shift mutations (c.28delG, c.105C>A+106_124dup, c.

24 kn1 alleles carrying nonsense, splicing and frame shift mutations cause severe inflorescence and flo

25 Frame-shift mutations, generated by nucleotide insertion

26 A frame shift mutation in MEU1 abolished its ability to ac

27 unremarkable, but genetic testing revealed a frame shift mutation in SCN1A, consistent with severe my

28 3-kinase p110delta (PIK3CD) and a homozygous frame shift mutation in SKAP (KNSTRN), both ablating pro

29 By genetic mapping, we identified a frame shift mutation in the pericentrin (Pcnt) gene.

30 In addition, repair-dependent frame shift mutations in a GCGCGC region of Salmonella t

31 mutation at nt 2018, could be suppressed by frame shift mutations in either exon of NS2 which reopen

32 apaya accessions showed the presence of this frame-shift mutation in all red flesh accessions examine

33 ng and complete PAI-1 deficiency caused by a frame-shift mutation in exon 4 of the PAI-1 gene.

34 uction in maize (Zea mays) is triggered by a frame-shift mutation in MATRILINEAL (MTL), a pollen-spec

35 We characterized a frame-shift mutation in ssfA1, which encodes an alpha su

36 d level, excluding the amino-terminal end, a frame-shift mutation in the 5' region of the gene in T.

37 ndicate that the Mc phenotype results from a frame-shift mutation in the gene encoding the 16-kDa gam

38 ensitive allele has a disrupted PRD due to a frame-shift mutation in the open reading frame of the do

39 Frame-shift mutations in a run of 10 adenines (A10) of t

40 Jurkat T cell line lacks PTEN protein due to frame-shift mutations in both PTEN alleles and therefore

41 Two frame-shift mutations in GJB2, 167delT and 30delG, were

42 Nonsense, splice-site, or frame-shifting mutations in RS1 consistently caused elec

43 f MCPH after finding homozygous missense and frame-shifting mutations in seven MCPH families.

44 nd 14 patients had nonsense, splice-site, or frame-shifting mutations in the RS1 gene (group B).

45 With SOS, the frequency of frame-shift mutations increased to 2.6%, even though the

46 Frame-shift mutations introduced into just this suppress

47 elevated fat mass and, in both, a homozygous frame-shift mutation involving the deletion of a single

48 After frame-shift mutations occurred that restored the EGFP re

49 In a second family, we identified a frame-shift mutation of GATA4 (E359del) that was transcr

50 Megencephaly, or mceph, is a spontaneous frame-shift mutation of the mouse Kv1.1 gene.

51 are human prostatic cancer cells that have a frame-shift mutation of the tumor suppressor gene PTEN a

52 A novel frame shift mutation, p.

53 the AnkB homologue of the Paris strain has a frame shift mutation that led to a loss of the CaaX moti

54 A frame-shift mutation that causes a form of syndromic epi

55 ssed in flowers, but its IGS gene contains a frame-shift mutation that renders it inactive.

56 ignificance of variants such as nonsense and frame-shift mutations that are assumed to be clearly pat

57 nse mutations, but also include nonsense and frame-shift mutations that result in truncated DP-1 deri

58 In the mutant allele, a frame-shift mutation truncates the protein N terminal of

59 m non-deletion AGS patients, revealing three frame-shift mutations, two splice donor mutations and on

60 A second frame shift mutation was identified in urbs1-2 and is ne

61 ine with the Fas rendered nonfunctional by a frame shift mutation was resistant to H. pylori-induced

62 By a frame-shift mutation, we have engineered a human IGF-I r

63 Within JAK1 the K142, P430, and K860 frame-shift mutations were identified as hot spot mutati

64 MYO1A frame-shift mutations were observed in 32% (37 of 116) o

65 nger nucleases (ZFNs) can introduce targeted frame-shift mutations with high efficiency, thereby enab

66 4 cells were subsequently found to possess a frame-shift mutation within the TLR2 gene which resulted

67 trast to the digital ON-OFF switches through frame-shift mutations within coding sequences, such modu