ライフサイエンスコーパス: single nucleotide mutation

1 were predominant (41% to 55% of all somatic single nucleotide mutations).

2 aused by minor sequence variations such as a single nucleotide mutation.

3 that aims to elucidate how HCM ensues from a single-nucleotide mutation.

4 cess several orders of magnitude faster than single-nucleotide mutation.

5 ly investigate only a subset of all possible single nucleotide mutations.

6 sites from 12 individuals, we confirmed six single nucleotide mutations.

7 in nature because they are inaccessible via single-nucleotide mutations.

8 in humans to model the molecular spectrum of single-nucleotide mutations.

9 ncluding inhibitors that specifically target single-nucleotide mutations.

10 lls, or clones, that share groups of somatic single-nucleotide mutations.

11 f D. simulans Across 89 flies, we observe 58 single-nucleotide mutations, 286 crossovers, and 89 tran

12 In addition to single-nucleotide mutations, a whole-genome duplication

13 substitution (asparagine-->threonine) via a single nucleotide mutation (AAC-->ACC).

14 cept study, we obtained 3,798 non-synonymous single-nucleotide mutations across 38 tumor types throug

15 spectrum consists predominantly (7 cases) of single-nucleotide mutations affecting consensus splice d

16 t MA experiments display similar patterns of single nucleotide mutation and well match the patterns o

17 show that this dynamic switch is affected by single nucleotide mutations and can be biased by small m

18 s, in concert with the previously identified single nucleotide mutations and chromosomal deletions, c

19 , analysis of these structures explained how single nucleotide mutations and methylations in helices

20 ation (mean value: 255) between all possible single-nucleotide mutations and their corresponding wild

21 e CNAs are useful markers in cancer studies, single-nucleotide mutations are equally important, both

22 However, it is still often assumed that single-nucleotide mutations are independent of one anoth

23 ucting the clonal evolution of a tumor using single-nucleotide mutations as the variant allele freque

24 mplification enables the robust detection of single nucleotide mutations at attomolar concentrations

25 Single nucleotide mutations at several sites within this

26 association, we identified recurrent de novo single-nucleotide mutations at nucleotide positions 4 an

27 specificity with which a probe discriminates single nucleotide mutations, both in terms of the initia

28 -match" from mismatched sequences, down to a single nucleotide mutation, buried within longer lengths

29 Second, new alleles can arise not only by single-nucleotide mutations, but also by duplication/del

30 Typically, brains had 20 to 60 detectable single-nucleotide mutations, but ~6% of brains harbored

31 o evaluated in diet bioassay, which showed a single nucleotide mutation can have a significant impact

32 ctions with spliceosomal components) and how single nucleotide mutations can affect the strength and

33 Moreover, single nucleotide mutations can convert either alternati

34 within and between populations is caused by single nucleotide mutations, changes in repetitive DNA s

35 bat and pangolin coronaviruses suggests that single nucleotide mutations could have helped its progen

36 The L1425R mutant can result from a single nucleotide mutation, CTG --> CGG, suggesting that

37 owever, ultra-low coverage sequencing yields single-nucleotide mutation data that are too sparse for

38 e proposed biosensor holds the advantages of single-nucleotide mutation discrimination and the robust

39 Thus, a naturally occurring single-nucleotide mutation dramatically alters virulence

40 eater than the estimated rates of beneficial single-nucleotide mutations, explaining the outsized imp

41 tatively assayed the effects of all possible single-nucleotide mutations for three bacteriophage prom

42 The disorder originates from de novo single nucleotide mutations, generating missense variant

43 cing technologies were able to identify each single nucleotide mutation given at least 10-15-fold nom

44 Consistent with this, WDR26 loss-of-function single-nucleotide mutations identified in these subjects

45 ype DNA nanodevice, DOCTR, that recognizes a single nucleotide mutation in a cancer marker RNA.

46 A single nucleotide mutation in LcTPSa1 caused a premature

47 To study Pic further, we constructed a single nucleotide mutation in strain 042 which altered o

48 A single nucleotide mutation in the pro-region appears to

49 Sequence of the cloned cDNAs revealed the single nucleotide mutation in two alternatively spliced

50 re, we systematically examined the effect of single nucleotide mutations in all 21 positions of an ef

51 erapeutic potential in correcting pathogenic single nucleotide mutations in cell and animal models of

52 Single nucleotide mutations in putative branchpoint aden

53 ng is a promising tool to correct pathogenic single nucleotide mutations in research or therapeutic s

54 Therapeutic targeting of allele-specific single nucleotide mutations in RNA is a major challenge

55 Single nucleotide mutations in the sequence eliminated t

56 revealed a heterozygous, nonconservative T>C single-nucleotide mutation in alphaENaC that substituted

57 on, SYNGAP1; L813RfsX22, and a second with a single-nucleotide mutation in an intron that creates a c

58 d targeted deep sequencing to detect a novel single-nucleotide mutation in chromosome 4q32 (4q32A>C)

59 Although it is caused by a single-nucleotide mutation in the beta-globin gene, sick

60 tant C. elegans genome and thus pinpointed a single-nucleotide mutation in the genome that affects a

61 We recently discovered a single-nucleotide mutation in the group A Streptococcus

62 t the labeled enzyme can be used to identify single-nucleotide mutations in a procedure that could be

63 We show that this assay detects single-nucleotide mutations in an immunodominant CTL epi

64 In this study, eleven nuclear suppressors of single-nucleotide mutations in CCG were isolated and cha

65 cloned genome cDNA fragments identified two single-nucleotide mutations in cloned genome fragment F,

66 e family were found to have two heterozygous single-nucleotide mutations in exon 12 of the TGFBI gene

67 that of amino acid sites, selection against single-nucleotide mutations in intergenic DNA makes a su

68 yl-N-nitrosourea (ENU) efficiently generates single-nucleotide mutations in mice.

69 It is caused by de novo single-nucleotide mutations in the LMNA gene that activa

70 DNA templates of clinically relevant single-nucleotide mutations in the rpoB gene were create

71 expression, we quantified the effects of 235 single-nucleotide mutations in the Saccharomyces cerevis

72 For type I and II CRISPR-Cas systems, single-nucleotide mutations in the seed or protospacer a

73 or deletion, result in break-repair-induced single-nucleotide mutations in the vicinity of structura

74 as few as 5 bp on one flank of a selectable single nucleotide mutation is sufficient substrate for r

75 The ability to identify single-nucleotide mutations is critical for probing cell

76 Single-nucleotide mutations known previously to abolish

77 nterspecies expression difference, including single nucleotide mutations leading to turnover of trans

78 DNA sequencing detected two coding region single-nucleotide mutations located in exons 4 and 6.

79 Single nucleotide mutations, multi-base insertions and d

80 ders RIG-I signaling less effective, whereas single nucleotide mutation of m(6)A consensus motif of v

81 nd the Belgrade rat, which have an identical single nucleotide mutation of this gene that affects pro

82 tify PTC readthrough in live cells and found single nucleotide mutations of human tRNAArg gene varian

83 describe a strategy to analyze the impact of single nucleotide mutations on protein function.

84 he context of the full-length yopE gene, the single-nucleotide mutation reduces the type III injectio

85 structure of the S-paRNA, revealing how the single nucleotide mutation regulates the E-cadherin prom

86 The remainder are single-nucleotide mutations (SNMs; 44%) and large struct

87 ent cells give rise to a model whereby novel single-nucleotide mutations, structural variants and cop

88 he functionality of this enhancer, finding a single nucleotide mutation sufficient to impair its acti

89 mutational library containing every possible single-nucleotide mutation surrounding the active site o

90 inked-read mutations, which are co-occurring single nucleotide mutations that are rare, or entirely m

91 Whole genome sequencing was used to identify single nucleotide mutations that could be attributed to

92 We apply our method to identify six single nucleotide mutations that recover 59% of the fitn

93 rmines the amino acid changes accessible via single-nucleotide mutations, thus influencing protein ev

94 we identified a sufficiently large number of single-nucleotide mutations to measure context-dependent

95 Through a single nucleotide mutation, we disrupted this tertiary i

96 ducts showed that the truncation is due to a single nucleotide mutation which produces an early polya

97 A single nucleotide mutation within an immunodominant Gag

98 is platform to build and test every possible single nucleotide mutation within the PTC-ring, A-loop a

99 enome sequence analysis identified different single nucleotide mutations within the mprF genes of all