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

8 ncluding inhibitors that specifically target single-nucleotide mutations.

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

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

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

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

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

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

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

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

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

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

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

20 Moreover, single nucleotide mutations can convert either alternati

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

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

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

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

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

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

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

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

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

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

31 Single nucleotide mutations in putative branchpoint aden

32 Single nucleotide mutations in the sequence eliminated t

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

49 Single-nucleotide mutations known previously to abolish

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

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

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

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

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

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

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

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

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

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

60 A single nucleotide mutation within an immunodominant Gag

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