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

1 dels the change in enhancer signature upon a single nucleotide substitution.

2 U) by the insertion of a nucleotide and by a single nucleotide substitution.

3 of the parent Y942H virus, which possessed a single nucleotide substitution.

4 differentiate a spurious target containing a single-nucleotide substitution.

5 -gamma), and interleukin 10 (IL-10) based on single nucleotide substitutions.

6 with the germ-line sequences with only four single nucleotide substitutions.

7 as similarly affected by linked selection as single nucleotide substitutions.

8 second binding site in E2 that can vary with single nucleotide substitutions.

9 ions in an infected host covers all possible single nucleotide substitutions.

10 g conserved genes, nucleotide deletions, and single nucleotide substitutions.

11 on/duplication of these elements rather than single nucleotide substitutions.

12 , reagentless, room-temperature detection of single nucleotide substitutions.

13 acid changes leading to escape resulted from single nucleotide substitutions.

14 rted in mouse and human and to date, all are single nucleotide substitutions.

15 among LDSIs of a strain were associated with single-nucleotide substitutions.

16 to structural divergence-twice the number of single-nucleotide substitutions.

17 hanges resulting from 3'-untranslated region single-nucleotide substitutions.

18 e sequence, of which 9726 were nonsynonymous single-nucleotide substitutions.

19 used frequency-validated SNPs resulting from single-nucleotide substitutions.

20 and a noticeable capability to discriminate single-nucleotide substitutions.

21 equences, and thus prevents viral escape via single-nucleotide substitutions.

22 Since most dominant human mutations are single nucleotide substitutions(1,2), we explored gene e

23 ciency), a stop codon insertion (36%), and a single nucleotide substitution (19%) in the exopolysacch

24 revealed seven rare and private heterozygous single nucleotide substitutions (4% of individuals).

25 ion, a 1 bp deletion, a 13 bp deletion and a single nucleotide substitution affecting a donor splice

26 proximately 3%, more than half of which were single nucleotide substitutions affecting a basic clamp-

27 -scale analysis of lineage-specific rates of single-nucleotide substitutions among hominoids.

28 of these codon mutations was generated by a single nucleotide substitution and therefore had the pot

29 Of these, 79 were single nucleotide substitutions and 9 sites involved ins

30 data show that Jun-Fos heterodimer tolerates single nucleotide substitutions and binds to TGACTCA var

31 In a test of selectivity, single nucleotide substitutions and deletions could succ

32 ting functional measurements for over 30,000 single nucleotide substitutions and deletions.

33 er filtering, >2000 rare variants (including single nucleotide substitutions and indels) were shared

34 f 25mer probes complementary to all possible single nucleotide substitutions and insertions, and one

35 Single nucleotide substitutions and unique insertions/de

36 the effects of 2 common types of mutations, single-nucleotide substitutions and simple sequence repe

37 Single-nucleotide substitutions and small in-frame inser

38 As expected, single-nucleotide substitutions and small indels occur f

39 Single nucleotide substitutions are 10 times more freque

40 ough oligonucleotide probes complementary to single nucleotide substitutions are commonly used in mic

41 but instead is organized in such a way that single nucleotide substitutions are more likely to resul

42 Single nucleotide substitutions are the most common type

43 Single-nucleotide substitutions are a defining character

44 Non-templated, single-nucleotide substitutions are incorporated at high

45 A single nucleotide substitution at codon 249, predicting

46 Patients with FBD have a single nucleotide substitution at codon 267 in the BRI2

47 Single nucleotide substitution at six of eight positions

48 In most of these cases we observed a single nucleotide substitution at the middle position of

49 d oligodeoxyribonucleotide and distinguishes single nucleotide substitutions at any position of a 20-

50 m switching results from the introduction of single nucleotide substitutions at defined locations in

51 g of the promoter activity revealed that two single nucleotide substitutions at positions -331 and -1

52 me of an organism arises from such events as single nucleotide substitutions at the DNA level, differ

53 Mutation screening of KERA revealed a novel single-nucleotide substitution at codon 215, which resul

54 ges did not reduce tR1 function, 11 specific single-nucleotide substitutions at eight positions inter

55 showed that the mutations were predominantly single-nucleotide substitutions broadly distributed with

56 tically detects the presence of heterozygous single nucleotide substitutions by fluorescencebased seq

57 rations (e.g., insertions and deletions) and single-nucleotide substitutions by comparing the followi

58 nocytopenia caused by a heterozygous de novo single nucleotide substitution, c.35G>A (p.G12E) in RAP1

59 Recent research has illustrated that even a single nucleotide substitution can alter the selective b

60 ncing showed that the defect was linked to a single nucleotide substitution causing an amino acid cha

61 -infectious isolates bosR allele contained a single nucleotide substitution, converting an arginine t

62 We set out to understand how a single nucleotide substitution could cause such a dramat

63 y, these assays identified a site at which a single nucleotide substitution could distinctly impact p

64 Twenty-one constructs with single nucleotide substitutions covering all 15 position

65 A single nucleotide substitution creates an oligo-adenine

66 We report the most common single-nucleotide substitution/deletion mutations in fav

67 t into connected components that represented single nucleotide substitution events revealed a network

68 Genotyping for the single nucleotide substitution (G to A) at position 61 i

69 We identified a single nucleotide substitution (G to A) at position 61 o

70 We found a single nucleotide substitution (G1238T) that results in

71 the second leucine rich repeat, the other, a single nucleotide substitution (G2078 --> A) for the try

72 The truncation is caused by a single nucleotide substitution in a splice donor, leadin

73 and functional interrogation, we identify a single nucleotide substitution in an anthocyanin-activat

74 f different dimorphic polymorphisms based on single nucleotide substitution in chronic HCV patients (

75 f pairs apparently resulted from a concerted single nucleotide substitution in each pairing oligonucl

76 Molecular genetic studies revealed a single nucleotide substitution in SCN5A exon 28 that cau

77 the photorespiratory sat mutants revealed a single nucleotide substitution in the AGT1 gene from the

78 out a family history of uveal melanoma had a single nucleotide substitution in the conserved splice d

79 These data are strong evidence that the single nucleotide substitution in the fa allele of Lepr

80 These data demonstrate that single nucleotide substitution in the human genome is fe

81 ns in stem-loop III allow snRNP formation, a single nucleotide substitution in the loop prevents tran

82 inal (Rld1-O) mutation, which results from a single nucleotide substitution in the miRNA166 complemen

83 site reversion to Tyr, Trp, Phe, or His by a single nucleotide substitution in the original mutant co

84 n of the duck hepatitis B virus that bears a single nucleotide substitution in the pre-S envelope pro

85 d mutant clones containing either SGD with a single nucleotide substitution in the R(144) codon or do

86 ied the gene, ORF 54, which was altered by a single nucleotide substitution in tsN1054.

87 Somatic hypermutation introduces multiple single nucleotide substitutions in and around the rearra

88 ice established two obese pedigrees in which single nucleotide substitutions in Mc4r and Sim1 genes w

89 Three of these polymorphisms are due to single nucleotide substitutions in the alpha-spectrin ge

90 cient bacterium to identify four independent single nucleotide substitutions in the alsK and nanK gen

91 em of the poliovirus cre and was reversed by single nucleotide substitutions in the stem as well as t

92 The majority (86%) of single nucleotide substitutions in this sequence exert s

93 rmed whole exome-sequencing (WES) to profile single nucleotide substitutions in UVB-irradiated primar

94 (SOLiD 3 ECC) for their ability to identify single nucleotide substitutions in whole genome sequence

95 The fourth was a single-nucleotide substitution in intron 2, 11 bp upstre

96 c organization contribute to the patterns of single-nucleotide substitution in normal and cancer geno

97 A single-nucleotide substitution in the intronic region th

98 ids was constructed containing predominantly single-nucleotide substitutions in a 24 nt region previo

99 more stable than the READY state, as several single-nucleotide substitutions in a hypervariable regio

100 Many single-nucleotide substitutions in cancer genomes arise

101 Here, we report measurements of random single-nucleotide substitutions in normal and neoplastic

102 Single-nucleotide substitutions in the 6x octamer that a

103 ndependent human selections of four distinct single-nucleotide substitutions in the GmTfl1 gene, each

104 lly explaining the preferred accumulation of single-nucleotide substitutions in the nucleosome core a

105 characterize viruses harboring all remaining single-nucleotide substitutions in the pentaloop of MHV

106 inated from the reverse strand by synonymous single-nucleotide substitutions in the RdRp gene, sugges

107 Twelve single-nucleotide substitutions in the rpoB gene were de

108 B40-BAC4 and FIX (but not TR) were mapped to single-nucleotide substitutions in UL128L.

109 human genome have been identified, including single nucleotide substitutions, insertion and deletion,

110 Furthermore, we demonstrated that single nucleotide substitutions into the coding region o

111 oach to quantify the effects of all possible single-nucleotide substitutions introduced into importan

112 determined that the frequency of intergenic single-nucleotide substitution is significantly higher i

113 be changed by random mutagenesis and that a single-nucleotide substitution is sufficient to change t

114 ypertrophy in callipyge sheep results from a single nucleotide substitution located in the genomic in

115 Two single-nucleotide substitution mutants (comX::T162C; com

116 A single nucleotide substitution of thymidine to guanine (

117 With both kinetic studies and single nucleotide substitutions of target and guide nucl

118 uration can be altered as a consequence of a single-nucleotide substitution on the target.

119 A mouse transgenic assay shows that these single nucleotide substitutions operate as gain-of-funct

120 All of these alleles are characterized by single nucleotide substitutions or deletions leading to

121 c molecular phenotypes in CMT2E, caused by a single nucleotide substitution (p.N98S) in the neurofila

122 hibited the mutation rate of >/=1.3 x 10(-8) single nucleotide substitutions per site per generation,

123 propose that, in addition to recombination, single nucleotide substitutions played an important role

124 Two single nucleotide substitutions present in the SM sequen

125 Furthermore, single nucleotide substitution probes displayed the most

126 In personal genomes, the single-nucleotide substitution rate is higher near sites

127 LA binding peptides and screened for reduced single nucleotide substitution rates in large genomic da

128 resolution site (trs), CCGGT/CG, contains a single nucleotide substitution relative to the AAV(2) tr

129 Whereas rates of single-nucleotide substitution remain relatively constan

130 isolated from normal cell types contained a single nucleotide substitution, resulting in an amino ac

131 Single nucleotide substitutions reveal that, in contrast

132 Analysis of the genome-wide patterns of single-nucleotide substitution reveals that the human GC

133 P detection method has been validated on all single-nucleotide substitution scenarios in three synthe

134 ral types of spontaneous mutation, including single-nucleotide substitutions, short insertions and de

135 Mice with the corresponding single nucleotide substitution show skeletal abnormaliti

136 guide RNA target region and are comprised of single nucleotide substitutions, small insertions and de

137 quences for quality and number of reads, all single-nucleotide substitutions, small insertion and del

138 m of human genome variation: novel and known single-nucleotide substitutions (SNP/SNV), short inserti

139 However, the origin of single-nucleotide substitutions (SNS) in nonfamilial can

140 ations are typical SHM consisting largely of single nucleotide substitutions targeted to hotspots.

141 nts, the heritable ADPKD mutation involves a single nucleotide substitution that converts the normal

142 e from an ancestral molecule was caused by a single nucleotide substitution that occurred after the c

143 We define an expanded barcode of 95 single nucleotide substitutions that allows rapid identi

144 Interestingly, certain single nucleotide substitutions that impacted Pot1pN bin

145 All five far1 alleles isolated have single nucleotide substitutions that introduce stop codo

146 Nonsense mutations arise from single nucleotide substitutions that result in premature

147 he nonlytic plaque phenotype resulted from a single-nucleotide substitution that shifted a tyrosine r

148 of these enhancers evolved through multiple single-nucleotide substitutions that altered both the ti

149 o acid substitutions in HIV-1 RT; however, a single nucleotide substitution (thymine to cytosine) was

150 human brain evolution span a wide range from single-nucleotide substitutions to large-scale structura

151 We also describe eight noncoding single-nucleotide substitutions, two of which are presen

152 Single-nucleotide substitution type rates are significan

153 ne mutational categories on the basis of the single-nucleotide substitution type.

154 eration and correction of disease-associated single-nucleotide substitutions via homology-directed re

155 A single nucleotide substitution was detected in the GUSB

156 udogene-derived mutation rates for different single nucleotide substitutions we have estimated, for t

157 cleotides required for function, a series of single nucleotide substitutions were introduced in the F

158 Single nucleotide substitutions were made in the core he

159 ected a gacA mutant of Pf-5 that contained a single nucleotide substitution within a predicted alpha-

160 Single nucleotide substitutions within protein coding re