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

1 p to 30 nucleotides in length differing by a single base substitution.

2 train-specific genetic polymorphism due to a single base substitution.

3 which codons are mutually exchangeable by a single-base substitution.

4 d by site-directed mutagenesis, usually by a single-base substitution.

5 eletion variant calls are less reliable than single base substitutions.

6 kely to be due to both inherited and somatic single base substitutions.

7 sible amino acid changes that can arise from single base substitutions.

8 ancers, where each signature is a pattern of single base substitutions.

9 ines have been developed for the analysis of single base substitutions.

10 rtiary interactions in a group I ribozyme by single-base substitutions.

11 titutions, whereas 10.0% showed semitargeted single-base substitutions.

12 f these were derived from GGX for glycine by single-base substitutions.

13 including a three-nucleotide deletion and 12 single-base substitutions.

14 All mutations were single base substitutions, 10 were missense and 5 were s

15 We identified 49 single-base-substitution, 11 doublet-base-substitution,

16 mutations were identified in 25 patients (23 single-base substitutions, 3 deletions, 1 duplication).

17 Also, the level of semitargeted single-base substitutions 5' to the lesion was increased

18 Bidirectional sequencing identified the single-base substitution +57C>T in miR-184.

19 molysis bullosa simplex patient with a novel single base substitution (A-->T1414) that changes the ly

20 th an increased mutagenic frequency for both single base substitutions and deletions compared with un

21 quantitation of various mutations including single base substitutions and indels down to 0.001% VAF

22 ung samples, from small-scale events such as single base substitutions and insertions/deletions, to c

23 spectrum in which T-->C is the most frequent single-base substitution and differs significantly from

24 silon synthesizes DNA accurately, generating single-base substitutions and deletions at average error

25 of the induced psoralen-pcPNA mutations were single-base substitutions and deletions at the predicted

26 ed for mutations resulting from all types of single-base substitutions and for a wide variety of sing

27 g acute infection is predominantly fueled by single-base substitutions and is limited by treatment in

28 We extract signatures of RNA single-base substitutions and link their aetiology to th

29 C of the human factor IX gene and 100% of 42 single-base substitutions and one microdeletion present

30 y of disease-associated mutations constitute single-base substitutions and short deletions and/or ins

31 BEs), which can correct the four most common single-base substitutions, and prime editors, which can

32 nt can detect 10 of the 12 types of possible single-base substitutions; and (ii) the SSCP component i

33 g than standard DNA alone and that hachimoji single-base substitutions are distinguishable with high

34 Inherited, single-base substitutions are found at only two position

35 odel mutant DNA fragments, each containing a single base substitution, are achieved using both single

36 ture is characterized by a high frequency of single-base substitutions as well as insertions and/or d

37 start: the binding of Fis is suppressed by a single base substitution at position -146.

38 DNA site for Fis: binding is suppressed by a single base substitution at position -99.

39 B cells of C3H/HeJ mice reveals a consistent single base substitution at position 870, where a thymid

40 A single base substitution at the stop codon of this gene

41 The results revealed that either a single base substitution at the TA step or in the adjace

42 ss, we compared the cleavage kinetics of all single base substitutions at 152 sites across the Bacill

43 in certain sequence contexts, and generates single base substitutions at an average rate of 2.4 x 10

44 Single base substitutions at the G:C base pairs were the

45 Single-base substitutions at G/C pairs were the predomin

46 this observation by generating all possible single-base substitutions at positions 43, 44, and 45 of

47 se substitutions are not due to two adjacent single base substitutions but likely occur as single gen

48 9-base PCR product enables identification of single base substitutions by direct molecular weight det

49 Analysis of more than 1500 single-base substitutions by human pol eta indicates tha

50 In addition: (i) single base substitutions caused discontinuous distribut

51 ce specificity of HilC and HilD, a series of single base substitutions changing each position in a DN

52 Single base substitutions comprised 86% of the N-OH-AABP

53 yzed where mass differences corresponding to single base substitutions could be accurately assigned.

54 We observed divergent spectra of single base substitutions derived from general and induc

55 ecular spectrum of fast-neutron (FN)-induced single base substitutions differed substantially from th

56 This fact, combined with the high rate of single base substitution errors and complex mutations ob

57 A single base substitution (G to A) in the promoter region

58 vo (that is, newly arisen and not inherited) single-base substitution, G608G(GGC > GGT), within exon

59 DNA molecules differing by as little as a single-base substitution have traditionally been disting

60 Whole genome sequencing revealed a single base substitution in Dde_2265, the sulfate adenyl

61 spectively, and a nonsense mutation due to a single base substitution in exon 4.

62 A single base substitution in SMN2, c.859G>C,, was identif

63 reduced infectivity of CM972 and detected a single base substitution in TC_0236 in CM3.1 that may be

64 inct by flaA PCR-RFLP but differed only by a single base substitution in the 582-bp region.

65 cted individuals showed heterozygosity for a single base substitution in the apoAII stop codon.

66 nsfected 3T3-L1 cells demonstrated that this single base substitution in the putative E2 box signific

67 k clusters in two counties were defined by a single base substitution in the viral genome.

68 se(6), contributed the largest proportion of single base substitutions in adenocarcinomas, and was en

69 e used N-ethyl-N-nitrosourea (ENU) to induce single base substitutions in spermatogonial stem cells.

70 nal significance of the G24 residue, we made single base substitutions in SRP RNA at this position an

71 Single base substitutions in the -10 hexamer, but not in

72 ated by the effects of several deletions and single base substitutions in the nir promoter upstream s

73 is and candidate genes for causing the major single-base substitution in cancer-associated DNA mutati

74 Deep sequencing identified a single-base substitution in guanylate cyclase 2D, membra

75 tospacer, mice homozygous for a PE2-mediated single-base substitution in the Tspan2 CArG box displaye

76 Bi-ddF detected 100% of 28 single-base substitutions in a 494 bp segment containing

77 gene-modifying proteins capable of creating single-base substitutions in DNA, can be used to perturb

78 We have accumulated over 20 single-base substitutions in T. thermophilus 16S and 23S

79 The remaining seven mutations (58%) were single-base substitutions in the coding (ND1, ND4, ND5,

80 Single-base substitutions in the fnr and resA promoters

81 We identified 7 different single-base substitutions in the gene (ELA2) encoding ne

82 ting the next correct nucleotide, generating single-base substitutions in the process.

83 Because single-base substitutions in the UhpA-binding region had

84 16 alterations of 36% (nine deletions, three single base substitutions, including one polymorphism).

85 B that can result in the Rif(r) phenotype by single-base substitution is more limited than in certain

86 , such as an ethyl-methane sulfonate derived single base substitutions, is limited by array coverage

87 The most common OI mutations are single base substitutions leading to replacement of Gly

88 eosarcomas exhibit a specific combination of single-base substitutions, LOH, or large-scale genome in

89 timepoint across types of variants (based on single based substitution molecular signatures) and iden

90 poB gene of this clinical isolate revealed a single base substitution, most likely a silent point mut

91 ls, approximately 70% of mutations comprised single-base substitutions, mostly at G.C base-pairs, wit

92 cally characterizes the mutation density for single-base substitution mutational classes after adjust

93 We extracted 16 distinct single-base substitution mutational signatures, reflecti

94 Two single base substitution mutations discovered in the ORF

95 Single base substitution mutations in codons 248 and 273

96 We did observe an elevated occurrence of single base substitution mutations within mutation signa

97 tiple mutagenic outcomes including signature single-base substitution mutations (isolated and cluster

98 For single-base substitution mutations, PASA and MuSiCal out

99 the RY box region has been used to show that single-base substitutions of A(r)G either 23 or 19 bp 5'

100 multigenerational family, identified unique single-base substitutions of highly conserved residues w

101 Similar binding studies with single-base substitutions on d(TGTCATTG) further reveal

102 g of the entire 2.2-Mb interval identified 2 single-base substitutions, one in an intergenic region a

103 s as well as all mismatches, including three single-base substitutions, one microdeletion, one microi

104 Each mutational lesion (single base substitution or deletion) extended the fabK

105 eference strain emm sequences as a result of single base substitutions or other alterations likely to

106 g on transcription conditions, AID can cause single-base substitutions or MCMs.

107 hexanucleotide and its variants derived by a single base substitution, particularly A --> G and T -->

108 however, have indicated that, in addition to single-base substitutions, Polkappa generates single-bas

109 Finally, we identified a common, silent, single-base substitution polymorphism in the 5HT3R gene

110 e TGF-beta1 gene promoter has identified two single base substitution polymorphisms.

111 Single base substitutions predominated including frequen

112 The sequence of Cytinus showed 121 single base substitutions relative to Nicotiana (8% of t

113 Recently, RNA single base substitution (RNA-SBS) signatures were defin

114 erlying mutational processes for various DNA single base substitution (SBS) signatures and their asso

115 e often decomposed into a combination of the single-base substitution (SBS) "signatures" observed in

116 nal MSH6 is critical for the reduced rate of single-base substitution (SBS) mutations in gene bodies

117 A2 to elicit a cancer-associated, mutational single-base substitution (SBS) signature in nonmalignant

118 The single-base substitution (SBS) signatures of all CS BE c

119 ke (APOBEC)-associated mutational signatures single-base substitution (SBS)2 and SBS13 were present i

120 Single base substitutions (SBSs) and insertions/deletion

121 mparison, we characterized 54 signatures for single base substitutions (SBSs), 11 for doublet base su

122 data shows a predominance of UVR-associated single base substitution signature 7 (SBS7) in the major

123 ions, known as a cancer mutational signature single-base substitution signature 11 (SBS11).

124 Characterization of the single-base substitution signature induced by APOBEC3G i

125 ted indel and doublet base signatures, and a single-base-substitution signature that we termed SBS_H8

126 Single base substitution signatures SBS85, SBS37, and SB

127 ows high similarity to the cancer-associated single-base substitution signatures SBS18 and SBS36.

128 ecificity followed by those complementary to single base substitutions, single base deletions and sin

129 ted diseases have been found to be caused by single base substitutions, small insertions or deletions

130 However, we found a higher frequency of single base substitution than deletion mutations.

131 break repair is eightfold more mutagenic for single-base substitutions than was previously understood

132 nscription and growth properties contained a single base substitution that increased the M gene end U

133 activation segment of the kinase domain as a single-base substitution that converts a valine to gluta

134 is most commonly caused by the Z mutation, a single-base substitution that leads to AAT protein misfo

135 Family 1 had a single-base substitution that led to the replacement of

136 The mutation responsible is a single-base substitution that produces truncation of the

137 embly of 3HT and 5HT complexes is blocked by single-base substitutions that disrupt individual interm

138 an airway epithelial cells and indicate that single base substitution (the silent mutation giving ris

139 pair missense mutations, one frameshift, one single base substitution to a stop codon and one dinucle

140 facilitate the high-fidelity introduction of single-base substitutions via HDR following co-delivery

141 A single base substitution was detected in spl11, which re

142 of intron-gain alleles with that for derived single-base substitutions, we also provide evidence that

143 When the mobilities of 46 single base substitutions were characterized, the distri

144 Single base substitutions were introduced into the P loo

145 changes in electrophoretic mobilities due to single base substitutions were measured for single-stran

146 However, we report that two-thirds of single base substitutions were tolerated without loss of

147 m the remains and one living relative, and a single-base substitution when compared with a second rel

148 HD domain mutations that we identified were single-base substitutions, whereas all of the PEST domai

149 the exon-skipping mutations that are due to single base substitutions, which we have identified in 2

150 s analyses reveal several types of clustered single-base substitutions, which include doublet- and mu

151 The d4-95 and d4-96 alleles are single base substitutions, while d4-662 (previously pawn

152 comparison between two cDNAs, differing by a single base substitution within the 3'-untranslated regi

153 recA operator mutants, we found that several single base substitutions within the 14 bp recA operator

154 Single-base substitutions within the 10-bp core sequence

155 nts, enabling isolation of mutant lines with single-base substitutions without antibiotic selection.