ライフサイエンスコーパス: deletion variant

1 healthy humans were genotyped for the ADRA2B deletion variant.

2 ily in participants homozygous for the GSTM1 deletion variant.

3 ar mixture of a hydroxylated peptide and the deletion variant.

4 eletion versus the 322 to 325 wild-type (Wt)/deletion variant.

5 overall topology was examined using several deletion variants.

6 a few preferred genotypes among the isolated deletion variants.

7 istinct patterns of SDVs, including 5 double-deletion variants.

8 ional effects of non-frameshifting insertion/deletion variants.

9 e fewest genotyping errors for insertion and deletion variants.

10 ion variants and DeltaDeltaG score alone for deletion variants.

11 efficiency of correction for pathogenic 1-bp deletion variants.

12 ction for p53 missense and single-amino-acid deletion variants.

13 nzyme, including novel missense and in-frame deletion variants.

14 as single nucleotide variants and insertion-deletion variants.

15 nt sequences and lengths, as well as histone deletion variants.

16 -nucleotide polymorphisms and four insertion/deletion variants.

17 rroborated the findings from the analysis of deletion variants.

18 er of the intergenic spacer in each of these deletion variants.

19 iants (99%-100%) but low for small insertion/deletion variants (53%-59%).

20 We identified 541 deletion variants (94% novel) ranging from 1 kb to 745 k

21 um to characterize and catalogue segregating deletion variants across the human genome.

22 0 million single-nucleotide and insertion or deletion variants after alignment with the reference gen

23 Except for the last deletion variant, all other variants were unable to comp

24 le, but not among homozygote carriers of the deletion variant allele (0.99; 95% CI: 0.78, 1.27; P for

25 d 23 pathogenic RB1 variants and 2 focal RB1 deletions; variant allele fraction ranged from 30.5% to

26 domains that differ in the wild-type and the deletion variant and support a view of SARS-CoV-2 probin

27 the [4Fe-4S] cluster of both the Fe protein deletion variant and the native Fe protein in the presen

28 The LMP1 deletion variant and the wild-type sequence were also id

29 e donor showed the presence of both the LMP1 deletion variant and the wild-type sequence.

30 Membrane flotation gradient analysis of 1a deletion variants and 1a segments fused to green fluores

31 oupled with the reemergence of hemagglutinin deletion variants and antigenic drift of neuraminidase,

32 ing to generate a series of Hunchback domain deletion variants and assay their function during neurog

33 Here, we survey naturally occurring human deletion variants and identify that 11 million or 57% ar

34 igation of the mechanism of generating these deletion variants and their infectivity in different ani

35 wide patterns of nucleotide polymorphism and deletion variants, and measured the extent of linkage di

36 assembled using different RCC1 homologs and deletion variants, and nucleosomes containing nucleosoma

37 Deletion variants arise in diverse genetic and geographi

38 at the IL2 and IL4 loci along with insertion/deletion variants at the IL12B locus (P =.003-.01).

39 we saw rapid emergence of various low-level deletion variants at the N-terminal domain of the spike

40 the high resolution coordinates of a U2AF65 deletion variant bound to RNA.

41 We constructed a C2 domain deletion variant (C2Delta) and a GR deletion variant (GR

42 an 40 ng of DNA available and that insertion-deletion variant calls are less reliable than single bas

43 sly detect, distinguish, and quantitate exon deletion variant copy numbers of ER.

44 stepwise conditional analysis, including the deletion variant CYP2A6*4 (beta = -0.90, p = 1.55 x 10(-

45 The K(d)(tRNA) value for a loop deletion variant, Delta(227-234), is similar to that for

46 C-Terminal deletion variants (Delta10, Delta20, and Delta33 amino a

47 gment in fibrillization of PrP23-144 using a deletion variant, Delta113-120 PrP23-144, in which the p

48 ng purified full-length Tnp and a C-terminal deletion variant (delta369) that lacks the putative dime

49 For deletion variants, DeltaDeltaG scores >=4.8 Rosetta ener

50 The functional loop deletion variant demonstrated less backtracking than in

51 e report mutations of Klentaq (an N-terminal deletion variant) DNA polymerase that have markedly redu

52 Here we use a P5abc deletion variant E(deltaP5abc) to systematically probe t

53 In contrast, deletion variants (either DeltaSKY or DeltaSKYD49G) elon

54 Hemagglutinin deletion variants emerged concomitantly in multiple Vict

55 s that phosphacan binding is retained in all deletion variants except those lacking the fibrinogen-li

56 iers compared with noncarriers of the ADRA2B deletion variant exhibited a significantly reduced bias

57 Antisera against the mobile loop deletion variants exhibited increased cross-reactivity,

58 ctivities remaining in D1R carboxyl-terminal deletion variants expressed in Escherichia coli BL21(DE3

59 ce in GFP, a series of N- and C-terminal GFP deletion variant expression vectors were created using t

60 the GRM appeared to be important, as a FlgD deletion variant (FlgD(short)), in which the distance be

61 y analyzed enhancer-associated insertion and deletion variants for both human and murine samples usin

62 we generated and analyzed IL-6R stalk region deletion variants for cleavability and biological activi

63 causal variant was identified: an insertion-deletion variant, GCTGT-->A (in which A is the risk alle

64 2 domain deletion variant (C2Delta) and a GR deletion variant (GRDelta) of Psd2p and examined their e

65 ll-length copies, a large number of internal deletion variants have been identified.

66 Analysis of three further N-terminal deletion variants, HlyDDelta26, HlyDDelta26-45 and HlyDD

67 Studies on domain-deletion variants identified the spacer and cysteine-ric

68 s well as transiently expressed sgB4 and its deletion variants; (ii) induction of viral replication i

69 h factors receptor (EGFR) is mutated, as the deletion variant III, resulting in the truncated transcr

70 In contrast, YFP-TBC1D15 co-expressed with deletion variants impaired mitochondrial DRP1 and YFP-TB

71 e deleterious phenotype observed with a PaAP deletion variant in biofilm assays and present a path to

72 nregulation, we identified that an insertion/deletion variant in Glyma.20G85100 is the likely gene th

73 Here, we describe a deletion variant in mDisc1 specific to the 129S6/SvEv st

74 A previously reported 30bp deletion variant in the carboxyl terminal of LMP1 gene w

75 wth advantage of B cells expressing the LMP1 deletion variant in the immunocompromised host.

76 The locations and properties of common deletion variants in the human genome are largely unknow

77 e of generating and potentially accumulating deletion variants in the persisting viral RNA population

78 Deletion variants in this locus were found in 37 countri

79 2.4 A crystal structure of the beta hairpin deletion variant incorporating an A opposite a templatin

80 Inframe insertion and deletion variants (indels) alter protein sequence and le

81 sm spectra and chemical cross-linking of the deletion variants indicate that the secondary and quater

82 ys and Chang cell infection assays with OpaA deletion variants indicated that hypervariable region 1

83 The K(i) value for ANG with the deletion variant is 1.1 fM, only 2-fold higher than with

84 The highly prevalent GSTM1 deletion variant is associated with kidney disease progr

85 m the viral genome may exist, given that the deletion variant is commonly detected after two rounds o

86 ion is completely suppressed in the starting deletion variant lacking the 3' end of the gene.

87 GFP deletion variants lacking fluorescent activity showed no

88 The 30-bp deletion variant (LMP-1-del) was present in 66% of patie

89 ally occurring carboxy terminal 30 base pair deletion variant LMP1-del were transfected into the cell

90 We found that an N-terminal deletion variant missing amino acids M23 to P39 failed t

91 bsorption spectra of full-length GFP and GFP deletion variants missing the chromophore substrate doma

92 investigated recombinant BM 06.022 (a domain-deletion variant mutant from Escherichia coli comprising

93 By PCR, a deletion variant (NBCn1-E) that lacks 123 amino acids in

94 ms and a better understanding of the NSPRRAR deletion variant observed here.IMPORTANCE The spike prot

95 g329Ter) in DDHD2 and a frameshift insertion-deletion variant of AP4B1, c.965-967delACTinsC;p.(Tyr322

96 A genetically engineered deletion variant of D. hafniense PPase lacking the regul

97 ice site variant, a 30-bp in-frame insertion/deletion variant of exon 6 that alters a proline-, gluta

98 etics, CDelta4 (a 4-residue carboxy-terminal deletion variant of FynSH3) appears to be largely unfold

99 A deletion variant of Gas6 containing just the G domain re

100 93 cells transfected with the amino terminal deletion variant of LMP1 or the lytic form of LMP1, know

101 A deletion variant of mouse VPAC2 has been identified in i

102 ics (MD) simulations of wild type and an NTR deletion variant of RecU, with and without HJ.

103 ined whether BOLD activity associated with a deletion variant of the ADRA2b gene coding for the alpha

104 A deletion variant of the dengue virus (DENV) serotype 2 (

105 Here we hypothesized that a functional deletion variant of the gene encoding the alpha2b-adreno

106 The glycoprotein-deletion variant of the SAD-B19 vaccine strain rabies vi

107 These results demonstrate that novel deletion variants of ClC-2 due to partial exon 15 skippi

108 s were not required for receptor binding, as deletion variants of Gas6 which lacked these domains bou

109 an important mechanism for generating viral deletion variants of murine coronavirus.

110 Evidence for mobility of internal deletion variants of other insertion sequences in these

111 Alzheimer's disease-linked and experimental deletion variants of PS1.

112 Kinase-defective point and deletion variants of RIP2 also significantly blocked the

113 A library of random internal deletion variants of S. typhimurium flagellin was constr

114 ty of different SH3 domains to interact with deletion variants of Sam 68 and WASP, we demonstrated th

115 In this study, we identified two deletion variants of SARS-CoV-2 that either directly aff

116 Here, we identified two deletion variants of SARS-CoV-2 that either directly aff

117 ssembly assays performed between a series of deletion variants of sgB4 and wild-type (wt) CP subunits

118 C6 glioma cells adhere to and spread on deletion variants of tenascin-C containing only the epid

119 confirmed by in vitro binding assays, using deletion variants of the C-terminal half of Cbl with and

120 arious specific locations in full-length and deletion variants of the homodimeric Escherichia coli ri

121 the frequency of malignancy-associated 30-bp deletion variants of the latent membrane protein 1 (LMP-

122 Using site-directed mutagenesis and deletion variants of the murine and human IL-23R, we sho

123 of p40 in binding to IL-12RB1, we generated deletion variants of the p40-p19 fusion cytokine.

124 rmed between HIV-1 and FIV integrases and of deletion variants of the two wild-type integrases.

125 Intracellular deletion variants of TLR2 lacking C-terminal 13 or 141 a

126 Using a set of deletion variants of tPA and pharmacological approaches,

127 ureG-1 mutant of Arabidopsis with N-terminal deletion variants of UreG demonstrated that the hypervar

128 addition to successfully detecting the known deletion variants on major histocompatibility complex, w

129 The variant type (the 30-bp deletion variant or nondeleted wild type) of LMP1 gene w

130 by comparing the absorption spectrum of GFP deletion variants over the 300-500-nm range to the absor

131 ing its naturally occurring carboxy terminal deletion variant promote the formation of multinuclear c

132 roaches, we show that a RecB nuclease domain deletion variant (RecB(DeltaNuc)CD) unwinds dsDNA at sig

133 ture of a nitrogenase Fe protein single site deletion variant reveals a distinctly new conformation o

134 The sum of mismatches in deletion variants rs11985201, rs2342606, and rs1944862 w

135 60 controls revealed that a common insertion/deletion variant, rs142885915, was significantly associa

136 20 persistently infected mice harbored spike deletion variants (SDVs), indicating that deletions are

137 y detection of a viral quasispecies of spike deletion variants (SDVs).

138 In addition, the deletion variant showed a more stable incorporation of a

139 ated that, whereas noncarriers of the ADRA2B deletion variant showed increased functional connectivit

140 Fractionation analysis of p29 deletion variants showed that sequences in the C termina

141 g enrichment of very low-frequency insertion/deletion variants, so far under-investigated, which migh

142 espite removal of the DPYSP(OH)S motifs, the deletion variant still displayed Ara h 2 conformational

143 these recombination events were eliminated, deletion variants still arose with the same kinetics upo

144 The crystal structure of a Bcl-xL deletion variant-TCTP11-31 complex reveals that TCTP ref

145 A human presenilin 1 deletion variant that fails to be proteolytically proces

146 hages worsens atherosclerosis in mice, and a deletion variant that lowers IRF2BP2 expression predispo

147 ynthesis of HBV RC DNA by analyzing a set of deletion variants that collectively represent most of th

148 94 controls to detect excess homozygosity or deletion variants that influence susceptibility.

149 Among the deletion variants that retain the ability to associate w

150 FliK deletion variants that retain the ability to measure hoo

151 An insertion-deletion variant thought to affect NFKB1 expression (rs2

152 is report indicate that the ratios of exon 7 deletion variant to wild type in the tumor tissues are s

153 were unaffected by the recurrent C-terminal deletion variant, total HNRNPC levels were decreased.

154 To analyze the effects of the UGT2B17 gene deletion variant (UGT2B17*2) on SAHA glucuronidation phe

155 sion of human VPAC1 and VPAC2, wild-type and deletion-variant VPAC2 bound the same amount of 125I-VIP

156 Unlike wild-type VPAC2, however, deletion-variant VPAC2 did not transduce VIP-elicited in

157 in the MalariaGEN database revealed that the deletion variant was common across transmission areas gl

158 splayed peptide libraries, and S1 truncation/deletion variants was unable to more precisely define th

159 oximal to the TMDs, the vast majority of the deletion variants were functional.

160 nucleotide, nonsense, and short insertion or deletion variants were not further assessed.

161 This single base pair insertion/deletion variant, which results in a run of either 5 or

162 o frameshift effects and a single-amino-acid-deletion variant, which, we show, impacts protein stabil

163 For HIV, theories have proposed that viral-deletion variants, which conditionally replicate with a

164 n connectivity was absent in carriers of the deletion variant, who instead showed overall enhanced co

165 Nonsynonymous, splice-site, insertion, and deletion variants with an estimated population frequency

166 e obtained for 10,641,224 SNPs and insertion-deletion variants with minor allele frequencies >1% and

167 ating or de novo or inherited large in-frame deletion variants with non-NDD phenotypes, including hea

168 om carriers of the protective haplotype of a deletion variant within the 3' untranslated region of th

169 and two other in-frame nucleotide insertion/deletion variants within complementarity-determining reg

170 Here, we analyse chimeras and deletion variants within the recombinase C-terminal doma