ライフサイエンスコーパス: point mutation

1 ceptor mutation (exon 19 deletion or exon 21-point mutation).

2 ng of glioma mutations (TP53 deletion; H3F3A point mutations).

3 were then used for the detection of somatic point mutations.

4 ependence of its rate on light intensity and point mutations.

5 cal framework that allows modeling of coding point mutations.

6 reporters or the conditional introduction of point mutations.

7 entration-dependent, and sensitive to single-point mutations.

8 specifically to thymines, creating specific point mutations.

9 r mechanisms such as a complex set of single-point mutations.

10 ntibiotics known as quinolones due to single-point mutations.

11 ancer, including copy number alterations and point mutations.

12 in genes affected by both rearrangements and point mutations.

13 ocess involving a minimal number of eligible point mutations.

14 rolled manner by pH, temperature, and select point mutations.

15 he scope and efficiency of genome editing of point mutations.

16 rking pH of the protein or performing single point mutations.

17 other clinically important cancer-associated point mutations.

18 ffer from poor specificity in discriminating point mutations.

19 This evasion can be due to point mutations (1) , large-scale deletions (2) , DNA mo

20 The novel point mutation 3C(L127P) increased yields of recombinant

21 ause of DEE in these individuals was de novo point mutations (53/63 solved cases), followed by inheri

22 The ERBB2/HER2 point mutations (8.2% [26 of 317]), microsatellite insta

23 y parts of Asia, we have identified a single point mutation (A302S) in the GABA receptor RDL that has

24 NA topoisomerase activity and that the R173A point mutation abolishes the unknotting activity for ssR

25 ic Kit(V558Delta) mutation was combined with point mutations abrogating specific phosphorylation site

26 While how recurring point mutations affect kinase activity has been describe

27 n especially sensitive to this reaction, and point mutations affecting surface tyrosines are observed

28 D); however, the mechanism by which specific point mutations alter PTEN function is largely unknown.

29 Promoter deletion and point mutation analyses revealed that a region between n

30 Point mutation analysis revealed that A30, V33, W38, and

31 JAK2, GNAS, TET2, and ASXL1), including 196 point mutations and 20 indels.

32 his generates diverse libraries of localized point mutations and can target multiple genomic location

33 t AID activity also contributes to oncogenic point mutations and chromosome translocations associated

34 Point mutations and deletions of this domain lead to a c

35 etic and clinical diversity of PMD-including point mutations and duplication, triplication, and delet

36 ) contribute oligogenic alleles by combining point mutations and exonic CNVs in multiple genes.

37 dies of such cancers have reported recurrent point mutations and focal deletions of another ETS membe

38 Somatic mutations, including point mutations and gene fusions, were commonly found in

39 making it possible to track the progress of point mutations and indels that are associated with resi

40 Detection of point mutations and single nucleotide polymorphisms in D

41 l approaches available for analyzing somatic point mutations and small insertions or deletions, but a

42 one harboring the most prevalent pathogenic point mutation, and compared them with two existing mode

43 n mutations, 23% FLT3-tyrosine kinase domain point mutations, and 2% both types.

44 s study, we performed a series of deletions, point mutations, and domain swaps to identify a 12-resid

45 f protein encounter complexes by just single-point mutations, and provide a rational framework for ad

46 s, remarkably little is known about how TP53 point mutations are acquired, how LOH occurs, or the cel

47 ncreatic ductal adenocarcinoma, no recurrent point mutations are detected.

48 e naturally occurring, amyloidogenic, single-point mutations are located in the beta-domain of lysozy

49 Both point mutations are proximal to the kinesin-binding site

50 Conventional approaches to detect point mutations are usually based on technologies such a

51 Furthermore, an independent loss-of-function point mutation, Arf8-8, had no detectable effects on P1/

52 De novo point mutations arise predominantly in the male germline

53 ve samples that were sequenced, 36.2% showed point mutations associated with clarithromycin resistanc

54 are hyperallergic, while mice with a single point mutation at amino acid 1648, silencing kinase acti

55 In contrast, mice carrying a single point mutation at amino acid 1648, which silences TRPM7

56 A point mutation at lysine 255 in human alpha-actinin-4 to

57 site at the RIF1 locus and introduction of a point mutation at the histone H2AFX locus to abolish ass

58 roach to generate comprehensive libraries of point mutations at a defined genomic location and system

59 evolve functional variation by accumulating point mutations at functionally important amino acid pos

60 Point mutations at position R882 have been shown to caus

61 Point mutations at the ATPase site bias Get3 toward clos

62 ing the YscU-YscP interaction by introducing point mutations at the interaction interface significant

63 Single point mutations at the interface on either CRY1 or CLOCK

64 secondary structure; 2) detection of single-point mutation based on secondary structure; and 3) comp

65 ng use DNA sequencing to interrogate somatic point mutations because they are relatively easy to iden

66 and blood mtDNA contained low heteroplasmic point mutations, but a panel of ten individual iPSC line

67 , the bulk of genetic changes is not somatic point mutations, but rather somatic copy-number alterati

68 and in response to exogenous stress, induce point mutations by mis-replication of oxidized bases and

69 The first harbored a NRAS point mutation (c.35G>A) in codon 12, resulting in a p.G

70 The second sample presented a HRAS point mutation (c.38G>T) in codon 13, resulting in a p.G

71 mouse model with NB disruption mediated by 2 point mutations (C62A/C65A) in the Pml RING domain.

72 We conclude that the point mutation C64T in the TYR gene is responsible for t

73 The repair of a point mutation can be facilitated by combined activity o

74 mber amplification during accrual of distant point mutations can potently facilitate poxvirus adaptat

75 Two rationally chosen point mutations cause a notable increase in activity.

76 HD), a domain where most leukemia-associated point mutations cluster.

77 A point mutation converting lysine 44 of Dyn2 to alanine (

78 from point mutations, current approaches to point mutation correction are inefficient and typically

79 These results suggest that a de novo TBL1XR1 point mutation could alter Wnt/beta-catenin signaling ac

80 In addition, other point mutations could affect the extent of potentiation

81 Although most genetic diseases arise from point mutations, current approaches to point mutation co

82 alyzed the ability of HSV-2 vhs carrying the point mutation D215N, which ablates its endoribonuclease

83 ents treated with CPB therapies, we observed point mutations, deletions or loss of heterozygosity (LO

84 The majority of point mutations detected in different fragments from rec

85 eration DNA sequencing reactions and in situ point mutation detection assays in preserved tumour samp

86 Furthermore, we show that single point mutations directed to disrupt the CRAC domains of

87 ribe a novel strategy that enabled exquisite point mutation discrimination with isothermal DNA amplif

88 e that CNV facilitates the accumulation of a point mutation distant from the expanded locus.

89 rents-offspring trios to examine the de novo point mutations (DNMs) in the offspring.

90 Point mutation, duplication, or triplication of the alph

91 A point mutation (E102Q) in the ligand-binding domain resu

92 w that the optimized combinations of matched point-mutations enabled efficient generation of murine b

93 ng a rationally designed minimal set of four point mutations (F467S-S498F-L505T-Q525E, termed TRPV2_Q

94 plicative repair, and show increased de novo point mutations flanking the rearrangement junctions.

95 phimurium SJW1660 strain, which differs by a point mutation from the wild-type strain, assembles into

96 ely tested using a benchmark containing 2690 point mutations from 132 different protein structures.

97 We identified two GRASP1 point mutations from intellectual disability (ID) patien

98 Notably, Top3beta proteins bearing point mutations from schizophrenia and autism individual

99 Here, we demonstrate that two human Polmu point mutations, G174S and R175H, previously identified

100 Point mutation (G239C) of Rrp2 abolishes the transcripti

101 e structural changes due to Cu-binding and a point mutation (G41D) were revealed by EID-MS.

102 A single point mutation generates the cataract-related variant ga

103 D that is heterozygous for a disease-causing point mutation (Gfap(R236H)(/+)) (and thus expresses bot

104 n the MMDS1 disease state that result from a point mutation (Gly208Cys) near the active site of NFU1,

105 While point mutations have been extensively studied, chromosom

106 Point mutations have emerged as prominent biomarkers for

107 We find that two rationally chosen point mutations (His447Gln and His447Asn) cause notable

108 that mimics the most common pathogenic TCF4 point mutation (human R580W, mouse R579W) and one that d

109 nerated a novel murine allele by inserting a point mutation identified in a patient with NSCL/P.

110 quential cytoplasmic TbetaRI truncations and point mutations identified a targeting motif between res

111 s were attributed to insertions/deletions or point mutations identified in O-antigen synthesis or mod

112 Point mutations identified two amino acids (Lys-98 and A

113 ethod is sensitive enough to detect a single point mutation in a protein, as demonstrated here by the

114 A point mutation in a putative glycogen synthase kinase ph

115 om the Zebrafish Mutation Project carrying a point mutation in a splice donor site.

116 Each evolved strain has a point mutation in a transcriptional activator for xylose

117 Instead these landraces possess a novel point mutation in Btr1, changing a leucine to a proline

118 the hearts of mature Mdx mice (which have a point mutation in Dmd)-a model of Duchenne muscular dyst

119 ty despite carrying an identical, homozygous point mutation in IKBKAP, encoding IkappaB kinase comple

120 WGS revealed a point mutation in noncoding RNA RNU12 that was associate

121 leak (Clarkson's disease) associated with a point mutation in p190BRhoGAP.

122 To address this, we infected mice with a point mutation in Roquin1/Rc3h1 (sanroque).

123 upted in stress response1 (dsr1), which is a point mutation in SDH1 identified in a loss of SA signal

124 tion of this interaction, including a single point mutation in talin, which disrupts KANK1 binding bu

125 Additionally, a point mutation in Tet that specifically abolishes the di

126 In sickle-cell disease, a point mutation in the beta-globin chain causes haemoglob

127 , we isolated a new spch-5 allele carrying a point mutation in the bHLH domain that displayed normal

128 n be converted to sterol binders by a single point mutation in the caveolin-binding motif.

129 northern Swedish descent who share a single point mutation in the fourth intron of the ISCU gene.

130 A point mutation in the Gal1 co-activator that disrupts th

131 FD is caused by a point mutation in the gene IKBKAP/ELP1 that results in a

132 e of residues that could arise from a single point mutation in the genome, which can then be compared

133 Here, we show that a genetic point mutation in the glycosaminoglycan recognition moti

134 This revealed that the causal point mutation in the gpat6-a mutant introduces a charge

135 onses in a zebrafish mutant line harboring a point mutation in the GR DNA-binding domain, suggesting

136 Studies using CRD-BP variants with a point mutation in the GXXG motif at each KH domain showe

137 A point mutation in the highly conserved HPD motif of the

138 a rare genetic disorder that is caused by a point mutation in the LMNA gene, resulting in production

139 sed a patient cybrid cell line with a single point mutation in the overlap region of the ATP8 and ATP

140 Mice carrying a hypomorphic point mutation in the Ptpn6 gene (Ptpn6(spin) mice) deve

141 We generated a mouse with a point mutation in the RNA recognition motif of the Nup35

142 This insertion worked together with a point mutation in the second APC allele to initiate tumo

143 suzukii, by creating a temperature-sensitive point mutation in the sex-determination gene, transforme

144 A point mutation in the signal peptide breaks the alpha he

145 nt inbred lines, including Oh43, which has a point mutation in the start codon of Bx13 and lacks both

146 x(3-69) paralytic mutant, which has a single-point mutation in the t-SNARE and displays enhanced spon

147 ing loss in humans (DFNA36), which harbors a point mutation in the Tmc1 gene, we show that this mutat

148 GCD is caused by a point mutation in the transforming growth factor-beta-in

149 ified according to subtype of FLT3 mutation: point mutation in the tyrosine kinase domain (TKD) or in

150 A point mutation in this motif markedly reduces TF-FVIIa a

151 en (Tmc1(Bth/Bth)) mice, which have an M412K point mutation in TMC1 that adds a positive charge, we f

152 on of Glu139 in beta-tropomyosin caused by a point mutation in TPM2 gene is associated with cap myopa

153 A single point mutation in Tubb4a (p.Ala302Thr) was found in homo

154 Loss-of-function point mutations in a component of this ligase complex, F

155 Fol strains that evade I-2 recognition carry point mutations in Avr2 (e.g. Avr2(R45H) ), but retain f

156 For somatic point mutations in coding and non-coding regions of the

157 lacking E3L revealed several high-frequency point mutations in conserved poxvirus genes, suggesting

158 ly 7% of AC probands negative for pathogenic point mutations in desmosomal genes, highlighting the po

159 Point mutations in DNA are useful biomarkers that can pr

160 We then determined the effects of equivalent point mutations in each of the two enzyme active sites t

161 ring of markerless knock-ins, knock-outs and point mutations in each of three model cyanobacteria; Sy

162 her investigate the effect of two pathogenic point mutations in FGFR3 (A391E and G380R) on heterodime

163 herited heart muscle disease associated with point mutations in genes encoding for cardiac desmosome

164 Point mutations in genes encoding sarcomeric proteins ar

165 , which account for half of known pathogenic point mutations in humans.

166 With this aim, we evaluate the effect of point mutations in loop L1c-FlapI, loop L6c, and helix a

167 Finally, we show that rationalized point mutations in MYC that disrupt interaction with HCF

168 Point mutations in NLRC4 cause autoinflammatory syndrome

169 In contrast to P53 point mutations in other cancer, complete loss of P53 is

170 this, a series of Lyn-GFP constructs bearing point mutations in particular domains of Lyn were overex

171 in vitro for resistance to AN3661 harboured point mutations in pfcpsf3, which encodes a homologue of

172 Point mutations in RPM-1 that reduce binding to RAE-1 di

173 Point mutations in Sas-4 that prevent Cdk1 phosphorylati

174 We identified BRPF1 deletions or point mutations in six additional individuals with a sim

175 Point mutations in SLC6 transporters cause misfolding, w

176 We show that point mutations in SMARCA4 (also known as BRG1) mapping

177 le it achieves neurotoxin resistance through point mutations in sodium channels.

178 Recurrent point mutations in SPOP define a distinct molecular subc

179 rs a molecular explanation for the effect of point mutations in the 5q31.3 microdeletion syndrome.

180 n naturally occurring, amyloidogenic, single-point mutations in the alpha-domain, we chose three spec

181 mic tobacco (Nicotiana tabacum) mutants with point mutations in the aSD coupled with genome-wide anal

182 Point mutations in the BICD2 gene have been identified i

183 We target common point mutations in the BRAF, KRAS and PIK3CA oncogenes i

184 Accordingly, deletion of CARDs or point mutations in the CARD2-Hel2i interface decreases t

185 s resistant to antibiotics by acquisition of point mutations in the chromosome.

186 Single amino acid point mutations in the conserved eIF2alpha binding domai

187 Point mutations in the conserved PilMNOP alignment subco

188 efects in ERMES can, however, be bypassed by point mutations in the endosomal protein Vps13 or by ove

189 We identified single-point mutations in the Fc domain (e.g., E345K or E430G)

190 Point mutations in the gene encoding the human dopamine

191 By introducing point mutations in the GRK5 RHD-kinase domain interface,

192 Point mutations in the hinge region leave core Mediator

193 egation propensity, we made a diverse set of point mutations in the hnRNPA2B1 prion-like domain.

194 Overexpression of the complex and point mutations in the individual subunits of PRC2 have

195 A number of point mutations in the intracellular Ca(2+)-sensing prot

196 Point mutations in the moving beta5 and neighbouring bet

197 In addition, certain point mutations in the NEMO (IKBKG) human gene manifest

198 ed length heterogeneity of siRNAs, caused by point mutations in the phosphate-binding pocket of the D

199 Point mutations in the predicted oligomeric interface di

200 Certain point mutations in the propeller domain of PfKelch13 are

201 We first identify single point mutations in the RNA that maximally sample subopti

202 Moreover, single point mutations in the RPA32 subunit of RPA that abolish

203 Introduction of point mutations in the SRSF3-binding site or knockdown o

204 We identified adaptive point mutations in the viral RNA polymerase gene A24R an

205 Point mutations in this Galphaq region completely abroga

206 Point mutations in this helix resulted in loss of polyme

207 By combining H to R point mutations in three out of the four diazepam-sensit

208 Fitness effects of point mutations in three phylogenetically divergent IGPS

209 1-TSC2 interactions and analyze pathological point mutations in tuberin.

210 KEY POINTS: Mutations in genes encoding cardiac troponin I (

211 ly 10 fold and could be reversed by a single point mutation, indicating that a model akin to a protei

212 We inserted eGFP or point mutations into rhodopsin genes by co-injection of

213 Introduction of point mutations into the hnRNP A1-binding site or knockd

214 rate that large genomic deletions as well as point mutations involving PIH1D3 are responsible for an

215 x de novo genomic deletions and four de novo point mutations involving PSMD12, encoding the non-ATPas

216 We postulate that adaptive evolution through point mutations is a common feature of range-expanding m

217 ne and potentially have larger impact than a point mutation, it would confound phenotyping of the KI

218 sensitive and specific enough to detect 10% point mutation loading, and can discriminate between clo

219 ation of the electrostatic potential through point mutations, loop engineering and pH variation.

220 as9 based gene editing confirmed that PfMDR1 point mutations mediated ACT-451840 resistance.

221 Furthermore, CaMKIIalphaT286A point mutation mice showed significantly reduced EAE cli

222 ABEs introduce point mutations more efficiently and cleanly, and with l

223 Oncogenic activation of RAS genes via point mutations occurs in 20%-30% of human cancers.

224 ted 3'-5' exonuclease activity in vitro, and point mutation of a catalytic residue in this domain dis

225 C/EBPbeta abundance in 3T3-L1 adipocytes or point mutation of C/EBPbeta elements suppressed the incr

226 A heterozygous point mutation of histone H3 occurs in more than 80% of

227 Point mutation of p53 is a frequent event and a signific

228 A point mutation of VGLUT3 (VGLUT3-p.A211V) responsible fo

229 Single point mutations of key residues for FBP binding did not

230 Here we found that single point mutations of key residues in the AMP-binding site

231 e negative influence of Lyn was nullified by point mutations of Lyn catalytic domain or Src homology

232 Accordingly, point mutations of the BIN2-mediated CESA1 phosphorylati

233 Therefore, the point mutation on NFU1 impairs downstream cluster traffi

234 f the influence of disease-associated single-point mutations on the individual processes involved in

235 Identifying the effect of single amino acid point mutations on the thermodynamic equilibrium between

236 Traditionally, they differentiate point mutations only at elevated temperatures (>40 degre

237 order retinitis pigmentosa, and to introduce point mutations or exogenous DNA sequences.

238 beta-thalassemia results from point mutations or small deletions in the beta-globin (H

239 ate, mutation signatures, specific recurrent point mutations, or copy-number events in respect to che

240 equencing in MF5L12 identified an Actr2 gene point mutation (p.R258G) as the sole candidate.

241 ss-linking was reduced when NPC1 contained a point mutation (P691S) in its putative sterol-sensing do

242 ntical to natural TPRs for variants with 2-5 point mutations per repeat.

243 somatic copy number alterations (SCNAs) and point mutations (PMs).

244 erted (an order of magnitude higher than the point mutation rate).

245 We show that at low point mutation rate, insertions are significantly more b

246 ptase (TERT), which was associated with TERT point mutations, rearrangements, DNA amplifications and

247 ltiple underlying genetic drivers, including point mutations, recombination, and genomic deletion and

248 Influenza viruses gradually accumulate point mutations, reducing the effectiveness of prior imm

249 domain dimerization (due to the three "hole" point mutations), resulting in a unique storage- and pH-

250 r variants in 14% (n=54, 15% are novel), and point mutations revealed by multi-gene panel and exome s

251 w that DIM-2 can also mediate repeat-induced point mutation (RIP) of repetitive DNA in N. crassa.

252 Point mutations ruled out an orthosteric antagonist site

253 the noncoding regulatory region (NCCR) and 1 point mutation, S267L in the VP1 gene, suggestive of neu

254 es of CNV can facilitate the accumulation of point mutations separate from the expanded locus.

255 A single point mutation, Ser228Ile, in the human PCNA gene was re

256 tein stability reported to date: 700+ single-point mutations spanning 10 different protein targets.

257 that in one case a single alanine to glycine point mutation suffices to more than double the mechanic

258 A secondary point mutation (T790M) in the inhibitor binding site has

259 It is the principal point mutation that arises from treatment of HIV-infecte

260 SMN2 harbours a silent point mutation that favours the production of transcript

261 Conducted in the background of a point mutation that isolated the response to membrane ab

262 r protein disaggregation, it is sensitive to point mutations that abolish the function of the bacteri

263 s ability to generate clusters of concurrent point mutations that all occur in a single generation.

264 We identify point mutations that disrupt dimerization and Skp1 bindi

265 and structure-function analysis, we identify point mutations that disrupt membrane binding and preven

266 Point mutations that disrupt the Loop1-Loop7 interaction

267 deletion of the entire mce4 operon or single point mutations that eliminate the transport function ca

268 ing mice with juxtamembrane or kinase domain point mutations that increase PDGFRalpha activity (V561D

269 We identify 55 point mutations that reduce virus yield to below detecta

270 two filament states, we successfully predict point mutations that shift the equilibrium between those

271 We went on to engineer point mutations that stimulated IgG hexamer formation an

272 We show by a set of reciprocal point mutations that this change accounts for up to 2/3

273 the functional effects of nine rare-variant point mutations that were detected in large-scale human

274 m similar picornaviral polymerases to design point mutations that would alter replication fidelity.

275 3D coordinates of the protein atoms), and a point mutation, the server calculates the stability diff

276 Point mutations then identified a single residue, alpha2

277 yses of human cancers have cataloged somatic point mutations thought to initiate tumor development an

278 Point mutations to beta-lactamase enzymes can greatly al

279 main in TOR function, we identified a single point mutation (Tor2(W2041R) ) in the FRB domain of Tor2

280 ine equivalent of the human UMOD p.Cys148Trp point mutation (UmodC147W/+ mice).

281 Consistently, Kabuki causative point mutations upstream of the JmjC domain do not disru

282 sing a nonphosphorylatable Cav-1 (Y14F/Y14F) point-mutation variant.

283 By gene targeting, we introduced a point mutation (W1206R) into murine FH that impaired its

284 A point mutation, W133A, abrogated THPP-binding and increa

285 of E. coli Trx-1 in combination with a T200M point mutation, we transformed DsbG into an enzyme highl

286 Using domain deletions and point mutations, we found that BAG3 uses both of its IPV

287 Individual point mutations were detected in both VP1 and large T an

288 Overall, 193 unique somatic point mutations were identified.

289 To better understand the role of K265, point mutations were introduced within the Dd myosin-2 M

290 The identified point mutations were mostly recessive (n=117, 81%), cons

291 vel FP deficiency (E244K) caused by a single point mutation which results in a very low level of AP a

292 n no longer evolve to overcome CRISPR-Cas by point mutation, which results in rapid virus extinction.

293 ligands, and show that one, or at most, two, point mutations with natural amino acids are all that is

294 nce impact to enable the detection of single point mutations with the highest chance to be responsibl

295 (91) had a 35 nucleotide (nt) deletion and a point mutation within the L-segment intergenic region (I

296 madC mutant strains contain loss-of-function point mutations within a gene predicted to encode a GTPa

297 Single, double, and triple point mutations within this stretch of rFII allowed for

298 bility to uniformly saturate the genome with point mutations without chromosome or nucleotide sequenc

299 to predict changes in protein stability from point mutations without parameterization or system-speci

300 labi-Ito-Hall (GIH) syndrome, where a single point mutation (Y65C) correlates with the development of