ライフサイエンスコーパス: point mutation

1 rted to efficient phosphorylases by a single point mutation.

2 R signaling after acquiring R110 as a single-point mutation.

3 ed deletions in exon 1 and 5, and the W90Xfs point mutation.

4 model containing a c.1054C > T (p.Gln352Ter) point mutation.

5 ucture-based prediction of DeltaDeltaGs upon point mutation.

6 ency, while Cas9 yielded small deletions and point mutations.

7 hese two somatic classes and germline single point mutations.

8 r NTRK3; among these, we identified 9 unique point mutations.

9 occurs via accumulation of CNVs, rather than point mutations.

10 f cysteine and acquired drug resistance from point mutations.

11 n the PTC-ring, A-loop and P-loop, 180 total point mutations.

12 ormation can ensue in the absence of somatic point mutations.

13 innovation are scarce and generally involve point mutations.

14 nd humans rely solely on untemplated somatic point mutations.

15 ible hydrophobic or polar single- and double-point mutations.

16 oducing different building blocks defined as point mutations.

17 ion of a second stop codon preceding the A4G point mutation (2stop+A4G) restored G protein expression

18 A point mutation (A119W) in the catalytic domain or trunca

19 A point mutation abolishes OlyA's ability to discriminate

20 Thus, a point mutation allows neurotrophic and pronociceptive fu

21 eotide excision repair prevents up to 99% of point mutations, almost uniformly across the mutation sp

22 The cls2 point mutations also allowed S. aureus to evade neutroph

23 We found that point mutations alter delicate conformational equilibria

24 include a wide range of aberrations such as point mutations, amplifications, fusions and hypermutato

25 also test a variant of LbCas12a with a D156R point mutation and show that it has substantially higher

26 ene only in the presence of a cancer-causing point mutation and suppresses cancer cells exclusively w

27 DENDRO utilizes transcribed point mutations and accounts for technical noise and exp

28 rase (POLG) generates high levels of somatic point mutations and also small indels, but surprisingly

29 nslocations, gene amplification or deletion, point mutations and alteration of expression, as well as

30 %) probands carrying 55 different pathogenic point mutations and CNVs in 13 genes/loci responsible fo

31 Resistance level provided by point mutations and gene amplification is very low and a

32 isms to synthetic insecticides often include point mutations and increased expression of genes encodi

33 high-level AMP resistance were the result of point mutations and IS1655 element movement in the pilMN

34 Here we present analyses of driver point mutations and structural variants in non-coding re

35 We show that although point mutations and structural variants that drive cance

36 he overall spectrum of deleterious variants (point mutations and structural variants) responsible for

37 Driver mutations, such as point mutations and structural variants, affected 1-5% o

38 Most PLP1 mutations, including point mutations and supernumerary copy variants, lead to

39 hickens, sheep, and rabbits use nontemplated point mutations and templated mutations via gene convers

40 e modeling was used to screen >20,000 single point mutations, and four potentially stabilizing mutati

41 Point mutations are a common form of genetic variation a

42 As additional point mutations are necessary for further expansions, ep

43 ons on the genetic optimization of ArMs: (i) point mutations are reflected in all four subunits of Sa

44 sed after chromosomal translocations or from point mutations, are intracellular and are not enzymes p

45 rd the heterologous pheromone with only five point mutations, as well as other ComR variants featurin

46 We aimed to establish whether an inexpensive point mutation assay can improve virological suppression

47 Point mutation assays targeting priority drug resistance

48 Point mutation assessment and Sanger sequencing were per

49 e largely been limited to analysing a single point mutation at a time.

50 uman superoxide dismutase glycine to alanine point mutation at amino acid 93 (hSOD1(G93A)) mouse mode

51 Consistent with this, a point mutation at position I17 severely compromises bind

52 T elevation by AR through integrated HBV and point mutation at the TERT promoter region was identifie

53 Point mutations at a site conserved in each LIM domain o

54 Point mutations at each position reduced the infectivity

55 that phospho-mimetic and nonphosphorylatable point mutations at known phosphosites in the reporter in

56 the utrophin actin-binding domain by making point mutations at the CH1-CH2 interface, replacing the

57 Single point mutations at the phosphorylation sites and truncat

58 tivity and specificity of an assay for a DNA point mutation based on single-molecule recognition thro

59 on between recurrent and rare somatic single point mutations based solely on using cancer data, and t

60 CD) is a genetic disorder caused by a single point mutation (beta6 Glu -> Val) on the beta-chain of a

61 Tumors have a low point mutation burden and high numbers of structural var

62 ple, ABE7.10) enable programmable A*T to G*C point mutations but editing efficiencies can be low at c

63 Here we report a rapid method to identify point mutations by a single nanoparticle sensing system.

64 The somatic missense point mutation c.402C>G (p.C134W) in the FOXL2 transcrip

65 urthermore, as a proof-of-principle study, a point mutation can be efficiently corrected by our metho

66 We provide insights into why this point mutation can convert the MastR chloride pump into

67 mutagenesis and conventional exploration of point mutations can synergize to generate antibodies wit

68 Additionally, NLRP3 gain-of-function point mutations cause systemic periodic fever syndromes

69 To verify that the point mutation caused a splicing defect, we tested wild-

70 This point mutation caused a substitution of amino acid in th

71 erase slippage at repeated DNA sequences and point mutations caused by error-prone DNA synthesis at D

72 Genetic testing demonstrated the variant 2 point mutation (chromosome 6: 99593111) in the deoxyribo

73 ting using CRISPR/Cas9 was used to introduce point mutations conferring amino acid changes in a serin

74 n with GAS RmlB and RmlC containing specific point mutations corroborated the conservation of previou

75 gmental duplication, gene amplification, and point mutations coupled to gene neo- and subfunctionaliz

76 We construct phenotypic profiles for point mutations crossed against gene deletions or expose

77 We describe a TMC1 point mutation, D569N, that reduces the resting open pro

78 allenging to represent and study relative to point mutations despite their demonstrated importance.

79 rabidopsis UPP, generated by introduction of point mutations, did complement the upp chloroplast phen

80 A T258F point mutation disrupts this biphasic mechanism, thus il

81 ocal mutational signatures, with clusters of point mutations due to kataegis in close proximity to th

82 Conventional methods for analyzing point mutations, e.g., polymerase chain reaction (PCR),

83 These same point mutations eliminate the formation of puncta in cel

84 hways in specific craniofacial contexts, but point mutations, even when combined, failed to recapitul

85 The results explain how point mutations expand the activity spectrum of the clin

86 nd-play capability to discriminate different point mutations for both DNA (seven G6PD mutations) and

87 behaviors are found to arise from different point mutations found at the same amino acid position an

88 in HeLa cells that stably express TTC7A with point mutations found in patients.

89 the statistical burden of variations (i.e., point mutations) from all genes on 40 3D protein feature

90 We find that driver point mutations, gene fusions, and arm-level copy losses

91 nsus ranking of protein affinity to identify point mutations has not been established.

92 model containing a disease-causing nonsense point mutation, here we describe a first-of-its-kind Cln

93 nction in human neurulation is revealed by a point mutation identified in an NTD-affected individual

94 Domain-swap experiments and point mutations identified the Nck1 SH2 domain and the f

95 Exploring a human point mutation, identified in patients with neurological

96 sability disorders, and patient-derived SRPK point mutations impair RNF12 phosphorylation.

97 These designs include a point mutation in a key conserved antigenic site to stab

98 e loss-of-function with one gain-of-function point mutation in a series of possible combinations.

99 We also show that the D101G deafness point mutation in cadherin 23, which affects a Ca(2+) co

100 We have identified a point mutation in Col4a4 in mice where disease is modifi

101 A point mutation in DGS1, dgs1-1, altered the stability an

102 ound heterozygotes for a previously reported point mutation in exon 9.

103 Genomic sequencing revealed a G->A point mutation in intron 6, upstream of the exon 7 accep

104 /Cas9-mediated editing to engineer in vivo a point mutation in murine Nkx3.1 to code for a serine to

105 Ten patients contained a point mutation in NTRK2 or NTRK3; among these, we identi

106 A point mutation in PsbO-A1 or reduction in its transcript

107 Moreover, a single point mutation in Swd2 that affects its interaction with

108 f two tandem stop codons preceding an A-to-G point mutation in the 4th position of the G gene end tra

109 The A4G component is a prevalent point mutation in the 4th position of the gene end trans

110 3aQ68*); (ii) Ccalpha6(3aAG>AT) containing a point mutation in the 5' splicing site of exon 3a (3aAG

111 Interestingly, a point mutation in the ADAM17 JMD identified in a patient

112 r (ASD) Timothy syndrome (TS) is caused by a point mutation in the alternatively spliced exon 8A of t

113 can be O-fucosylated by SPY in planta, while point mutation in the catalytic domain of SPY abolishes

114 response using a mouse model that harbors a point mutation in the class Ib MHC molecule Qa-1, which

115 e, which develop progressive TMJ-OA due to a point mutation in the Col11a1 gene, were subjected to in

116 A single point mutation in the dimerization interface of the ULD

117 A point mutation in the gene encoding Cav1.2 (CACNA1C) cau

118 d dysfunction that originates from a de novo point mutation in the gene encoding the Cav1.2 (CACNA1C)

119 t pinpointed effects of a single deletion or point mutation in the GID complex on the global proteome

120 inson-Gilford progeria syndrome, caused by a point mutation in the LMNA gene, stands out as a potenti

121 ually, the amplifications were replaced by a point mutation in the parEC promoter region which result

122 Even a point mutation in the psaA gene mediates chlorophyll def

123 In this study, we described a recessive point mutation in the versican 3'UTR resulting in reduce

124 6, we used Beethoven mice(5), which harbor a point mutation in Tmc1, a gene required for hearing that

125 Introducing a single-point mutation in TYMV PRO/DUB aimed at improving ubiqui

126 The genetic change is a point mutation in which another H2AX amino acid residue

127 calis strains lacking, or harboring a single point mutation in, OG1RF_12399-12402 are unable to grow

128 genome sequencing, which revealed prevalent point mutations in a transcriptional activator (Aro80) t

129 o psoriatic arthritis, while mice expressing point mutations in A20's OTU or ZF4 motifs did not exhib

130 Point mutations in an internal domain of Cbx2 eliminate

131 ed changes in binding affinity upon multiple point mutations in antibody-target complexes (89 increas

132 The point mutations in ASH1L cause defects in its enzymatic

133 d m.3460 mutations were the most common LHON point mutations in both males and females, with a simila

134 s to analyze the presence and type of single point mutations in BRCA1 from samples of human breast an

135 has been inactivated twice independently by point mutations in C. rubella, causing a loss of enzymat

136 umour sequencing identifies highly recurrent point mutations in cancer driver genes, but rare functio

137 sa3(ixr1-2) (c1,c3), which carries nonlethal point mutations in CELLULOSE SYNTHASE A 1 (CESA1) and CE

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

139 hole-exome copy number variations (CNVs) and point mutations in coding regions.

140 Point mutations in cysteine string protein-alpha (CSPalp

141 ive mutants reveals that 23.3% of all single point mutations in DHFR are advantageous in the absence

142 Point mutations in either the linker or the C-terminal a

143 gions, and methylation motifs revealed small point mutations in genes mainly encoding hypothetical an

144 We use RDN to install disease-associated point mutations in HEK293T cells with comparable or bett

145 ons (NCRs) of India revealed several natural point mutations in HIV seropositive/negative individuals

146 lished a strategy to identify cancer-related point mutations in hPSCs, detecting recurrent mutations

147 higher chance of presence of traits, such as point mutations in key receptor tyrosine kinases, that d

148 strated that deletions (leaderless [LLV]) or point mutations in Lpro result in increased expression o

149 er alterations (SCNAs), DNA methylation, and point mutations in lung cancer driver genes in 292 tumor

150 cardiomyopathies (CMs), are associated with point mutations in metavinculin, a larger isoform of the

151 es a gene editing tool capable of installing point mutations in mtDNA, and it does not involve CRISPR

152 mutants of T3D/T1L L3S2 and identified three point mutations in mu1 that stabilize ISVPs.

153 species, is the most common cause of driver point mutations in neuroblastoma, including most ALK and

154 ient cells, we identified two non-synonymous point mutations in NS4A and NS4B, which rescued viral re

155 ynonymous mutations in p12, and 2 others had point mutations in p9 and p5.

156 et-codon codes that should ensure all single point mutations in protein-coding sequences are selected

157 e demonstrated by specific amino acid single-point mutations in Sec61alpha provides compelling eviden

158 protein thermostability changes upon single point mutations in silico is a challenge that has implic

159 abling the detection of single KRAS and BRAF point mutations in small populations of RKO and MCF-7 FF

160 ate preceding leaflet merger using arresting point mutations in SNARE proteins, but the nature of the

161 ers and identify novel candidates, including point mutations in the 5' region of TP53, in the 3' untr

162 TMIE point mutations in the C terminus that are linked to dea

163 LANA with point mutations in the carboxyl-terminal domain identifi

164 range expansion could be conferred by single point mutations in the coat protein.

165 e and significantly recurrent somatic single point mutations in the human cancer genome.

166 icient, programmable reversion of T*A to C*G point mutations in the human genome.

167 We have shown previously that single point mutations in the human MDM2 RING finger domain pre

168 Saccharomyces cerevisiae to introduce single point mutations in the hydrophilic pathways of CcO to te

169 Point mutations in the immunogen V2 HS to match the V2 H

170 (m)Mg(2+) entry is facilitated by Mrs2, and point mutations in the intermembrane space loop limits (

171 generated a novel mouse model with specific point mutations in the miR-33 binding sites of the Abca1

172 However, point mutations in the NCoR and SMRT deacetylase-activat

173 PQ has been associated with distinct sets of point mutations in the P. falciparum CQ-resistance trans

174 membrane phospholipid composition induced by point mutations in the phospholipid biosynthesis gene, c

175 ted patients with early disease onset due to point mutations in the PLP1 gene, and absence of myelin

176 Point mutations in the rhlI 5'UTR or P27, which abolish

177 Indeed, different point mutations in the same gene (PCYT1; CCTalpha) resul

178 the cascade has allowed for the detection of point mutations in the sequences of the MTC rpoB, katG,

179 Point mutations in the two nucleotide-binding domains of

180 bacteria via NDP52, as revealed by selective point mutations in their respective binding sites, but o

181 ted E. faecalis strains containing deletions/point mutations in this PTS and measured bacterial growt

182 sidues in the N-terminal region of MAD1, and point mutations in this sequence abolish MAD1 corona loc

183 nd mutation accumulation lines, we find that point mutations in topA increase the rate of sequence de

184 and simultaneous identification of multiple point mutations in tumor cells.

185 Here, we identify single point mutations in two key elements of the Arabidopsis c

186 ient selection, including that truncation or point mutations in well-defined functional domains sensi

187 e modal gating behaviour can be triggered by point-mutations in the hydrogen bonding network that con

188 ive pluripotent stem cells reported multiple point "mutations" in cancer-related genes and implicated

189 esulting suite of plant prime editors enable point mutations, insertions and deletions in rice and wh

190 ully virulent Y. pestis Introducing a single point mutation into the active site of Pla suffices to r

191 tRNA(Glu) expression levels and introduced a point mutation into the plastid trnE gene, which has bee

192 itate the efficient introduction of targeted point mutations into multiple tissues of therapeutic int

193 nable the efficient introduction of targeted point mutations into the genomes of both Agrobacterium t

194 iae by measuring the effects of thousands of point mutations introduced randomly throughout the genom

195 ent gain and loss of RNA editing through DNA point mutation is significantly more prevalent than that

196 A disease-causing point mutation (K255E) of the actin cross-linker alpha-a

197 to a single conformation through a designed point mutation leads to a global quenching of core dynam

198 relationship between repeat instability and point mutation load within and across patients independe

199 Notably, all but one of the known pathogenic point mutations map to XPGcat, and both XP-G and XP-G/CS

200 BCR-ABL1 point mutation-mediated resistance to tyrosine kinase in

201 c variants, such as copy number variants and point mutations, might also play a role.

202 have isolated clones with increased rates of point mutation, mitotic recombination, and chromosome lo

203 ress Plp1 expression in the jimpy (Plp1(jp)) point-mutation mouse model of severe PMD, increased myel

204 ft" (swst, MGI:3611216) with a nonsynonymous point mutation (N68S) in Fah that caused age-dependent d

205 Point mutation of a pair of residues (E575/H578) in the

206 We previously demonstrated that a point mutation of CD16a prevents this activation-induced

207 Point mutation of conserved active sites in the C and T

208 Male and female transgenic mice expressing a point mutation of mGlu5 that cannot be phosphorylated by

209 The single point mutation of N87K in FliC, one of the filament subu

210 an extracellular C-terminal domain in which point mutation of residues that are conserved in staphyl

211 These findings indicate that point mutation of Rho-GAP genes is unexpectedly frequent

212 ein it is reported for the first time that a point mutation of TMEM67 leads to a gene dose-dependent

213 Point mutation of Top1-N722S fails to trap compound 28-i

214 Here, we introduced single point mutations of Lys-428 in the CTE of Rca-alpha from

215 Heterozygous loss-of-function point mutations of miRNA genes are associated with sever

216 embrane affinity analysis, focused on single-point mutations of PhCCD1 to improve membrane anchoring.

217 Attenuation of FTY720-SET association by point mutations of residues that are involved in FTY720

218 ated by elimination of resonances via single-point mutations of selected phenylalanines to tyrosines.

219 luation of patient information revealed that point mutations of several of the modification sites are

220 strong prognostic relevance to patients with point mutations of the FLT3 tyrosine kinase domain (TKD)

221 ediate the binding of LST-1 to FBF, and that point mutations of these motifs abrogate LST-1 self-rene

222 facilitated the discovery of a novel somatic point mutation on a germline insertion in PDE1A, a phosp

223 c mouse expressing the A30P SNCA familial PD point mutation on an Snca-/- background.

224 hat contains the mutation 3aQ68* and another point mutation on exon 10 (K352*).

225 Furthermore, a point mutation on synaptotagmin, located outside of the

226 accurately analyse the consequence of multi-point mutations on antigen binding affinity.

227 We have reported that single point mutations on human DAT (hDAT) at tyrosine88 (Y88F)

228 been applied to predict the effect of single point mutations on protein stability for over 40 years a

229 Point mutations on this domain specifically alter bindin

230 Loss of Lys43 methylation by point mutation or domain deletion impairs AML1-ETO-repre

231 onstrate that perturbations of wheat PsbO by point mutation or phosphorylation by WKS1 reduce the rat

232 ly in patients whose tumors harbored FGFR1-3 point mutations or fusions.

233 CH due to point mutations or structural variants such as copy-numb

234 EC-based base editors in inducing unintended point mutations outside of likely in silico-predicted CR

235 on, H2O2-treated cells had elevated rates of point mutations (particularly A to T/T to A and C to G/G

236 and adenine base editors (ABEs) can correct point mutations predictably and independent of Cas9-indu

237 Combining the three activating point mutations produced a constitutively activated enzy

238 rom the patient protein harboring the single point mutation R49G can be both heterologously seeded us

239 We find the point mutation rate per generation to differ by 3.6-fold

240 tlas to distinguish the potential of various point mutations recognized by MutS protein.

241 A point mutation removing the PHO1 uORF (DeltauORF) in tra

242 The point mutation responsible for sickle cell anaemia codes

243 ked to large-scale structural variants and a point mutation signature associated with oxidative stres

244 d compared the prognostic ability of somatic point mutation (SPM) and copy number variation (CNV) dat

245 In mice, we perturbed fast inhibition with a point mutation T272Y (T6'Y in the second membrane-spanni

246 (Ryr1TM/Indel) possesses a patient-relevant point mutation (T4706M) engineered into 1 allele and a 1

247 able to identify the androgen receptor (AR) point mutation T878A from 7.5 mL blood samples spiked wi

248 demonstrate that, in addition to untemplated point mutations, templated mutagenesis readily occurs at

249 mportantly, the subset 2 LC carries a single-point mutation, termed R110, at the junction between the

250 human WT HVEM or human or mouse HVEM with a point mutation that ablates its ability to bind to gD.

251 roduces ~10% SMN protein because of a single-point mutation that causes splicing defects.

252 e of rapid host shifting, typically due to a point mutation that confers expanded host range.

253 he wild-type and mutant strains identified a point mutation that creates a premature stop codon in th

254 here, using a gene-editing approach, that a point mutation that eliminates the endonuclease activity

255 opulation: (i) Ccalpha6(3aQ68*) containing a point mutation that generates a premature stop codon on

256 or prospective design and discovered a novel point mutation that improves binding of c-Raf-RBD to KRa

257 ed evolutionary adaptation revealed a single point mutation that modulates expression of gene H, a kn

258 gene (which codes for CD11b) to introduce a point mutation that results in the I332G substitution in

259 The point mutation that substitutes lysine with arginine at

260 ngineering a recombinant virus with an S368R point mutation that was unable to be fully neutralized b

261 In total, we identified 13 point mutations that affect key protein regions, includi

262 Point mutations that alter the DEL-7 channel change NSM

263 flexibility of NHERF1 by disease-associated point mutations that alter the dynamic assembly of signa

264 Here, using recombinant viruses with point mutations that alter the pH stability of pH1N1 HA,

265 Specific point mutations that decrease drug binding affinity can

266 ndlin-2 and kindlin-3, we identify kindlin-3 point mutations that decrease self-association and enhan

267 By contrast, point mutations that decrease TBK1 kinase activity in al

268 k-in Fgfr1 and Fgfr2 mouse strains, carrying point mutations that disrupt binding of signaling effect

269 equencing identified several nonconservative point mutations that emerged in the population and were

270 Point mutations that enlarge the space for the third nuc

271 ntly enable the identification of two single-point mutations that increase the affinity of AB1 for mu

272 lyzed experimental data on 183 unique single point mutations that lead to change in aggregation rates

273 We generated mice with point mutations that prevent Gbetagamma binding to p110g

274 We identified individual point mutations that: 1) mimicked allosteric inhibition

275 We identified individual point mutations that: 1) prevented hLPYK from binding al

276 editors are widely used to install targeted point mutations, the factors that determine base editing

277 method of improving selectivity for desired point mutations through careful probe design.

278 s up to a million-fold higher than bacterial point mutations through the process of slipped strand mi

279 Mice carrying an identical point mutation to that observed in affected patients (Fo

280 lectively disrupted through structure-guided point mutations to shift single-molecule Forster resonan

281 enetic alterations, which range in size from point mutations to whole-chromosome gains and losses, kn

282 between different somatic aberrations, from point mutations to whole-genome duplications, in tumour

283 utable to an incomplete understanding of how point mutations trigger pathogenic remodeling.

284 Introduction of this point mutation using CRISPr-Cas9 allelic replacement was

285 InDel mutagenesis and combination with known point mutations validates this approach, and suggests th

286 A point mutation was identified by MutMap in the encoding

287 tion of allelic polymorphism, accumulated by point mutations, was further confirmed by the emergence

288 For point mutations, we developed a statistically rigorous s

289 By introducing point mutations, we identify key residues for potassium

290 111) mice heterozygous for DARPP-32 Thr75Ala point mutation were resistant to depressive-like behavio

291 docking of a nuclear localisation sequence, point mutations were designed, which suppress influenza

292 Recurrent point mutations were enriched in regulator genes linking

293 Single cls2 point mutations were sufficient for daptomycin resistanc

294 Here we generated mice bearing point mutations, which block Rap1 binding without affect

295 We expect the correction of single point mutations will be a major focus of future precisio

296 of sgRNA-encoding vectors, we could install point mutations with high efficiency in one or multiple

297 This method allows us to score the impact of point mutations within the motor domain.

298 gy-directed repair, base editing can correct point mutations without supplying a DNA-repair template.

299 c detection of circulating tumor DNA (ctDNA) point mutations without the need for amplification or fl

300 d insertions, deletions, and all 12 types of point mutation, without requiring double-strand breaks o

301 ype and TrkB(Shc/Shc) mutant mice in which a point mutation (Y515F) of TrkB prevents the binding of S