ライフサイエンスコーパス: mutational

1 mycin dose dependently inhibited A3G and A3B mutational activity on HBV viral DNA.

2 roES-GroEL interaction due to the seven-fold mutational amplification in heptameric GroES.

3 s-linking coupled with mass spectrometry and mutational analyses identified a new interaction between

4 Mutational analyses identified distinct crucial binding

5 e the roles of active-site residues by using mutational analyses in a peptide synthesis assay with in

6 Mutational analyses indicated that the transmembrane dom

7 Mutational analyses of CTCL patient peripheral blood mal

8 Here, using mutational analyses of hepatitis B virus (HBV), we found

9 Site-specific mutational analyses of the conserved residues within WRD

10 Taken together, our structural and mutational analyses of the Hda-beta clamp complex indica

11 Mutational analyses of the positionally conserved sORF o

12 Importantly, mutational analyses revealed extensive auto-inhibitory m

13 Subsequent mutational analyses revealed that HvgA and capsule, but

14 Mutational analyses revealed that MC159 and cIAP1 each b

15 Mutational analyses show that the GluN2A preference of S

16 Molecular dynamics and mutational analyses showed that alphaKG binds TDG on Arg

17 Mutational analyses showed that both Valpha/Vbeta interf

18 ment usage and different docking mechanisms, mutational analyses showed that the TCRs shared a conser

19 Mutational analyses suggest that Vpr interacts with DNA-

20 assays, high-resolution crystallography, and mutational analyses to characterize the interaction betw

21 Through a series of mutational analyses, in combination with biochemical and

22 studies, cryo-electron microscopy (cryo-EM), mutational analyses, peptide binding analysis, linker-sc

23 Using structural and mutational analyses, we identified key residues involved

24 tion of its substrate MepS by structural and mutational analyses.

25 cleotide-conversion strategy for large-scale mutational analysis (RESA-bisulfite).

26 Comprehensive alanine mutational analysis across 553 residues of E1E2 also res

27 structure with functional and immunological mutational analysis across E1E2 in order to propose an i

28 Thus, random mutagenesis and mutational analysis allows for the achievement of high s

29 Mutational analysis and enzymatic activity assays identi

30 his is the first comprehensive TSC1 and TSC2 mutational analysis carried out in TSC patients in Greec

31 Kinetic and mutational analysis confirmed several features seen in t

32 Finally, structure-guided mutational analysis confirms the importance of RNA bindi

33 Mutational analysis coupled with molecular docking and m

34 Mutational analysis definitively demonstrates that TbPRM

35 Mutational analysis demonstrates that the Wap super-enha

36 Here, we have performed mutational analysis followed by a genotype-phenotype cor

37 of signal intensity in the 2:1 complex, and mutational analysis implicated the distal surface away f

38 negatively charged alpha-Fe2O3 surface, and mutational analysis indicates that electrostatic interac

39 cancer metastatic process, we performed deep mutational analysis of 676 genes in 107 stages II to IV

40 Mutational analysis of a cyclin F-specific amino acid mo

41 Here we report comprehensive mutational analysis of the ACKR3 interaction with its ch

42 Extensive mutational analysis of the DBP7 promoter revealed a comp

43 Mutational analysis of this region identified four disti

44 Mutational analysis revealed that Thr-1007 dephosphoryla

45 Computational modeling and cellular mutational analysis revealed the hydrophobic face of two

46 demonstrate the presence of oligomers; (ii) mutational analysis reveals a trans-arginine finger, R15

47 Mutational analysis showed that induction of hyphae in a

48 Mutational analysis showed that these differences result

49 Furthermore, mutational analysis shows p21 repression requires intera

50 Mutational analysis shows that key residues important fo

51 Mutational analysis suggested that Cys(609) in GC1 is in

52 Mutational analysis suggested that differences in the N-

53 B complexes bound up to two LIS1 dimers, and mutational analysis suggested that LIS1 binds directly t

54 Broadly, our mutational analysis suggests that there are key genes an

55 ription start site, and demonstrated through mutational analysis that this sequence is crucial for C/

56 Here we used confocal microscopy and mutational analysis to identify the residues within the

57 Through mutational analysis, we identified two glutamine residue

58 Using mutational analysis, we show that domains of Vpr involve

59 Through mutational analysis, we validated the RPN2-binding inter

60 ormed next generation sequencing studies for mutational and copy number analysis.

61 redicted functional changes are supported by mutational and copy number profiles in breast cancers.

62 (yeast 14-3-3 isoform), which, together with mutational and fluorescence studies, indicate that the b

63 ur knowledge, new observations against known mutational and functional studies.

64 In addition, this study extends the mutational and immunophenotypical spectrum of Wiedemann-

65 Mutational and modeling analyses indicated that an evolu

66 In this study, we define the mutational and phenotypic spectrum of SPG5, examine the

67 Mutational and plasmid-mediated mechanisms of colistin r

68 Our comprehensive mutational and screening approach should stand as a para

69 m and ensures high robustness of the code to mutational and translational errors.

70 Structural, mutational, and biochemical analyses confirmed the enzym

71 report combined bioinformatic, biochemical, mutational, and X-ray crystallographic studies on the un

72 In addition, mutagen or cancer-specific mutational background models are applied to calculate ex

73 eath in pancreatic cancer cells with diverse mutational backgrounds.

74 t in P. falciparum is driven by a systematic mutational bias and ultimately leads to an unusual level

75 support a purifying selection model above a mutational bias explanation.

76 ure of selection is much weaker than that of mutational biases in mutator genomes.

77 Here, we conducted comprehensive mutational, biochemical, and biophysical analyses to gai

78 stability (7.6% [13 of 170]), and high tumor mutational burden (9.5% [30 of 317]) were all enriched i

79 nce to cancer immunotherapy, including tumor mutational burden (e.g., microsatellite instability), co

80 tified in two malignant melanomas with a low mutational burden (number of mutation per megabase, 0.8

81 c cancers are generally characterized by low mutational burden and few recurrently mutated genes.

82 ertant mosaicism; and provided evidence of a mutational burden in mixed PIDD immunophenotypes.

83 between TADs and epigenetic marks, as tumor mutational burden is known to be coupled to chromatin st

84 Mutational burden of both genes correlated with X-inacti

85 deleterious alleles by 26%, and shifted the mutational burden toward common variants; (ii) deleterio

86 en tumor differentiation and overall somatic mutational burden, which also likely explains the highly

87 er types and amplified tumors have increased mutational burden.

88 aptation step of avian H9N2 strains; further mutational changes may be required to become virulent fo

89 Studying the mutational changes that occur during affinity maturation

90 While mutational changes to other residues in the undecapeptid

91 fending intestinal mucosal integrity against mutational, chemical, and inflammatory injury.

92 nce suggests indels are a highly immunogenic mutational class, which can trigger an increased abundan

93 efit resulted from a combination of avoiding mutational cohorts leading to local peaks and chance.

94 Structure-guided biochemical, mutational, computational, and binding studies elucidate

95 Here we report mutational, computational, and structural findings direc

96 conserved across species and is under strict mutational constraint.

97 Unbiased clustering, based on mutational context, revealed clinically relevant subgrou

98 methylation classes associated with typical mutational, cytogenetic, and gene expression patterns.

99 ral observations help to explain preexisting mutational data and provide insights into several other

100 a particular focus on the emerging role for mutational data in clinical management as a potential to

101 onary analysis, combined with structural and mutational data, argue that Ras has co-evolved with its

102 cusing on the neuroendocrine prostate cancer mutational data, we found prevalent amplification of neu

103 ntified based on structural, functional, and mutational data.

104 The rate of mutational decay of male competitive fitness is 0.17%/

105 The point estimate of 1.5X faster rate of mutational decay of male fitness is nearly identical to

106 lty, but redundant gene copies would undergo mutational decay unless preserved via selective or neutr

107 chloroplasts and was able to complement the mutational defect.

108 These results highlight mutational differences between serous and non-serous ova

109 rates, especially when the five cancers with mutational disparities are exclusively focused (r = 0.88

110 Mutational dissection and additional protease specificit

111 rging evidence implicates a key role for non-mutational drug resistance mechanisms underlying the sur

112 We found that the distributions of mutational effects differed among environments because m

113 en reading frames on gene expression and the mutational effects influencing translation initiation ef

114 We ask how the distribution of mutational effects of a transcriptional regulatory syste

115 , little is known about the distributions of mutational effects of molecular systems as a whole.

116 ng the regulators shifts the distribution of mutational effects to be largely neutral, and reveals ho

117 However, allosteric communication of mutational effects to distant functional sites leading t

118 sm of DFPase as well as temperature, pH, and mutational effects, demonstrating that DFPase and PON1 a

119 s, we assessed a total of 2,250 patients for mutational enrichment patterns.

120 ance of freely-segregating genomes mitigates mutational erosion, while paternal leakage exacerbates t

121 Mutational escape of HIV-1 from HIV-1-specific CD8(+) T

122 owed that all cases originated from a single mutational event, and the age of the mutation was estima

123 The majority of these mutational events fall into two broad categories: inacti

124 Novel recurrent mutational events in AML were identified in the SMARCA2

125 st example of co-occurring, growth-promoting mutational events in ovarian cancer.

126 In contrast to FT2b and FT2d whose mutational events occurred before the separation of G. m

127 malignancy patients have significantly more mutational events than patients with wild-type TET2.

128 k analyses of 54 biomarkers, including major mutational events, microsatellite instability (MSI), epi

129 Additional mutational experiments disclosed that neither truncation

130 s a base excision repair protein, revealed a mutational footprint (signature 30) previously observed

131 nd subsequent error-prone repair have left a mutational footprint on the insertion environment of mob

132 with genetically supported ancestry, overall mutational frequencies and copy number changes were not

133 Differences in mutational frequencies could illuminate differences in p

134 ind that TP53, EP300, and NFE2L2 show higher mutational frequencies in Asian patients.

135 Overall, we find that a rich model of mutational heterogeneity facilitates non-coding driver i

136 satility of a hiPSC-based panel spanning the mutational heterogeneity within a single disease and est

137 cuitry mechanism established by intratumoral mutational heterogeneity.

138 By determining the mutational history of individual cells, we uncover a nov

139 osition can be deduced by reconstructing its mutational history.

140 pose is based on the thesis that a series of mutational hits (1st Hit) at the stem-cell level generat

141 A series of additional mutational hits (2nd Hit) transforms the expanding clone

142 ngs are consistent with a germline recurrent mutational hotspot associated with an allele-specific ne

143 in the inverted formin 2 gene (INF2) in the mutational hotspot for FSGS.

144 -receptor positive breast cancer, harbours a mutational hotspot in its promoter leading to overexpres

145 ations (P8R, P22S, N98S and E396K) and three mutational hotspots accounting for 37 (55%) and 50 (75%)

146 g adenocarcinomas revealed noncoding somatic mutational hotspots near VMP1/MIR21 and indel hotspots i

147 alanine-scan mutagenesis of FoxP3, assessing mutational impacts on DNA binding and transcriptional ac

148 RECQ5 depletion or mutational inactivation of its ATP-binding site, RAD51-i

149 f SAMHD1 activity-through genetic depletion, mutational inactivation of its triphosphohydrolase activ

150 Mutational inactivation of the NF2 gene encoding the pro

151 ith this, using SNV variation as a proxy for mutational input, we report here that mutational spectra

152 ndent assays with standard controls validate mutational interaction profiles with high quality.

153 Based on mutational, kinetic and modeling analyses, a catalytic m

154 anding the molecular factors that define the mutational landscape accessible to these pathogens.

155 The resulting mutational landscape demonstrates that large portions of

156 The analysis of the mutational landscape of cancer, including mutual exclusi

157 Elucidation of the mutational landscape of human cancer has progressed rapi

158 in cutaneous melanoma genomic profiling, the mutational landscape of primary mucosal melanomas (PMM)

159 The novel mutational landscape of quiescence is characterized by i

160 vided additional insights on patterns of the mutational landscape, going beyond cancer driving mutati

161 These studies establish functional and mutational landscapes of BRCA1 for HDR and therapy resis

162 show that, despite having indistinguishable mutational landscapes, human rhabdoid tumors exhibit dis

163 hich demonstrate differences in survival and mutational load as well as stromal and immune cell compo

164 er incomplete, and several studies show that mutational load can reduce tumor fitness.

165 -3 mutations and highlight the importance of mutational load in influenza virus evolution.

166 splastic nevi harbored a substantially lower mutational load than melanomas (21 protein-changing muta

167 were significantly mutated, and the overall mutational load was associated with APOBEC-signature mut

168 th other tumor characteristics such as tumor mutational load, aneuploidy may thus help identify patie

169 c BCCs, BCNS-BCCs have a significantly lower mutational load, lower proportion of UV mutagenesis, inc

170 compared clonal heterogeneity, somatic total mutational load, neoantigen load, and somatic copy numbe

171 ndependent of age, sex, smoking history, and mutational load.

172 reduction in population fitness known as the mutational load.

173 ll malignancies respond, possibly due to low mutational load.

174 edominantly by copy-number changes, with low mutational loads and only a few genes (TP53, ATRX, RB1)

175 It may represent an age-independent mutational mechanism that contributes to the development

176 Here we demonstrate that these two mutational mechanisms are not equivalent.

177 To understand the mutational mechanisms generating somatic structural vari

178 ental inheritance can effectively combat the mutational meltdown, and that homologous recombination u

179 ulated DNA sequence datasets under different mutational models and real biological sequences.

180 cales and suggest the possibility of mapping mutational modifiers.

181 difficult, graph-theoretic properties of the mutational networks enable accurate prediction even from

182 While we observed no significant mutational or transcriptional changes in the Kras-inhibi

183 umber alterations or demonstrate significant mutational overlap.

184 co-evolutionary model to predict networks of mutational paths and the evolutionary outcomes for micro

185 vely different cyclic peptides through short mutational paths based on indels.

186 metabolic trade-off to generate networks of mutational paths in microbial communities and show that

187 determine the entropy, or repeatability, of mutational paths.

188 This combined functional and mutational pathway assessment of a single cell could be

189 Tumor mitochondrial genomes show distinct mutational patterns and are disproportionately enriched

190 genic processes often produce characteristic mutational patterns called mutational signatures.

191 Understanding the mutational patterns that define the maturation pathways

192 EC3B (A3B) has been correlated with kataegic mutational patterns within multiple cancer types.

193 used to study three well-characterized HAMP mutational phenotypes: those that cause flagella rotatio

194 minate a prevalent and hitherto unrecognized mutational process linking cellular lineage and cancer.

195 However, the mutational process that generates these lineages, somati

196 acquire mutations, mostly accessing the same mutational processes active in the primary tumor.

197 ogression into melanomas requires additional mutational processes affecting key tumor suppressors.

198 e provides insights into the mutation rates, mutational processes and developmental outcomes of cell

199 r genomes is not simply a product of various mutational processes and positive selection, but might a

200 duced cancers is particularly scarce and the mutational processes defining ionizing radiation (IR)-in

201 ation compared to Europeans, suggesting that mutational processes have evolved rapidly between human

202 n about the progression and heterogeneity of mutational processes in different cancers and their diag

203 ese variations provides insight into the DNA mutational processes occurring in early embryos and the

204 To classify PDAC according to distinct mutational processes, and explore their clinical signifi

205 st-zygotic mutations and population-specific mutational processes.

206 to be able to not only decompose a patient's mutational profile into signatures but also establish th

207 Capture sequencing revealed diverse mutational profiles across tumors.

208 y query sample with subsequent comparison to mutational profiles derived from malignant and benign sa

209 major pancreatic cysts has identified unique mutational profiles for cyst type and genetic alteration

210 By comparing mutational profiles in different biological contexts, we

211 to sensitively determine transcriptional and mutational profiles of individual cancer cells, leading

212 mutational signatures, copy number, and SNV mutational profiles reflect the expected heterogeneity i

213 published datasets, not all of which provide mutational profiles, survival data, or the specifics of

214 Herein, we used SHAPE-mutational profiling (SHAPE-MaP) to probe PAN in its nuc

215 Single-cell copy number or mutational profiling was performed, in addition to bulk

216 Here we present dimethyl sulfate (DMS) mutational profiling with sequencing (DMS-MaPseq), which

217 s through dimethyl sulfate (DMS) probing and mutational profiling.

218 dispersal and cell turnover will account for mutational proportions.

219 We use these data sets to precisely measure mutational rates and patterns.

220 This in turn allowed mutational redesign of disassembly and testing in both b

221 To portray the mutational repertoire of dysplastic nevi in patients wit

222 est and survival of individuals with greater mutational robustness ("flattest").

223 Here, via a deep mutational scan, we dissect how mutations at all positio

224 We performed a virtual deep mutational scan-revealing the individual and pairwise ep

225 s in mind, we sought to demonstrate how deep mutational scanning (DMS) could provide details about im

226 that can empower researchers analyzing deep mutational scanning data.

227 Deep mutational scanning is a widely used method for multiple

228 e ancestral protein reconstruction with deep mutational scanning to characterize alternative historie

229 sing a combination of yeast display and deep mutational scanning.

230 We performed a mutational screening of the CACNA1A gene, including the

231 This indicated that COSMIC mutational signature 24, previously hypothesized to stem

232 ts of large (>100 kb) tandem duplications, a mutational signature associated with homologous-recombin

233 tory of individual cells, we uncover a novel mutational signature in healthy aging endocrine cells.

234 e subsequently identify and validate a novel mutational signature in post-treatment tumors consistent

235 Independent of an evolving mutational signature, we show that the growth of gliobla

236 ower frequency and a different UV-associated mutational signature.

237 -repair gene (SMUG1) correlate with a C-to-T mutational-signature.

238 We identify six mutational signatures (E1-E6), and Signature E4 is uniqu

239 e from NGS data that well-defined carcinogen mutational signatures are indeed present in tumour genom

240 even in the presence of UNG, and identified mutational signatures associated with combined UNG and S

241 new method for the statistical estimation of mutational signatures based on an empirical Bayesian tre

242 Mutational signatures can be used to understand cancer o

243 n the pooled analysis IR was associated with mutational signatures common to both species.

244 The stability of NMF-generated mutational signatures depends upon the numbers of varian

245 AFB1 mutational signatures from all four experimental systems

246 The extraction of mutational signatures from high-throughput data still re

247 The order of mutational signatures identified previous treatment and

248 tion (NMF) into discrete trinucleotide-based mutational signatures indicative of specific cancer-caus

249 Mutational signatures inferring defects in DNA repair we

250 e present the first whole-genome data on the mutational signatures of AFB1 exposure from a total of >

251 ression model to identify six distinguishing mutational signatures predictive of BRCA1/BRCA2 deficien

252 Cancer mutational signatures reflect exogenous or endogenous pr

253 hromosomal amplifications and deletions, and mutational signatures suggesting defective DNA repair.

254 Here we describe the mutational signatures they harbour, including a deficien

255 Integrating all of the classes of mutational signatures thus reveals a larger proportion o

256 We integrated the experimental mutational signatures with data from newly sequenced HCC

257 ion/deletion and rearrangement patterns, or 'mutational signatures', were associated with BRCA1/BRCA2

258 ations (88%), copy number alterations (80%), mutational signatures, and neoantigens between cfDNA and

259 post-chemotherapy samples from 10 cases, the mutational signatures, copy number, and SNV mutational p

260 d, ncdDetect, which includes sample-specific mutational signatures, long-range mutation rate variatio

261 ce characteristic mutational patterns called mutational signatures.

262 The mutational specificity of the Poldelta variant matches t

263 ed to monitor acquisition of high-resolution mutational spectra (HRMS) during the process of hepatoca

264 xy for mutational input, we report here that mutational spectra differ substantially among species, h

265 cases have, however, further clarified their mutational spectrum and identified new oncogenic subtype

266 ce, we confirmed the replication-independent mutational spectrum at the whole-genome level of a clona

267 The study expands the mutational spectrum for LGMD2N, with the description of

268 These results suggest that the observable mutational spectrum of cancer genomes is not simply a pr

269 However, the complete mutational spectrum of SV has not been routinely capture

270 Our study further expands the mutational spectrum of this gene and the associated clin

271 To assess the mutational spectrum within the FANCM gene, and to determ

272 their frequency and changes their molecular mutational spectrum, causing further enhancement of the

273 nce to cetuximab is dependent upon both KRAS mutational status and protein expression level, and acqu

274 Together, our results demonstrate FBW7 mutational status as a key genetic determinant of CRC re

275 uggest that the number of altered genes, the mutational status of KRAS and certain morphological subt

276 Mutational status was correlated with biological paramet

277 Mutational status was determined by pyrosequencing metho

278 tology, and isocitrate dehydrogenase 1 R132H mutational status.

279 lorectal liver metastases, according to KRAS mutational status.

280 cluded sex, prior adjuvant therapy, and BRAF mutational status.

281 Single channel analysis, mutational studies and molecular dynamics simulations sh

282 Mutational studies demonstrated that the Ssb proteins ar

283 t experimentalist to prioritize residues for mutational studies in their efforts to characterize cata

284 Mutational studies reveal that all the five residues in

285 The mutational studies revealed that this glutaminylation is

286 ed to provide predictions for the results of mutational studies.

287 the 3-year treatment was found in the other mutational subgroups examined.

288 Five predominant mutational subtypes were identified that clustered PDAC

289 ide the basis for antagonist selectivity and mutational swap studies confirmed this hypothesis.

290 mutations in the sexual populations through mutational sweeps.

291 exons, and splicing elements present a large mutational target for disease-causing mutations.

292 Second, males may present a larger mutational target than hermaphrodites because of the dif

293 Recommendations Evidence supports mutational testing for genes in the EGFR signaling pathw

294 Expanded mutational testing, such as next-generation sequencing (

295 ic explanation, especially given the general mutational tolerance of proteins.

296 The NS1 gene exhibited distinct mutational tolerances at different stages of the screen.

297 nza genome and the accessibility of specific mutational trajectories are significantly impacted by ho

298 Estimates of mutational variance (VM) for male mating success and com

299 t the idea that adaptation is also shaped by mutational variation is controversial.

300 ctrum analyses revealed a complex dynamic of mutational waves, which was sustained beyond passage 100