ライフサイエンスコーパス: mutational

1 Mutational activation of the BRAF proto-oncogene in mela

2 Mutational analyses identified a FxxxLxxxK binding motif

3 Structure-guided mutational analyses identified residues critical for act

4 ser extent than hmx3a More surprisingly, our mutational analyses suggest that Hmx3a may not require i

5 Subsequent mutational analyses suggested that the ExoY oligomerizat

6 Our mutational analyses support the critical role of this co

7 eptidyl transferase center (PTC) active site mutational analyses to inform design.

8 Mutational analyses transitioning PiCas12a to PdCas12a r

9 Using mutational analyses, we demonstrate that, in addition to

10 Using 3-dimensional molecular modeling and mutational analyses, we identified the nucleotide bases

11 oscopic and immunohistological features with mutational analyses.

12 uclear magnetic resonance data and performed mutational analysis and functional assays to identify th

13 By mutational analysis and uncoupling of ISW1a's dinucleoso

14 analysis was compared to the current MAPREC (mutational analysis by polymerase chain reaction and res

15 Comprehensive mutational analysis demonstrated that nearly all G/U pai

16 Mutational analysis demonstrates that the majority of th

17 Mutational analysis demonstrates that the methionine res

18 hat included a serum tryptase determination, mutational analysis for KIT D816V, and bone marrow evalu

19 Mutational analysis found that the NSs-A46 mutant, which

20 Phylogenetic and mutational analysis in combination with activity and phe

21 However, mutational analysis in vitro and in vivo led to the surp

22 Mutational analysis indicated that the TCP target motif

23 Mutational analysis of all residues of the (extracellula

24 Mutational analysis of PE2 suggest that its signaling ab

25 Using a D2-truncation RPTPalpha variant and mutational analysis of the D1/D2 interfaces, we show tha

26 Through mutational analysis of the element, we demonstrate that

27 ace force apparatus combined with systematic mutational analysis of the functional surfaces to direct

28 Mutational analysis of the LLI sequence with alanine and

29 Mutational analysis of this aromatic cage supports its r

30 However, mutational analysis of tumours has largely been exhauste

31 Mutational analysis revealed an overlap between LRP1 bin

32 Mutational analysis showed that the GXXG loop in the KH

33 luding genomics, network reconstruction, and mutational analysis to identify and validate molecular n

34 Mutational analysis uncovered two dsRNA-binding domains

35 Furthermore, the mutational analysis uncovers the TM1 region of Mgr2 crit

36 We combined yeast genetics and Gag mutational analysis with Gag-ESCRT binding studies and t

37 Mutational analysis, combined with bacterial two-hybrid

38 Together with a broad mutational analysis, we identify essential residues dire

39 ion of CENH3 in maize by over-expression and mutational analysis.

40 r function has not been studied in detail by mutational analysis.

41 el also helps explain and integrate previous mutational and biophysical data, particularly the mutati

42 Mutational and copy number variation analysis of a large

43 associated with clinicopathologic features, mutational and immune landscape.

44 Evidence from the systematic gene-level mutational and protein profile analyses revealed a large

45 Based on structural, mutational, and biochemical analyses, the cofactor chann

46 ng ETT2, but which has undergone significant mutational attrition rendering it without predicted func

47 We discuss the implications of mutational bias as an evolutionary driver in other cis-r

48 s necessary for ESE function were created by mutational bias coupled with purifying selection on the

49 A high tumour mutational burden (hypermutation) is observed in some gl

50 Tumor Mutational Burden (TMB) is a measure of the abundance of

51 Tumor mutational burden (TMB) was similar to muscle-invasive d

52 or MCPyV status, PD-L1 expression, and tumor mutational burden (TMB) were assessed in pretreatment tu

53 bladder cancer (GBC), association with tumor mutational burden (TMB), microsatellite instability (MSI

54 Tumour mutational burden alone or in combination with IFNgamma

55 etabolic activity changes vs. the pronounced mutational burden and ESCC-associated metabolic changes

56 sively analyse the molecular determinants of mutational burden and signatures in 10,294 gliomas.

57 tumour immunological activity, a high tumour mutational burden and specific characteristics of the gu

58 ate is largely due to the action of RIP, the mutational burden appears to be RIP-associated but not d

59 lue, although blood-based measures of tumour mutational burden did not have predictive value in patie

60 rammed cell death ligand 1 (PD-L1) nor tumor mutational burden differentiated PFS in either study arm

61 Mutational burden has been linked to complex disease, in

62 ve genes, we searched for highly significant mutational burden in candidate genes.

63 year prediagnosis) had significantly higher mutational burden in genes frequently mutated in ATL tha

64 enetic summary statistics that represent the mutational burden in genes with biological networks, suc

65 ecific prevalence of disease, as well as the mutational burden in healthy subjects.

66 a that the 'toxic' Y chromosome can create a mutational burden in males when genome-wide defense mech

67 ational signatures in whole exome, and tumor mutational burden in predicting NAC response.

68 dvancing DNA analysis techniques to quantify mutational burden in sun-damaged skin and its reduction

69 Patients with tumour mutational burden in the lower two terciles seem to deri

70 Although low tumor mutational burden is a major hurdle for immune checkpoin

71 nce mutations per genome per generation, the mutational burden is an order of magnitude higher than t

72 Mutational burden is higher in moderate dysplasias and i

73 ey challenges are the inconsistency of tumor mutational burden measurement among assays and the lack

74 Tumour mutational burden might have some predictive value, alth

75 However, patients with high tumour mutational burden seem to have a less pronounced benefit

76 ures that correlate with outcome, e.g., high mutational burden, ERCC2 mutations, and high APOBEC-A/ER

77 Tobacco smoking was the major influence on mutational burden, typically adding from 1,000 to 10,000

78 smatch repair deficient (MMR-D) and/or tumor mutational burden-high (TMB-H) endometrial cancers (ECs)

79 se to checkpoint inhibitors than the tumors' mutational burden.

80 (PFS) events were associated with low tumor mutational burden/T cell-inflamed gene expression signat

81 Deep sequencing revealed similar mutational burdens and signatures in normal and mutant c

82 We propose that iterations of this mutational cascade generate the continuing evolution and

83 ng the contribution of each signature to the mutational catalogues of individual cancer genomes, we r

84 heir employment to investigate the effect of mutational changes in genes encoding for proteins modula

85 broader ape expression pattern arose due to mutational changes that emerged in cis.

86 oss cancer types, irrespective of underlying mutational class.

87 tation rates and relative impact on specific mutational classes (e.g., insertion/deletion [indel] vs.

88 Our approach reliably quantifies mutational co-occurrences, zygosity status, and the occu

89 c behaviour of STRs, including abundance and mutational constraints.

90 al data are supported using a combination of mutational, crosslinking, and kinetic analyses, and long

91 ree regions, suggesting that much HT-induced mutational damage occurs during cell-cycle phases when g

92 For influenza virus, mutational data have shown that the membrane-inserted po

93 998 ), which aims to provide cytogenetic and mutational data within 7 days (d) from sample receipt an

94 therapies, it is important to elucidate how mutational defects in CFTR lead to its impairment and ho

95 The mutational disruption of covalent bond formation between

96 Indeed, mutational disruption of these interactions resulted in

97 y repressive E2F complexes and that viral or mutational disruption of this regulatory network trigger

98 itro models do not preserve the cellular and mutational diversity of parent tumors and often require

99 s forms of Abeta (1-40) oligomers, whereas a mutational DNAJB6 variant in which the S/T residues have

100 ogenetic methods are often used to model the mutational dynamics of BCR sequence data, but these tech

101 stasis theory explains the universalities in mutational effects and evolutionary trajectories as emer

102 ting the function of Pah1, we found that the mutational effects of the Spo7 LLI sequence were on the

103 atory variation, and studies comparing these mutational effects with variation seen in the wild are t

104 ation as low as 0.058 ng/ml) and may prevent mutational escape.

105 Focusing on mutational events, we provide a mathematical model of th

106 stinct enrichment for insertion and deletion mutational events.

107 of depth limitations, can only identify old mutational events.

108 branched trajectories, with a clear order of mutational events.

109 Mutational evidence suggests that two members of this fa

110 isiae using a combination of bioinformatics, mutational experiments, and evolutionary analyses, and s

111 cate that cytosine methylation has a broader mutational footprint than is commonly assumed.

112 Our results thus suggest that mutational freedom in mt tRNA genes is an adaptation to

113 oantigens has clinical relevance even in low-mutational frequency cancers like fusion-driven AML.

114 ng B cell accumulation, clonal expansion and mutational frequency from the cecum to the sigmoid colon

115 Furthermore, we observe differences in mutational frequency of several genes and pathways by tu

116 leading to a complex network of premalignant mutational genotypes on the way to colorectal cancer.

117 Mutational heterogeneity can contribute to therapeutic r

118 We examined mutational heterogeneity within individual patients with

119 co-occurrence and enables reconstruction of mutational histories characterized by linear and branchi

120 ncing, we report the clonal architecture and mutational histories of 123 acute myeloid leukemia (AML)

121 This led to our discovery of a mutational hot spot at HBoV1 capsid position 590 that ac

122 This residue belongs to 1 of the 2 mosaic mutational hot spots that face each other in the core of

123 the PDE3A gene and define this segment as a mutational hotspot in hypertension with brachydactyly.

124 tificial intelligence algorithm identified a mutational hotspot in the sequence of S that also displa

125 contrast, missense variants cluster into two mutational hotspots in the TRIO sequence, one in the sev

126 tuted budding yeast replisomes, we show that mutational inactivation of the leading strand DNA polyme

127 alysis of double-mutant rates and associated mutational interactions produces a structural and functi

128 eaminase-mediated mutations can dominate the mutational landscape ('mutator phenotype') of some cance

129 t signaling is independent of the underlying mutational landscape and has a common origin in dysregul

130 Because of numerous fusion partners, the mutational landscape and prognostic impact of specific 1

131 Individual MHC genotype constrains the mutational landscape during tumorigenesis.

132 osine deamination contributes to the overall mutational landscape in breast cancer.

133 We aimed to describe the mutational landscape of advanced HCC and to identify pre

134 Little is known about the mutational landscape of advanced hepatocellular carcinom

135 Our data extend the mutational landscape of IGD, highlight the genetic links

136 mental pipeline to systematically assess the mutational landscape of RGS GAPs in cancer.

137 utational scanning (DMS) studies exploit the mutational landscape of sequence variation by systematic

138 expression strains, drastically reshapes the mutational landscape of the metabolic enzyme dihydrofola

139 arC, in all three organisms, and suggest the mutational landscape of those genes with respect to FQ r

140 Finally, age of onset appears to affect the mutational landscape suggesting that a larger age-divers

141 hat the TERT promoter harbors a more complex mutational landscape than previously thought.

142 Protein mutational landscapes are shaped by the cellular environ

143 owed extraction of specific features of many mutational landscapes but it remains difficult to retros

144 ur findings suggest possibilities for tuning mutational landscapes by modulating the cellular environ

145 Our results show that mutational landscapes differ markedly between normal tis

146 Recent DLBCL reclassification based on mutational landscapes identified MCD/C5 tumors as specif

147 erful tool that is capable of simulating the mutational landscapes of thousands of cancer genomes at

148 e is the fast generation of accurate somatic mutational landscapes that can be used as a realistic nu

149 Elevated hypoxia associates with increased mutational load across cancer types, irrespective of und

150 ological growth rate--which is a function of mutational load and population susceptibility to the clu

151 Here, we directly estimate the mutational load in a population of haploid Saccharomyces

152 r analyses reveal that the change in somatic mutational load in cancer genomes is co-localized with t

153 gher frequency per sample and carry a higher mutational load in high-risk than in low-risk tumors.

154 Mutational load is the depression in a population's mean

155 The impact of racial/ethnic differences in mutational load on placental function directly affecting

156 are the source of both genetic diversity and mutational load.

157 and may, in particular, add detrimentally to mutational load.

158 ly, we estimate the relative impact of known mutational mechanisms - CpG deamination, replication err

159 We show that the mutational mechanisms affected by strong nucleosomes are

160 ly classify MNVs, and understanding of their mutational origins remains limited.

161 nal plasticity and redundancy through myriad mutational pathways.

162 molecular and evolutionary principles to map mutational patterns and model interactions between cells

163 h an 11q23/KMT2A rearrangement have distinct mutational patterns and outcomes depending on the fusion

164 Mutational patterns confirm that the interleukin-6-JAK1-

165 utation rate at megabase scale and the local mutational patterns jointly contribute to distinguishing

166 tudies into the etiologies and mechanisms of mutational patterns uncovered in cancers.

167 tational challenges in analysing the complex mutational patterns.

168 shows, in particular, that the magnitude of mutational perturbations of the transition state is cont

169 tor requirements of phages and mechanisms of mutational phage insensitivity must be characterized for

170 Chromothripsis is a mutational phenomenon characterized by massive, clustere

171 Three different mutational precursors of chronic lymphocytic leukaemia (

172 particularly when confined to predicting the mutational preferences of limited common ancestral desce

173 ages evolutionary constraints on the somatic mutational process in cancer to reduce ambiguity in the

174 This mutational process may be a causal driver or inconsequen

175 ectal cancer and implies that the underlying mutational process results directly from past exposure t

176 some breakage-fusion-bridge (BFB) cycle is a mutational process that produces gene amplification and

177 air-associated signature as a prominent late mutational process, whereas APOBEC signature targeting C

178 Mutational processes acting on cancer genomes can be tra

179 This study reveals a rich landscape of mutational processes and selection in normal urothelium

180 Decoding the mutational processes by examining their unique patterns

181 Multiple mutational processes drive carcinogenesis, leaving chara

182 The discovery of current mutational processes for predicting the tumor's evolutio

183 racterize evolutionarily conserved mammalian mutational processes in gliomagenesis.

184 We show that different mutational processes lead to distinct somatic mutation d

185 , we investigate the landscape and timing of mutational processes shaping multiple myeloma evolution

186 ic aberrations and the changing influence of mutational processes(3).

187 prehension of its associations with specific mutational processes, non-coding driver genes and evolut

188 een spatial genome organization and specific mutational processes, we studied 3,000 tumor-normal-pair

189 -cancer insight into evolutionary changes in mutational processes.

190 The mutational profile is unusual; ~50 different missense mu

191 To characterize its mutational profile, we conduct targeted sequencing of 20

192 on signatures (GESs), previously undescribed mutational profiles and their corresponding GESs, and se

193 st deep learning model DeepMS on WGS somatic mutational profiles enable us identify more comprehensiv

194 st personalized therapies by correlating GBO mutational profiles with responses to specific drugs and

195 transcription of long RNAs, dimethyl sulfate mutational profiling (DMS-MaP), selective 2'-hydroxyl ac

196 l acylation analyzed by primer extension and mutational profiling (SHAPE-MaP), using ultra-long ampli

197 This work sets a foundation for BC mutational profiling on a Lab-on-Chip device, to help th

198 We additionally performed dimethyl sulfate mutational profiling with sequencing (DMS-MaPseq) to gen

199 Here we use dimethyl sulfate mutational profiling with sequencing (DMS-MaPseq) to inv

200 ral bioinformatics, we show that a universal mutational propensity drives sites that are buried in mu

201 Here we show that a hydrophobic mutational ratchet systematically entrenches molecular c

202 We studied the mutational rates of 24 index tuberculosis (TB) cases and

203 either identify driver genes on the basis of mutational recurrence or approximate the functional cons

204 se to methods for finding cancer drivers via mutational recurrence.

205 ally poorly understood and often obscured by mutational robustness, sequence degeneracy, and epistasi

206 ions with host cells, and highlight how deep mutational scan data can inform evolutionary hypotheses.

207 The deep mutational scan scores identified 40 putative gain-of-fu

208 In this study, we combined two recent deep mutational scanning (DMS) datasets probing the effects o

209 Deep mutational scanning (DMS) studies exploit the mutational

210 Here, we generate deep mutational scanning data to identify mutant mammalian ki

211 Deep mutational scanning is a complementary approach that can

212 esent a function-centric approach using deep mutational scanning to elucidate the molecular basis and

213 Here, we employ deep mutational scanning to probe the local fitness landscape

214 More broadly, by linking deep mutational scanning with engineered transcriptional repo

215 Using deep mutational scanning, we comprehensively measured how sin

216 Using deep mutational scanning, we engineered yeast with all 44,604

217 Using deep mutational scanning, with a focus on epitope residues, w

218 mbining a competitive growth assay with deep mutational scanning.

219 ging and cancer, the processes that underpin mutational selection in normal tissues remain poorly und

220 ional and biophysical data, particularly the mutational sensitivity of the fusion peptide N terminus

221 k sites and establishes a readily detectable mutational signal that allows for determination of the n

222 We identify two determinants of response; mutational signature 3 reflecting defective homologous r

223 Mutational signature analyses pointed towards APOBEC dea

224 Mutational signature analysis revealed age- and gender-r

225 We identify eight processes, including a mutational signature caused by exposure to melphalan.

226 In this review, we highlight key aspects of mutational signature experimental design and describe th

227 Our study describes a distinct mutational signature in colorectal cancer and implies th

228 , characterized by high prevalence of APOBEC mutational signature in younger females and over-represe

229 The cohort harbored a mutational signature of BRCA and APOBEC/AID.

230 and after this exposure revealed a distinct mutational signature that was absent from organoids inje

231 The same mutational signature was detected in a subset of 5,876 h

232 structing the chronological activity of each mutational signature, we estimate that the initial trans

233 rden (TMB) and a dominant ultraviolet damage mutational signature, which suggested that for the subse

234 ficient cancers, which display a distinctive mutational signature.

235 xpansion of a single cancer cell bearing the mutational signature.

236 iency was identified in 69% of TNBC with the mutational-signature-based HRDetect assay.

237 Mutational signatures analysis showed how cytotoxic agen

238 positive case-control samples to investigate mutational signatures and the role of human APOBEC3-indu

239 Our data show that mutational signatures are joint products of DNA damage a

240 -effective method, called mutREAD, to detect mutational signatures from small quantities of DNA, incl

241 We show that mutREAD recapitulates mutational signatures identified by whole genome sequenc

242 pletely capture the patterns of substitution mutational signatures in human cancer; (iii) information

243 everal landscapes parallel the repertoire of mutational signatures in human cancers while others are

244 cing, and will ultimately allow the study of mutational signatures in larger cohorts and, by compatib

245 resentation of environmental carcinogen-like mutational signatures in older females.

246 wide frequencies of copy number alterations, mutational signatures in whole exome, and tumor mutation

247 ression may drive BIR, and contribute to the mutational signatures observed in BRCA1-mutated cancers.

248 We propose to identify mutational signatures of available SARS-CoV-2 sequences

249 Cancers with HRDetect mutational signatures of HR deficiency had a functional

250 en subjects; and generating several distinct mutational signatures of substitutions and of insertions

251 ntification of the structural and functional mutational signatures relevant to Mendelian disorders an

252 strong PDL1 expression, and the frequency of mutational signatures suggestive of immunotherapy resist

253 us identify more comprehensive context-based mutational signatures than traditional NMF approaches.

254 ons occur on longer cfDNA fragments and lack mutational signatures that are associated with tobacco s

255 We characterized mutational signatures that were consistent with those re

256 Cancer Genome Atlas (TCGA), we characterized mutational signatures using 84,729,690 somatic mutations

257 Mutational signatures were heterogeneous across clones a

258 We present a comprehensive analysis of mutational signatures, driver genes, and molecular subty

259 We identify four de novo mutational signatures, one of which matches the COSMIC A

260 ancer and the association of HPV with APOBEC mutational signatures, which suggests that impaired anti

261 ted rearrangements were linked with univocal mutational signatures, with clusters of point mutations

262 dom patterns of DNA mutations, also known as mutational signatures.

263 antify the contributions of these factors to mutational signatures.

264 ancer genomes can be traced by investigating mutational signatures.

265 se to mutator phenotypes with characteristic mutational spectra.

266 The mutational spectrum changes significantly throughout tum

267 increased mutation frequency and an altered mutational spectrum compared with the repair of cisplati

268 The mutational spectrum of many genes and their contribution

269 ablished for ABCA4 variants and broadens the mutational spectrum of the gene.

270 of the crosslink, culminating in a distinct mutational spectrum.

271 The mutational state of NOTCH1, p-ERK and RelB could serve a

272 d colorectal cancer organoids with known Ras mutational status according to their response to Ras inh

273 Mutational status and metastatic pattern were correlated

274 ategies that target KIT independently of the mutational status are intriguing.

275 BI-ALCLs expressed pSTAT3, regardless of the mutational status of genes in the JAK/STAT pathway.

276 Nonetheless, correlation between mutational status of MIUC and metastatic pattern is unkn

277 Purpose To investigate the association of mutational status of MIUC with metastatic pattern, metas

278 Conclusion Mutational status of muscle-invasive urothelial cancer h

279 Mutational status was correlated with location of metast

280 information on their functionality, somatic mutational status, class switch recombination, and oncog

281 ted 60 melanoma cell lines for TERT promoter mutational status, copy number, gene expression, and tel

282 ed with improved outcomes regardless of KRAS mutational status.

283 D genotypes based on the ITD AR and the NPM1 mutational status.

284 110)-expressing CLL cases regardless of IGHV mutational status.

285 ects of BRAFi in any melanoma, regardless of mutational status.

286 id autopsy was performed, and compared their mutational statuses.

287 ection for antibiotic resistance in multiple mutational steps is relatively facile despite the comple

288 ggesting a lack of host or bacterial derived mutational stress.

289 Mutational studies demonstrated that the flexibility of

290 ons, using statistical coupling analysis and mutational studies on mouse ASIC1a.

291 Mutational studies suggest that the MUN-bound template c

292 A mutational study showed TP53, NOTCH1 and DNMT3 to be mut

293 Our data indicate that a broad mutational target size is the cause of the high mutation

294 Our results corroborate findings of mutational tolerance in GPCRs, even in conserved motifs,

295 Here, we present the mutational, transcriptional, and copy number profiles of

296 ifferent cells, introducing the concept of a mutational "transcriptotype" that differs from the genot

297 ational target size is the cause of the high mutational variance and of the corresponding fast phenot

298 ned action of natural selection or by a high mutational variance, that is the propensity to change un

299 date causal mutations underlying P3.p's high mutational variance.

300 ly apparent, especially when confronted with mutational variants of unknown significance.