ライフサイエンスコーパス: genetic alteration

1 , however many cases lack a known initiating genetic alteration.

2 tone variant, H3.3-G34W, as a sole recurrent genetic alteration.

3 s adapt to unfavourable environments without genetic alteration.

4 ficant differences in GRs when stratified by genetic alteration.

5 ffective than CRISPR/mRNA in avoiding mosaic genetic alteration.

6 ovel tumor immune evasion mechanisms through genetic alterations.

7 subtle biomolecular binding distortions and genetic alterations.

8 el carcinomas we found potentially treatable genetic alterations.

9 ression was enriched in tumors with specific genetic alterations.

10 in tumors by uncovering several novel driver genetic alterations.

11 entiation and excluding pathognomonic (cyto-)genetic alterations.

12 ng tumor size, histopathologic features, and genetic alterations.

13 s of uterine leiomyoma (LM) with distinctive genetic alterations.

14 orbidity between diseases caused by the same genetic alterations.

15 tologically diverse malignancies with common genetic alterations.

16 urvival pathways, and multiple low-frequency genetic alterations.

17 inical heterogeneity, despite relatively few genetic alterations.

18 ut malignant progression requires additional genetic alterations.

19 ents, that are defined by mutually exclusive genetic alterations.

20 ype causes disease due to psoriasis-specific genetic alterations.

21 ra of disease-associated and disease-causing genetic alterations.

22 Genetic alteration, abnormal expression, or dysfunction

23 activated protein kinase (MAPK) signaling or genetic alteration across human cancer.

24 Despite extensive genetic alterations across 6% of the genome, no major gl

25 The most frequent genetic alterations across multiple human cancers are mu

26 investigate functional significance of their genetic alterations across samples, genes, and pathways.

27 Here, I review the common genetic alterations across the spectrum of thyroid neopl

28 However, it has remained unclear how these genetic alterations affected the structure of SepSecS an

29 enetic diseases are believed to be caused by genetic alterations affecting the function of signalling

30 rearrangements of ALK, DUSP22/IRF4, and TP63 Genetic alterations affecting TP53 and the mutational st

31 (GBM) tumors exhibit potentially actionable genetic alterations against which targeted therapies hav

32 , each of which is associated with different genetic alterations, age at onset and prognosis.

33 ression classifier (GEC), the sensitivity of genetic alterations alone was 42%, compared to the 91% s

34 ession changes, which cannot be explained by genetic alterations alone.

35 omosomal translocation accumulate additional genetic alterations, although not all of these cells pro

36 r entities, each associated with a recurrent genetic alteration and distinct histopathological and cl

37 e calculated and patients were stratified by genetic alteration and other clinical and genetic factor

38 ad and neck cancers, despite an abundance of genetic alterations and a T-cell-inflamed phenotype.

39 (ROS) than do non-malignant cells because of genetic alterations and abnormal growth; as a result, ma

40 invasively, tested for treatment-determining genetic alterations and are considered to reflect the ge

41 to elucidate the reciprocal roles played by genetic alterations and cell identity in cancer formatio

42 ioma in the CSF included a broad spectrum of genetic alterations and closely resembled the genomes of

43 A better understanding between genetic alterations and drug responses would facilitate

44 pigenetic modifications are less stable than genetic alterations and even reversible under a variety

45 eneous, consisting of subclones with various genetic alterations and functional roles.

46 We identified genetic alterations and gene expression patterns associa

47 l of bladder cancer cell lines which exhibit genetic alterations and gene expression patterns consist

48 Genetic alterations and genomic reprogramming underlie t

49 n data and to establish associations between genetic alterations and global expression patterns in la

50 rkers that serve as surrogates for molecular genetic alterations and identification of characteristic

51 ions for known clinically actionable somatic genetic alterations and identified new predictive biomar

52 sion genes in the absence of other recurrent genetic alterations and mechanisms of tumor heterogeneit

53 prehensive description of disease-associated genetic alterations and perturbed pathways is still lack

54 ity has been extensively studied in terms of genetic alterations and phenotypic properties such as dr

55 e evidences that the interplay between these genetic alterations and the tumor microenvironment selec

56 We showed that the incidence of MYC/BCL2 genetic alterations and their clinical significance were

57 In summary, we delineate specific genetic alterations and their sequential order, informat

58 ssue samples have uncovered a high degree of genetic alterations and tumour heterogeneity in most tum

59 To improve outcomes, deeper understanding of genetic alterations and vulnerabilities in R/M tumors is

60 These mice did not have any other engineered genetic alterations and were not exposed to liver toxins

61 V) might function as a novel tumor-promoting genetic alteration, and potentially an oncogene, in cert

62 ent tumors with distinct clonal composition, genetic alterations, and drug sensitivities.

63 advanced HCC harbored potentially druggable genetic alterations, and MET amplification was associate

64 Although some of these genetic alterations are clonal in the PIPs, many of the

65 Genetic alterations are essential for cancer initiation

66 Genetic alterations are known drivers of autoimmune dise

67 n biological samples is still challenging as genetic alterations are only partially predictive and di

68 However, such genetic alterations are rare in most cancer types and th

69 inal stromal tumours (GISTs), and additional genetic alterations are required for progression to mali

70 g that viral integration induced host driver genetic alterations are required on top of viral oncogen

71 in murine models, indicating that additional genetic alterations are required.

72 resistance, which are largely attributed to genetic alterations, are barriers to effective anti-epid

73 These genetic alterations arise through the aberrant repair of

74 Yamaguchi sarcoma viral oncogene homolog 1) genetic alteration as a therapeutic target and predictiv

75 2323-2324insT) was identified as a potential genetic alteration associated with AgP occurrence.

76 WDR62 is the second most common genetic alteration associated with microcephaly.

77 d oncology by finding and targeting specific genetic alterations associated with cancers.

78 Genetic alterations associated with prostate cancer (PCa

79 r, the clinical significance of co-occurring genetic alterations at baseline, co-acquired mutations a

80 Despite a fairly stable pool of driver genetic alterations between early and late disease, a nu

81 The presence of genetic alterations beyond RB1 inactivation correlates w

82 Because each tumor carries only one genetic alteration, both subtypes are considered to be m

83 erges not only from specific combinations of genetic alterations but also from the acquisition of exp

84 the identification of cancer-related sets of genetic alterations by identifying relevant combinatoria

85 ave confirmed the functional impact of these genetic alterations by measuring gemcitabine metabolites

86 n the mechanism of the synergy between these genetic alterations by modeling hematopoietic abnormalit

87 Genetic alterations can be used as molecular drug target

88 OO subtype-specific biomarkers based on BCL2 genetic alterations can be used to risk-stratify patient

89 mble view clarifies how even seemingly small genetic alterations can lead to pleiotropic traits in ad

90 racellular signaling, immune engagement, and genetic alterations characteristic of favorable prognosi

91 Patterns of genetic alterations characterize different molecular sub

92 and diverticular disease, which encompasses genetic alterations, chronic low-grade inflammation and

93 Genetic alterations commonly found in human cancers (e.g

94 f primate BST-2 on lentiviral Vpu.IMPORTANCE Genetic alterations conferring a selective advantage in

95 of the activating NK-cell receptor DNAM-1, a genetic alteration consistently found in MS-association

96 Additionally, MIRMMR highlights those genetic alterations contributing to microsatellite insta

97 Here, we review how genetic alterations define subclasses of patients with a

98 nother 3 cases, MRD clonal PCs displayed all genetic alterations detected at diagnosis plus additiona

99 ith HPV infection, little is known about the genetic alterations determining the development of penil

100 tumors, show high concordance with specific genetic alterations, disease risk factors and patient ou

101 Genetic alterations disrupting the transcription factor

102 poorly understood, and previously determined genetic alterations do not explain the majority of trans

103 Although genetic alterations dominate the way cancer biologists t

104 yperactivated Wnt signaling due to recurrent genetic alterations drives several human cancers.

105 n found to contain a large number of de novo genetic alterations due to DNA damage response during re

106 Finally, we show that autism-associated genetic alterations entail the engagement of atypical fu

107 on analysis linking the cancer metabolome to genetic alterations, epigenetic features and gene depend

108 Whether metastasis-specific genetic alterations exist remains controversial.

109 BL, highlights the importance of distinctive genetic alterations for disease taxonomy with relevance

110 The most common genetic alterations for familial thoracic aortic aneurys

111 No causative genetic alterations for SPONASTRIME dysplasia have yet b

112 4 and MAP2K1 mutations are the most frequent genetic alterations found in PTFL and occur independentl

113 as a powerful tool to elucidate the role of genetic alterations found in recent studies in their tim

114 cell and could be efficiently applied to any genetic alterations from various genomes, including thos

115 enetically mature entity whereby most driver genetic alterations have already occurred, which suggest

116 cancer in men and multiple risk factors and genetic alterations have been described.

117 Analyses of genetic alterations have identified those that might be

118 The identification of these genetic alterations holds the potential to direct geneti

119 The overwhelming number of genetic alterations identified through cancer genome seq

120 Even in the absence of known genetic alterations, immune dysregulation has been shown

121 CASZ1 activity, due to RAS-MEK signaling or genetic alteration, impairs ERMS differentiation, contri

122 mutation in EZH1 is the second most frequent genetic alteration in ATAs.

123 meric gene Titin are the most common type of genetic alteration in dilated cardiomyopathy.

124 IDH1 mutation is the earliest genetic alteration in low-grade gliomas (LGGs), but its

125 congenital color deficiency resulting from a genetic alteration in the photopigments of the eye's lig

126 is to dissect the relative timing of somatic genetic alterations in 63 colorectal cancers with whole-

127 quencing (CGS) enables us to detect numerous genetic alterations in a single assay.

128 ars, providing us with detailed knowledge of genetic alterations in almost all cancer types.

129 Genetic alterations in ASM lead to ASM deficiency (ASMD)

130 Genetic alterations in at least two out of four genes we

131 Cancer is characterized by diverse genetic alterations in both germline and somatic genomes

132 rmance of this assay for evaluating specific genetic alterations in both normal and cancer reference

133 Genetic alterations in BRAF, NRAS and NF1 that activate

134 We discuss how some of these genetic alterations in brain tumors rewire metabolism.

135 how transcriptional control is disrupted by genetic alterations in cancer cells, why transcriptional

136 The pattern of genetic alterations in cancer driver genes in patients w

137 stability of the genome by the prevention of genetic alterations in cells but also plays a role in re

138 ty, in tumor progression and metastasis, its genetic alterations in certain subtype of melanocytic le

139 to fully elucidate the landscape of germline genetic alterations in children with WT.

140 ingle-cell sequencing and identify prevalent genetic alterations in colorectal cancer stromal cell po

141 oncogenes BRAF and NRas are the most common genetic alterations in cutaneous melanoma.

142 um brought us terabytes of information about genetic alterations in different types of human tumors.

143 acetyltransferases are among the most common genetic alterations in diffuse large B cell lymphoma (DL

144 The clinical significance of MYC and BCL2 genetic alterations in diffuse large B-cell lymphoma (DL

145 hese studies identify unique combinations of genetic alterations in discrete LBCL subtypes and subtyp

146 ing of the prevalence and causes of specific genetic alterations in DLBCL and their role in disease d

147 10 years, these studies have identified many genetic alterations in DLBCL, some of which are specific

148 most retinoblastomas reemerged without clear genetic alterations in either Mycn or known Mycn targets

149 We tested whether genetic alterations in endocannabinoid signaling related

150 r-dependent genomic signaling is affected by genetic alterations in endocrine therapy resistance.

151 of OSCC is mainly due to the accumulation of genetic alterations in epithelial cells, but the underly

152 atients with advanced solid tumors harboring genetic alterations in fibroblast growth factor receptor

153 Genetic alterations in hK(2P)17.1 were associated with c

154 Recent reports have characterized the genetic alterations in HNSCC and demonstrated that mutat

155 ation and mutation are among the most common genetic alterations in human HNSCC.

156 KRAS mutations are among the most common genetic alterations in lung, colorectal, and pancreatic

157 We showed that molecular genetic alterations in membrane lipid composition result

158 pared to tumorigenesis, it is yet unclear if genetic alterations in metabolic pathways are associated

159 Here the authors characterize diverse genetic alterations in MIBC that convergently lead to co

160 a majority of primary DLBCL tumors displayed genetic alterations in multiple regulators.

161 factors are the single most common class of genetic alterations in myelodysplastic syndrome (MDS) pa

162 e effective in patients with MPNST harboring genetic alterations in NF1.

163 these findings describe a mechanism by which genetic alterations in noncoding gene regions may result

164 ovide insights into the number and nature of genetic alterations in normal tissues and can be used to

165 evelopment in colorectal cancer is driven by genetic alterations in numerous signaling pathways.

166 criptional programs associated with specific genetic alterations in oncogenes and tumor suppressors a

167 concentrations in mice bearing Cre-dependent genetic alterations in other compartments (epithelial or

168 ctivating mutations in KRAS are the hallmark genetic alterations in pancreatic ductal adenocarcinoma

169 and links clinical outcomes to co-occurring genetic alterations in patients with advanced-stage EGFR

170 pies such as cetuximab are in part caused by genetic alterations in patients with oral squamous cell

171 The recurrent genetic alterations in PDAC are yet to be targeted.

172 of agents that are able to target the common genetic alterations in PDAC.

173 pproximately 30% of TCGA breast cancers have genetic alterations in PolqSL genes and exhibit genomic

174 However, the biological role of these dual genetic alterations in prostate tumorigenesis is largely

175 IPER to evaluate the functional relevance of genetic alterations in regulatory proteins across all sa

176 nt can influence tumor progression; however, genetic alterations in stromal cell populations remain l

177 e data indicate that human cancer-associated genetic alterations in the FEN1 gene can contribute subs

178 gulation can arise due to genetic and/or non-genetic alterations in the genome.

179 ave shown that MWCNT cause biomechanical and genetic alterations in the lung tissue which lead to lun

180 Importantly, genetic alterations in the most extensively rewired PPIN

181 rade gliomas (pLGG) are frequently driven by genetic alterations in the RAS-mitogen-activated protein

182 However, genetic alterations in the RB-regulated E2F family of tr

183 To identify contributory, secondary genetic alterations in these cancers, we used comprehens

184 en stabilizing and destabilizing forces, and genetic alterations in these mechanisms provide one expl

185 what we have learned from mouse studies with genetic alterations in these proteins.

186 plain the depression-obesity link, including genetics, alterations in systems involved in homeostatic

187 Actionable genetic alterations included 25 EGFR mutations, 5 BRAF m

188 esults revealed no significant difference in genetic alterations including common oncogenic mutations

189 Other genetic alterations including iAMP21, IKZF1 deletions, E

190 The RNA-seq analysis also highlighted genetic alterations, including mutations, gene fusions,

191 Pathologically, genetic alterations, including SETDB1 amplification, abe

192 Genetic alterations initiate tumors and enable the evolu

193 However, the presence of a particular genetic alteration is often insufficient to predict ther

194 The identification of cancer-promoting genetic alterations is challenging particularly in highl

195 Rationale: The characterization of new genetic alterations is essential to assign effective per

196 s low-grade forms driven by distinct sets of genetic alterations is germane to the successful impleme

197 ledge of the functional consequences of many genetic alterations lags, investigators and sponsors str

198 Identification of clinically relevant genetic alterations leading to CRPC may reveal potential

199 al Hodgkin lymphoma (HL) frequently exhibits genetic alterations leading to overexpression of the pro

200 Cancer cells with specific genetic alterations may be highly dependent on certain n

201 Despite harboring the same genetic alterations, mesenchymal-like tumor cells are re

202 a heterogeneous group of tumors with various genetic alterations, molecular features, and risks of ma

203 SCLC; arm 1) or other solid tumors with FGFR genetic alterations (mutations/amplifications/fusions) r

204 We observed that most of the genetic alterations necessary for progression have alrea

205 nase genes IDH1 and IDH2 are among the first genetic alterations observed during the development of l

206 Based on the profile of genetic alterations occurring in tumor samples from sele

207 editing, there is no evidence of success in genetic alteration of Ag-experienced memory CD8 T cells.

208 Genetic alteration of ENaC-alpha causes aldosterone dysr

209 Importantly, genetic alteration of OCT2 is not a requirement for cell

210 Mouse and dHL-60 cells bearing genetic alteration of PAD4 showed that chromatin deconde

211 Genetic alterations of 9p24.1 are infrequent in DLBCL.

212 efficacy and safety of nivolumab as well as genetic alterations of 9p24.1.

213 The subtypes characterized by genetic alterations of BCL2, NOTCH2, and MYD88 recapitul

214 ncer medicine seeks to target the underlying genetic alterations of cancer; however, it has been chal

215 ell survival and altering cell polarity) for genetic alterations of CTCF in endometrial cancer.

216 Genetic alterations of EGFR are observed in ~50% of glio

217 However, there is scarce evidence for genetic alterations of endocytic proteins as causative i

218 In this study, we found that genetic alterations of FBW7, an E3 ubiquitin ligase and

219 k to explore the effect of environmental and genetic alterations of individual cells at the populatio

220 Recently, recurrent genetic alterations of potential importance for its path

221 Our study provides definitive evidence that genetic alterations of SUGP1 genocopy SF3B1 mutations in

222 Genetic alterations of TET2 occur in myeloid malignancie

223 High-grade tumors harbored genetic alterations of TP53 and CDKN2A, frequent mutatio

224 engthening of Telomere, and were enriched in genetic alterations of transcription/chromatin regulatio

225 ed understanding of the functional impact of genetic alterations on biological processes.

226 ts the impact of nutritional environment and genetic alterations on histone acetylation.

227 le unit to delineate the impact of noncoding genetic alterations on single genes in cancer.

228 d in breast cancer, but the effects of these genetic alterations on the proteomic landscape remain po

229 oradic ALL have revealed a growing number of genetic alterations or conditions that predispose indivi

230 hich can be used to understand the impact of genetic alterations or to screen the efficacy of chemoth

231 A prognostic model comprising these genetic alterations outperformed current established cel

232 ctional characterization of identified (epi-)genetic alterations over the past decade, the clinical i

233 ECM inputs, pharmacological perturbations or genetic alterations, particularly a loss of PTEN in aggr

234 Understanding the mechanisms by which genetic alterations perturb epigenetic and transcription

235 characteristics link the signature molecular genetic alterations present in individuals with CADASIL

236 ies, but their B-cell defects and underlying genetic alterations remain largely unknown.

237 ctions, has prompted investigations into the genetic alterations required for cross-species transmiss

238 o allows for the revelation of the series of genetic alterations required to acquire the new phenotyp

239 side the genomic boundaries of a given (epi-)genetic alteration, respectively.

240 ing pre-existing tumorigenic mutation(s) and genetic alteration(s).

241 Several genetic alterations seemed to segregate by histology.

242 a Shank3-deficient rat model of PMS, with a genetic alteration similar to a human SHANK3 mutation.

243 report a comprehensive analysis of recurrent genetic alterations -somatic mutations, somatic copy num

244 nary processes driven by the accumulation of genetic alterations, some of which confer selective fitn

245 model that faithfully recapitulates a DISC1 genetic alteration strongly associated with schizophreni

246 In addition to genetic alterations such as EGFR secondary mutation caus

247 with menadione or rotenone and expression of genetic alterations, such as knocking down the MIA40 oxi

248 rge B-cell lymphomas that carry inactivating genetic alterations targeting the FBXO11 gene.

249 features, viral infection status, and cancer genetic alterations than other computational approaches.

250 e rounds of H2O2 treatments, we identified a genetic alteration that resulted in improved H2O2 tolera

251 Ph-like ALL is driven by genetic alterations that activate constitutive cytokine

252 Genetic alterations that activate NOTCH1 signaling and T

253 thetic chromosome, was developed to identify genetic alterations that affect cell fitness ("bugs").

254 Genetic alterations that are common to all HNSCC types a

255 RD clonal PCs, but also a selected number of genetic alterations that became apparent only at the MRD

256 unique mutational profiles for cyst type and genetic alterations that coincide with the development o

257 Although researchers have identified genetic alterations that contribute to development of es

258 velopment are hijacked in B-cell lymphoma by genetic alterations that directly or indirectly change t

259 Drugs designed to target the genetic alterations that drive cancer have improved the

260 the activated B-cell-like (ABC) subtype and genetic alterations that drive constitutive NF-kappaB ac

261 haracterized by an inflammatory environment, genetic alterations that facilitate escape from immune a

262 Cancer arises from genetic alterations that invariably lead to dysregulated

263 ave emerged: an intrinsic pathway, driven by genetic alterations that lead to neoplasia and inflammat

264 an unbiased pan-cancer analysis to identify genetic alterations that lead to the same aberrant splic

265 the remarkable heterogeneity in the types of genetic alterations that likely drive the growth of pedi

266 ndreds to thousands of biologically relevant genetic alterations that manifest as intratumor heteroge

267 h as the brain are prone to stochastic (epi-)genetic alterations that may cause increased variability

268 We review the cellular and genetic alterations that occur during progression of Bar

269 either BCL6 or MYC, we identify co-operating genetic alterations that promote growth or even full tra

270 Genetic alterations that range from chromosome imbalance

271 es have yielded important insights about the genetic alterations that underlie pancreatic tumorigenes

272 We set out to identify genetic alterations that underlie recurrent/metastatic H

273 Of the 23 unique pairs of genetic alterations that we interrogated, 9 were able to

274 ing of the same patient specimens identified genetic alterations that were then integrated with the f

275 nature of human lupus by embodying three key genetic alterations: the Sle1 interval leading to anti-c

276 cts of diverse selective pressures including genetic alterations, therapeutic interventions, heteroce

277 Because of the stochastic nature of genetic alterations, this intratumoral heterogeneity is

278 d on a homing mechanism could rapidly spread genetic alterations through a population.

279 directions toward yield improvement through genetic alterations to physiology to increase varepsilon

280 histologic subtypes (many with well-defined genetic alterations) to best fit diagnosis to therapy.

281 m directly into HCC cells (via a sequence of genetic alterations), to dedifferentiate into hepatocyte

282 DOs recapitulate tumor histology and contain genetic alterations typical of pancreatic cancer.

283 rovide insights into the spectrum of various genetic alterations underlying ICI resistance, together

284 We retrospectively investigated genetic alterations using CGS of a 415-gene panel.

285 In this study, we profiled MYC and BCL2 genetic alterations using next-generation sequencing and

286 The specificity based only on genetic alterations was 84%, compared to 77% specificity

287 Clinicopathological variables and genetic alterations were analyzed to identify independen

288 In FNAs, genetic alterations were detected in 19/44 malignant sam

289 r [EGFR] or anaplastic lymphoma kinase [ALK] genetic alterations were excluded).

290 In 8 PTFL cases (19%), no genetic alterations were identified beyond IG monoclonal

291 h variations in gene expression profiles and genetic alterations, which lead to substantial variation

292 Cancer is driven by multiple types of genetic alterations, which range in size from point muta

293 ogy malignant samples were found to harbor a genetic alteration, while 15/75 (20%) of benign samples

294 53 alterations (frequency, 8%) were the only genetic alteration with independent prognostic value in

295 By combining early genetic alterations with disease-relevant exposures, we

296 Furthermore, the combination of BCL2 genetic alterations with IPI identifies markedly worse p

297 es of renal cancer characterized by specific genetic alterations, with type 2 further classified into

298 A large fraction of human cancers contain genetic alterations within the Mitogen Activated Protein

299 tive activity in cancer cell lines harboring genetic alterations within the PTEN, PI3K, and RAS signa

300 upled spatiotemporal regulation of different genetic alterations within the same mouse, thus better r