ライフサイエンスコーパス: mutated gene

1 n all the analysed scans irrespective of the mutated gene.

2 to tandem nucleotide repeat expansion in the mutated gene.

3 NPHS2 was the most common mutated gene.

4 of detected cryptic variants depended on the mutated gene.

5 enes tested and TP53 was the most frequently mutated gene.

6 reached by phenotypic clues pointing to the mutated gene.

7 wild type CEACAM1-SF compared with the T457A-mutated gene.

8 (11/16) failure in cases with more than one mutated gene.

9 by low mutational burden and few recurrently mutated genes.

10 ared with pediatric-mBL, but shared commonly mutated genes.

11 ary transgenic plants having as many as five mutated genes.

12 ecovered from non-immunoglobulin somatically mutated genes.

13 stic fibrosis (CF), require inheritance of 2 mutated genes.

14 ide of these previously reported recurrently mutated genes.

15 lations defined by different combinations of mutated genes.

16 haring only one of their 15 most recurrently mutated genes.

17 identified 517 somatic mutations across 490 mutated genes.

18 sages, suggesting functional compensation of mutated genes.

19 lap with previously identified Significantly Mutated Genes.

20 essor gene targets and 50 with significantly mutated genes.

21 is of exome data identified 26 significantly mutated genes.

22 se-causing genes or the repair of endogenous mutated genes.

23 S-PA; TET2 and NRAS were the most frequently mutated genes.

24 rculating tumor DNA (ctDNA) in CSF to detect mutated genes.

25 tic disorders by restoring the expression of mutated genes.

26 g an unprecedented view of the impact of the mutated genes.

27 pectrum, and provides accurate prevalence of mutated genes.

28 nsights into potential consequences of these mutated genes.

29 To interrogate the functional impact of mutated genes, a pooled in vivo CRISPR screening approac

30 TP53 is the most frequently mutated gene across human cancers.

31 ns per patient, as well as a set of commonly mutated genes across multiple patients.

32 morigenesis from a potentially large pool of mutated genes across patient samples.

33 odes the p53 protein) is the most frequently mutated gene among all human cancers, whereas tumors tha

34 encodes p53 protein) is the most frequently mutated gene among all human cancers.

35 ed in fibroblasts carrying the corresponding mutated gene and expression of the STT3A (p.Val626Ala) a

36 n Lynch syndrome could be risk stratified by mutated gene and mutation type in tailored surveillance

37 d show an unexpected correlation between the mutated gene and the associated phenotype.

38 To determine whether mutated gene and type of mutation influence age at onset

39 Here we identify 44 recurrently mutated genes and 11 recurrent somatic copy number varia

40 to disentangle the effect of 12 recurrently mutated genes and 4 cytogenetic alterations on gene expr

41 We identified recurrently mutated genes and assessed clonal structure using whole-

42 Distribution of recurrently mutated genes and clonal architecture differed among MDS

43 , we identified additional novel recurrently mutated genes and confirmed mutations of one or more chr

44 a (MM) patients and identified significantly mutated genes and copy number alterations and discovered

45 ategy for complex diseases with a variety of mutated genes and heterogeneous phenotypic manifestation

46 altered pathways, with associations between mutated genes and pathways, and stage or subtype of T-AL

47 t also other factors such as the function of mutated genes and residual activities of mutant alleles.

48 At present, we only have partial data on mutated genes and their phenotypes, gene expression, and

49 Identifying these mutated genes and understanding how they cooperate requi

50 ter transcriptional regulators, functionally mutated genes, and differentially activated kinases in C

51 ches that are used to identify significantly mutated genes, and discuss the emerging biological and c

52 Significantly mutated genes are BRAF, NRAS, NF1, NOTCH2, PTEN and TYRP

53 The most commonly mutated genes are DNMT3A, TET2, TP53, ASXL1 and PPM1D.

54 The most frequently mutated genes are H3F3A, PHF6, ATRX, KDM6A, SMARCA4, ASX

55 rent cancer patients while assuming that the mutated genes are likely to belong to the same pathway a

56 Significantly mutated genes are NRAS, BRAF, NF1, KIT, SF3B1, TP53, SPR

57 EGS consisting of TP53 and four infrequently mutated genes (ARID1A, AKT1, MED23, and TBL1XR1), provid

58 We identify several novel mutated genes as well as complex rearrangements of signa

59 significant correlations between recurrently mutated genes, as well as genotype-phenotype association

60 min A/C (LMNA) is one of the most frequently mutated genes associated with dilated cardiomyopathy (DC

61 d one or two copies of ataxia-telangiectasia mutated gene (Atm; KPA(FL/+) or KPA(FL/FL)), whereas ade

62 finding similar copy number aberrations and mutated genes based on coding mutations as previous stud

63 e that chaotic behavior in the sequence of a mutated gene can be predicted.

64 d the identification of a set of recurrently mutated genes central to the pathogenesis of MDS, which

65 OMIM AD mutated genes converged on cytoskeletal mechanisms, auti

66 that dominantly altered the function of the mutated gene copy.

67 Among all somatically mutated genes, CREBBP mutations were most significantly

68 nscriptions factors were among the validated mutated genes critical for cell proliferation and surviv

69 The distinct sets of mutated genes derived here show substantial prognostic p

70 This study expands the number of mutated genes described in several known signaling pathw

71 Many of these mutated genes displayed consistent up-regulated signatur

72 Alleles that fail to transcribe the mutated gene do not exhibit transcriptional adaptation,

73 patients, that, in addition to low-frequency mutated genes (eg, AXIN1, ARID2, ARID1A, TSC1/TSC2, RPS6

74 arcinoma (ccRCC), three of the five commonly mutated genes encode the chromatin regulators PBRM1, SET

75 eosomal protein SF3B1 is the most frequently mutated gene encoding a splicing factor in a variety of

76 We studied functional replacement of the mutated gene encoding survival motor neuron 1 (SMN1) in

77 n D1 (CCND1), and the tumor suppressor TP53; mutated genes encoding the anti-apoptotic protein BIRC3

78 etic interaction burden on the significantly mutated genes, experimentally validated cancer genes, ch

79 (KRAS, NRAS and HRAS) is the most frequently mutated gene family in cancers, and, consequently, inves

80 ee RAS oncogenes make up the most frequently mutated gene family in human cancer.

81 Within specific mutated genes, frequency, mutation hotspot residues, in

82 Analysis of seven commonly mutated genes from 178 studies in cBioPortal revealed th

83 l distribution with substantial variation of mutated genes from patient to patient and also between p

84 d data sets, we identified 127 significantly mutated genes from well-known (for example, mitogen-acti

85 Gene therapy to correct the mutated gene has shown promise in both animal models and

86 Commonly-mutated genes have been found for many cancers, but less

87 Although mutated genes have been studied extensively, their chaot

88 Repeatedly mutated genes identified by tNGS were KDR with different

89 Mutated genes identified in this study can be potentiall

90 ucleophosmin-1 (NPM1) is the most frequently mutated gene in acute myeloid leukemia (AML).

91 Nucleophosmin (NPM1) is the most commonly mutated gene in acute myeloid leukemia (AML).

92 NPM1 is the most frequently mutated gene in acute myeloid leukemia; mutations map to

93 The Trp53 gene is the most frequently mutated gene in all human cancers.

94 Despite the expression of the mutated gene in all muscles, selective muscles are invol

95 suggesting that CEBPZ is a novel recurrently mutated gene in AML.

96 umours, and SERPINI1 was the most frequently mutated gene in BMs.

97 TP53 is the most frequently mutated gene in breast cancer, but its role in survival

98 or protein p53 (TP53) is the most frequently mutated gene in cancer(1,2).

99 TP53 is the most frequently mutated gene in cancer, yet these mutations remain thera

100 transferase 3A (DNMT3A) is the most commonly mutated gene in clonal hematopoiesis (CH).

101 TP53 was the only mutated gene in common between both patients and was pre

102 and protein stability of NRAS, a frequently mutated gene in ERMS.

103 repeat kinase 2 (LRRK2) is the most commonly mutated gene in familial Parkinson's disease(1) and is a

104 GNA13 is the most frequently mutated gene in germinal center (GC)-derived B-cell lymp

105 nd identify CDNK1B as the second most common mutated gene in HCL.

106 quitin ligase parkin, is the most frequently mutated gene in hereditary Parkinson's disease.

107 p53 is the most frequently mutated gene in human cancer, and over half of human can

108 echanisms by which TP53, the most frequently mutated gene in human cancer, suppresses tumorigenesis r

109 and have confirmed TP53 as the most commonly mutated gene in human cancer.

110 TP53 is the most frequently mutated gene in human cancer.

111 tumour suppressor p53 is the most frequently mutated gene in human cancer.

112 tumor suppressor p53, is the most frequently mutated gene in human cancer.

113 p53 is the most frequently mutated gene in human cancers and mutant p53 has a gain

114 TP53 is the most frequently mutated gene in human cancers, and despite intensive res

115 The TP53 gene is the most frequently mutated gene in human cancers, and the majority of TP53

116 Although TP53 is the most commonly mutated gene in human cancers, the p53-dependent transcr

117 tumor suppressor p53 has the most frequently mutated gene in human cancers.

118 ss and represents the most commonly lost and mutated gene in human cancers.

119 nd this may be why TP53 is the most commonly mutated gene in human cancers.

120 r p53 has been found to be the most commonly mutated gene in human cancers; however, the frequency of

121 gth human PRSS1R122H gene, the most commonly mutated gene in human HP, into mice.

122 (TF) and was recently identified as a novel mutated gene in human luminal breast cancers.

123 The most commonly mutated gene in JBTS patients with a cerebello-retinal-r

124 PIK3CA is the most frequently mutated gene in luminal BC (35%); however, the effect of

125 is a serine/threonine kinase and a commonly mutated gene in lung adenocarcinoma.

126 ne kinase (BRAF) gene is the most frequently mutated gene in malignant melanoma (MM) and papillary th

127 gulator of RAS, as the third most frequently mutated gene in melanoma, after BRAF and NRAS.

128 BRAF is the most mutated gene in melanoma, with approximately 50% of pati

129 ighted that DCC is the third most frequently mutated gene in melanoma; we therefore investigated whet

130 The most commonly mutated gene in our cohort, IGLL5, shows a mutational pa

131 KRAS is the most commonly mutated gene in pancreatic cancer, but clinical agents t

132 KRAS is the most frequently mutated gene in pancreatic ductal adenocarcinoma (PDAC),

133 The most frequently mutated gene in PCD, DNAH5 is associated with randomizat

134 correlated robustly with the presence of the mutated gene in pre-HD and HD.

135 Here, we show that SPOP, the most commonly mutated gene in primary prostate cancer modulates DNA do

136 The most commonly mutated gene in PTNFL was MAP2K1, encoding MEK1, with a

137 The second most commonly mutated gene in PTNFL was TNFRSF14, with a mutation freq

138 CDK12 is a recurrently mutated gene in serous ovarian carcinoma, whose downregu

139 24.4 months ) in patients with at least one mutated gene in their tumors (P < .001).

140 TYR was the most commonly mutated gene in this cohort (75% of patients, 9/12).

141 ion genes (IGHVs), being the most frequently mutated gene in this prognostic subgroup.

142 h two or three members, the most prevalently mutated gene in tumor samples employs a differential cod

143 Screening of recurrently mutated genes in 48 additional FR-CLLs revealed that ~70

144 g regions or hotspot areas of 68 recurrently mutated genes in a cohort of 664 patients aged 18 to 86

145 3A has emerged as one of the most frequently mutated genes in adult myeloid as well as lymphoid malig

146 showed that TP53 and PI3KCA are the two most mutated genes in all types of cancers and that 30-70% of

147 been made in understanding the role of these mutated genes in AML disease pathogenesis, to date relat

148 , error-corrected sequencing for 13 commonly mutated genes in AML was performed on preconditioning bl

149 argeted sequencing to validate significantly mutated genes in an additional 112 cancers.

150 remodeler CHD8 is among the most frequently mutated genes in autism spectrum disorder (ASD).

151 s identify STAG2 as one of the most commonly mutated genes in bladder cancer.

152 GATA3 is one of the most frequently mutated genes in breast cancer and is capable of specify

153 PIK3CA is one of the two most frequently mutated genes in breast cancers, occurring in 30-40% of

154 TP53 is one of the most frequently mutated genes in breast cancers.

155 The number of mutated genes in cancer cells is far larger than the num

156 TP53 is one of the most commonly mutated genes in cancer.

157 PI3K is one of the most frequently mutated genes in cancers and has been the target of nume

158 The most commonly mutated genes in cases with CHIP were TET2 (three [38%]

159 -cell-targeted sequencing of MDS recurrently mutated genes in CD34+ progenitors (and dysplastic linea

160 mutations in Tet2, one of the most commonly mutated genes in CH, have an enhanced inflammatory respo

161 n remodeler CHD2, one of the most frequently mutated genes in CLL (5.3%) and in monoclonal B lymphocy

162 Silencing 4 of 8 mutated genes in CLL samples harboring the mutated allel

163 icate that RNF43 is one of the most commonly mutated genes in colorectal and endometrial cancers.

164 oadly measure mutated alleles of recurrently mutated genes in CR marrows of AML patients at levels as

165 T3, DNMT3A, and NPM1 are the most frequently mutated genes in cytogenetically normal acute myeloid le

166 Unexpectedly, the majority of recurrently mutated genes in EAC were also mutated in NDBE.

167 t the identification of 15 novel recurrently mutated genes in FL.

168 2D has emerged as one of the most frequently mutated genes in follicular lymphoma and diffuse large B

169 or gene and RAS-GTPase, is one of the highly mutated genes in GBM.

170 IT and/or NRAS mutation, known as frequently mutated genes in GCTs, in 3/12 (25%) patients.

171 ) receptor gene is among the most frequently mutated genes in germinal center lymphomas.

172 transferase 3A, is among the most frequently mutated genes in hematologic malignancies.

173 applications aimed at functionally restoring mutated genes in hematopoietic stem cells.

174 enomatous polyposis coli (Apc), two commonly mutated genes in hepatocellular carcinoma (HCC), to gene

175 luding Raf-MAPK, and are the most frequently mutated genes in human cancer.

176 proto-oncogenes are among the most commonly mutated genes in human cancers and predict poor clinical

177 TP53 is one of the most commonly mutated genes in human cancers.

178 encodes Fbw7, is one of the most frequently mutated genes in human cancers.

179 (W dr62), orthologs of the two most commonly mutated genes in human microcephaly patients.

180 ing studies have identified many recurrently mutated genes in human SCLC tumors.

181 K- and H-Ras are the most commonly mutated genes in human tumors and are critical for confe

182 luded PIK3CA, one of the two most frequently mutated genes in IDC, and miRNAs such as hsa-miR-328, hs

183 Pathway analyses of all mutated genes in liver metastases showed aberrant tumor

184 , p53, and LKB1, the top three significantly mutated genes in lung adenocarcinoma.

185 Frequently mutated genes in malignant samples included BRAF (20/76,

186 Differences in the frequency of mutated genes in MDS and secondary AML indicate that the

187 published data sets reveals 24 significantly mutated genes in microsatellite stable (MSS) tumours and

188 FAM46C is one of the most recurrently mutated genes in multiple myeloma; however its role in d

189 Recurrently mutated genes in myelodysplastic syndrome (MDS) are path

190 HSCT for somatic mutations in 34 recurrently mutated genes in myeloid neoplasms.

191 1 (LKB1/STK11) is one of the most frequently mutated genes in non-small cell lung cancer (NSCLC) and

192 and nucleotide variance of commonly observed mutated genes in non-small cell lung cancer, and their w

193 ows us to identify a number of significantly mutated genes in NSCLC, which were highly enriched in DN

194 ically acquired mutations in three recurrent mutated genes in OAC: TP53, ABCB1 and SEMA5A, not presen

195 mely, MLL2, as one of the most significantly mutated genes in our screen.

196 We identify multiple novel mutated genes in PDA, with select genes harbouring progn

197 We identified ten significantly mutated genes in pRCC, including MET, NF2, SLC5A3, PNKD

198 TP53 are two of the most commonly deleted or mutated genes in prostate cancer, the compound loss of w

199 The four most commonly mutated genes in RCC of clear-cell type (the most common

200 The most commonly mutated genes in the affected patients were TP53 (in 50

201 Protein kinases are the most frequently mutated genes in the cancer genome, making them attracti

202 Screening for recurrently mutated genes in the mononuclear cell fraction revealed

203 utoimmune disease are encoded by somatically mutated genes in the patients' incipient cancers.

204 TP53, KRAS, MAP2K1 and MET as significantly mutated genes in the pre/minimally invasive group.

205 eoantigens--derived from products encoded by mutated genes in the tumor--is mostly limited to tumor-r

206 prediction, unbiased in vivo analyses of the mutated genes in zebrafish, and expression analyses in z

207 dies have identified a number of recurrently mutated genes; in order of descending frequency these in

208 Mutated genes include the cyclin-dependent kinases CDKA

209 Significantly mutated genes included BRAF, CDKN2A, NRAS and TP53 in cu

210 New significantly mutated genes included PPP3CA, DOT1L, and FTSJD1 in lung

211 Pathways with frequently mutated genes included those of cell-cell adhesion/Wnt/H

212 iger A1 and L2, A. niger H915-1 contained 92 mutated genes, including a succinate-semialdehyde dehydr

213 We identified 25 significantly mutated genes, including known drivers such as ataxia-te

214 While ICC and HCC share recurrently mutated genes, including TP53, ARID1A, and ARID2, mitoti

215 We identified 20 significantly mutated genes, including TP53, CDH10, NFE2L2 and PTEN.

216 Reprogramming diseased cells with mutated genes into induced pluripotent stem cells (iPSCs

217 The mutated genes involved in cavefish vestigial eye formati

218 We identified 15 significantly mutated genes: IRF4, KRAS, NRAS, MAX, HIST1H1E, RB1, EGR

219 observed when a mixture of a wild-type and a mutated gene is analyzed by the sensor array.

220 The most frequently mutated gene is SF3B1, mutated in 17% of MDS patients.

221 hese analyses, particularly for infrequently mutated genes, is compromised when subjects carry differ

222 The mutated genes lack obvious relationships to each other,

223 e function of Tet2, the second most commonly mutated gene linked to clonal hematopoiesis, in the hema

224 Finally, multiple novel mutated genes located within regions of acquired unipare

225 mutational signature and nine significantly mutated genes, many of which have not been implicated pr

226 Genome editing of the mutated gene may be envisaged as an alternative strategy

227 ather than methods that identify recurrently mutated genes, may uncover new biologically and therapeu

228 Mutated gene (MLH1, MSH2, MSH6, and/or PMS2) and type of

229 We found that PRKN was the most frequently mutated gene (n = 83, 4.95%) and present the first evide

230 herapy failure correlated with the number of mutated genes: no failure in cases with no mutations (0/

231 However, the impact of non-significantly mutated genes (non-SMGs), which may also play important

232 Among the several significantly mutated genes not previously linked to GBC are ETS domai

233 is a recessive genetic disorder (ATM is the mutated gene) of childhood with severe motor impairments

234 Moreover, for infrequently mutated genes often disregarded by current methods, we d

235 ic disorders by either creating a PTC in the mutated gene or introducing a transgene containing a PTC

236 %), TP53 (26%) and SOX8 (19%), a recurrently-mutated gene previously unreported in EnOC.

237 tumor suppressor TP53 is the most frequently mutated gene product in human cancer.

238 rapeutic interventions, targeting either the mutated gene product or the associated molecular pathway

239 Increasing evidence points to mutated gene products as the primary immunological targe

240 more than 70 distinct loci and more than 50 mutated gene products have been identified in patients w

241 nize potent antigens that presumably include mutated gene products, we developed a new screening appr

242 The significantly mutated genes (q <= 0.01) were PIK3CA (28% of patients),

243 ions in these genes, indicating that further mutated genes remain to be identified.

244 -driving genes from thousands of recurrently mutated genes remains a significant challenge.

245 the transsulfuration pathway, as one of the mutated genes responsible for eye degeneration in multip

246 Gene ontology analysis of mutated genes revealed many biological processes, includ

247 typically by disrupting transcription of the mutated gene, RNA toxic gain of function, and protein to

248 es that exhibit sequence similarity with the mutated gene's mRNA, suggesting a sequence-dependent mec

249 eno-associated virus serotype 2 carrying the mutated gene (scAAV2.dnRhoA) and assessed its function i

250 Surprisingly, the mutated gene, SEC24A, encodes a coat protein complex II

251 Precision targeting of mutated gene sets eradicated a large fraction of establi

252 orts had been made to identify significantly mutated genes (SMGs) in ECs and use them as biomarkers f

253 ift mutations in the TGFBR2 gene because the mutated gene still expresses a functional protein.

254 We identified previously uncharacterized mutated genes such as FAT1, FAT2, ZNF750 and KMT2D, in a

255 cules (amiRNAs) to specifically target point-mutated genes, such as KRAS, without affecting their wil

256 ions between EECTGs and somatic mutations in mutated genes, such as PIK3CA in breast cancer.

257 FLT3 is a frequently mutated gene that is highly associated with a poor progn

258 al adenocarcinomas identified 32 recurrently mutated genes that aggregate into 10 pathways: KRAS, TGF

259 have allowed for the identification of many mutated genes that appear to drive disease pathogenesis

260 rognosis in SM are related to the pattern of mutated genes that are acquired during disease evolution

261 alleles are found to be expressed, and among mutated genes that are expressed, there often is allele-

262 4 T2 and 225 T8 genes, including four highly mutated genes that are functionally related to the targe

263 cing (WES) of 47 tumors revealed recurrently mutated genes that included KDR, TP53, and PIK3CA.

264 ly mutated, in contrast to many infrequently mutated genes that may also contribute to tumor biology.

265 malignancies identified several recurrently mutated genes that may be disease initiators.

266 We identified recurrently mutated genes that showed positive association with cyto

267 We identified multiple mutated genes that, combined, implicate chromatin deregu

268 range and nature of infections depend on the mutated gene, the deleteriousness of the mutation, and o

269 Finally, mutated genes themselves hold promise as therapeutic tar

270 of mutation-related phenotypes, within each mutated gene there is an associated predominant pattern

271 We mapped the mutated gene to a 122 kb region at 17q25.3 through ident

272 gether with sequence analysis of recurrently mutated genes to characterize paired AML genomes.

273 s for relating either individual variants or mutated genes to phenotypes present known limitations gi

274 We identify three other significantly mutated genes (TP53, RPL5 and CENPE).

275 e number of mutations in these significantly mutated genes varies across tumour types; most tumours h

276 The most frequently mutated gene was NFKBIE (21/315 cases; 7%), which encode

277 tients had an atypical presentation, and the mutated gene was often not clinically suspected.

278 Interestingly, the third most frequently mutated gene was UBR5, a gene encoding a 2799aa protein,

279 The spectrum of mutated genes was similar with the exception of SF3B1 wh

280 and focal adhesion, in which RHOA and other mutated genes we identified participate as key players.

281 Transformants carrying the mutated gene were more resistant to tebuconazole compare

282 Among the mutated genes were almost 200 COSMIC Cancer Gene Census

283 The most abundantly mutated genes were direct transcription regulators.

284 The mutated genes were enriched for genes functioning in tra

285 Recurrently mutated genes were investigated by targeted sequencing i

286 The most frequently mutated genes were NOTCH1, SF3B1, ATM, TP53, BIRC3, POT1

287 The most frequently mutated genes were NOTCH3, EIF2B5, AARS2 and CSF1R.

288 Twenty-one significantly mutated genes were shared among the groups.

289 ong the overall 801 HCC, the most frequently mutated genes were telomerase reverse transcriptase (TER

290 rWalker prioritizes well-known, infrequently mutated genes, which are shown to interact with highly r

291 y candidate genes, but finding unanticipated mutated genes will offer new insights into glycosylation

292 Correlation between frequently mutated genes with clinical behavior has been recently d

293 river genes and identifies new significantly mutated genes with highly plausible biological functions

294 ound EGFR and TP53 to be the most frequently mutated genes with mutations in 50% and 27% of individua

295 llow expression of full-length proteins from mutated genes with premature in-frame stop codons.

296 d by comparing the interconnectedness of the mutated genes with that of random gene sets.

297 equencing studies have not revealed commonly mutated genes with widespread relevance as potential the

298 TP53 was the most commonly mutated gene, with prevalence similar to that of sporadi

299 identified a very small number of additional mutated genes, with an average of 3.4 nonsilent coding,

300 re shown to interact with highly recurrently mutated genes yet have been ignored by conventional sing