ライフサイエンスコーパス: mutated gene

1 reached by phenotypic clues pointing to the mutated gene.

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

3 1 was found to be the second most frequently mutated gene.

4 to tandem nucleotide repeat expansion in the mutated gene.

5 ed by mutations in the ataxia telangiectasia mutated gene.

6 unctional interrogation of the most commonly mutated gene.

7 us containing ATM, the ataxia telangiectasia mutated gene.

8 NPHS2 was the most common mutated gene.

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

10 of detected cryptic variants depended on the mutated gene.

11 sages, suggesting functional compensation of mutated genes.

12 lap with previously identified Significantly Mutated Genes.

13 essor gene targets and 50 with significantly mutated genes.

14 is of exome data identified 26 significantly mutated genes.

15 uenced TMD/AMKL sample had other recurrently mutated genes.

16 ver genes, although enriched for recurrently mutated genes.

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

18 at least 1 somatic mutation in 9 recurrently mutated genes.

19 the basis of the phenotypes associated with mutated genes.

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

21 cription factor regulating amplified but not mutated genes.

22 ecovered from non-immunoglobulin somatically mutated genes.

23 ide of these previously reported recurrently mutated genes.

24 by low mutational burden and few recurrently mutated genes.

25 lations defined by different combinations of mutated genes.

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

27 identified 517 somatic mutations across 490 mutated genes.

28 factor c2-5 (Rfc2-5), ataxia telangiectasia mutated gene 1 (ATM), meiotic recombination protein 11 (

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

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

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

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

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

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

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

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

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

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

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

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

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

42 proving differentiation between a few highly mutated genes and many genes having only a few mutations

43 ains have a significantly lower frequency of mutated genes and mutations per genome than pathogenic s

44 up of 9-month-old male rats with homozygotic mutated genes and one group of wild-type (WT) rats under

45 samples and identified previously unreported mutated genes and pathway alterations; in particular, we

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

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

48 Identifying these mutated genes and understanding how they cooperate requi

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

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

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

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

53 a human BCL6 transgene, we hypothesized that mutated genes are likely to play an important cooperativ

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

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

56 Identification of the mutated gene at this locus may provide further insight i

57 The multitude of new mutated genes being identified in human tumors represent

58 prostate cancers has identified recurrently mutated genes, but the spectrum of genome-wide alteratio

59 We verified the mutated gene by transgenic rescue and characterized the

60 lf-created mutant, through identification of mutated genes by biochemical testing, to verification of

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

62 amilies with 3MC syndrome and identified two mutated genes, COLEC11 and MASP1, both of which encode p

63 The enzyme encoded by the mutated gene contains glutamic acid instead of glutamine

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

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

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

67 Among these mutated genes, driver genes are defined as being causall

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

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

70 in the culture supernatant and in which the mutated gene encodes a ferredoxin gene (fdx).

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

72 playing an altered phenotype that harbored a mutated gene encoding the purine biosynthetic enzyme Pur

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

74 al groups and pathways that are enriched for mutated genes even when the individual genes involved in

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

76 n addition to discovering novel, recurrently mutated genes (for example, WAC, SMC3, DIS3, DDX41 and D

77 However, whether amplified and mutated genes form functional and physical interaction n

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

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

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

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

82 st rate, whereas the highest total number of mutated genes has been found among Shigella isolates, su

83 Repeatedly mutated genes identified by tNGS were KDR with different

84 Mutated genes identified in this study can be potentiall

85 entified OBSCN as one of the most frequently mutated genes, implicating it in cancer formation.

86 NPM1 is the most frequently mutated gene in acute myeloid leukemia (AML), while dele

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

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

89 Although p53 is the most commonly mutated gene in all human cancers, it is only mutated in

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

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

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

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

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

95 the 5q-syndrome, or RPS19, the most commonly mutated gene in DBA.

96 del for Parkin deficiency, the most commonly mutated gene in early onset Parkinson's disease.

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

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

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

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

101 PTEN is the second most frequently mutated gene in human cancer after p53.

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

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

104 p53 is the most frequently mutated gene in human cancer.

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

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

107 3 tumor suppressor gene is the most commonly mutated gene in human cancers.

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

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

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

111 Fbw7 is the fourth most frequently mutated gene in human colorectal carcinomas and has rece

112 y of infancy), making this the most commonly mutated gene in human epilepsy.

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

114 in human TP53, which is the most frequently mutated gene in human lung cancer.

115 he BRAF oncogene, which is the most commonly mutated gene in human melanoma.

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

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

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

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

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

121 athogenesis and discovered a new recurrently mutated gene in melanoma.

122 B-Raf is the most mutated gene in melanoma; however, the mechanism through

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

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

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

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

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

128 ose of the present study was to identify the mutated gene in repro32 mice and to define the structura

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

130 e myelination (having been identified as the mutated gene in spontaneously arising claw paw mutant mi

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

132 The WTX gene is the most commonly mutated gene in Wilms tumor, and its product enhances Wi

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

134 PanNETs and then screened the most commonly mutated genes in 58 additional PanNETs.

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

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

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

138 However, one of the most frequently mutated genes in AML is nucleophosmin (NPM), and this is

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

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

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

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

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

144 bunit (PIK3CA) is one of the most frequently mutated genes in cancer.

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

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

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

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

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

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

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

152 2D has emerged as one of the most frequently mutated genes in follicular lymphoma and diffuse large B

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

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

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

156 kinase family are amongst the most commonly mutated genes in human cancer, and both mutated and acti

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

158 p53, one of the most commonly mutated genes in human cancers, is thought to be associa

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

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

161 RUNX1 is one of the most frequently mutated genes in human hematological malignancies and is

162 r suppressor and is one of the most commonly mutated genes in human malignancies.

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

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

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

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

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

168 efforts are leading to the identification of mutated genes in many types of cancer.

169 cant frequencies, including previously known mutated genes in medulloblastoma such as CTNNB1, PTCH1,

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

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

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

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

174 1 (LKB1/STK11) is one of the most frequently mutated genes in non-small cell lung cancer (NSCLC) and

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

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

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

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

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

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

181 uencing is a successful approach to identify mutated genes in rare monogenic disorders.

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

183 We identified 22 significantly mutated genes in SCLC, including genes encoding kinases,

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

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

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

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

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

189 (0.48 nonsilent) and notably few recurrently mutated genes in these tumors.

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

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

192 The new significantly mutated genes include chromatin-modifying factors and ca

193 ns were seen in both groups, and recurrently mutated genes include NRAS, KRAS, BRAF, and DIS3 as well

194 Mutated genes include the cyclin-dependent kinases CDKA

195 The frequently mutated genes include tyrosine kinases, among them the E

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

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

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

199 Frequently mutated genes included TP53 (17% of pleomorphic liposarc

200 istical analysis identified 77 significantly mutated genes including protein kinases, G-protein-coupl

201 amples contained mutations in 11 recurrently mutated genes, including 4 genes that have not been prev

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

203 ed cells identified more than 200 frequently mutated genes, including human GBM-associated genes, suc

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

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

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

207 nd Nsd3, and all SB tumors have at least one mutated gene involved in this process; 20 CCGs, includin

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

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

210 A gene therapy approach in which a mutated gene is replaced or inactivated, or in which a n

211 ic testing that includes the 3 most commonly mutated genes is available clinically.

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

213 The mutated genes lack obvious relationships to each other,

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

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

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

217 The basic idea of the model is that mutated genes may be in high association with their near

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

219 resources that generate hypotheses about how mutated genes might be targeted therapeutically or prior

220 However, the manner in which these mutated genes might participate, either individually or

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

222 Five mutations in one of the most commonly mutated genes, MMP8, reduced MMP enzyme activity.

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

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

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

226 s was used to estimate the impact of sex and mutated gene on cancer risk.

227 Ig genes are the most highly mutated genes, presumably because of multiple CAGGTG mot

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

229 of the fukutin family (fukutin refers to the mutated gene product that causes Fukuyama congenital mus

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

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

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

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

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

235 We identified the mutated gene responsible for the resistance phenotype as

236 P301S mice overexpress the human tau mutated gene, resulting in tau hyperphosphorylation and

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

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

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

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

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

242 The most frequently mutated genes specify proteins implicated in chromatin r

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

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

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

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

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

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

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

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

251 4 T2 and 225 T8 genes, including four highly mutated genes that are functionally related to the targe

252 The elucidation of the mutated genes that cause polydactyly provides insight in

253 en able to identify some, but not all of the mutated genes that contribute to tumor initiation and pr

254 intain this cell lineage (DDX3X), as well as mutated genes that initiate (CDH1) or cooperate (PIK3CA)

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

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

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

258 ogression suppressors with approximately 700 mutated genes that were excluded from CAN-genes, and exp

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

260 Finally, mutated genes themselves hold promise as therapeutic tar

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

262 In humans, the underlying mutated gene, TMEM67, encodes transmembrane protein 67,

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

264 ts and other genetic crosses and it maps the mutated gene to a defined chromosomal region.

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

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

267 It was less active against HCMV with mutated gene UL97.

268 multidomain protein, is the most frequently mutated gene underlying the non-syndromic blinding disor

269 We found that mutation rates and the sets of mutated genes varied substantially across tumour types a

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

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

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

273 MPM had a different mutation profile, and no mutated gene was previously implicated in MPM.

274 The most commonly mutated gene was the X-linked deubiquitinase Usp9x, whic

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

276 Among these six mutated genes was mutS, which encodes a component of the

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

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

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

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

281 r expression biomarkers, and some frequently mutated genes were associated with sensitivity to a broa

282 The most abundantly mutated genes were direct transcription regulators.

283 Eighteen significantly mutated genes were identified, including five genes (RUN

284 Recurrently mutated genes were investigated by targeted sequencing i

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

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

287 The other two mutated genes were previously unknown to be involved in

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

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

290 of PTEN in breast cancer--as a significantly mutated gene with a mutation frequency of approximately

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

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

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

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

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

296 spliceosome, was the second most frequently mutated gene (with mutations occurring in 15% of patient

297 SPOP was the most frequently mutated gene, with mutations involving the SPOP substrat

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