ライフサイエンスコーパス: somatic

1 T2 mutations (75% predicted germline and 25% somatic).

2 patients, 93.7% had at least one germline or somatic aberration, 71.4% had therapeutic targets and 5.

3 ludes mixtures of subclones, accumulation of somatic aberrations, infiltration of immune and stromal

4 We further estimated that somatic accumulation of PTVs accounts for only a small f

5 y local regulatory mechanisms independent of somatic activity.

6 ome and agnostically identified thousands of somatic alleles altering the prostate epigenome.

7 These results demonstrate that somatic alterations contribute to brain metastases and t

8 We identified a set of cohorts for which somatic alterations could not predict prognosis, and a u

9 e have identified a set of cohorts for which somatic alterations could not predict prognosis.

10 prehensive analysis suggests that when using somatic alterations data for cancer prognosis prediction

11 review the prevalence and characteristics of somatic alterations in AA and PNH and will explore their

12 Somatic alterations in cancer genes are being detected i

13 We identify significantly recurrent somatic alterations in these gliomas including mutant EG

14 The prognostic power of somatic alterations is highly variable across different

15 Similarly, CH with additional, non-PIGA, somatic alterations occurs in the majority of patients w

16 Actionable somatic alterations were detected in 73% of the sequence

17 Actionable somatic alterations were identified.

18 ine resistance have been reported, including somatic alterations, epigenetic changes, and changes in

19 e, ratchet-like, accumulation of deleterious somatic alterations, provided that they occur at a suffi

20 tiology and the chronology of glioma-causing somatic alterations.

21 ing regions of the genome, we propose CScape-somatic, an integrative classifier for predictively disc

22 We show that the interplay between somatic and dendritic inhibition balances the increased

23 izeGDB.org Downstream examination of 137,410 somatic and germinal insertion sites revealed that 50% o

24 context of molecular subtypes, clarify novel somatic and germline drivers, highlight cellular origins

25 h repair deficient (MSI-H/MMR-D) status, and somatic and germline genomic correlates.

26 nd-mutation models that are informed by both somatic and germline patterns of variation.

27 ar chemical vulnerability of DNA between the somatic and germline settings might be used to help iden

28 ture-forming repeats at the molecular level: somatic and intergenerational instability, fragility, an

29 ndent on voltage-gated calcium channels, and somatic and nuclear calcium responses were amplified by

30 indicating simultaneous amelioration of both somatic and reproductive aging.

31 additional analysis is needed to distinguish somatic and unfiltered germline variants.

32 and suppression of meiotic enhancers in the somatic and/or mitotic proliferation phases.

33 der associated with a range of neurological, somatic, and behavioral symptoms.

34 en the risk genotype, circulating PACAP, and somatic anxiety severity were stronger among females tha

35 selective action helps explain how dopamine somatic, but not terminally expressed, KORs are inactiva

36 d the Fan1 knock-out-induced acceleration of somatic CAG expansion.

37 may represent germline variants leaked into somatic call sets.

38 prise a large number of residues affected by somatic cancer mutations.

39 We found that six prominent somatic cancer variant knowledgebases were highly dispar

40 e mark transmits faithfully across mammalian somatic cell generations.

41 Somatic cell nuclear transfer (SCNT) can reprogram a som

42 's ratchet principle applied to the aging of somatic cell populations and discuss the implications fo

43 he enzymatic function of TET proteins during somatic cell reprogramming.

44 ssed in immune cells (hemocytes) and ovarian somatic cells (stretched cells) during their brief phago

45 These studies provide insights into ovarian somatic cells and a resource to study the development, p

46 te islands during the reprogramming of human somatic cells from skin biopsies and blood draws obtaine

47 The recruitment of somatic cells in milk after LPS treatment was delayed by

48 , and facilitate the direct reprogramming of somatic cells into induced trophoblast stem cells.

49 network is a critical event in reprogramming somatic cells into pluripotent status.

50 s and gene-editing reagents are delivered to somatic cells of whole plants.

51 are aggregated with mouse embryonic ovarian somatic cells to form xenogeneic reconstituted ovaries,

52 Reprogramming of human somatic cells to induced pluripotent stem cells (iPSCs)

53 Examples are the conversion of somatic cells to induced pluripotent stem cells and reju

54 s marked by H3K4me3 in actively transcribing somatic cells(7).

55 ption-factor-mediated reprogramming of human somatic cells, indicate a role for the trophectoderm-lin

56 In somatic cells, these functions are both mediated by Scc1

57 rs can selectively kill cancer cells but not somatic cells, which retain both alleles.

58 telomerase gene (hTERT) is repressed in most somatic cells.

59 sion during meiosis, which is different from somatic cells.

60 s, including oocyte and six types of ovarian somatic cells.

61 d metabolism that differs from untransformed somatic cells.

62 hylation during embryonic development and in somatic cells.

63 come a popular method to detect selection in somatic cells.

64 s in embryonic stem cells (ESCs) compared to somatic cells.

65 Reflecting their separate somatic cellular lineages, second wave follicles were ab

66 P1 stimulates replication origin assembly on somatic chromatin by promoting eviction of histone H1 th

67 Somatic chromosomal fusions involving ROS1 produce chime

68 All new Ascaris somatic chromosome ends are recapped by de novo telomere

69 expressed genes between cells from different somatic clones.

70 In our model, a basal-dendrites/somatic compartment included fast-inactivating Na(+) and

71 LOC) efferent fibres re-form functional axon-somatic connections with aged IHCs, but this was seen on

72 ion from its site of utilization facilitates somatic control of germline development.

73 Somatic copy number aberrations (CNAs) have been implica

74 vely resected pituitary adenomas showed that somatic copy number alteration (SCNA) rather than mutati

75 Here, we investigate ITH of somatic copy number alterations (SCNAs), DNA methylation

76 lity due to ischemic heart disease and other somatic diseases decreased for those unemployed followin

77 raumas were key exciting causes, but so were somatic diseases, pregnancy, and substance abuse.

78 We show that although somatic disinhibition is sufficient to form place fields

79 egories of RNA alterations with germline and somatic DNA alterations, and identified probable genetic

80 and genetic events that cooperate with known somatic driver events are poorly understood.

81 loid cells and arise from the acquisition of somatic driver mutations in haematopoietic stem cells (H

82 duced interaction with a shape complementary SOMATIC EMBRYOGENESIS RECEPTOR-LIKE KINASE (SERK) corece

83 bserved that Tnt1 actively transposed during somatic embryogenesis, generating an average of 6.37 ins

84 editor and tested their utility for precise somatic engineering of missense mutations in key cancer

85 ytosine and overlap with subsets of putative somatic enhancers that are methylated in ESCs and can be

86 Potentially, several somatic (epi-)mutations occurred during prolonged vegeta

87 Furthermore, a detailed analysis of the somatic epimutation spectrum indicates that transgenerat

88 indicating a role for cell division genes in somatic evolution in healthy skin.

89 e explore the effects of compartment size on somatic evolution in hierarchical tissues by considering

90 Cancer develops through a process of somatic evolution(1,2).

91 However the link, in somatic evolution, between dN/dS values and fitness coef

92 ween genetic and non-genetic determinants of somatic evolution.

93 cterized by an average mutation burden of 85 somatic exonic mutations per tumor sample.

94 To gain insight into somatic expansion in humans, we performed comprehensive

95 a may be a useful druggable target to reduce somatic expansion in those disorders where it contribute

96 l disease modification: altering the rate of somatic expansion of the HTT CAG repeat or altering the

97 onset modifier gene (MLH1), which suppresses somatic expansion of the Htt knock-in CAG repeat, blocke

98 (C. elegans hermaphrodites are somatic females that transiently produce self-sperm.) Es

99 ox of aneuploidy abundance in tumors despite somatic fitness costs.

100 w coordinated stem cell units, germline, and somatic follicle stem cells maintain and renew an organ.

101 A new form of somatic gene recombination (SGR) has been identified in

102 rogrammed DNA elimination leads to a reduced somatic genome compared to germline cells.

103 es represent a link between inflammation and somatic genomic alterations and are thus key targets for

104 We present RNAIndel, a tool for predicting somatic, germline and artifact indels from tumor RNA-Seq

105 wo PGCs that are wrapped individually by two somatic gonad precursor cells (SGPs).

106 We systematically disrupted expression of somatic H1 subtypes to show that individual H1 subtypes

107 The variant identified is a somatic hotspot in Wilms tumors and has been identified

108 recombination (IHR) occurs spontaneously in somatic human cells at frequencies that are low but suff

109 d from these plasmablasts had high levels of somatic hypermutation (SHM) and recognized the HA stem r

110 Somatic hypermutation (SHM) generates much of the Ab div

111 ealed broad dissemination and high levels of somatic hypermutation (SHM) of most lineages, including

112 e of this difference may be linked to B cell somatic hypermutation (SHM) targeting, including error-p

113 ntibody class switch recombination (CSR) and somatic hypermutation (SHM), whereas AID targeting of no

114 tigen-driven BCR affinity maturation through somatic hypermutation and cellular selection in germinal

115 utralizing antibodies display high levels of somatic hypermutation and cross-react with circulating H

116 gical range, AID and Blimp1 expression, CSR, somatic hypermutation and plasma cell differentiation.

117 These antibodies had low levels of somatic hypermutation and showed a strong enrichment in

118 G repertoire diversity, clonal expansion and somatic hypermutation in cells from mice immunized with

119 h distributions, class switch recombination, somatic hypermutation levels and in features of V(D)J re

120 y that analyses both V(D)J segment usage and somatic hypermutation profiles, we elucidate physiologic

121 ll signaling, increased rounds of productive somatic hypermutation, and B-cell selection strength are

122 antibodies, which exhibited a high degree of somatic hypermutation, consistent with chronic antigen e

123 hed through clonal selection, expansion, and somatic hypermutation.

124 n about their BCR repertoires or patterns of somatic hypermutation.

125 quence may differ due to the accumulation of somatic hypermutations (SHMs).

126 -glycans and minor contributions of antibody somatic hypermutations to epitope contacts.

127 ified, and available tumors showed biallelic somatic inactivation of TP53.

128 nting analytical challenges for discovery of somatic indels in tumor transcriptome.

129 Reliable identification of expressed somatic insertions/deletions (indels) is an unmet need d

130 One quarter of all tumor samples contain somatic integrations of telomeric sequences into non-tel

131 ected by recurrent breakpoints and recurrent somatic juxtapositions.

132 o be a male-determining factor (M factor) as somatic knockout of Nix led to feminized males (M/m) whi

133 Although somatic KRAS mutations are common in human tumors, no in

134 and stomach, and found a variable number of somatic L1 insertions in tumors of the same type from pa

135 modified method of single-cell analysis for somatic L1 insertions, we studied adenocarcinomas of col

136 rsal biallelic inactivation of ELP1 owing to somatic loss of chromosome arm 9q.

137 Deepening somatic loss of heterozygosity in serial tumor samples i

138 y genes, while repressing WNT signalling and somatic markers.

139 Somatic microglia-neuron junctions have a specialized na

140 ge and reliably identified both germline and somatic MMR mutations.

141 explained by LS or MLH1-hypermethylation had somatic MMR mutations.

142 Somatic MMR sequencing was performed when indicative mol

143 In myotonic dystrophy type 1 (DM1), somatic mosaicism of the (CTG)n repeat expansion is age-

144 Somatic mosaicism, manifesting as single nucleotide vari

145 -of-function missense variants and to detect somatic mosaicism.

146 Tuning in mammals uses somatic motility of outer hair cells, underpinned by the

147 where rapidly proliferating B cells undergo somatic mutation and selection and eventual differentiat

148 ulate feature-level and local, or "hotspot," somatic mutation enrichment statistics.

149 flexible software package for investigating somatic mutation enrichment that is implemented in Pytho

150 nd attenuated isoLG adducts, DNA damage, and somatic mutation frequency.

151 We identify the same hotspot somatic mutation in splicing factor 3 subunit B1 (SF3B1(

152 riant showed association with CRC and a high somatic mutation rate in cancer tissues.

153 nts with primary colorectal cancer and known somatic mutation status by next-generation sequencing wh

154 to Knudsen's two hit hypothesis, the p.S745L somatic mutation was always on the same chromosome as th

155 arlier age of diagnosis, and a lower rate of somatic mutation, whereas D3-positive tumors were less l

156 nosis-related lncRNA biomarkers; (ii) 11 418 somatic mutation-ceRNA events from TCGA and COSMIC; (iii

157 of diagnosis, and exhibited a higher rate of somatic mutation.

158 challenge is the fast generation of accurate somatic mutational landscapes that can be used as a real

159 Our analyses reveal that the change in somatic mutational load in cancer genomes is co-localize

160 The first deep learning model DeepMS on WGS somatic mutational profiles enable us identify more comp

161 ditional information on their functionality, somatic mutational status, class switch recombination, a

162 d genes (gHFI) determines which and how many somatic mutations (sM) must occur for malignant transfor

163 Somatic mutations acquired in healthy tissues as we age

164 is as well as shared mechanisms that lead to somatic mutations across tissues.

165 Rare somatic mutations affecting these same motif classes tra

166 t multiple time points reveal acquisition of somatic mutations and copy number aberrations over time.

167 cs data further reveal functional effects of somatic mutations and copy number variations (CNVs) not

168 Plants can transmit somatic mutations and epimutations to offspring, which i

169 Cancers harbor many somatic mutations and germline variants, we hypothesized

170 e T-cell immunoresponse, especially when the somatic mutations are abundant.

171 c risk scores, environmental pollutants, and somatic mutations are discussed.

172 Somatic mutations are major genetic contributors to canc

173 We therefore suggest that somatic mutations associated with blood cancers may resu

174 Although acquisition of leukemia-associated somatic mutations by 1 or more hematopoietic stem cells

175 Many disease-causing somatic mutations can initiate clonal growth prior to th

176 by inspecting over 2.5 million nonsynonymous somatic mutations derived from 6,789 tumor exomes across

177 These data indicate that non-coding somatic mutations disrupt the PAX8 transcriptional netwo

178 rized mutational signatures using 84,729,690 somatic mutations from 4,645 whole-genome and 19,184 exo

179 nents and characterized their cancer-derived somatic mutations from an evolutionary perspective.

180 Analysis of somatic mutations from tumor whole exomes has fueled dis

181 tion of CLM/EHD is unclear and the impact of somatic mutations has not been reported.

182 In addition, we show that cancer somatic mutations have different effects on TF binding s

183 urden (TMB) is a measure of the abundance of somatic mutations in a tumor, which has been shown to be

184 MMR genes with risk of adenoma and CRC, and somatic mutations in APC and CTNNB1 in colorectal tumors

185 dependent Hh signaling in human cancers with somatic mutations in both TP53 and RB1.

186 Clinical sequencing aims to identify somatic mutations in cancer cells for accurate diagnosis

187 We exhaustively evaluated somatic mutations in each patient's genome and agnostica

188 is caused by genetic mutations, but not all somatic mutations in human DNA drive the emergence or gr

189 loproliferative neoplasms (MDSs/MPNs) harbor somatic mutations in myeloid-related genes, but still, c

190 ely clarified, whereas little is known about somatic mutations in noncoding DNA and their role in dri

191 Recent studies have started to map somatic mutations in normal human tissues, and here we d

192 ding Lysine-specific demethylase 6A, carries somatic mutations in PDAC.

193 ret the functional significance of noncoding somatic mutations in promoting tumorigenesis.

194 on, increased protein secretion demands, and somatic mutations in proteins handled by the secretory p

195 subtype associated with hypermethylation and somatic mutations in TET2, DNMT3B, IDH1 and BRAF.

196 We also find that the majority of somatic mutations in the cell-free DNA (cfDNA) of patien

197 Sporadic pilomatricomas commonly have somatic mutations in the gene CTNNB1, but causative gene

198 umarate occur in human malignancies owing to somatic mutations in the isocitrate dehydrogenase-1 or -

199 The presence of somatic mutations in the peripheral blood is termed clon

200 d gene, defined as two or more nonsynonymous somatic mutations in the same gene and tumour.

201 Many of the genes disrupted by somatic mutations in these diseases (for example, TP53,

202 ns poorly defined for reasons including that somatic mutations in these genes are common in blood can

203 n non-BRCA1/2 HR-related genes (cohort 1) or somatic mutations in these genes or BRCA1/2 (cohort 2).

204 st broad sets of quantitative information on somatic mutations in vivo necessary to gain insight into

205 generation sequencing has revealed recurring somatic mutations in Waldenstrom macroglobulinemia (WM),

206 Here, we systematically interrogated somatic mutations involved in immune signaling that alte

207 cer neoantigens generated by tumor-exclusive somatic mutations is an attractive yet challenging strat

208 tinguish germline (inherited or de novo) and somatic mutations is often limited by the laboratory ana

209 Somatic mutations leading to clonal hematopoiesis have b

210 ing on the cumulative signal of thousands of somatic mutations observed in solid malignancies, with T

211 The accumulation of somatic mutations plays critical roles in cancer develop

212 nisms in the colitis-affected colon and that somatic mutations potentially play a causal role in IBD

213 Beyond germline and somatic mutations promoting constitutive SHH signaling,

214 pathogenic germline mutations by genotyping somatic mutations shared between tumors and blood.

215 It requires acquisition of multiple somatic mutations that collectively cause a malignant ph

216 The age-related acquisition of somatic mutations that lead to clonal expansion in regen

217 Cancer is caused by the accumulation of somatic mutations that lead to the formation of distinct

218 l information and genomic profiles including somatic mutations were also obtained.

219 y cell in the human body has a unique set of somatic mutations, but it remains difficult to comprehen

220 Somatic mutations, copy-number alterations, mutation loa

221 However, the global patterns of somatic mutations, especially non-coding mutations, and

222 ab1 sequence has a relatively low number of somatic mutations, indicating that ab1-like antibodies c

223 in which both twins harbored identical rare somatic mutations, suggesting a shared cell of origin.

224 attern of extensively branching evolution of somatic mutations.

225 volution from the site frequency spectrum of somatic mutations.

226 iatric solid tumor with infrequent recurrent somatic mutations.

227 ter understand cancer heterogeneity based on somatic mutations.

228 Compared with the somatic nervous system, pharyngeal neurons both physical

229 controlling neurons, suggesting hierarchical somatic/neural interactions regulating sleep and energy

230 cell nuclear transfer (SCNT) can reprogram a somatic nucleus to a totipotent state.

231 tensive changes in epigenetic marks, allow a somatic nucleus to become totipotent after transfer into

232 rigins in embryonic nuclei is higher than in somatic ones, ensuring rapid genome duplication during s

233 ted UTI were recruited from psychogeriatric, somatic, or rehabilitation wards, in the thirteen partic

234 y be classified in six ways: (a) germline or somatic origin, (b) class of DNA mutation (ranging in sc

235 lemmal cysts from 16 subjects all harbored a somatic p.S745L (c.2234 G > A) mutation in phospholipase

236 g both unconditioned behavioral responses to somatic pain and fear-memory formation.

237 ferences in brain processing of visceral and somatic pain.

238 For patients with germline or somatic pathogenic or likely pathogenic variants in BRCA

239 For somatic point mutations in coding and non-coding regions

240 ectly in the reproductive system to regulate somatic proteostasis, we performed a tissue targeted gen

241 sequencing studies have identified frequent somatic Ras pathway alterations across a diverse group o

242 uenced by the distinction of germline versus somatic, rather than neutral versus disease driver.

243 ar DNAs are an unanticipated major source of somatic rearrangements, contributing to oncogenic remode

244 the presence and absence of the germ line on somatic repair under benign and stressful conditions.

245 Instead, later somatic reproductive system defects suggest that proper

246 al regulation of lag-1 confers robustness to somatic reproductive system development.

247 rom direct food intake, but there is limited somatic reserve remobilization.

248 hancing the contribution of weak synapses to somatic responses.

249 olaparib response in patients with MBC with somatic (s)BRCA1/2 mutations or g/s mutations in homolog

250 Somatic scribble mutant cells are selectively eliminated

251 Somatic sensation is defined by the existence of a diver

252 siently produce self-sperm.) Essentially all somatic sex differences in C. elegans are governed by th

253 the entire non-gonadal soma, suggesting that somatic sexual differentiation may be affected by extern

254 multaneous interrogation of extended sets of somatic single-nucleotide variants (SNVs) in circulating

255 We identified 649 associations of somatic single-nucleotide variants with gene expression

256 sent state values and arise independent from somatic spiking activity.

257 ircuit activity at various stages, including somatic spiking, calcium signals at somata and axons, an

258 We modulated somatic state through a lifelong brood size manipulation

259 n that lifelong increased brood size reduced somatic state was supported: Birds rearing enlarged broo

260 teome throughout life is critical for proper somatic stem cell function, but the complexities of the

261 rates an example in which the maintenance of somatic stem cells is directly influenced by the overall

262 ress can drive a rapid and permanent loss of somatic stem cells, and illustrates an example in which

263 e cardiorespiratory and arousal responses to somatic stresses, whereas RTN selectively controls lung

264 Here, we assessed the contribution of somatic structural variation (SV) in neuroblastoma using

265 data further define the complex landscape of somatic structural variation in neuroblastoma and sugges

266 s across 38 tumor types, we analyzed 288,457 somatic structural variations (SVs) to understand the di

267 (CeA) as an important site for mediating the somatic symptoms of withdrawal and for regulating alcoho

268 timulation of one circuit, while anxiety and somatic symptoms responded best to stimulation of a diff

269 The associations with somatic symptoms were also independent of relevant confo

270 trointestinal symptoms, non-gastrointestinal somatic symptoms, and psychological dysfunction.

271 disability, depression, poor sleep quality, somatic symptoms, post-traumatic stress disorder, being

272 sleep disturbances, and other cognitive and somatic symptoms.

273 s often blurred by concomitant autonomic and somatic symptoms.

274 oles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome.

275 This model predicts that excessively long somatic telomeres predispose to cancer.

276 Large germline panels and somatic testing were recommended for metastatic PCA.

277 red the methylation profile of each father's somatic tissue and semen with the methylation profile of

278 1 exonuclease-deficient mutant identified in somatic tissue from a cancer patient highlighted the sig

279 rs associated with ubiquitous, germline, and somatic tissue-specific gene expression patterns.

280 in regulatory architectures of germline and somatic tissue-specific genes, uncover regulatory rules

281 ing factors from the germline or surrounding somatic tissue.

282 l DNA (mtDNA) directly from oocytes and from somatic tissues (brain and muscle) of 36 mice from two i

283 They colonize somatic tissues and germline in chimeras.

284 ing the evolution of sex-biased genes in the somatic tissues of Drosophila are largely unknown.

285 In somatic tissues of FRDA patients, (GAA)(n) repeat tracts

286 s and can be efficiently employed in various somatic tissues, as well as the germline.

287 ed by distinct mechanisms in pluripotent and somatic tissues.

288 NA repertoires, with the clearest effects in somatic tissues.

289 transcription factor is sufficient to co-opt somatic transcriptional machinery to drive a pro-tumorig

290 a library of lentiviral vectors to generate somatic-transgenic rodents to monitor signalling pathway

291 or mucinous ovarian cancer should be offered somatic tumor testing for mismatch repair deficiency (dM

292 iastinal nonseminomas (PMNs) and hematologic somatic-type malignancies (HSTMs).

293 cell tumor +/- teratoma (41%), and secondary somatic-type malignancy +/- teratoma (20%).

294 e evaluated the performance of eight primary somatic variant callers and multiple ensemble methods us

295 for two key steps in TRMN prediction, namely somatic variant calling from exome sequencing data and p

296 logical divergences between two reproducible somatic variant detection efforts.

297 ene fusion events are significant sources of somatic variation across adult and pediatric cancers and

298 and, allows for identification of non-coding somatic variation and expanded estimation of background

299 ferential role of such biological systems in somatic versus cognitive-affective depressive symptoms w

300 ometry and sodium conductance density to the somatic voltage threshold.