ライフサイエンスコーパス: somatic

1 ined by genomic variants, both inherited and somatic.

2 A somatic, 400 Kb deletion on chromosome 19 that fuses par

3 Furthermore, the activation curve of somatic A-type K(+) current was depolarized.

4 esigned or have the ability to detect cancer somatic aberrations.

5 Here, we describe the somatic acquisition of promoter mutations in telomerase

6 nections between reproductive senescence and somatic aging and give an overview of the involvement of

7 etic cells, which represents the most common somatic alteration in men.

8 tumor-suppressor' (EXITS) genes, we examined somatic alterations from >4,100 cancers across 21 tumor

9 Whether germ-line or somatic alterations in these genes or other members of t

10 Most cancers develop following random somatic alterations of key oncogenic genes, which are fa

11 Unlike CM, somatic alterations were dominated by structural variati

12 find that RNA expression differs between the somatic and axonal compartments of the neuron, for both

13 l or vegetal pole, including determinants of somatic and germline fates.

14 l tumor and blood samples were genotyped for somatic and germline mutations in APC and CTNNB1.

15 wide local assembly algorithm that discovers somatic and germline structural variation breakpoints in

16 terations conferring resistance, we observed somatic and insertional loss-of-function mutations in tr

17 s to be related to anisotropic growth of the somatic and neural elements following early development

18 Somatic and pluripotency TFs modulate reprogramming effi

19 obal and locus-specific DNA demethylation in somatic and pluripotent stem cells.

20 Divergent somatic and presynaptic engagement in both projections d

21 l stress responses are linked to a number of somatic and psychiatric diseases, emphasizing the import

22 TUM DETERMINANT1) play a fundamental role in somatic and reproductive cell differentiation during ear

23 NF-kappaB activation is selected for by both somatic and viral events during NPC pathogenesis.

24 aphy revealed spectral dissociations between somatic and visual effects, and higher gamma connectivit

25 gesting that appropriate GA signaling in the somatic anther tissue is critical for male meiotic cell

26 ted with docetaxel for mCRPC were tested for somatic BRCA1/2 mutations of the primary tumor.

27 lease (CICR) from the ER immediately beneath somatic, but not axonal or dendritic, plasma membrane.

28 tor contributing to developmental failure in somatic cell cloned embryos.

29 Our study uncovers a novel mechanism of somatic cell differentiation during gonad development.

30 Cell, Pae et al. (2017) show that GCL blocks somatic cell fate by specifically destroying the Torso R

31 rosine kinase (RTK) and major determinant of somatic cell fate.

32 re required for commitment to differentiated somatic cell fates.

33 The primary goal of a dividing somatic cell is to accurately and equally segregate its

34 nts multiple transposition bursts in a given somatic cell lineage that later contributes to different

35 This leads to mutation accumulation and somatic cell mosaicism in multicellular organisms, and i

36 induced pluripotent stem cells, iPSCs) or by somatic cell nuclear transfer (SCNT).

37 pecificity determines iNKT function, we used somatic cell nuclear transfer to generate three lines of

38 ects of RNA metabolism, the roles of RBPs in somatic cell reprogramming are poorly understood.

39 Finally, Rif1 acts as a barrier during somatic cell reprogramming, and its depletion significan

40 the comprehension of the complex process of somatic cell reprogramming, many questions regarding the

41 ation along with active transcription during somatic cell reprogramming.

42 hful resetting of the epigenetic memory of a somatic cell to a pluripotent state during cellular repr

43 Leydig and theca-interstitium) are two major somatic cell types in mammalian gonads, but the mechanis

44 ansgene expression in multiple primary human somatic cell types, thereby representing a highly attrac

45 iation and, conversely, acts as a barrier to somatic-cell reprogramming.

46 ost organisms consist of two cell lineages - somatic cells and germ cells.

47 rovides in vivo evidence that differentiated somatic cells can be reprogrammed into cancer initiating

48 nknown whether electrophysiologically-active somatic cells derived from separate germ layers can be i

49 ed to investigate the kinematic behaviour of somatic cells emerging from hESC differentiation and to

50 uki (2017) describe the direct conversion of somatic cells from both mice and humans into robust inte

51 Mutations in somatic cells generate a heterogeneous genomic populatio

52 Direct reprogramming of somatic cells has been demonstrated, however, it is unkn

53 referred mode of homologous recombination in somatic cells leading to an obligatory non-crossover out

54 expressed in Sertoli cells of the testes and somatic cells of embryonic ovaries.

55 A demethylation induced by XPC expression in somatic cells overcomes an early epigenetic barrier in c

56 y is regulated in HD affected stem cells and somatic cells remains largely unclear.

57 ns unclear how intercellular signaling among somatic cells results in only one cell in the sub-epider

58 arily conserved archaic embryonic program in somatic cells that can be de-repressed for oncogenesis.

59 Reprogramming of somatic cells to induced pluripotent stem cells (iPSCs)

60 Oct4, Sox2, Klf4, and cMyc (OSKM) reprogram somatic cells to pluripotency.

61 on, p53 regulation and cell proliferation in somatic cells, but its role in embryonic stem cells is u

62 L1 retrotransposition can also occur in somatic cells, causing genomic mosaicism, as well as in

63 We thus now propose that, in somatic cells, homologous dsDNA-dsDNA interactions betwe

64 TERT) gene, which remains repressed in adult somatic cells, is critical during tumorigenesis.

65 However, in some species and in human somatic cells, Piwil proteins bind primarily to tRNA.

66 Here, using Xenopus egg extracts and human somatic cells, we show that actin dynamics and formins a

67 m cells (ESCs) differs markedly from that in somatic cells, with ESCs exhibiting a more open chromati

68 es not alter gene expression in a variety of somatic cells.

69 tion complexes similar to those described in somatic cells.

70 gements known as chromoanagenesis, including somatic chromoanasynthesis, and extreme balanced germlin

71 ntroducing NGS data, there are few tools for somatic CNV detection for WES data in cancer.

72 frequently suffer from both psychiatric and somatic comorbid disorders.

73 ation between immune metagene expression and somatic copy number alteration levels (rho = -0.484, P =

74 Somatic copy number of 8 genes frequently deleted in ALL

75 Extensive prior research focused on somatic copy-number alterations (SCNAs) affecting cancer

76 s is not somatic point mutations, but rather somatic copy-number alterations (SCNAs).

77 widespread intratumor heterogeneity for both somatic copy-number alterations and mutations.

78 After integration of somatic copy-number alterations, and clinical features s

79 and resulted in parallel evolution of driver somatic copy-number alterations, including amplification

80 cal intervention, in particular, because the somatic deletion of the CXCR4 gene in mice is embryonica

81 hestration of sequential gene regulation for somatic differentiation in pre-meiotic anthers.

82 To prevent somatic differentiation, PGCs must transiently silence t

83 e BDMM identified further directly co-morbid somatic disorders, e.g. irritable bowel syndrome, fibrom

84 s ancestral vertebrate features, whereas the somatic diversification of structurally distinct antigen

85 Deep sequencing can detect somatic DNA mutations in tissues permitting inference of

86 Somatic DNA recombination, the hallmark of vertebrate ad

87 outer hair cells and their singular feature, somatic electromotility, i.e., the ability of their cyli

88 ome genetic conservation between apogamy and somatic embryogenesis and that such asexual reproduction

89 BBM-mediated somatic embryogenesis is dose and context dependent, and

90 Here, we show that SERK1 (SOMATIC EMBRYOGENESIS RECEPTOR-LIKE KINASE1) and SERK2 L

91 M) genes in angiosperms are known to promote somatic embryogenesis, which like apogamy produce sporop

92 hen overexpressed by altering OSK targeting, somatic-enhancer inactivation, and pluripotency enhancer

93 We found that OSK predominantly bind active somatic enhancers early in reprogramming and immediately

94 the redistribution of somatic TFs away from somatic enhancers to sites elsewhere engaged by OSK, rec

95 during consecutive cycles of sound stimuli, somatic EPSP normalization renders spike initiation more

96 ur findings demonstrate that PGCCs represent somatic equivalents of blastomeres, the most primitive c

97 ce that in addition to sexual recombination, somatic exchange can play a role in the emergence of new

98 the prefrontal cortex display higher gain of somatic excitability, responding with a higher number of

99 Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models,

100 nd base-excision repair are important in the somatic expansion of repeated sequences in mouse models

101 odels of trinucleotide repeat disorders, and somatic expansion of the expanded CAG tract in HTT corre

102 e optimal allocation between development and somatic function.

103 of increased and serial dosing regimens for somatic gene editing in vivo.

104 gramming requires DNA methylation to silence somatic gene expression and dynamic DNA demethylation to

105 Somatic gene mutations can alter the vulnerability of ca

106 from the release of selective constraint on somatic gene networks in embryogenesis, thus leading to

107 Somatic gene therapy is a promising approach for treatin

108 -Cas9 genome editing and transposon-mediated somatic gene transfer to demonstrate that expression of

109 new concept of metabolic disease modeling by somatic genome editing could be applied to many other sy

110 Tumor metastasis is mainly caused by somatic genomic alterations (SGAs) that perturb pathways

111 proach to nominate heritable facilitators of somatic genomic events in the context of the androgen re

112 If gonadal tissue is spared-as in somatic genomic mosaicism-the mutation and its effects a

113 l olivary nucleus receive monosynaptic extra-somatic glutamatergic input from the neocortex.

114 Somatic gonadal precursor cells and germ cells fail to p

115 biological processes including reproduction, somatic growth, and tissue maintenance.

116 While relatively stable during somatic growth, DNA methylation is reprogrammed genome-w

117 ould impose significant long-term effects on somatic growth, energy homeostasis and metabolic functio

118 port, lambs on the system demonstrate normal somatic growth, lung maturation and brain growth and mye

119 Tonic spikes have similar somatic half-widths to late burst spikes and undergo sim

120 known whether L1 can retrotranspose in other somatic healthy tissues or if L1 mobilization is restric

121 rsification occurs when Ig V regions undergo somatic hypermutation (SHM) and affinity-based selection

122 ool, the immune repertoire pipeline, and the somatic hypermutation (SHM) and class switch recombinati

123 munoglobulin (Ig) genes to initiate antibody somatic hypermutation (SHM) and class switch recombinati

124 es both class switch recombination (CSR) and somatic hypermutation (SHM) in antibody diversification.

125 During somatic hypermutation (SHM) of immunoglobulin genes, ura

126 70% of cases (107/154) bearing an imprint of somatic hypermutation (SHM) ranging from minimal to pron

127 enhanced the expression of AID and increased somatic hypermutation and chromosomal translocation freq

128 nd achieved breadth with only 10% nucleotide somatic hypermutation and no insertions or deletions.

129 lalisib, but not ibrutinib, showed increased somatic hypermutation in AID off-targets.

130 Unexpectedly, we discover high levels of somatic hypermutation in infants as young as 3 months ol

131 ntibody clonal lineage analysis reveals that somatic hypermutation levels are increased in both infan

132 oire diversification in infants and toddlers.Somatic hypermutation of antibodies can occur in infants

133 Studies on somatic hypermutation of the antigen binding region, rec

134 tion-induced (cytosine) deaminase to promote somatic hypermutation on both DNA strands to generate do

135 In the germinal center, B cells undergo somatic hypermutation, affinity-based clonal expansion,

136 n germinal centers (GC), underwent extensive somatic hypermutation, and differentiated into memory B

137 daptive immunity is driven by the expansion, somatic hypermutation, and selection of B cell clones.

138 of the tract and have higher frequencies of somatic hypermutation, suggesting extensive and serial r

139 ginal zone cells, ABCs displayed significant somatic hypermutation.

140 Only a few somatic hypermutations are required for broad antiviral

141 ously experienced malaria continue to induce somatic hypermutations upon malaria rechallenge.

142 al, and insights into the intricate germline-somatic-immunity interaction landscape.

143 l renal carcinomas (ccRCCs) are initiated by somatic inactivation of the VHL tumor suppressor gene.

144 By operating through dendritic and not just somatic inhibition, SOM-mediated oscillations may expand

145 Among these non-coding variants, somatic insertions are among the least well characterize

146 of a newly developing ECD lesion revealed a somatic KRAS(Q61H) mutation without the presence of BRAF

147 o consider the possible biological impact of somatic L1 insertions in neurons, the existence of donor

148 xpression and function, indicating that many somatic lineage programs are actively and persistently r

149 ly, MiP myogenic propensity is influenced by somatic lineage retention.

150 Based on their somatic locations, we inferred that neurons with only ip

151 us to identify an additional 22 tumors with somatic loss of BRCA1 or BRCA2 and 47 tumors with functi

152 Furthermore, somatic loss of chromosome Y (LOY) was detected in about

153 7 (-7), deletions of 7q (7q-), and secondary somatic loss-of-function (nonsense and frameshift) mutat

154 energetic resources are directed more toward somatic maintenance and proteostasis, and away from cell

155 iallelic MUTYH mutations); and 1 patient had somatic MLH1 methylation.

156 PMS2 variant; 9 patients (18.8%) had double somatic MMR mutations (including 2 with germline biallel

157 The data show that somatic MORs in POMC neurons couple to multiple effector

158 Prolonged activation of somatic MORs in POMC neurons robustly inhibited action p

159 A somatic mosaic model of PDAC, which allows time-restrict

160 s, these findings suggest that the degree of somatic mosaicism and the impact of L1 retrotranspositio

161 L1 retrotransposition can cause somatic mosaicism during neurodevelopment by insertional

162 These findings reveal a large degree of somatic mosaicism in healthy human tissues, link de novo

163 r mutations to somatic mosaicism, and couple somatic mosaicism with cell proliferation.

164 issues, link de novo and cancer mutations to somatic mosaicism, and couple somatic mosaicism with cel

165 o tools: MSMuTect, for accurate detection of somatic MS indels, and MSMutSig, for identification of g

166 Activation of somatic mu-opioid receptors (MORs) in hypothalamic proop

167 Loss of Drosophila miR-1 produces defects in somatic muscle and embryonic heart development, which ha

168 Here we used CRISPR/Cas9 somatic mutagenesis to test a patterning role for WntA,

169 Whereas lambda somatic mutants from the depleted sample displayed evide

170 these antibodies demonstrate high degrees of somatic mutation and other unique characteristics that m

171 The identification of novel somatic mutation associated with ECD enabled treatment w

172 is generated by integrating the CNV data and somatic mutation data, and a mutation network is constru

173 alts and PARP inhibitors, the data regarding somatic mutation for prediction of drug sensitivity rema

174 Strikingly, a compensatory FANCA somatic mutation from an "experiment of nature" in monoz

175 th heritable structural variation as well as somatic mutation in human genomes.

176 We identified new somatic mutation in MUC16 (A.k.a. CA-125), MUC12, MUC4,

177 we found evidence of time-varying effects of somatic mutation load on PFS in this cohort (n = 25, p =

178 D) are rare histiocytic disorders induced by somatic mutation of MAPK pathway genes.

179 uencing, have identified gene expression and somatic mutation profile subsets of TNBC that reflect bi

180 en species, but much less is known about the somatic mutation rate in multicellular organisms, which

181 Here, we present data on somatic mutation rates in mice and humans, obtained by s

182 cedure as a firm foundation for standardized somatic-mutation analysis in single-cell genomics.

183 on between tumor differentiation and overall somatic mutational burden, which also likely explains th

184 ncing, we validate the concordance of clonal somatic mutations (88%), copy number alterations (80%),

185 -centric' method for identifying clusters of somatic mutations across entire gene families using prot

186 We identify somatic mutations and copy number alterations significan

187 Multiple somatic mutations and copy-number alterations in genes t

188 upled to chromatin structure, we examine how somatic mutations are distributed across boundaries and

189 utations in cancer, yet efforts to correlate somatic mutations found in one or few individuals with f

190 ase-substrate interaction modules altered by somatic mutations identified by KNMPx were significantly

191 ble relationship between DNA methylation and somatic mutations identified in CPA.

192 eration sequencing (NGS) genomic testing for somatic mutations in breast oncology has been slower tha

193 They found that somatic mutations in cancer are largely neutral, highlig

194 Somatic mutations in candidate driver (CD) genes are tho

195 Clonal hematopoiesis results from somatic mutations in hematopoietic stem cells, which giv

196 ematopoiesis (CH), as evidenced by recurrent somatic mutations in leukemia-associated genes, commonly

197 In summary, somatic mutations in MAP2K1 are a common cause of extrac

198 Somatic mutations in PIK3CA are frequently found in a nu

199 2-HG, mIDH2 allele burden, and co-occurring somatic mutations in sequential patient samples from the

200 SIRT2's tumor-suppressive function in which somatic mutations in SIRT2 contribute to genomic instabi

201 ignant clones are characterized by recurrent somatic mutations in specific sets of genes, but the dir

202 We show that somatic mutations in TET2, DNMT3A, ASXL1, and PPM1D are

203 Somatic mutations in the 3 driver genes, that is, JAK2,

204 a rare histiocytic neoplasm associated with somatic mutations in the genes involved in the RAF/MEK/e

205 Either of 2 somatic mutations in the potassium channel KCNJ5 (G151R

206 Although previous studies have characterized somatic mutations in this disease, a rigorous comparison

207 generation sequencing has revealed recurring somatic mutations in Waldenstrom macroglobulinemia (WM).

208 for bulk-tumor sequencing data that clusters somatic mutations into clones and infers a phylogenetic

209 y promoter methylation, copy number loss, or somatic mutations is associated with defective MHC class

210 Detection of somatic mutations is one of the main goals of next gener

211 mbryos, our understanding of early embryonic somatic mutations is very limited.

212 equences and structures, we demonstrate that somatic mutations occur frequently at position 83, with

213 Somatic mutations of NFE2L2 leading to NRF2 accumulation

214 The primary end point was the incidence of somatic mutations of the RAS, BRAF, and EGFR genes and a

215 in prostate adenocarcinoma (PC), via either somatic mutations or mRNA downregulation, suggesting an

216 An average of 3.6 +/- 1.2 somatic mutations per exome was identified in HSPCs from

217 However, factors other than somatic mutations play an important role in disease init

218 an algorithm to predict NMD and apply it on somatic mutations reported in The Cancer Genome Atlas.

219 Clonal frequency analyses of somatic mutations show that the metastases have a monocl

220 Somatic mutations such as CARD11 may have an impact on r

221 ing technologies have allowed us to identify somatic mutations that initiate BE and track genetic cha

222 evelopmental disorders caused by germline or somatic mutations that occur in genes regulating the PI3

223 , detailed analyses of spontaneously arising somatic mutations that recover CD247, and thus TCR expre

224 The contribution of somatic mutations to metastasis of colorectal cancers is

225 atients underwent searches for germ line and somatic mutations using next-generation sequencing techn

226 The accumulation of somatic mutations with age-which we term genosenium-show

227 lymphomas to define transgene architecture, somatic mutations, and structural alterations.

228 ive' genes which were frequently targeted by somatic mutations, copy number alterations, DE and AS, i

229 ber variations (CNV), gene- or pathway-level somatic mutations, or germline polymorphisms (SNP) are a

230 copy-number alterations and highly recurrent somatic mutations.

231 iction of viral infection, and generation of somatic mutations.

232 eveloping noninvasive imaging biomarkers for somatic mutations.

233 served mutual exclusivity among tumours with somatic NF-kappaB pathway aberrations and LMP1-overexpre

234 100% of the germline NF1 mutations and found somatic NF1 inactivation in 74% of the PN.

235 etic analysis revealed neither germ line nor somatic NLRP3, TNFRSF1A, NLRC4, or NOD2 mutations, apart

236 Seventy-six somatic nonsynonymous mutations in 42 genes were observe

237 s in a modality-dependent manner, modulating somatic noxious heat pain, but is not required for visce

238 Somatic silencing does not require somatic nuclear RNAi but instead requires both maternal

239 to an acute Q fever infection, without other somatic or psychiatric comorbidity explaining the fatigu

240 required for sensing acute and inflammatory somatic pain in mice and humans but its significance in

241 cators for both ions were loaded through the somatic patch pipette, which also recorded electrical re

242 ogramming and SMC lineage differentiation of somatic patient cells with germline mutations was a viab

243 pfsSNVs), a pan-cancer analysis revealed 142 somatic pfsSNVs in five or more cancer types.

244 tion to contribute to complex behavioral and somatic phenotypes.

245 ng advantage of naturally occurring X-linked somatic PIGA mutations in hematopoietic stem and progeni

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

247 mic analyses of human cancers have cataloged somatic point mutations thought to initiate tumor develo

248 Overall, 193 unique somatic point mutations were identified.

249 cer (OV), the bulk of genetic changes is not somatic point mutations, but rather somatic copy-number

250 etion of Kv1.1; however, spike modulation by somatic prepulses was abolished.

251 g further prolongation by brief depolarizing somatic prepulses.

252 The most common CBCL syndrome was somatic problems (21%, 20-23), whereas the most common D

253 n CUP and that most patients harbor a unique somatic profile with pharmacologically actionable altera

254 which ranged between 100-800 microm from the somatic recording site.

255 Here, we generated germline and somatic reference genome sequences of the DNA eliminatin

256 n the F1 generation were related to in utero somatic reprogramming.

257 trate the utility of this approach to detect somatic retrotransposition events in high-grade ovarian

258 Examination of 1 individual indicated that somatic reversions were postnatally selected.

259 Relying on the somatic rubber hand illusion, we manipulated hand owners

260 -targeted reporter assay in Drosophila ovary somatic sheet (OSS) cells [1].

261 A rats again developed naloxone-precipitated somatic signs of withdrawal and spontaneous withdrawal-i

262 Somatic silencing does not require somatic nuclear RNAi

263 ole-genome sequencing to perform genome-wide somatic single-nucleotide variant (sSNV) identification

264 d 15 EGFR-TKI-resistant patients to identify somatic SNVs, small indels, CNVs and gene fusions in 508

265 perior and inferior colliculi, but potential somatic specializations indicate that the somatosensory

266 gate the specific role played by dyskerin in somatic stem cell maintenance.

267 the potent combination of psychotherapy and somatic stimulation in treating symptoms of endometriosi

268 translocations as well as a constellation of somatic structural DNA alterations in acute lymphoblasti

269 Large-scale identification of somatic structural variations (SVs) for a specific cance

270 ed probabilistic approach, PSSV, to identify somatic structural variations from WGS data.

271 n most sexually reproducing plants, a single somatic, sub-epidermal cell in an ovule is selected to d

272 ly applied to breast cancer data to identify somatic SVs of key factors associated with breast cancer

273 sample, enabling the identification of those somatic SVs with heterozygous mutations in normal sample

274 ls, limit reliable and accurate detection of somatic SVs.

275 Somatic symptom disorder, substance-related and addictiv

276 by OSK, recruiting Hdac1, and repressing the somatic TF Fra1.

277 enome-wide by inducing the redistribution of somatic TFs away from somatic enhancers to sites elsewhe

278 enes, not directly associated with embryonic somatic tissue genesis, is the one that encodes the spec

279 across adults and differences in TL between somatic tissues are largely established in early life.

280 Telomere length (TL) trajectories in somatic tissues during human growth and development are

281 A synthesis and mobilization by lipolysis in somatic tissues on oocyte fate in Caenorhabditis elegans

282 ing, we find that mitochondria of many adult somatic tissues, including brain, heart, and kidneys, ar

283 ation causes exhaustion of lipid reserves in somatic tissues.

284 ze that E2 facilitates the effect of BMP2 on somatic to granulosa cell transition.

285 Somatic transposition in mammals and insects could incre

286 lar artefacts are often mistaken for genuine somatic transposition.

287 r from a c.104T>C carrier revealed a second, somatic, truncating mutation affecting PALB2, and the tu

288 Additional research related to variations in somatic tumor genomics between the African-American and

289 nostic biopsy to detect clonally represented somatic tumor mutations and is a real-time and noninvasi

290 s in mutation loads were seen with different somatic variant calling methodologies, which, in turn, i

291 Such rare somatic variants dominate the landscape of genomic mutat

292 Finally, analysis of somatic variants in >6500 cancer exomes shows that putat

293 val biopsy samples from 17 patients, we used somatic variants in hypermutable DNA regions to reconstr

294 Myeloid mutation panels have identified somatic variants in patients with a provisional diagnosi

295 mage directly confounds the determination of somatic variants in these data sets.

296 associated variants and previously described somatic variants in vascular overgrowth syndromes, we em

297 Grape (Vitis vinifera) color somatic variants that can be used to develop new grapevi

298 ing has proven valuable for the detection of somatic variation, particularly in the context of tumor

299 Although cancer is typically associated with somatic variations, advances in DNA sequencing indicate

300 Somatic X dosage compensation requires two mechanisms: X