ライフサイエンスコーパス: somatically

1 xcept for most cancer mutations, which arise somatically.

2 ll lineages and reveal how antibodies evolve somatically.

3 , in which homologous chromosomes are paired somatically.

4 codes a single transcript which is expressed somatically.

5 these cases, competency stages are inherited somatically.

6 bridge cycles generate dicentric chromosomes somatically.

7 and other hypoproliferative anemias may have somatically acquired 5q deletions with RPS14 haploinsuff

8 Germline and somatically acquired ALK aberrations induce increased au

9 tle imbalances were detected that are likely somatically acquired alterations and include genes invol

10 Somatically acquired alterations at chromosome arms 3p a

11 omplexity of transcript regulation caused by somatically acquired alterations.

12 hey also represent the first human report of somatically acquired altered stromal TGF-beta signaling

13 entifies and characterizes a wide catalog of somatically acquired and undescribed extrachromosomal ci

14 dissected tissues, we show that TGFBR1*6A is somatically acquired by stromal and epithelial cells adj

15 congenital or perinatal lethal disorders to somatically acquired cancers.

16 easurement and single-molecule sequencing of somatically acquired carcinogenic translocations at extr

17 roximately 220 kb in length and represents a somatically acquired change in the primary breast cancer

18 Cancers arise as the result of somatically acquired changes in the DNA of cancer cells.

19 Nonrandom and somatically acquired chromosomal translocations can be i

20 lymphoma, and leukemia are characterized by somatically acquired chromosome translocations that resu

21 An average of 1.14 somatically acquired CNAs per patient were observed.

22 Human neuroblastomas are characterized by somatically acquired copy number changes, including loss

23 of myelodysplastic syndrome, is caused by a somatically acquired deletion of chromosome 5q, which le

24 Somatically acquired epigenetic changes are present in m

25 ated a system whereby PML-RARA expression is somatically acquired from the mouse Pml locus in the con

26 ic loss of 18q markers and in one of these a somatically acquired G-->T missense mutation was found i

27 Somatically acquired genetic abnormalities lead to the s

28 lastic syndromes (MDS) is driven by diverse, somatically acquired genetic abnormalities.

29 biology of neuroblastoma is characterized by somatically acquired genetic events that lead to gene ov

30 All identified somatically acquired genetic lesions were backtracked to

31 Cancer arises through accumulation of somatically acquired genetic mutations.

32 And some somatically acquired genetic variants direct the choice

33 Human cancers often carry many somatically acquired genomic rearrangements, some of whi

34 We have previously shown that TGFBR1*6A is somatically acquired in head and neck and colon cancer (

35 Further study of one insertion, somatically acquired in primary leukaemia tumour genomes

36 ariants can be enhanced by including defined somatically acquired lesions as an additional input.

37 Somatically acquired missense mutations were observed in

38 Somatically acquired mitochondrial DNA mutations predisp

39 espite these physical barriers, we show that somatically acquired mitochondrial-nuclear genome fusion

40 lorectal cancer, and the firstmouse model of somatically acquired MMR-deficient colorectal cancer.

41 Yet the genomic landscape of somatically acquired molecular alterations in airway epi

42 ical malignancies frequently associated with somatically acquired mutation of the JAK2 gene.

43 aternally inherited diseases; maternally and somatically acquired mutations also accumulate over time

44 cent cancer sequencing studies also revealed somatically acquired mutations and deletions in ribosoma

45 e largest public resource for information on somatically acquired mutations in human cancer and is av

46 We investigated the role of large-scale somatically acquired mutations in mitochondrial DNA (mtD

47 Somatically acquired mutations in PHF6 (plant homeodomai

48 performed whole-exome sequencing to identify somatically acquired mutations in six patients who had p

49 n 194 high-risk neuroblastoma samples showed somatically acquired mutations in the tyrosine kinase do

50 we report that ASC tumors frequently harbor somatically acquired mutations in the UPF1 gene, which e

51 Parental tumour and MFD-1 carried four somatically acquired mutations in three recurrent mutate

52 h cis-acting inherited genetic variation and somatically acquired mutations in trans-acting repressor

53 other cancers, is characterized by multiple somatically acquired mutations that affect genes of diff

54 is that older plants may not pass along more somatically acquired mutations to their offspring.

55 at the SPEN locus and that 3% to 4% harbored somatically acquired mutations.

56 line mutation of the related gene PIGT and a somatically acquired myeloid common deleted region (CDR)

57 Cancer is driven by somatically acquired point mutations and chromosomal rea

58 sequencing data from 660 cancer samples for somatically acquired pseudogenes.

59 We identified 19,166 somatically acquired retrotransposition events, which af

60 Somatically acquired structure variations (SVs) and copy

61 Somatically acquired SV may regulate the expression of t

62 Somatically acquired translocations play a major role in

63 The somatically acquired V600E mutation of the BRAF gene has

64 Somatically acquired, activating mutations of GNAS, the

65 uch studies lies in correctly distinguishing somatically acquired, cancer-specific lesions from patie

66 a remodeled replication origin, inherited or somatically acquired, provides a survival advantage and

67 s, and that activating mutations can also be somatically acquired.

68 C to T transition mutation was proven to be somatically acquired.

69 Copy number abnormalities (CNAs) such as somatically-acquired chromosomal deletions and duplicati

70 ganization of c-Myc but many had one or more somatically-acquired MuLV proviral integrations that wer

71 Somatically-acquired translocations may serve as importa

72 Here we used a somatically activatable mutant Kras-driven model of mous

73 Targeting somatically activated oncogenes has revolutionized the t

74 by an array of diverse pathogens but lack a somatically adaptive immune system.

75 odulated excitatory and inhibitory inputs to somatically aligned, morphologically realistic pyramidal

76 ve identified many genes that are frequently somatically altered across multiple tumour types, sugges

77 tumor suppressor gene is the most frequently somatically altered gene in human cancers.

78 ing approaches to exploring the functions of somatically altered genes in cancer.

79 The most prevalent genes somatically altered in metastatic cancer included TP53,

80 HRAS, APC, PIK3CA and GNAQ were recurrently somatically altered in SDC.

81 ddition, the PTPRJ gene has been shown to be somatically altered in several human cancer types such a

82 confer better survival for tumor cells when somatically amplified.

83 F-V600E kinase-activating mutation, which is somatically and clonally present in almost all patients

84 The repeats expand both somatically and on intergenerational transmission and in

85 lease of several key factors, which act both somatically as hormones and within the brain as neuromod

86 ; and instead of V(D)J recombination VLR are somatically assembled by a gene conversion process.

87 Highly diverse VLR genes are somatically assembled by the insertion of variable LRR s

88 We found that a somatically biased gradient of K(v)1 channels underlies

89 ors are encoded in the germline or generated somatically by gene rearrangement.

90 repeats and that the duplication is mediated somatically by homologous recombination between the flan

91 that the Ph1 locus acts both meiotically and somatically by reducing non-homologous centromere associ

92 DNA (RAPD) markers, conclusively showed that somatically compatible isolates are not necessarily gene

93 carry this germline compound deletion, with somatically decreased tumour USF3 expression.

94 e studies demonstrate that it is feasible to somatically delete a large chromosomal segment implicate

95 eted validation studies further confirm that somatically deleted genes function both in adult (meioti

96 Furthermore, when Wnt7b is somatically deleted in macrophages, repair of injury is

97 Therefore, such a somatically derived chimeric chromosome can also be heri

98 t prospective isolation of a wide variety of somatically derived stem cells has affirmed the notion t

99 (SE), primitive zygotic (EC), embryonal-like somatically differentiated (TE), and extra-embryonally d

100 of jawed vertebrates, that clonally express somatically diversified antigen receptors termed variabl

101 invertebrate defense molecules because it is somatically diversified by gene conversion and point mut

102 ly of V structures resembling those that are somatically diversified in adaptive immunological respon

103 ess adaptive immune systems based on a vast, somatically diversified repertoire of lymphocyte-bound a

104 they are proliferating and the Ig genes are somatically diversified.

105 ut 1-2 mo of age nearly all Ig VDJ genes are somatically diversified.

106 examined the extent to which VDJ genes were somatically diversified.

107 Ig VDJ genes in rabbit somatically diversify by both hyperpointmutation and gen

108 adaptive immune system in which lymphocytes somatically diversify their variable lymphocyte receptor

109 bit establishes its primary Ab repertoire by somatically diversifying an initial repertoire that is l

110 ased adaptive immune system that is based on somatically diversifying leucine-rich repeat (LRR)-based

111 that intestinal microflora are required for somatically diversifying the Ab repertoire.

112 Asexual animals maintain telomere length somatically during reproduction by fission or when regen

113 , we explored the extent to which they occur somatically during tumorigenesis.

114 We show that Lar acts somatically early in oogenesis, during follicle formatio

115 y and infectivity of a novel retrovirus that somatically emerged during melanoma formation.

116 The mechanisms by which B cells somatically engineer their genomes to generate the vast

117 Pairing the test input with somatically evoked action potentials mimicked this form

118 o eliminated striatal mutant huntingtin with somatically expanded glutamine tracts and caused an appr

119 Dnmt1o is a variant form of the somatically expressed Dnmt1 cytosine methyltransferase t

120 We isolated the D. virilis orthologs of the somatically expressed gene, alpha4_dm, and the testes-sp

121 RME1 is activated in many human cancers, and somatically expressed MEILB2-BRME1 impairs mitotic HR.

122 their ability to transduce the activity of a somatically expressed TGF-beta ligand, the BMP5/8 orthol

123 The model allowed us to somatically extinguish or induce dystrophin gene transcr

124 the ability of granule cell axons to convey somatically generated action potentials to distant synap

125 Somatically generated APs actively backpropagated into t

126 Here, we demonstrate that the somatically generated CDR3 loops can markedly alter evol

127 ut that this reactivity is fine-tuned by the somatically generated CDR3 loops.

128 e prenegative selection TCR repertoire, many somatically generated complementary-determining region (

129 inidomains generated through combinations of somatically generated disulfides.

130 ncluding the genes for lymphoid Ag receptors somatically generated from germline minigenes.

131 s are not germline encoded; rather, they are somatically generated in each developing lymphocyte by a

132 ved RFs, we previously demonstrated that the somatically generated light chain complementarity-determ

133 neural cells throughout the neuraxis showing somatically generated mosaic aneuploidy indicates that t

134 residues as well as the enhanced presence of somatically generated proline residues that preclude hyd

135 In principle, either germline-encoded or somatically generated sequences could function as target

136 eural cell survival, providing evidence that somatically generated, cell-autonomous genomic alteratio

137 ocessed pseudogenes, but whether this occurs somatically has not been evaluated.

138 Although they are somatically heritable, modifications of DNA and histones

139 lity of their nontransformed counterparts to somatically hypermutate Ig V genes by nucleotide substit

140 that both Pms2- and Mlh1-deficient mice can somatically hypermutate the Ig test gene at approximatel

141 mutations [TP53abs]), and the expression of somatically hypermutated (M-CLL) or unmutated immunoglob

142 -cell receptor repertoire is oligoclonal and somatically hypermutated and shares similar clonal group

143 ity, neutralizing antibodies by selection of somatically hypermutated B cell antigen receptors (BCR)

144 lts from the selection of B cells expressing somatically hypermutated B cell receptors (BCRs) with in

145 ines was introduced based on the analysis of somatically hypermutated donor-derived repertoires.

146 Clonally expanded, somatically hypermutated IgM+ and IgG1+ CSF B cells were

147 pecific MBCs consisted of three populations: somatically hypermutated immunoglobulin M(+) (IgM(+)) an

148 m of GC-derived B cells than any other known somatically hypermutated non-Ig gene.

149 nge experiments revealed that high affinity, somatically hypermutated Plasmodium-specific IgM(+) MBCs

150 Somatically hypermutated VHDJH rearrangements were signi

151 These cells are clearly somatically hypermutated, albeit modestly.

152 ction is essential for the generation of the somatically hypermutated, high-affinity antibodies that

153 gencDNAs arise somatically in an individual to produce multiple copies;

154 (L597V)BRAF mutations are acquired somatically in human cancer samples and are frequently c

155 me FGFR3 mutations have also been identified somatically in human cancers, including multiple myeloma

156 tic and developmental disorders and to arise somatically in many cancers.

157 Mutations in the c-KIT receptor occur somatically in many sporadic Gastrointestinal Stromal Tu

158 n most likely arose either during meiosis or somatically in small sectors of the plant.

159 The element appears to be very mobile somatically in the inbred line V26, with 38% of plants f

160 nstitutionally in the general population and somatically in the majority of cancers.

161 two X-linked tumor suppressor genes that are somatically inactivated by single genetic hits.

162 OPCML is frequently somatically inactivated in EOC by allele loss and by CpG

163 NF1 was the only gene that was recurrently somatically inactivated in multiple tumors.

164 first showed that KLF6 is a tumor suppressor somatically inactivated in prostate cancer and since the

165 By somatically inactivating Lkb1 with K-Ras activation (+/-

166 rthermore, using tetracycline regulation, we somatically induced human GAA in the knockout mice, and

167 Both germline and somatically induced p63 deficiency activates widespread

168 Somatically inducible Cre lines are used extensively to

169 rent conditions that might occur in vivo, we somatically injected aperiodic current waveforms into co

170 Furthermore, mutant genes are introduced somatically into animals, as occurs in the majority of n

171 e, encompasses a CTCF insulator, and spreads somatically into the H19 gene.

172 +) B cells and found that 24 (6.5 %) contain somatically introduced insertions or deletions.

173 LEOPARD syndrome frequently carry a second, somatically introduced subset of missense mutations in S

174 orebrain neurones under voltage clamp from a somatically located patch-clamp pipette.

175 f the two genomic loci encoding miR-101 were somatically lost in 37.5% of clinically localized prosta

176 at autosomal testis-biased miRNAs tend to be somatically male-biased, whereas autosomal ovary-biased

177 IgG2) and IgA antibodies arose from the same somatically matured B cell.

178 ng regions (CDRs) 1 and 3, both germline and somatically matured V regions displayed significant stru

179 structurally characterized the germline and somatically matured versions of a type II variable (V) r

180 d sources of microDNA in the adult brain are somatically mosaic for microdeletions that appear to ari

181 Such somatically mosaic parents might also have germline mosa

182 etogenesis result in a greater proportion of somatically mosaic transmitting mothers who are thus at

183 at B cells of the putative fetal lineage can somatically mutate and diversify an initially limited re

184 c PAHA created a B cell population primed to somatically mutate and Ig class switch when subjected to

185 tem that lethally mutate viral pathogens and somatically mutate immunoglobulins, and contribute to th

186 Antibodies somatically mutate to attain high affinity in germinal c

187 u) sequences were identified and found to be somatically mutated (range, 1.4% to 6.5%), with a low le

188 The donors had all mounted somatically mutated Abs toward PC using a broad variety

189 from CD138(+) cells in MS CeSF has revealed somatically mutated and expanded IgG clonotypes consiste

190 Notably, bNAbs are highly somatically mutated and generated by a fraction of HIV-1

191 and IgG3 antibodies in the mice were highly somatically mutated and used distinct repertoires of VH

192 tent with the x-ray crystal structure of the somatically mutated anti-Ars Ab 36-71, while Sulf bindin

193 knock-in mouse that expresses V regions of a somatically mutated anti-Id mAb with intermediate affini

194 Panels of somatically mutated antibodies encoded by a common VH ge

195 y a tyrosine in the heavy chain along with a somatically mutated arginine residue.

196 , we identified 68 genes that appeared to be somatically mutated at elevated frequency, many of which

197 Although somatically mutated autoantibodies are characteristic of

198 on competitive selection of B cells carrying somatically mutated B-cell receptors by follicular helpe

199 We have recently demonstrated that a novel somatically mutated B220(-) memory B cell subset rapidly

200 These nonsecreting somatically mutated B220(-) memory responders rapidly do

201 ing (bn) Abs and that identification of less somatically mutated bn Abs may help in the design of eff

202 on between IgH and Igbeta, both of which are somatically mutated by AID.

203 p between the genes involved in OGID and 260 somatically mutated cancer driver genes (p = 1.75 x 10(-

204 Discovery of somatically mutated cells in human tissues has been less

205 rodegenerative diseases may often begin from somatically mutated cells.

206 in heavy and light chains in 6 patients with somatically mutated CLL-cell immunoglobulin genes and id

207 elopment of AML in patients with t(8;21) and somatically mutated DHX15.

208 We identified CSDE1 as a somatically mutated driver gene, complementing four know

209 This analysis links four somatically mutated genes associated with diverse oncolo

210 ns in this autoimmune disease are encoded by somatically mutated genes in the patients' incipient can

211 Among all somatically mutated genes, CREBBP mutations were most si

212 tides were recovered from non-immunoglobulin somatically mutated genes.

213 tantial contribution to total diversity from somatically mutated germline encoded CDRs 1 and 2.

214 ration of B cells and plasma cells producing somatically mutated gut antigen-specific IgA antibodies

215 ia (PNH) lack GPI proteins on the surface of somatically mutated hematopoietic stem cell and its prog

216 entarity-determining region 2 (HCDR2) of the somatically mutated high-affinity anti-p-azophenylarsona

217 Somatically mutated high-affinity autoantibodies are a h

218 This population of somatically mutated HSC, which initiates and sustains MP

219 hogens as functional ligands for a subset of somatically mutated human B cell lymphomas.

220 ells, considered to be memory cells based on somatically mutated Ig genes, we found that the reductio

221 that have frequently acquired rearranged and somatically mutated Ig genes.1,2 Despite their B-cell or

222 tion to the marginal zone, the expression of somatically mutated Ig V region genes, and the preferent

223 cells have been shown in some cases to have somatically mutated Ig variable region genes, indicating

224 ice and demonstrate that after re-infection, somatically mutated IgM(+) memory B cells function as fi

225 (PB) IgM(+)IgD(+)CD27(+) B lymphocytes with somatically mutated IgV genes are controversially discus

226 We found somatically mutated IgV(H) genes in 24 (73%) of 33 sampl

227 ization to mucosal epithelium, expression of somatically mutated immunoglobulin (Ig) variable (V) reg

228 indicated that a fraction of B-CLL displays somatically mutated immunoglobulin variable heavy chain

229 istinguished as carrying either unmutated or somatically mutated immunoglobulins (Igs), which are ass

230 We found that PIK3R1 was somatically mutated in 43% of EECs and 12% of NEECs.

231 ylation during embryogenesis and is commonly somatically mutated in acute myeloid leukemia.

232 ies that broadly neutralize HIV-1 are highly somatically mutated in antibody clonal lineages that per

233 PIGA is somatically mutated in blood cells from patients with pa

234 arbor germline mutations; the same genes are somatically mutated in CMM, or their encoded proteins ar

235 may aid the identification of genes that are somatically mutated in essential thrombocytosis.

236 The tumor suppressor p53 is somatically mutated in half of all human cancers.

237 are germ-line variants at FLT3 (a gene often somatically mutated in leukemia) associated with monocyt

238 APC(AS9) and the wild-type APC alleles were somatically mutated in most colorectal tumors from these

239 The p53 gene is somatically mutated in over half of all human cancers.

240 osophila gene capicua) on chromosome 19q was somatically mutated in six cases and that the FUBP1 gene

241 (FUSE) binding protein] on chromosome 1p was somatically mutated in two tumors.

242 ly mutated predisposition genes and 20 genes somatically mutated in Wilms tumour is limited, consisti

243 ived beta-gal+ B cells exclusively contained somatically mutated lambda1 V regions and were capable o

244 sing from EF sites, followed by GC producing somatically mutated memory B cells (MBC) and long-lived

245 The somatically mutated memory hybridoma, M3C65, possesses h

246 In addition, many of these genes are somatically mutated or deleted in various cancers.

247 pha exposure creates an environment in which somatically mutated preleukemic stem cell clones are sel

248 cans were recognized by germline-encoded and somatically mutated residues on the Ab heavy chain.

249 ant cooperativity was found between pairs of somatically mutated residues.

250 In those CLLs defined by somatically mutated V(H) genes, 4 of 9 cases predictivel

251 ertion and four deletion events in otherwise somatically mutated VH gene cDNA molecules.

252 All cases were somatically mutated with an intraclonal variation.

253 V(H) genes were somatically mutated with no evidence of intraclonal vari

254 nd VH1 (1 of 5) families and were all highly somatically mutated with strong evidence for antigen sel

255 ch was efficiently recognized by the mature (somatically mutated) antibodies.

256 The lupus-associated, somatically mutated, and class-switched pathogenic autoa

257 i-Dsg response is restricted in V(H) use, is somatically mutated, and is Ag selected.

258 ined in overrepresented populations and were somatically mutated, consistent with an antigen-targeted

259 The cloned anti-talin-H IgGs were highly somatically mutated, indicative of an antigen-driven, af

260 Multiple myeloma (MM), a malignant tumor of somatically mutated, isotype-switched plasma cells (PC),

261 These antibodies were highly somatically mutated, which was indicative of an affinity

262 All were somatically mutated, with a mean deviation from germline

263 ce analysis revealed that the Abs are highly somatically mutated, with high replacement to silent rat

264 The genes were all isotype-switched and somatically mutated.

265 lele, designated 51p1, 163 of which were not somatically mutated.

266 m line counterparts indicated that they were somatically mutated.

267 cells may be either germ-line in sequence or somatically mutated.

268 ave undergone rearrangement and are commonly somatically mutated.

269 s of an A1d1a recombination event and occurs somatically on other CTVT mtDNA backgrounds.

270 ll as 1,586 non-germline DNMs arising either somatically or in the cell lines from which the DNA was

271 nation ensures genomic integrity while cells somatically rearrange their antigen receptor genes [in a

272 either germ line-encoded (CDR1 and CDR2) or somatically rearranged (CDR3).

273 btypes encoding their antigen receptors from somatically rearranged genes.

274 4(+) T cells and the intrinsic properties of somatically rearranged TCRs.

275 , is a more recent development that utilizes somatically recombined antigen receptor genes to recogni

276 Rs, and antibodies are the three lineages of somatically recombined antigen receptors.

277 the BTN2A1 CFG-IgV domain surface. Notably, somatically recombined CDR3 loops implicated in P-Ag rec

278 coded Vgamma4 CDR2 and HV4 loops, but not in somatically recombined CDR3 loops, drastically diminishe

279 t T22 recognition correlates strongly with a somatically recombined TCRdelta complementarity-determin

280 One contains two variable domains: a somatically recombined V and a prejoined V.

281 (TCRmu) that has V, D, and J that are either somatically recombined, as in conventional TCRs, or are

282 though we observed minimal alteration of the somatically recorded action potential waveform, action p

283 Surprisingly, somatically recorded action potentials also dramatically

284 Somatically recorded AOB synaptic inputs had slower kine

285 g spontaneous slow oscillatory activity that somatically recorded delta (1-4 Hz) and slow (<1 Hz) osc

286 KChIP proteins supports the hypothesis that somatically recorded native Kv4 channels in neurons incl

287 The kinetic properties of the somatically recorded postsynaptic current are correlated

288 variable electrotonic distances that distort somatically recorded synaptic currents, it is not known

289 to ~20-fold in the remaining phytochromes in somatically regenerated PHYA1 RNAi cotton plants.

290 Among these, we identified J9 and J8, two somatically related bNAbs that potently neutralized DENV

291 Two somatically related human antibodies, PG9 and PG16, howe

292 Twelve somatically related neutralizing antibodies (CAP256-VRC2

293 tal and neonatal B cell repertoires, and are somatically selected.

294 Ten somatically sequenced patients had deleterious alteratio

295 ved germline variants were more likely to be somatically shared than were ancient germline ones.

296 These results indicate that somatically synthesized BDNF promotes spine formation, w

297 We use the rodent malaria P. yoelii, and somatically transinfected An. stephensi as a model syste

298 d any significant [Ca2+] increase depends on somatically triggered Na+ action potentials.

299 sorder caused by expansion of a germline and somatically unstable CTG repeat in the DMPK gene.

300 The HD CAG repeat is somatically unstable, undergoing progressive length incr