ライフサイエンスコーパス: chromosomal

1 Chromosomal aberrations (CAs) in blood lymphocytes have

2 Chromosomal aberrations are a hallmark of human cancers,

3 increased frequency of chromosomal aberrations in blood lymphocytes was signifi

4 of replication stress-induced DNA breaks and chromosomal aberrations in BRCA1/2-deficient cells.

5 %, as well as significant induction of gross chromosomal aberrations in thyroidal TPC-1 cells followi

6 It is revealing that many chromosomal aberrations, some associated with malignanci

7 lting in impaired HR and the accumulation of chromosomal aberrations.

8 NA replication forks, engendering structural chromosomal aberrations.

9 nd B-other ALL, that is, lacking established chromosomal abnormalities (5.6%; 43 of 772 B-other cases

10 espite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization

11 Although it is known that gross chromosomal abnormalities are remarkably common in early

12 compared the genome-wide distribution of the chromosomal abnormalities in both sexes.

13 Two additional perineurioma cases had large chromosomal abnormalities in multiple chromosomes, inclu

14 Clonal chromosomal abnormalities in Philadelphia chromosome-neg

15 Among singleton pregnancies without chromosomal abnormalities lasting >/=20 weeks in Denmark

16 tumor genetic heterogeneity in neuroblastoma.Chromosomal abnormalities such as 11q deletion are assoc

17 these carried copy number variations and/or chromosomal abnormalities, emphasizing the importance of

18 opoietic stem cells (HSC) is associated with chromosomal abnormalities, genomic instability, and HSC

19 ypes in 17 subjects with apparently balanced chromosomal abnormalities.

20 Chromosomal accessibility assays can connect accessible

21 Instead, EpSCs maintain chromosomal accessibility at key stress response genes t

22 ucial role in proper centrosome positioning, chromosomal alignment, and centrosome number.

23 abolites disturbed the spindle structure and chromosomal alignment, which was associated with signifi

24 ost importantly, using pathway-specific mutS chromosomal alleles that specifically abrogate either re

25 this approach to characterize aneuploidy and chromosomal alterations from a series of primary colorec

26 ns of RNA exosome during CSR, SHM, and other chromosomal alterations in B cells, and discuss implicat

27 iciency markedly increases the proportion of chromosomal alterations in pancreatic primary tumors and

28 d growth, trisomic cells acquired additional chromosomal alterations that were largely absent from th

29 lutionary leaps, often involving large-scale chromosomal alterations, in driving tumor evolution and

30 ation analyses mapped the emergence of extra-chromosomal amplification in parallel evolutionary traje

31 tumoural heterogeneity more effectively than chromosomal amplification.

32 requently aberrant DNA methylation, abundant chromosomal amplifications and deletions, and mutational

33 on data on autosomal and uniparental loci (Y-chromosomal and mitochondrial DNA).

34 e more genetically unstable due to increased chromosomal aneuploidy and more aggressive.

35 ng method for neural tube defects and common chromosomal anomalies during prenatal care.

36 ic testing has led to increased detection of chromosomal anomalies early in pregnancy.

37 at 10 years and was shorter in patients with chromosomal anomalies, older age, a greater number of co

38 g surgical repair at <7 days of life, lethal chromosomal anomaly, death within 48 hours, inability to

39 ulatory sequences interact in the context of chromosomal architecture is a central challenge in biolo

40 Here we compared the chromosomal architectures of fetal and adult human eryth

41 rent subnuclear positions and adopt distinct chromosomal architectures that reflect their activity st

42 red for interactions between Taz1-associated chromosomal arm regions and telomeres.

43 led prominent contacts between telomeres and chromosomal arm regions containing replication origins p

44 8 expressed in vegetative cells localizes to chromosomal arms and to the centromere core, where it is

45 ch PRDM9-bound hotspot DNA is brought to the chromosomal axis by the action of these proteins, ensuri

46 tion suggests the existence of an underlying chromosomal axis that serves as a scaffold for Zhp3 and

47 erly MEN2A, MEN2B) proto-oncogene located on chromosomal band 10q11.21.

48 R also affects global gene expression with a chromosomal bias from origin to terminus, which is assoc

49 ning promoters, and we further discover that chromosomal binding of Fbxl19 is required for H2Bub1 of

50 little is known about cohesion at individual chromosomal binding sites and how transcription affects

51 RAD52 promotes stalled fork degradation and chromosomal breakage in BRCA2-defective cells.

52 Analysis of the chromosomal breakage regions suggests a sequence-indepen

53 so induced unrestrained fork progression and chromosomal breakage, suggesting fork remodeling as a gl

54 sal prevents fork degradation, but increases chromosomal breakage, uncoupling fork protection, and ch

55 lding preferences of oligonucleotides from a chromosomal breakpoint hotspot in the human c-MYC oncoge

56 Chromatin organization can be probed by Chromosomal Capture (5C) data, from which the encounter

57 rt sites are associated with distal or inter-chromosomal caRNAs.

58 In Vibrio cholerae, three chromosomal clusters each encode a pair of effector and

59 ohesin enables Scc2 to move rapidly from one chromosomal cohesin complex to another, performing a fun

60 relative to cohesin, and a high affinity for chromosomal cohesin enables Scc2 to move rapidly from on

61 tural models reveal a radial architecture of chromosomal compartments with distinct epigenomic signat

62 osomes, it seems to diffuse out once meiotic chromosomal condensation is completed.

63 Advanced chromosomal conformation capture techniques, such as Hi-

64 With the development of chromosomal conformation capturing techniques, particula

65 tify cell-to-cell heterogeneity in mammalian chromosomal conformation.

66 us-specific disintegration of megabase-scale chromosomal conformations in brain after neuronal ablati

67 tethered conformation capture, can generate chromosomal contact data that can be used to computation

68 exploiting the resemblance between TADs in a chromosomal contact map and densely connected modules in

69 From a visual examination of the chromosomal contact map, however, it is clear that the o

70 hm, MrTADFinder, to identify TADs from intra-chromosomal contact maps.

71 We introduce a novel method to represent chromosomal contacts as features to be used by the clust

72 Our results indicate that chromosomal contacts' maps could uncover functionally an

73 t insertion can be both Tel1-independent and chromosomal context-dependent.

74 putative regulatory elements in their native chromosomal context.

75 ly transcription factors within their native chromosomal context.

76 The two chromosomal copies of the human genome are highly polymo

77 Next-generation sequencing analysis of chromosomal copy number changes and mutations is useful

78 In clonally related tumors, chromosomal copy number changes were more reliable than

79 Chromosomal copy number variation (CNV) refers to a poly

80 A corroborative pattern between the chromosomal copy number variation profiles of the AH cfD

81 n Illumina platform, followed by genome-wide chromosomal copy number variation profiling to assess th

82 Here we report the identification of chromosomal copy-number amplification at 1q21.3 that is

83 In chromosomal cores, S. paradoxus shows faster accumulatio

84 find enrichment of protein-mediated, dynamic chromosomal cross-links recapitulates the segregation, m

85 the enrichment of protein-mediated, dynamic chromosomal crosslinks.

86 nd all implicated genes are localized to the chromosomal cytoband 1p36.3.

87 mutants display higher levels of spontaneous chromosomal damage and hypersensitivity to replication-b

88 Given their inherent gross structural chromosomal damage, we speculated that they may arise fr

89 Chromosomal deletions represent an important class of hu

90 studying chromosome physiology, and modeling chromosomal disorders.

91 e functions to generate interactions between chromosomal DNA and spindle microtubules [1].

92 In the model, the reported compaction of chromosomal DNA caused by SYCP3 would result from its ab

93 ssay, we show that 3MST-derived H2S protects chromosomal DNA from oxidative damage.

94 son and Crick strands of the double-stranded chromosomal DNA in a single cell and to randomly partiti

95 s, single-strand gaps containing rNs, in the chromosomal DNA of the rnhAB mutant.

96 a nucleo-protein structure that can obstruct chromosomal DNA replication, especially under conditions

97 rols access of transcriptional regulators to chromosomal DNA via several mechanisms that act on chrom

98 NA sequencing confirmed that this segment of chromosomal DNA was not transcribed.

99 omere repeat element (SRE) regions to unique chromosomal DNA while simultaneously measuring the (TTAG

100 ing bacteriophage/plasmid DNA and endogenous chromosomal DNA within Escherichia coli at 37 degrees C.

101 fluence of new insertions toward neighboring chromosomal DNA.

102 ParA is an ATPase that binds to chromosomal DNA; ParB is the stimulator of the ParA ATPa

103 m for addressing how condensins target large chromosomal domains and how they function to regulate ch

104 CaTCH that identifies hierarchical trees of chromosomal domains in Hi-C maps, stratified through the

105 ad changes in DSB distributions across large chromosomal domains.

106 involves joining the ends from two different chromosomal double-strand breaks (DSBs).

107 mya5 and Fsd2 appear to have originated by a chromosomal duplication and are found within evolutionar

108 ty was assessed in Ts65Dn mice that harbor a chromosomal duplication syntenic to human chromosome 21q

109 Few studies have described chromosomal dynamics in bacterial cells with more than t

110 ructural role in the spatial organization of chromosomal elements with functional importance.

111 ome editing and combines ex vivo and in vivo chromosomal engineering to rapidly and effectively inter

112 ell lines (LCLs) that carry EBV DNA as extra-chromosomal episomes, express 9 latency-associated EBV p

113 uces haploid gametes through a succession of chromosomal events, including pairing, synapsis, and rec

114 regation of meiosis I, which also results in chromosomal exchanges.

115 Using a deep-sequencing method to measure chromosomal exonucleolytic degradation, we demonstrate t

116 ocus DNA sequence, climatic niche models and chromosomal features.

117 Conversely, knockdown of transformer in chromosomal females eliminates the female-specific Lon i

118 erved noncoding elements (CNEs) and that the chromosomal fission sites are further limited to long CN

119 se liver leads to a marked reorganization of chromosomal folding.

120 one marrow failure syndrome characterized by chromosomal fragility, progressive marrow failure, and c

121 This approach shed light on the chromosomal fusion underlying the linkage of mating-type

122 terized by N-Myc amplification and segmental chromosomal gains and losses.

123 f DNA damage and improved gene targeting and chromosomal gene conversion with either double-stranded

124 ession (ASE) - unequal expression of the two chromosomal gene copies.

125 , incomplete in humans: up to one-third of X-chromosomal genes are expressed from both the active and

126 We show that XCI at 683 X-chromosomal genes is generally uniform across human tiss

127 hat incomplete XCI affects at least 23% of X-chromosomal genes, identify seven genes that escape XCI

128 is characterized by wide variability in the chromosomal/genetic changes present in tumor plasma cell

129 t report describing epigenetic regulation of chromosomal HIF-1alpha turnover in gene activation that

130 Much of the statistical analysis of X-chromosomal information is complicated by the fact that

131 athway to propagate structural and numerical chromosomal instabilities.

132 Chromosomal instability (CIN) contributes to cancer evol

133 o evidence to support that [PSI (+)] induces chromosomal instability (CIN).

134 o search for gene signatures associated with chromosomal instability (CIN); we investigated associati

135 pt management of small melanoma might reduce chromosomal instability and could improve overall patien

136 The aneuploid cells display increased chromosomal instability and DNA damage, a mutator phenot

137 ) is a rare genetic disease characterized by chromosomal instability and impaired DNA damage repair.

138 bishield emergency program drives evasion of chromosomal instability and phagocytosis checkpoints by

139 ity in mouse thymi and small intestines, the chromosomal instability caused by Atf3 deficiency was la

140 We tested our hypothesis that targeting chromosomal instability in MM would improve response to

141 how that overexpression of Cyclin B1 induces chromosomal instability in mouse embryonic fibroblasts l

142 e constitutional MdnCNV phenomenon resembles chromosomal instability in various cancers.

143 Telomere shortening induces chromosomal instability that, in the absence of function

144 Genome doubling and ongoing dynamic chromosomal instability were associated with intratumor

145 phases of cellular transformation, exhibited chromosomal instability, and promoted increase in nuclea

146 cancer mouse models with persistent mitotic chromosomal instability, observing a decrease in prolife

147 repair pathway that protects the genome from chromosomal instability.

148 onical Hh signaling through the induction of chromosomal instability.

149 repton reduced liver overgrowth and signs of chromosomal instability.

150 severely compromised DSB repair resulting in chromosomal instability.

151 eukemia (AML) is frequently characterized by chromosomal instability.

152 bstacles in metabolic engineering, including chromosomal integration locus and promoter selection, as

153 Upon chromosomal integration, the hTERT, but not the mTert, r

154 ome and spindle function, and maintenance of chromosomal integrity.

155 dition to binding Pol II promoters, occupies chromosomal interacting domain (CID) boundaries and that

156 of genome structures, both intra- and inter-chromosomal interaction patterns from genome-wide 3C stu

157 onfinement is a key determinant of the intra-chromosomal interactions, and centromere tethering is re

158 omere tethering is responsible for the inter-chromosomal interactions.

159 rearrangements are often contained in large chromosomal intervals among several bystander genes.

160 s cancers, including Notch pathway mutations/chromosomal inversions in 5/5 liver metastases, irrespec

161 Local selection on chromosomal inversions may play a role in this process,

162 cRNA, which we named lnc18q22.2 based on its chromosomal location, correlated with NASH grade (r = 0.

163 ame microenvironments independently of their chromosomal location, suggesting that microenvironments

164 GI read pairs were mapped to distal or inter-chromosomal locations as compared to the locations of th

165 it used to regenerate rDNA at three distinct chromosomal locations.

166 Our approach first labels and tracks chromosomal loci in live cells with the CRISPR-Cas9 syst

167 ntified the mobility of a pair of homologous chromosomal loci in the interphase nuclei of Caenorhabdi

168 We examined the arrangement of chromosomal loci in the very large, highly polyploid, un

169 rvation in the context of the defined murine chromosomal loci ROSA26 and TIGRE.

170 Centromeres are unique chromosomal loci that promote the assembly of kinetochor

171 A chromosomal locus at 4q32.1 has been genome-wide signifi

172 f a sequence-specific single-copy endogenous chromosomal locus containing a DNA double-strand break (

173 down-regulating transcription of the entire chromosomal locus encoding the T3SS, further demonstrati

174 Chromatin isolated from the chromosomal locus of the PHO5 gene of yeast in a transcr

175 plex genetic basis that is specific for each chromosomal locus, and it can be inferred from detailed

176 ts in centromere establishment at an ectopic chromosomal locus, and maintain centromere function inde

177 rase-mediated release of torsional strain at chromosomal loop anchors generates DNA double-strand bre

178 We obtained evidence that chromosomal looping, bypassing 1524 kb of linear genome,

179 to CASZ1 nuclear-cytoplasmic shuttling in a chromosomal maintenance 1-dependent manner.

180 We tested the ploidy status of available chromosomal markers after the expected rediploidization.

181 Chromosomal markers on three diverse ploidy levels refle

182 account for the formation of distinct, multi-chromosomal, membrane-less heterochromatin domains withi

183 hereas the other half show evidence of trans-chromosomal methylation and demethylation as well as oth

184 e exomes (5 of 18 [27.8%]; P = .02) than for chromosomal microarray (8 of 101 [7.9%]).

185 NV) prediction pipelines and an exome-tiling chromosomal microarray were also applied to identify int

186 Our results support a model in which inter-chromosomal microtubules of the central spindle push chr

187 ion of 53BP1 induces mitotic defects such as chromosomal missegregation, misorientation of spindle po

188 Antibiotic resistance arising via chromosomal mutations is typically specific to a particu

189 On the basis of individual chromosomal mutations, risk for metastasis was increased

190 creasing levels of antibiotic depends on the chromosomal neighborhood of a drug-resistance gene inser

191 hroughput approach, we defined three sets of chromosomal non-essential genes essential for growth dur

192 Perturbing the longitudinal chromosomal organization by mutating the condensin SMC,

193 We studied the chromosomal organization of genes involved in male repro

194 A replication initiator protein remodels the chromosomal origin of replication, oriC, to load the rep

195 Chromosomal origin of the marker chromosomes were succes

196 we show that directly after replication both chromosomal origin regions localize to the future cell d

197 The chromosomal passenger complex (CPC) is a conserved, esse

198 The chromosomal passenger complex (CPC) localizes to centrom

199 During cytokinesis, the chromosomal passenger complex (CPC) promotes midzone org

200 Borealin is a major component of the Chromosomal Passenger Complex (CPC) with well-known func

201 The four-subunit chromosomal passenger complex (CPC), whose enzymatic sub

202 mes were not arranged on metaphase plate and chromosomal perturbations were observed when advance to

203 Extensive chromosomal polymorphisms largely resulting from chromos

204 r and intraplant variation in the number and chromosomal position of new insertions, which usually di

205 pression on the X chromosome depends on gene chromosomal position.

206 by passing CTCF sites, accumulates in axial chromosomal positions (vermicelli), and condenses chromo

207 assembly, albeit with loss of one of the two chromosomal products of a replication cycle.

208 ones, the linker histone H1, the non-histone chromosomal protein HMGN2, and the core histone variants

209 studies, often focusing on the regulation of chromosomal proteins like DNA polymerases or kinetochore

210 customized core histones, DNA sequences, and chromosomal proteins.

211 oriented in genetic bins ordered along nine chromosomal pseudomolecules.

212 e G-rich/G4 regions as demonstrated by gross chromosomal rearrangement assays.

213 A likely mechanism of chromosomal rearrangement formation involves joining the

214 utionary processes such as genome expansion, chromosomal rearrangement, and chromosomal translocation

215 mosomal polymorphisms largely resulting from chromosomal rearrangements (CRs) are widely documented i

216 icronuclei levels, the number of large-scale chromosomal rearrangements (LST), and the status of seve

217 )ribose polymerase 3 (PARP3) as promoters of chromosomal rearrangements across human cell types.

218 enomic region is particularly susceptible to chromosomal rearrangements and contains many genes cruci

219 In addition, we observed a higher number of chromosomal rearrangements and higher frequency of reten

220 ver outcome, thus avoiding the potential for chromosomal rearrangements and loss of heterozygosity.

221 Chromosomal rearrangements are essential events in the p

222 Chromosomal rearrangements are increasingly recognized t

223 l features that may point to the presence of chromosomal rearrangements as the primary disease cause.

224 In approximately 50% of prostate cancers, chromosomal rearrangements cause the fusion of the promo

225 riants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the

226 or detection of both balanced and unbalanced chromosomal rearrangements in primary human tumour sampl

227 -generation sequencing techniques to examine chromosomal rearrangements in primary murine B cells and

228 also identify multiple cases of catastrophic chromosomal rearrangements known as chromoanagenesis, in

229 Chromosomal rearrangements occur constitutionally in the

230 expression signature predominantly driven by chromosomal rearrangements of the ZNF384 gene with histo

231 Analyses revealed complex chromosomal rearrangements on chromosome 14q21-22 in una

232 unexpected CNV complexities, including inter-chromosomal rearrangements that cannot be resolved by aC

233 sulted via several other mechanisms, such as chromosomal rearrangements, deletion/insertion, transpos

234 reads can also be used to delineate complex chromosomal rearrangements, such as those that occur in

235 novel gene fusions caused by tumour-specific chromosomal rearrangements, whose oncogenic potential re

236 raction, possibly >50%, of mosaic diagnostic chromosomal rearrangements.

237 in the clinical interpretation of non-coding chromosomal rearrangements.

238 (sialic acid binding Ig-like lectin 5) and a chromosomal region downstream of the DEFA1A3 locus (defe

239 resulted in loss of heterozygosity, where a chromosomal region is represented by the genotype of onl

240 tion modulated the interaction of ErbB4 with chromosomal region maintenance 1 (CRM1), the major nucle

241 ng aberrant Pkhd1, but lacking the c3 and c4 chromosomal regions (NOD.Abd3), reproduces the immunopat

242 ovel risk loci for nsCL/P are identified (at chromosomal regions 2p21, 14q22, 15q24 and 19p13).

243 The chromosomal regions across the human orthologous were in

244 sion, as well as for fluorescence tagging of chromosomal regions and individual mRNAs to track their

245 s (TSF) are variable, being dependent on the chromosomal regions and potential competition with endog

246 spatial distributions of highly-transcribed chromosomal regions matching recent experimental measure

247 Chromosomal regions such as subtelomeres that show defec

248 PML NBs coordinate chromosomal regions via modification of nuclear proteins

249 common feature of eukaryote genomes is large chromosomal regions where recombination is absent or str

250 ting regulatory interactions across discrete chromosomal regions.

251 ession of genes located in amplified/deleted chromosomal regions.

252 telomeric sequence insertion (TSI) at intra-chromosomal regions.

253 nt loci met this threshold in eight distinct chromosomal regions.

254 We suggest that inter-chromosomal regulation loss may be a novel feature in br

255 Inter-chromosomal relationships between genes resulted strikin

256 on of tandem duplications at a site-specific chromosomal replication fork barrier imposed by the bind

257 widely-accepted semi-discontinuous model of chromosomal replication, instead supporting a fully disc

258 e reduces binding of CCCTC-binding factor, a chromosomal scaffolding protein, and increases histone a

259 ting that giant proteins may have evolved as chromosomal scaffolds that were co-opted for a similar p

260 method that leverages haplotypes to identify chromosomal segmental alterations in cancer and uses thi

261 Four particular chromosomal segments from C24 and 8 from Ler were presen

262 ning processes that led to the loss of large chromosomal segments surrounding site-specific DSBs at a

263 rangements and copy number changes affecting chromosomal segments.

264 rate of DNA replication fork progression and chromosomal shattering were also observed, suggesting re

265 nder the term 'NGS+' for typing Y-STRs and Y-chromosomal single nucleotide polymorphisms (Y-SNPs).

266 tion of meiotic recombination at a number of chromosomal sites by tethering the natural Spo11 protein

267 tion bursts accompanied by high diversity of chromosomal sites harboring new RT insertions.

268 olvement of difficult-to-replicate (fragile) chromosomal sites in this process.

269 tant insight as to how centrosome number and chromosomal stability can be affected by the E3 ligase t

270 stem cells (SSCs), which exhibited superior chromosomal stability compared with embryonic stem cells

271 anconi anemia (FA) ensure the maintenance of chromosomal stability during DNA replication.

272 s, we used high-resolution three-dimensional chromosomal structural data and transcriptional regulato

273 ts highlight the important interplay between chromosomal structure and disease and demonstrate the ne

274 tion factor CTCF is a candidate regulator of chromosomal structure.

275 of SUMO E3 ligases, as essential for mitotic chromosomal SUMOylation in frog egg extracts and demonst

276 dx2, Arid3a and Gata3), we interrogate their chromosomal target occupancies, modulation of global tra

277 elic stability, which allowed us to classify chromosomal targets of epigenetic regulation into (i) si

278 m enhancer-promoter or gene-gene contacts to chromosomal territorial arrangement.

279 that CES also correspond to boundaries of X-chromosomal topologically associated domains (TADs).

280 hese domains would be lost or disrupted by a chromosomal translocation event after amino acid 597, wh

281 AID and increased somatic hypermutation and chromosomal translocation frequency to the Igh locus and

282 transcriptionally as a result of the t(4;14) chromosomal translocation in a subset of patients with M

283 osarcoma is characterized by a pathognomonic chromosomal translocation that results in an oncogenic f

284 Using induced chromosomal translocation to pair barcodes representing

285 actors are commonly deregulated in cancer by chromosomal translocation, overexpression or post-transl

286 me expansion, chromosomal rearrangement, and chromosomal translocation.

287 ic development and its dysregulation through chromosomal translocations and loss-of-function mutation

288 genomic instability by initiating oncogenic chromosomal translocations and mutations involved in the

289 Chromosomal translocations are a genomic hallmark of man

290 t for the formation of the most common human chromosomal translocations in lymphoid malignancies, yet

291 wn as EVI1) proto-oncogene is deregulated by chromosomal translocations in some cases of acute myeloi

292 sive subset of human acute leukemia carrying chromosomal translocations of the MLL gene.

293 Recurrent chromosomal translocations producing a chimaeric MLL onc

294 K expression in nonneural cells results from chromosomal translocations that create novel fusion prot

295 , NTRK3, and RET gene fusions resulting from chromosomal translocations were identified.

296 dily detected circulating disease or canonic chromosomal translocations.

297 Maternally inherited 15q11-13 chromosomal triplications cause a frequent and highly pe

298 lls undergoing active transposon mobility or chromosomal uptake of autonomously replicating foreign m

299 We have analyzed Y-chromosomal variation in populations from Transoxiana, a

300 DNA binding by the Zn efflux repressor CzrA (chromosomal zinc-regulated repressor).