ライフサイエンスコーパス: chromosomal

1 Chromosomal 7p12 amplification, including the genes HUS1

2 neurons and astrocytes were primarily inter-chromosomal (80%).

3 fusion transcripts in human cortex are intra-chromosomal (85%), events found in single neurons and as

4 is clinical phenotype and a de novo balanced chromosomal aberration (BCA).

5 The chromosomal aberration patterns of the parental tumors w

6 ined olaparib/AZD6738 treatment induces more chromosomal aberrations and achieves this at lower conce

7 HGSC exhibits high rates of chromosomal aberrations and knowledge of causative mecha

8 The most frequent chromosomal aberrations associated with HSTCL are isochr

9 fy associations between driver mutations and chromosomal aberrations that define two tumor clusters,

10 lar systems analysis can be applied to other chromosomal aberrations to further our etiological under

11 ssion, resulting in extensive DNA damage and chromosomal aberrations.

12 Ultimately, this generates chromosomal abnormalities and the release of nuclear DNA

13 le-chromosome aneuploidies, we show that sub-chromosomal abnormalities in human blastocysts arise fro

14 DNA end resection, which increases NHEJ and chromosomal abnormalities, ultimately causing mitotic ca

15 oligo-FISH was used to characterize diverse chromosomal abnormalities.

16 y 10 to 20% of stillbirths are attributed to chromosomal abnormalities.

17 e entry, irrespective of TP53 alterations or chromosomal abnormalities.

18 r an infantile epilepsy, from the silenced X-chromosomal allele in human neuronal-like cells.

19 ed so far contain diverse large-scale mosaic chromosomal alterations (deletions, duplications and cop

20 We identified 19,632 autosomal mosaic chromosomal alterations and analysed these for relations

21 th clinical response, we discovered numerous chromosomal alterations associated with response or resi

22 ntire genome becomes vulnerable and multiple chromosomal alterations can form over a narrow time wind

23 ential role for human papillomavirus-induced chromosomal alterations in ovarian tumorigenesis, and th

24 ells on the basis of 33,250 autosomal mosaic chromosomal alterations that we detected in 179,417 Japa

25 this long-lived Japanese population, mosaic chromosomal alterations were detected in more than 35.0%

26 increases a tumor cell's ability to acquire chromosomal alterations, a mechanism by which tumor cell

27 Distinct genetic and chromosomal alterations, deletions, or duplications gene

28 skin squamous cell carcinomas (SCCs) display chromosomal alterations, with heterogeneous NOTCH1 gene

29 Focal chromosomal amplification contributes to the initiation

30 pervasive nature of genetic heterogeneity of chromosomal amplifications; and the association of copy

31 8 associations, including 286 autosomal, 7 X-chromosomal and 25 identified in ancestry-specific analy

32 I-F and/or I-E anti-CRISPR genes encoded on chromosomal and extrachromosomal MGEs within Enterobacte

33 during both mitosis and meiosis and regulate chromosomal and genomic dosage response.

34 g DNA damage and genetic instability in both chromosomal and mitochondrial DNA.

35 rform an integrated, continent-wide study of chromosomal and plasmid diversity.

36 e and penetrance of large autosomal CNVs and chromosomal aneuploidies using a standard CNV detection

37 Driver mutations and chromosomal aneuploidy are major determinants of tumorig

38 The Indian isolates have no chromosomal antimicrobial resistance cassette but carry

39 tumors comprise a separate cluster for which chromosomal-arm aneuploidy and driver mutations are mutu

40 initiation regions were evenly spaced along chromosomal arms and depleted in centromeres, while weak

41 interphase domains, and juxtapose bacterial chromosomal arms, as can be done by 'two-sided' loop ext

42 nted among donor genes and located away from chromosomal arms, which suggests a link between capture

43 lele and, after mitosis, loss of one or both chromosomal arms.

44 etailed description of both intra- and inter-chromosomal arrangements.

45 linearly integrate these sequences into the chromosomal assemblies and construct a Human Diversity R

46 ere, we overcome this hurdle by developing a chromosomal-barcoding technique that allows simultaneous

47 sites, three main QTL hotspots were found in chromosomal bins 2.02, 2.05-2.06, and 6.05 between the s

48 t sequencing analyses of CSR junctions and a chromosomal break repair assay indicated an impaired abi

49 dification increases S phase progression and chromosomal breakage.

50 ons (LST) are genomic alterations defined as chromosomal breakages that generate chromosomal gains or

51 ed DNA elimination encompasses high-fidelity chromosomal breaks and loss of specific genome sequences

52 ure to open DNA hairpins and accumulation of chromosomal breaks may reduce the proliferation and viab

53 blood and aqueous samples; tumor-associated chromosomal changes were found in 0/20 blood vs. 11/20 a

54 Efficient chromosomal clustering opens a window to characterize mo

55 Concomitant with DNA replication, the chromosomal cohesin complex establishes cohesion between

56 romere position may change despite conserved chromosomal collinearity.

57 g by DNA gyrase is essential for maintaining chromosomal compaction, transcriptional programming, and

58 ong non-coding RNA Xist establishes an intra-chromosomal compartment by localizing at a high concentr

59 Alterations in active A and inactive B chromosomal compartments are also associated with decrea

60 cell cycle defects often linked to aberrant chromosomal condensation and segregation.

61 Down syndrome is the most common chromosomal condition, and average life expectancy has i

62 We used high-throughput chromosomal conformation capture coupled with probabilis

63 ct ancient duplications based on patterns of chromosomal conserved synteny.

64 dy detection in TE biopsies toward the ICM's chromosomal constitution.

65 al Hi-C experiment are often summarized in a chromosomal contact map, a matrix whose elements reflect

66 me ordering using PCA on a thresholded inter-chromosomal contact matrix.

67 Here, we show that chromosomal contacts of a DSB site are the primary deter

68 ng all intra-chromosomal distances and inter-chromosomal contacts.

69 rtedly involved in numerous long-range intra-chromosomal contacts.

70 ge (e.g., 20 kb-2 Mb for human genome) intra-chromosomal contacts; however, with the latest reimpleme

71 ents in vivo in the mouse, at the endogenous chromosomal context, and proved their mechanistic role a

72 can function as a protestis factor in an XX chromosomal context.

73 munoprecipitation-deep sequencing across the chromosomal coordinates of sham- or transverse aortic co

74 Our understanding of common genomic and chromosomal copy number abnormalities in ccRCC, includin

75 ects relevant mutations, amplifications, and chromosomal copy number changes in retinoblastoma.

76 tion proteins required for the recovery from chromosomal damage.

77 liated with childhood B-ALL, the mitotic and chromosomal defects associated with HyperD B-ALL (HyperD

78 s are not exclusive to the Y chromosome, and chromosomal degeneration may have occurred throughout ou

79 The chromosomal deletion causes CSNK1A1 haplo-insufficiency.

80 By CRISPR/Cas9-mediated chromosomal deletion, we dissected the functions of thes

81 d cases (n = 80) revealed that patients with chromosomal deletions and protein truncating variants ha

82 MFS and UPS patient samples (n = 94) harbor chromosomal deletions and/or loss-of-function mutations

83 bus spindle-shaped virus (SSV9) conferred by chromosomal deletions of pilin genes, pilA1 and pilA2 th

84 sequencing, we identified 2 different large chromosomal deletions within the anthrose biosynthetic o

85 erepression and ERV reactivation in AML with chromosomal deletions, providing a mechanistic explanati

86 These inter-chromosomal differences in centromere features can trans

87 of a state of hyper-recombination and gross chromosomal disorder.

88 These chromosomal disparities contribute to the substantial di

89 gh-resolution Hi-C data, including all intra-chromosomal distances and inter-chromosomal contacts.

90 ide the cytoplasm, H2A reorganizes bacterial chromosomal DNA and inhibits global transcription.

91 nded to evolve towards normal ploidy through chromosomal DNA loss and gene expression changes.

92 rvation, while both the dramatic killing and chromosomal DNA loss in the ECA-deficient thyA mutants p

93 nts generated by natural transformation with chromosomal DNA mutagenized heavily by in vitro transpos

94 The chromosomal DNA of bacteria is folded into a compact bod

95 eq) to identify genome-wide L. monocytogenes chromosomal DNA regions that CodY binds in vitro.

96 ment strategy that uses targeted cleavage of chromosomal DNA with Cas9 to ligate adapters for nanopor

97 A as a competitor, either in a plasmid or in chromosomal DNA, containing the same binding site but wi

98 cellular components such as the membrane or chromosomal DNA.

99 omotes efficient and faithful replication of chromosomal DNA.

100 us obstacles that naturally occur throughout chromosomal DNA.

101 d the MutM/Y system, which counteracts OG in chromosomal DNA.

102 , weak, and transitory interactions with the chromosomal DNA.

103 similar to those identified in Campylobacter chromosomal DNA.

104 hose length is ~1,100 times shorter than the chromosomal DNA.

105 tly with the replication of both plasmid and chromosomal DNA.

106 imensional genome organization of a specific chromosomal domain and cellular function.

107 o act at multiple genes, and at the level of chromosomal domains and long-range interactions.

108 phase, entanglements between chromosomes and chromosomal domains are rare.

109 loci, and is highly enriched in specialized chromosomal domains surrounding centromeres, called peri

110 to be partitioned into several-kilobase-long chromosomal domains that are topologically independent f

111 nced clusters associate with heterochromatic chromosomal domains toward the periphery of the nucleus,

112 ell lines reveals close similarities between chromosomal dynamics across different cell lines on a gl

113 rate of which is related in a simple way to chromosomal dynamics.

114 w approach to functional dissection of these chromosomal elements.

115 s characterized by interstitial and terminal chromosomal events resulting from interhomolog mitotic c

116 local enhancers, and instead contains distal chromosomal fragments harboring CRC-driven enhancers.

117 ifferences between genotypes introgressed by chromosomal fragments of Robusta and non-introgressed ge

118 g mechanism enables the cell to discriminate chromosomal from noncentromeric DNA and to prohibit the

119 The neocentromere formation and chromosomal fusion events observed in this study in C. d

120 Following chromosomal fusion, the neocentromere was inactivated, a

121 Somatic chromosomal fusions involving ROS1 produce chimeric onco

122 fined as chromosomal breakages that generate chromosomal gains or losses of greater than or equal to1

123 metastasized) was characterized by recurrent chromosomal gains, CN-LOH, DAXX mutations, and ALT-posit

124 mal genes, even considering the paucity of X-chromosomal gene expression during meiosis, which is dif

125 replacement of both the mitochondrial and Y chromosomal gene pools in late Neanderthals.

126 nscriptome analysis found that a number of Y chromosomal genes had altered expression patterns in the

127 not exhibit obvious dosage compensation of X-chromosomal genes, even considering the paucity of X-chr

128 We report a de novo near-chromosomal genome assembly of Naja naja, the Indian cob

129 Chromosomal induction of eamA, but not of cydDC, from a

130 to defects in kinetochore biorientation and chromosomal instability (CIN) and these phenotypes are s

131 Chromosomal instability (CIN) comprises continual gain a

132 Chromosomal instability (CIN) increases a tumor cell's a

133 Besides acquired T790M mutation, chromosomal instability (CIN) related genes, including A

134 -cycle checkpoints, allowing accumulation of chromosomal instability (CIN), which resulted in aneuplo

135 euploidy, chromothripsis, and other forms of chromosomal instability (CIN), yet how this occurs remai

136 In contrast, we discovered that chromosomal instability activates cGAS/STING signaling b

137 When making synthetic hybrids, chromosomal instability and cell size increase dramatica

138 Though not mutually exclusive, chromosomal instability and pathogenic variants affectin

139 s (ICL), a highly toxic lesion that leads to chromosomal instability and perturbs normal transcriptio

140 , with seemingly opposing roles in promoting chromosomal instability and protecting genome integrity.

141 In addition to chromosomal instability and replication stress, Gcna mut

142 Chromosomal instability in cancer consists of dynamic ch

143 e to replication stress and are hotspots for chromosomal instability in cancer.

144 Chromosomal instability may enable the continuous select

145 ross 22 tumour types to show that continuous chromosomal instability results in pervasive SCNA hetero

146 ubule attachments during mitosis can lead to chromosomal instability, a hallmark of human cancers.

147 in and heterochromatin, and cause widespread chromosomal instability.

148 cell cycle checkpoint, resulting in profound chromosomal instability.

149 tor cells and a high penetrance formation of chromosomal instable, pauci-clonal B-cell lymphoma in ag

150 between the rs73185306 C/T SNP and HHV-6A/B chromosomal integration (odds ratio, 0.90 [95% confidenc

151 The mechanisms leading to iciHHV-6A/B chromosomal integration are yet to be identified.

152 Frequent horizontal gene transfer and chromosomal integration events illustrate the pronounced

153 ength single HIV-1 genomes and corresponding chromosomal integration sites, we show that the proviral

154 Bacterial chromosomes fold into TAD-like chromosomal interaction domains (CIDs) but do not displa

155 Our data indicate that inter-chromosomal interaction patterns between homologous chro

156 e chromatin domains, compartments, and trans-chromosomal interactions and their relationship to trans

157 omal self-associating interactions and extra-chromosomal interactions are necessary to establish the

158 The inter-chromosomal interactions at centromere ends are signific

159 Using Micro-C XL to detect chromosomal interactions, we observed the pervasive pres

160 ften yield features that can be mistaken for chromosomal interactions.

161 Chromosomal intermingling is an important driver for rad

162 ries resulting in significant differences in chromosomal intermingling.

163 en the ratio of the sSNPs to total SNPs in a chromosomal interval was used to detect the genomic regi

164 We further identify chromosomal inversion as a molecular mechanism that may

165 s notably different among ruminants due to a chromosomal inversion that splits MHC type II genes into

166 loci, which supports previous findings of a chromosomal inversion within the MHC type II gene region

167 Phage-inducible chromosomal island-like elements (PLEs) are bacteriophag

168 mer lengths suggest they are phage-inducible chromosomal islands, which are packaged as concatemers i

169 mes are extensively rearranged with aberrant chromosomal karyotypes.

170 Here, we sequenced and assembled 2 chromosomal-level genomes of the millipedes Helicorthomo

171 ns of megabases (Mb) apart, as well as inter-chromosomal links.

172 While chromosomal localization of ENCs does not reflect the ph

173 cate that loss of LSH affects the levels and chromosomal localization of H3T3ph and provide evidence

174 the Capsicum ANK gene family including gene chromosomal localization, Cis-elements, conserved motif

175 s of morphological features and sub-cellular chromosomal localizations in the related non-pathogen, M

176 Chromosomal localizations revealed that S. spontaneum MA

177 a two-dimensional Manhattan plot, displaying chromosomal location of SNPs along the x-axis and the ne

178 nsformation is highly efficient and that the chromosomal location of the integration site or whether

179 l cells, which were mainly not explicable by chromosomal location, biological pathway or tissue speci

180 e DSB by Mos1 transposon excision at defined chromosomal locations in the C. elegans germline and sho

181 However, the precise chromosomal locations of these repeats, breaks regions,

182 ctly modify the target genes in their native chromosomal locations, classical transgenesis is still t

183 of replication origins at specific times and chromosomal locations.

184 The linear order of chromosomal loci is maintained in the axial cores, whose

185 -outs, knock-ins, and single-base editing at chromosomal loci.

186 letions and microduplications of the 16p11.2 chromosomal locus are associated with syndromic neurodev

187 tools to resolve the local ancestry of each chromosomal locus based on reference panels of tilapia s

188 sufficient to recruit Aurora B to a distinct chromosomal locus.

189 ssibility with ATACseq studies (caQTLs), and chromosomal looping with Hi-C methods (clQTLs).

190 t modulates both chromatin accessibility and chromosomal looping.

191 ndingly, Cas9 off-target cleavage results in chromosomal losses and hemizygous indels because of clea

192 PBRM1 mutations and enriched for unfavorable chromosomal losses of 9p21.3, as compared with non-infil

193 owever, many details of the mechanics of M/R chromosomal manipulation during DNA-repair events remain

194 r, further 1p/19q testing was performed with chromosomal microarray analysis (CMA).

195 ve T-cell lymphopenia underwent testing with chromosomal microarray analysis.

196 Use of chromosomal microarray and massively parallel sequencing

197 The 22q11.2 deletion (22q11DS) is a common chromosomal microdeletion and a potent risk factor for p

198 rogression of human diseases, which includes chromosomal, monogenic, multifactorial and mitochondrial

199 Guided by this structure, we generated a chromosomal mutation that abolishes Gsk regulation by pp

200 co-expressed genes often reside in the same chromosomal neighbourhood, with gene pairs representing

201 Chromosomal NUP98-PHF23 translocation is associated with

202 to two for P. patens) and evidence suggests chromosomal or segmental losses in the evolutionary hist

203 the effect of segregation and compaction on chromosomal organization with the effect of the interact

204 tM1, and this system is dedicated to in situ chromosomal oxidation rather than correcting OG incorpor

205 a protein structure that mediates homologous chromosomal pairing and class I crossovers.

206 The Aurora B chromosomal passenger complex (CPC) is a conserved regul

207 The chromosomal passenger complex (CPC) localizes to and is

208 The chromosomal passenger complex (CPC), which includes the

209 -3 (H3T3ph), creating a docking site for the Chromosomal Passenger Complex (CPC).

210 tonically increasing function of the average chromosomal ploidy.

211 mong families and are influenced by the TEs' chromosomal position and proximity to genes.

212 tial gene, function when located at a common chromosomal position in Drosophila We then show that whe

213 l location of an origin is determined by the chromosomal position of an MCM complex, the inactive for

214 Centromeres define the chromosomal position where kinetochores form to link the

215 Moreover, what chromosomal process is recognized as "homolog engagement

216 otentially underlie the entire morphogenetic chromosomal program.

217 ed number of rationally integrated bacterial chromosomal protein expression sites and variants.

218 DNA translocase activity and ability to bind chromosomal proteins modified by the small ubiquitin-lik

219 esulted in the retention of SUMO2/3-modified chromosomal proteins, including TopoIIalpha, indicating

220 The 264.9-Mb assembly contains nine chromosomal pseudomolecules with 25 538 protein-coding g

221 fies unevenness in the distribution of inter-chromosomal reads in the scHi-C contact matrix to measur

222 NMC is molecularly characterized by chromosomal rearrangement of the NUT gene to another gen

223 revisiae genetic system that generates gross chromosomal rearrangements (GCRs) mediated by foldback i

224 Chromosomal rearrangements and gene copy number variatio

225 g most allelic and non-allelic mutations and chromosomal rearrangements characteristic of nuclease-de

226 o mutation and significantly associated with chromosomal rearrangements in malignancy.

227 omosome 7A provides insight into the role of chromosomal rearrangements in the evolution of this comp

228 edicted to form non-B-form DNA induced gross chromosomal rearrangements in yeast and displayed high i

229 d cancer lines, we characterize a variety of chromosomal rearrangements involving acrocentric p-arms

230 Concurrently, p53 loss instigated chromosomal rearrangements linked to LINE sequences and

231 athogenic domain disruptions can result from chromosomal rearrangements or perturbation of architectu

232 nds from single nucleotide variants to large chromosomal rearrangements, but the extent of structural

233 Clastogen exposure can result in chromosomal rearrangements, including large deletions an

234 therapy choice using acquired mutations and chromosomal rearrangements.

235 solved efficiently to prevent sequence loss, chromosomal rearrangements/translocations, or cell death

236 realin interaction results in defects in CPC chromosomal recruitment and Aurora B-dependent spindle a

237 roidal glycoalkaloid mQTL was localized to a chromosomal region spanning 14 genes, including a previo

238 1 in each 4000 new-borns), in which the same chromosomal region that is duplicated in Dup22q11.2 is d

239 nds 15- to 18-nt DNA guides derived from the chromosomal region where replication terminates and asso

240 Our results reveal the architecture of the chromosomal region within which kinetochores are embedde

241 is process works and how it impacts flanking chromosomal regions are poorly understood.

242 otably, differential methylation analysis of chromosomal regions identified three locations containin

243 lation changes in 187 gene loci at different chromosomal regions including promoters, coding exons, i

244 signation, which constrains PLK-2 to special chromosomal regions known as pairing centers to ensure p

245 s, indicating that spatial regulation across chromosomal regions reduces risky crossover events.

246 Although originally thought to be silent chromosomal regions, centromeres are instead actively tr

247 ecialist ancestry were concentrated in a few chromosomal regions.

248 pruning, including 2 genes within implicated chromosomal regions: C1qa and Mfge8.

249 amic competition between DNA replication and chromosomal relaxation, providing a foundation for deter

250 Significant chromosomal replication and fragmentation during the res

251 Alternatively, the initial chromosomal replication in thymine (T)-starved cells cou

252 neficial resistance genes, and we found some chromosomal resistance mutations were only beneficial in

253 H + T induce inter-chromosomal RNA-chromatin interactions, particularly amo

254 assembler capable of producing accurate and chromosomal-scale diploid genomes of all individuals in

255 a from each individual in a trio to generate chromosomal-scale phased assemblies.

256 duction is achieved by confining to a single chromosomal section.

257 mutations across the genome tended to cause chromosomal segments with alleles that promote the expan

258 ic crises, and lead to simultaneous gains of chromosomal segments.

259 for Cds1 in driving DNA damage and disrupted chromosomal segregation under certain conditions of repl

260 ion that alters mitotic spindle orientation, chromosomal segregation, and nuclear migration.

261 Polymer simulation shows that both intra-chromosomal self-associating interactions and extra-chro

262 d metric, we identify multiple mis-assembled chromosomal sequences in previously published complete b

263 egates gonadal sex (ovaries and testes) from chromosomal sex (XX and XY), we showed that XX chromosom

264 lator tra-1, whose activity is controlled by chromosomal sex and is necessary and sufficient to speci

265 edulla is a cell-autonomous process based on chromosomal sex identity (CASI).

266 Moreover, when inserted at two chromosomal sites separated by 30 kb, these two modules

267 ond providing long-term memory for access to chromosomal sites upon entry into a new host.

268 r DNA enzymes with activities coordinated at chromosomal sites.

269 Their prominent roles in chromosomal stability are demonstrated by the linkage of

270 accumulation of R-loops at CEN chromatin for chromosomal stability.

271 ms (SNPs) and short tandem repeats (STRs), Y-chromosomal STRs and the control region of the mitochond

272 No inter-chromosomal structural rearrangements were observed on a

273 egion-specific properties contribute to both chromosomal structure and gene regulation.

274 density microarray studies of submicroscopic chromosomal structure as well as high-throughput DNA seq

275 e data are explained by a model in which the chromosomal structure is driven by dynamic competition b

276 nted in cancer, but the fate of higher-order chromosomal structure remains obscure.

277 aled a complex genomic landscape of internal chromosomal structures in vertebrate cells(3-7), but the

278 mechanisms of rearrangement generate varied chromosomal structures with low-level copy-number gains

279 one activity is responsible for higher order chromosomal structures, including recently observed Z-lo

280 t the six species have maintained a complete chromosomal synteny after more than 9 million years of d

281 Thus, the chromosomal synteny in Populus has been remarkably maint

282 pendent formation of non-B DNA structures at chromosomal termini participates in telomere maintenance

283 rare putative loss-of-function variants of X-chromosomal TLR7 were identified that were associated wi

284 dentified loss-of-function variants of the X-chromosomal TLR7.

285 cell populations and expands gene editing to chromosomal tracts previously not possible to modify sea

286 te lymphoblastic leukemia (ALL), the t(1,19) chromosomal translocation specifically targets the E2A g

287 acute myeloid leukemias (AMLs), a recurring chromosomal translocation, termed t(8;21), generates the

288 ange in gene sequences and thus suggest that chromosomal translocations alone may play an underapprec

289 in GSI-resistant human tumor cell lines with chromosomal translocations and rearrangements in Notch g

290 is a plasma cell blood cancer with frequent chromosomal translocations leading to gene fusions.

291 is a member of the nuclear pore complex, the chromosomal translocations leading to NUP98 gene fusions

292 Although chromosomal translocations were detected, the frequency

293 om DNA-PKcs (5A/5A) B cells reveal increased chromosomal translocations, extensive use of distal swit

294 and can lead to rDNA transcriptional arrest, chromosomal translocations, genomic losses, and cell dea

295 ous end-joining (Alt-NHEJ) events, including chromosomal translocations.

296 onsequences including off-target editing and chromosomal translocations.

297 ence correlated with the presence of a novel chromosomal type IV secretion system.

298 n the human brain, specific contributions of chromosomal versus hormonal sex, how ELS alters the time

299 These studies provide the first chromosomal view and define novel features and functions

300 ine and somatic genomes, enabling a complete chromosomal view of DNA elimination.