ライフサイエンスコーパス: karyotype

1 sk cytogenetics (17p deletion and/or complex karyotype).

2 human and mouse with virtual karyotyping (e-karyotyping).

3 The remaining three metaphases were normal karyotype.

4 ymptoms, large splenomegaly, and unfavorable karyotype.

5 o the molecular landscape of AML with normal karyotype.

6 of human ES cell lines with a normal haploid karyotype.

7 n phenotypic female patients with the 46, XY karyotype.

8 be, have descended from the proto-Calepineae Karyotype.

9 n situ hybridization, and 54% with a complex karyotype.

10 ng results showed discordance with the fetal karyotype.

11 d 3 years, overall and stratified by age and karyotype.

12 can generate mutagenesis and changes to the karyotype.

13 phase cells was consistent with the host sex karyotype.

14 total of 48/66 (72.7%) cases had an abnormal karyotype.

15 inate the fusions and maintain a telocentric karyotype.

16 imary amenorrhea, short stature, and a 46,XX karyotype.

17 , proliferation (MKI67 and PCNA), and normal karyotype.

18 h multipotent cell fate potential and normal karyotype.

19 d XF substrate preference, pluripotency, and karyotype.

20 odiploidy, high hyperdiploidy, and a complex karyotype.

21 ulus, have maintained a remarkably conserved karyotype.

22 myelodysplastic syndrome (MDS) with del(5q) karyotype.

23 otype, which predates the ancestral crucifer karyotype.

24 reg-mediated suppression, regardless of Treg karyotype.

25 dormant preexisting clones with an aberrant karyotype.

26 llection of cells, referred to as the cells' karyotype.

27 omosomal gain and loss that are implied by a karyotype.

28 y subgroups, including complex and monosomal karyotypes.

29 growth of advanced malignancies with complex karyotypes.

30 nsively rearranged with aberrant chromosomal karyotypes.

31 ied translocations, and 19.5% showed complex karyotypes.

32 trials for patients with high-risk C-IPSS-R karyotypes.

33 data into multiple haplotype-specific cancer karyotypes.

34 retain full pluripotency and exhibit normal karyotypes.

35 ted in fusion events in species with smaller karyotypes.

36 chromosome-segregation defects and nonmodal karyotypes.

37 rearranged with highly aberrant chromosomal karyotypes.

38 haracteristic of normal human male or female karyotypes.

39 ges through senescence, gene expression, and karyotyping.

40 are intractable, or cryptic, to both CMA and karyotyping.

41 marker chromosome-negative complex aberrant karyotypes (1/34).

42 For stratified analysis according to karyotype, 108 additional primary MDS patients registere

43 .3] vs 63.7 x 10(9)/L [48.0]), and poor-risk karyotype (16 [22%] of 74 patients in both groups).

44 Of 37 T. mirus individuals that were karyotyped, 23 (62%) were chromosomally additive of the

45 53 mutation (27%), del11q (33%), and complex karyotype (29%).

46 The ancestral karyotype (2n = 16) has two terminal 35S sites and two i

47 Pigeon has a typical avian karyotype (2n = 80), while falcon (2n = 50) is highly re

48 .4%; 95% CI, 37%-44%): 26 of 59 (44.1%) with karyotyping, 32 of 188 (17.0%) with microarrays, 31 of 1

49 PA5 cells had a normal human karyotype (46, XY) and exhibited faster growth kinetics

50 th no evidence of lymphoma and a normal male karyotype (46, XY).

51 Most patients had a normal karyotype (85%), and the most frequent somatic alteratio

52 An unbalanced karyotype, a condition known as aneuploidy, has a profou

53 in CLL patients that shows a role of complex karyotype aberrations as an independent prognostic facto

54 Karyotype abnormalities are significantly associated wit

55 o single cells for long periods, without any karyotype abnormalities.

56 ficantly elevated in primary FLT3-ITD normal karyotype acute myeloid leukemia (NK-AML) compared with

57 We characterize mutations, karyotype alterations and gene expression changes, and d

58 s to distinguish AML cells (including normal-karyotype AML cells) from normal cells, identify express

59 In patient-derived monosomal karyotype AML murine xenografts, decitabine treatment re

60 remendous hidden diversity in sex chromosome karyotypes among flies.

61 who had not been evaluated with bone-marrow karyotype analyses before therapy.

62 Single-cell karyotype analysis indicates that these CNVs appear to a

63 Karyotype analysis revealed that this phenotype was sign

64 me instability might drive tumour evolution, karyotype analysis using single-cell sequencing technolo

65 seful tool for chromosome identification and karyotype analysis.

66 Comparative karyotyping analysis revealed that chromosome organizati

67 In eSNP karyotyping analysis, none of the predicted copy number

68 mined by metaphase spread assay and spectral karyotyping analysis.

69 lastoma tumor cells have a relatively stable karyotype and currently the circumstances in which pRB i

70 strawberry (Fragaria vesca) with a conserved karyotype and few notable structural rearrangements.

71 y strains of S. cerevisiae, we evaluated the karyotype and gene expression studies performed by Hose

72 In the present study, we investigated karyotype and genome size of tick cell lines.

73 t human neural stem cells (hNSC) with normal karyotype and high proliferation potential under XF cond

74 malignant mutations in patients with complex karyotype and identified 5q deletion as an early cytogen

75 n results that are discordant with the fetal karyotype and improve maternal clinical care.

76 ds in stratifying AML patients with aberrant karyotype and in identifying common aberrant transcripti

77 In patients with normal karyotype and no FLT3 internal tandem duplication (n = 1

78 We analyzed associations between karyotype and outcome in intensively treated patients wi

79 fusion, a process that restores the parental karyotype and protects cells from rare accidental telome

80 can be used to generate a RNA-based digital karyotype and to identify candidate competence-associate

81 venetoclax refractory, and 23 had a complex karyotype and/or 17p deletion.

82 isease or can be explained by differences in karyotype and/or age.

83 cktail was developed with which to study the karyotypes and chromosome evolution of peanut and its wi

84 Patients with the copresence of complex karyotypes and deletions/mutations involving TP53 demons

85 Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic

86 d that chromosomal translocations or complex karyotypes and distinct somatic mutations may impact out

87 LIF-3i-reverted hPSCs retained normal karyotypes and genomic imprints, and attained defining m

88 after spontaneous transformation to abnormal karyotypes and in correlation to cancer cells.

89 ognosis compared with other non-CBF aberrant karyotypes and led to lower remission rates (complete re

90 In multivariate models, complex karyotypes and POT1 mutations (8.1% of patients) represe

91 ns (P < .001) and lower in AMLs with complex karyotypes and t(8;21) translocations (P < .001).

92 Cancer cells display aneuploid karyotypes and typically mis-segregate chromosomes at hi

93 -pair, and linked-read sequencing as well as karyotyping and array CGH analysis to identify a wide sp

94 High-resolution molecular karyotyping and comparative genomics with Setaria italic

95 Utilizing spectral karyotyping and locus-specific fluorescence in situ hybr

96 Karyotyping and multiplex ligation-dependent probe ampli

97 We performed metaphase karyotyping and next-generation sequencing (NGS) of 85 g

98 Spectral karyotyping and short tandem repeat analysis of the UISO

99 o were >= 65 years (>= 60 years if monosomal karyotype) and fit for intensive chemotherapy were alloc

100 malities (45%) than controls (despite normal karyotypes), and most (80%) had teenage onset, with no d

101 the reconstruction of the varanid ancestral karyotype, and (iii) test homology of sex chromosomes am

102 ed genes, retain high viability and a normal karyotype, and can be genetically modified or differenti

103 er outcomes included age >60 years, abnormal karyotype, and terminal deoxynucleotidyltransferase (TdT

104 ates that IPSS-R risk category and monosomal karyotype are important factors predicting transplantati

105 chromosomal gains and losses implied by the karyotype are returned in standard genomic coordinates,

106 Common inverted and standard karyotypes are genetically divergent and account for mos

107 Karyotypes are represented in a unique text-based format

108 Single-locus karyotypes are very common, even in polyploids.

109 ized by unbalanced chromosome stoichiometry (karyotype), are associated with cancer malignancy and dr

110 netic characteristics of sSMC delineated the karyotype as 47,XY,+der(15)(pter->p11.2::q11.1->q11.2::p

111 ells, which led to the development of poplar karyotypes based on individually identified chromosomes.

112 uction, whole-genome sequencing and spectral karyotyping-based single-cell phylogenetic tree building

113 ing method (biome representational in silico karyotyping [BRiSK]) were applied in parallel to samples

114 offers similar information as a traditional karyotype but with the benefit of DNA sequence resolutio

115 ly on morphologic analysis and assessment of karyotype by chromosome banding analysis.

116 We analyzed 57 AML patients with normal karyotype by using Illumina's 450k array and showed that

117 chromosomal microarray analysis or standard karyotype can be offered for prenatal diagnosis with a p

118 in some populations, leading to fixation and karyotype change, while other populations preferentially

119 s multiple PSC lines and can proceed without karyotype change.

120 We discovered a correlation between karyotype changes and phylogeny branch lengths.

121 6) had received former diagnostic results by karyotyping characteristic of normal human male or femal

122 Recent evidence suggests that complex karyotype (CK) defined by the presence of >=3 chromosoma

123 tients into those defined as having a normal karyotype (CN-AML).

124 orescence in situ hybridization (FISH)-based karyotyping cocktail was developed with which to study t

125 potent and benign and have relatively normal karyotype compared with ESCs knocked out for p53.

126 s, 13q deletions, 17p deletions, or a normal karyotype compared with normal CD19(+) cord blood and pe

127 aracterized by a particularly high degree of karyotype complexity, TP53 mutations, and dismal prognos

128 ch revealed that the ancestral Cucurbitaceae karyotypes consisted of 12 protochromosomes with 18 534

129 ally have XY sex chromosomes and a conserved karyotype consisting of six chromosomal arms (five large

130 There are examples of massive karyotype conversion, from mostly telocentric (centromer

131 Karyotype data are the most common form of genetic data

132 tation has prevented the full use of complex karyotype data in discovery science use cases.

133 To enhance the utility and value of karyotype data, we developed a tool named CytoGPS.

134 Some individuals with a 46,XX karyotype develop testes or ovotestes (testicular or ovo

135 spp. cell lines at different passages, their karyotypes differed from 2n = 28 chromosomes for parenta

136 Adverse-risk karyotypes displayed a higher frequency of marker chromo

137 We propose that AT-rich centromeres drive karyotype diversity in the Malassezia species complex th

138 tions and inversions are responsible for the karyotype diversity of these species, with only three wh

139 Combined data from karyotype, DNA index, fluorescence in situ hybridization

140 sh between these explanations and to examine karyotype dynamics in chromosome instable lymphoma, we u

141 ll samples from human and mouse with virtual karyotyping (e-karyotyping).

142 c gene expression to read the sex chromosome karyotype, early embryos must remain gender-naive; our f

143 For decades, pretreatment karyotype evaluation has served to identify subgroups fo

144 e rearrangements might have had an impact on karyotype evolution and homoploid speciation in Ae. mark

145 e strength dictates meiotic success, driving karyotype evolution and reproductive isolation in mice.

146 pidly evolving genomic regions and can shape karyotype evolution and speciation across taxa.

147 Here we analyzed karyotype evolution in Agrodiaetus using phylogenetic co

148 ure studies on the chromosome homoeology and karyotype evolution of duckweed species.

149 nce and prerequisite to study the genome and karyotype evolution of other duckweed species.

150 arger chromosomal blocks occurred during the karyotype evolution of this group, (ii) contribute to th

151 ion, some organisms demonstrate high rate of karyotype evolution.

152 ts, predicts a high degree of punctualism in karyotype evolution.

153 olved in meiosis may be associated with fast karyotype evolution.

154 recombination landscapes and between-species karyotype evolution.

155 ell biological basis of centromere drive and karyotype evolution.

156 omatin and the involvement of centromeres in karyotype evolution.

157 wledge of Equus chromosome rearrangement and karyotype evolution.

158 mutants have the potential to promote tumor karyotype evolution.

159 sophila obscura group species to reconstruct karyotype evolution.

160 We further show that cells with complex karyotypes exhibit features of senescence and produce pr

161 d leukemia (AML), 10% to 30% with the normal karyotype express mutations in regulators of DNA methyla

162 the DNA crosslinking agent mitomycin C, and karyotypes feature genomic instability.

163 Established associations with complex karyotype, few co-occurring mutations, high-risk present

164 cular genetic analyses, such as conventional karyotyping, fluorescence in situ hybridization, reverse

165 omes derive from the ancestral Cucurbitaceae karyotypes followed by 19 chromosomal fissions and 20 fu

166 is as a first-tier test in place of standard karyotype for the evaluation of fetal chromosomes when o

167 romosomal abnormalities (BCAs) still require karyotyping for clinical detection.

168 his method for RNA-Seq data and present eSNP-Karyotyping for the detection of chromosomal aberrations

169 he mass of chromosomes and perform a partial karyotype from the results.

170 Deriving these karyotypes from high-throughput DNA sequencing of bulk t

171 e karyotype or a file consisting of multiple karyotypes from several individuals.

172 We analysed 2949 karyotypes, from 1791 species and 86 plant families, and

173 We propose that cells with abnormal karyotypes generate a signal for their own elimination t

174 these types of large-scale variations into a karyotype graph representation of the rearranged cancer

175 For a cancer karyotype graph we formulate an Eulerian Decomposition P

176 g unambiguous cancer contigs from the cancer karyotype graph, and describe a novel algorithm CCR capa

177 e integrated SV and CNV data into a unifying karyotype-graph structure to present a more accurate rep

178 te that Eulerian decomposition of the cancer karyotype graphs is not always unique and present the Co

179 R can recover rearranged cancer contigs from karyotype graphs thereby addressing existing limitation

180 ecovering rearranged cancer chromosomes from karyotype graphs.

181 normalities, including complex and monosomal karyotypes, had no prognostic value in these intensive p

182 we conclude that the ancestral lepidopteran karyotype has been n=31 for at least 140 My.

183 The human karyotype has been used as a mechanism for describing an

184 .21]; P < .001) and del(17p) by conventional karyotyping (hazard ratio, 7.96 [1.02-61.92]; P = .048)

185 cell leukaemias reveals different levels of karyotype heterogeneity in these cancers.

186 Monosomal karyotype (HR, 2.01; 95% CI, 1.65 to 2.45) and age 50 ye

187 Aneuploidy, a state of karyotype imbalance, is a hallmark of cancer.

188 er, most human solid tumors have an abnormal karyotype implying that gain and loss of chromosomes by

189 ehensive spectrum of the heterogeneous tumor karyotype in human tumors.

190 Aneuploidy-or an unbalanced karyotype in which whole chromosomes are gained or lost-

191 study, we found that 3% of random aneuploid karyotypes in yeast disrupt the stable inheritance of si

192 demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations

193 had a normal and 426 (17.6%) had an abnormal karyotype, including 329 patients (13.6%) with intermedi

194 Importantly, FDF could classify normal karyotype intermediate risk patients into two groups wit

195 It then converts the ISCN karyotype into a binary Loss-Gain-Fusion (LGF) model, wh

196 CytoGPS first parses ISCN karyotypes into a machine-readable format.

197 d mRNA transcription are lineage, tissue and karyotype-invariant, and that models trained on matched

198 from most other catarrhine primates, in whom karyotype is highly conserved.

199 Metaphase karyotyping is an established diagnostic standard in acu

200 Aneuploidy, an imbalanced karyotype, is a widely observed feature of cancer cells

201 identifying chromosomes, a process known as karyotyping, is widely used to detect changes in chromos

202 In addition, as revealed by spectral karyotyping, LMP1 induced "outre" giant cells and hypopl

203 and a small dot), but superficially similar karyotypes may conceal the true extent of sex chromosome

204 e shown that pluripotent cells with abnormal karyotypes may grow faster, differentiate less and becom

205 diagnostic yield of genomic tools (molecular karyotyping, multi-gene panel and exome sequencing) in a

206 hromosomes of the ancestral proto-Calepineae Karyotype (n = 7) through an unusually high number of pe

207 ructurally resembling the Ancestral Crucifer Karyotype (n = 8), which, however, contained two unique

208 Evolution to an abnormal karyotype occurred in 16 (19%), most within 6 months of

209 We evaluated the molecular karyotype of 25 clinical-grade hESC lines by whole-genom

210 Thus, the karyotype of an organism and its risk of meiotic missegr

211 The inferred ancestral karyotype of clade E (CEK; n = 7) originated from an old

212 ome, which presumably reflects the ancestral karyotype of higher Diptera.

213 y research, which has the putative ancestral karyotype of n=31.

214 Results showed that karyotype of the nascent allopolyploid plants (AT2) is s

215 We show how the karyotypes of amphioxus and diverse vertebrates are deri

216 Using reconstructed ancestral karyotypes of Cetartiodactyls, Ruminants, Pecorans, and

217 lades and the rearrangements that led to the karyotypes of extant species and their ancestors.

218 pes (RCK), to reconstruct haplotype-specific karyotypes of one or more rearranged cancer genomes from

219 Standard karyotypes of rice were established using this system on

220 These results support the hypothesis that karyotypes of woody species are more stable than herbace

221 We propose that the karyotypes of woody species are more stable than those o

222 n 3 of 4 sex-mismatched specimens, tissue XY-karyotyping of the RPM interphase cells was consistent w

223 ith adverse genetics, for example, monosomal karyotypes, often with losses on chromosome 7, 5, or 17.

224 size; therefore, it is possible to perform a karyotype on chromosomes using their mass as an identify

225 ytoConverter, takes as input either a single karyotype or a file consisting of multiple karyotypes fr

226 3%) trios had a clinically relevant abnormal karyotype or chromosomal microarray finding, 51 (10%) co

227 eatment failure, independent of conventional karyotype or mutation status.

228 e of del(11)(q22.3), del(17)(p13.1), complex karyotype, or immunoglobulin variable region heavy chain

229 To gain insight into the karyotype organization of genus Ctenomys, we examined th

230 plex aberrant, and 41.2% in abnormality(17p) karyotypes, P < .0001 each).

231 %) of aberrant non-core-binding-factor (CBF) karyotype patients.

232 fied by presence of poor-prognosis (complex) karyotype (presence of at least three abnormalities, or

233 s >/= 60 years old and patients with adverse karyotype, previous MDS or tAML did not impact overall o

234 ical-grade hESC lines with defined molecular karyotypes provides a substantial starting platform from

235 Malassezia species show variable karyotypes ranging between six and nine chromosomes.

236 rigorous computational representation of the karyotype; rather an informal, string-based representati

237 oduce a new algorithm, Reconstructing Cancer Karyotypes (RCK), to reconstruct haplotype-specific kary

238 ologous centromere DNA sequences facilitated karyotype rearrangements and centromere type transitions

239 frequent mitotic errors and possess complex karyotypes, recapitulating a common feature of human can

240 Taken together, by combining ancestral karyotype reconstructions with analysis of cis regulator

241 t covariates such as cytogenetics, monosomal karyotype, relapsed or refractory rather than newly diag

242 th whole-genome doubling, indicating ongoing karyotype remodelling.

243 n (WGD) is usually followed by gene loss and karyotype repatterning.

244 The karyotype represents the basic genetic make-up of a euka

245 te Miocene that was followed by considerable karyotype reshuffling and chromosome number reduction an

246 r normal, aberrant intermediate, and adverse karyotype, respectively; P < .001), inferior 5-year over

247 kers, formed teratomas in vivo, had a normal karyotype, retained and expressed mutant or normal CSF2R

248 h chromosome 7 deletions and other monosomal karyotypes.See related commentary by O'Hagan et al., p.

249 Whilst 86.57% of karyotypes show S-type organisation (ancestral condition

250 Karyotypes showed the typical railroad appearance of a c

251 Spectral karyotyping (SKY) and fluorescent-in-situ hybridization

252 We used G-banding, spectral karyotyping (SKY), and locus- and region-specific fluore

253 ptome changes of aneuploidy by averaging out karyotype-specific dosage effects in aneuploid yeast-cel

254 Tolerance mechanisms can be karyotype-specific or general.

255 show that deletion of UBP3 exacerbates both karyotype-specific phenotypes and global stresses of ane

256 Such long-term karyotype stability after polyploidization has not been

257 oncogenic Aurora-A during mitosis to ensure karyotype stability remained an open question.

258 alysis including clinical variables, complex karyotype status, and candidate genes, mutations in TP53

259 romosome is identified in the female arowana karyotype, suggesting that the sex is determined by a ZW

260 rDNA was found in about 25% of single-locus karyotypes, suggesting that terminal locations are not e

261 wo putative progenitors using our FISH-based karyotyping system.

262 of fetal anomalies in which assessment with karyotype testing and chromosomal microarray fail to det

263 tive results of standard investigations with karyotype testing and chromosomal microarray in an unsel

264 at (2n = 2x = 14), has a highly asymmetrical karyotype that is indicative of chromosome rearrangement

265 chromosomes that resemble the ancestral fly karyotype that originated approximately 100 million yr a

266 We find that RCK infers cancer karyotypes that better explain the DNA sequencing data a

267 In a karyotype the chromosomes are identified by their size a

268 In multivariable analysis, an abnormal karyotype, the presence of FLT3-internal tandem duplicat

269 s defined by the presence of an adverse-risk karyotype, the presence of secondary acute myeloid leuka

270 irectly on all cases with negative molecular karyotyping, the diagnostic yield of exome sequencing wa

271 a fully computational representation of the karyotype; the development of this ontology represents a

272 Given the potential of cells with abnormal karyotypes to become cancerous, do pathways that limit t

273 y for the transition from traditional fungal karyotyping to more comprehensive chromosome biology stu

274 g, exome sequencing and transcriptomics, and karyotyped using single-cell whole-genome sequencing.

275 XY-karyotyping using fluorescence in situ hybridization was

276 ce variants, large copy-number variants, and karyotype variants in probands were considered to be pat

277 is of the two Ficus genomes revealed dynamic karyotype variation associated with adaptive evolution.

278 ethnically diverse (ED) origins with normal karyotype, verified teratoma formation, pluripotency bio

279 The karyotype was complex (>=3 abnormalities) in 73% of the

280 The hyperdiploid leukaemia karyotype was highly over-represented in ALL cases harbo

281 rescence in situ hybridization, and spectral karyotyping, we identified structural aberrations and co

282 g/d), fludarabine refractoriness and complex karyotype were associated with progression (hazard ratio

283 ostic Scoring System (IPSS-R), and monosomal karyotype were independently associated with relapse and

284 Karyotypes were constructed in cultivated peanut and its

285 some 7q were confined to group A and complex karyotypes were more frequent in group B.

286 erved in 25 cells, while two different minor karyotypes were observed in the other cells.

287 Karyotypes were prepared, showing the reproducibility of

288 Chromosomal aberrations as assessed by karyotyping were observed in 68.8% of 154 patients, 31.2

289 s thaliana (L.) genome and suggested a novel karyotype, which predates the ancestral crucifer karyoty

290 our work identified biomarkers of aneuploid karyotypes, which suggest insights into the underlying m

291 nstructions of clone- and haplotype-specific karyotypes will aid further studies of the role of intra

292 in the maternal circulation to predict fetal karyotype with greater sensitivity and specificity than

293 his NR5A1 mutation was found to have a 46,XY karyotype with partial testicular dysgenesis.

294 than sequenced grass genomes and a conserved karyotype with seven chromosomes from before the rho dup

295 A dominant karyotype with three aneuploid chromosomes was observed

296 Osteosarcoma has a complex karyotype, with loss of p53 in the vast majority of case

297 pecies, N. caerulescens has the most derived karyotype, with species-specific inversions on chromosom

298 x gourd genome represents the most ancestral karyotype, with the predicted ancestral genome having 15

299 Here, in a cohort of 354 humans with varying karyotypes (XX, XY, XXX, XXY, XYY, XXYY, XXXXY), we inve

300 nerating flies with different sex chromosome karyotypes (XXY females and X0 and XYY males), we show t