ライフサイエンスコーパス: monosomy

1 cterised by complete or partial X-chromosome monosomy.

2 quantitative trait locus (QTL) revealed by X-monosomy.

3 eted in a second PCG patient with partial 6p monosomy.

4 pelled into a polar body resulting in lethal monosomy.

5 risk of metastasis conferred by chromosome 3 monosomy.

6 thod for producing mice with tissue-specific monosomies.

7 seases caused by or associated with specific monosomies.

8 rowth rate, that is, lethality, for multiple monosomies.

9 h derivative chromosomes not leading to true monosomies.

10 ), and/or chromosome 13 anomalies (primarily monosomy 13) had poor survival.

11 rognosis of patients, whereas trisomy 15 and monosomy 14 were found to have a protective effect on PF

12 more, we found heterozygous TNFRSF17 loss or monosomy 16 in 37 out of 168 patients with MM, including

13 uated the deletion sizes in 61 subjects with monosomy 1p36 from 60 families, and created a natural de

14 c molecular and clinical characterization of monosomy 1p36 is the largest and most comprehensive stud

15 Monosomy 1p36 is the most common terminal deletion syndr

16 Although monosomy 1p36 is the most commonly observed terminal del

17 ious molecular analysis of a large cohort of monosomy 1p36 subjects demonstrated that deletion sizes

18 mbryos develop similarly to euploid embryos, monosomy 21 embryos exhibit high rates of developmental

19 in clinically aggressive meningioma, whereas monosomy 22 is a common early molecular event in tumor f

20 Monosomy 22 was identified in 44% of tumors of tested pa

21 e was an association between GEP class 2 and monosomy 3 (Fisher exact test, P<0.0001), 54 of 260 tumo

22 subtypes: two associated with poor-prognosis monosomy 3 (M3) and two with better-prognosis disomy 3 (

23 ops in combination predicted the presence of monosomy 3 (P < 0.0001).

24 th the use of prognostic fine needle biopsy, Monosomy 3 a risk factor for metastatic death thought to

25 Selection criteria were (1) monosomy 3 and 8q amplification by cytogenetic or Decisi

26 had worse cytogenetic or molecular features (monosomy 3 and 8q amplification or class 2 87% vs. 57%;

27 hromosome aberrations, particularly combined monosomy 3 and 8q-gain (hazard ratio [HR] 12.6, 95% conf

28 Overall survival (5 years) for monosomy 3 and disomy 8 tumors by MLPA and GEP class 2 w

29 cytogenetic or DecisionDx-UM Class 2 and (2) monosomy 3 and large tumor size (T3-4 by American Joint

30 characteristics, with a preponderance having monosomy 3 anomalies.

31 Metastasis-free survival (5 years) for monosomy 3 by FISH was 40% to 60%, by MLPA was 30% to 40

32 MLPA can detect monosomy 3 cell populations in FFPE whole tumor sections

33 ssed in the disomy 3 group compared with the monosomy 3 group, whereas two spots were underexpressed.

34 ss dissection and corresponding disomy 3 and monosomy 3 halves.

35 enucleation or radiotherapy biopsy) revealed monosomy 3 in 18 tumors (90%).

36 One tumor showed monosomy 3 in the intraocular area of the tumor but loss

37 Monosomy 3 is an important predictor of death in melanom

38 survival of patients with tumors displaying monosomy 3 is generally short.

39 suggested that very-long-term survival with monosomy 3 is probably rare.

40 We identified 217 patients with a monosomy 3 melanoma exceeding 15 mm in basal diameter; t

41 Monosomy 3 of the primary tumor is the cytogenetic abnor

42 Of the 14 patients, 8 had monosomy 3 of the primary tumor, 2 had disomy 3, 1 had t

43 ation between detectable tumor DNA in AH and monosomy 3 status warrants further investigation and may

44 failure, rhegmatogenous retinal detachment, monosomy 3 status, and choroidal melanoma metastasis.

45 ted, whereas vimentin was upregulated in the monosomy 3 tumors (Student's t-test, P = 0.003 and P = 0

46 almost exclusively observed in patients with monosomy 3 UM.

47 y working to limit metastatic progression of monosomy 3 uveal melanoma cells.

48 noma develop metastases, and a further 5% of monosomy 3 uveal melanoma patients exhibit disease-free

49 tastasizing disomy 3 uveal melanoma; and iv) monosomy 3 uveal melanoma with long-term survival.

50 a with long-term survival; ii) metastasizing monosomy 3 uveal melanoma; iii) metastasizing disomy 3 u

51 low-to-negative HSP-27 protein expression in monosomy 3 uveal melanomas (Student's t-test; P = 0.011)

52 sed by chromosome in situ hybridization, and monosomy 3 was compared with clinicopathologic features.

53 Monosomy 3 was detected by FISH-CEP3 in 27 tumors (54%),

54 Monosomy 3 was detected in 47 of 71 metastasizing melano

55 letion and in a single case of FISH failure, monosomy 3 was found using SNP-A.

56 lanoma harboring GNAQ and BAP1 mutations and monosomy 3 was the only tumor that metastasized.

57 The tumor exhibited a monosomy 3 with loss of the wild-type allele of MLH1, lo

58 l melanomas showing chromosome 3 loss (i.e., monosomy 3) are fatal.

59 3, normal 8q), B (disomy 3, any 8q gain), C (monosomy 3, 1 extra copy of 8q), and D (monosomy 3, mult

60 omas with disomy 3 and from four tumors with monosomy 3, according to fluorescence in situ hybridizat

61 The frequency of monosomy 3, gain of chromosome 8q, and epithelioid cytom

62 , C (monosomy 3, 1 extra copy of 8q), and D (monosomy 3, multiple 8q gain).

63 n in uveal melanoma correlates strongly with monosomy 3.

64 tween metastatic melanomas, with and without monosomy 3.

65 in a significant number of patients without monosomy 3.

66 ith apparent transformation from disomy 3 to monosomy 3.

67 lysis identified 31 (62%) of the tumors with monosomy 3.

68 r sample were found on MLPA analysis to show monosomy 3.

69 s were analyzed for CTCs and the presence of monosomy-3 (M3) in CTCs.

70 F2 (n = 1), PTEN (n = 1), and EP300 (n = 1); monosomy 3p (n = 6); trisomy 6p (n = 3); trisomy 8q (n =

71 multiple cytogenetic abnormalities including monosomy 5 and 7.

72 ndary AML, 30 (50%) had abnormal karyotypes (monosomy 5 and/or 7 in 15 [25%]), and 11 (21%) showed FL

73 ivity for beta-catenin, CTNNB1 mutation, and monosomy 6 all identified a group of good-prognosis pati

74 , 29%, 29% [HR, 10.6, P = 0.02]); 3 complete monosomy, 6 disomy, 8q gain, and 8p gain (14%, 14%, NE [

75 , 39% [HR, 19.5, P < 0.001]); and 3 complete monosomy, 6 disomy, 8q gain, and 8p loss (3%, 28%, NE [H

76 %, 14%, NE [HR, 18.3, P = 0.02]); 3 complete monosomy, 6 disomy, and 8q gain (8%, 27%, 39% [HR, 19.5,

77 3, 6, and 8 disomy up to 39% for 3 complete monosomy, 6 disomy, and 8q gain.

78 h the higher-risk combinations of 3 complete monosomy, 6p gain, and 8q gain (0%, 29%, 29% [HR, 10.6,

79 of mutated SAMD9 through the development of monosomy 7 (-7), deletions of 7q (7q-), and secondary so

80 ns were highly prevalent among patients with monosomy 7 (37%, all ages) reaching its peak in adolesce

81 HR, 0.4; P = .009), and karyotype other than monosomy 7 (HR, 0.5; P = .02).

82 = 28, 5.9%), trisomy 8 alone (n = 10, 2.1%), monosomy 7 (n = 9, 1.9%), non-Down-associated trisomy 21

83 CBFA2T3/GLIS2, KMT2A-rearranged lesions and monosomy 7 (NCK-7) independently predicted a poor outcom

84 equently deleted as part of the 7q-minus and monosomy 7 abnormalities of human acute myeloid leukemia

85 at diagnosis and more likely to present with monosomy 7 and advanced disease compared with wild-type

86 Monosomy 7 and del(7q) are associated with adverse featu

87 Monosomy 7 and deletion of 7q are recurring abnormalitie

88 Monosomy 7 and deletions of 7q are recurring leukemia-as

89 Patients with monosomy 7 and trisomy 8 have distinctly different clini

90 ults imply distinct molecular mechanisms for monosomy 7 and trisomy 8 MDS and implicate specific path

91 tion were dysregulated in CD34 cells of both monosomy 7 and trisomy 8 MDS.

92 enitor cells obtained from MDS patients with monosomy 7 and trisomy 8 using Affymetrix GeneChips.

93 Aneuploidy, especially monosomy 7 and trisomy 8, is a frequent cytogenetic abno

94 n IKZF1, a gene located on chromosome 7, and monosomy 7 are mutually exclusive in this disease.

95 biological explanation of why patients with monosomy 7 are rarely diagnosed with high age-adjusted H

96 hematopoiesis, of which 95% was maladaptive (monosomy 7 cancer mutations), and 51% had adaptive natur

97 tion via the Jak/Stat system was abnormal in monosomy 7 CD34 cells, with increased phosphorylated sig

98 Proportions of monosomy 7 cells detected in IC Flow-FISH were compared

99 lthy individuals did not show an increase in monosomy 7 cells in culture.

100 for interphase cells was developed to detect monosomy 7 cells in myelodysplastic syndrome patients.

101 the effect of pharmacologic doses of GCSF on monosomy 7 cells to determine whether this chromosomal a

102 The abnormal response of monosomy 7 cells to GCSF would be explained by the expan

103 Hundreds to thousands of monosomy 7 cells were consistently detected from 10-20 m

104 in the trisomy 8 cells and decreased in the monosomy 7 cells when compared with normal cells from th

105 GCSF increase the proportion of preexisting monosomy 7 cells.

106 d significant increases in the proportion of monosomy 7 cells.

107 In 2 patients, we traced monosomy 7 clonal evolution from preexisting clones harb

108 plained by the expansion of undifferentiated monosomy 7 clones expressing the class IV GCSFR, which i

109 odysplastic syndrome (2 children), both with monosomy 7 deletions, and acute myelogenous leukemia (1

110 alysis of a panel of leukemia specimens with monosomy 7 did not reveal mutations in these or in the c

111 The presence of monosomy 7 had no additional adverse effect on MDS and J

112 osed with myelodysplastic syndrome (MDS) and monosomy 7 harbor germline mutations in GATA2.

113 The abnormalities of chromosome 7 were monosomy 7 in 4 patients (1 of which had add 7p in the r

114 ration has been linked to the development of monosomy 7 in severe congenital neutropenia and aplastic

115 Interphase BM cells with trisomy 8 or monosomy 7 increased in 6 of 6 patients with these abnor

116 Moreover IKZF1 expression is halved in monosomy 7 leukemias.

117 be an unusual case of Philadelphia-positive, monosomy 7 myelodysplasia progressing to acute myeloid l

118 Forty leukemias with monosomy 7 or a del(7q) were screened for PIK3CG mutatio

119 CI, 3.2%-13.3%; P = .009), and evolution to monosomy 7 or complex cytogenetics was more common in th

120 e most common cytogenetic abnormalities were monosomy 7 or del(7q) (53 cases); this was common both i

121 mutations in typically large deletion 7q and monosomy 7 patients.

122 conventional cytogenetics; identification of monosomy 7 populations was verified with FACS; and patie

123 he markers D7S486 and D7S2456, and a case of monosomy 7 revealed allele loss for loci at both 7q31 an

124 ith higher HbF levels, whereas patients with monosomy 7 seldom showed enhanced LIN28B expression.

125 Although AA patients with monosomy 7 showed a similar prognosis to those with prim

126 CD34 cells in monosomy 7 showed up-regulation of genes inducing leukem

127 e most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalit

128 Trisomy 8 or monosomy 7 was shown by fluorescence in situ hybridizati

129 marrow mononuclear cells from patients with monosomy 7 were cultured with 400 ng/ml GCSF, all sample

130 IC Flow-FISH allows for detecting monosomy 7 without requiring bone marrow procurement or

131 tumor cells by chromosomal deletions (e.g., monosomy 7) or copy number neutral loss of heterozygosit

132 which may spontaneously disappear (transient monosomy 7) or progress to myelodysplastic syndrome (MDS

133 ts, and cytogenetic abnormalities (including monosomy 7) were observed in 4 patients.

134 peak in adolescence (72% of adolescents with monosomy 7).

135 dverse outcome was observed in patients with monosomy 7, abnormalities of 5q, and t(6;9)(p23;q34).

136 in one-fourth of JMML patients present with monosomy 7, and more than half of patients show elevated

137 in patients with trisomy 8, but decreased in monosomy 7, as compared with healthy control donor marro

138 sually manifested with marrow hypoplasia and monosomy 7, but the somatic mutation landscape was indis

139 f patients with myelodysplastic syndrome and monosomy 7, GCSF receptor (GCSFR) protein was increased.

140 5A and KMT2A rearrangements, in 9% each; and monosomy 7, in 6%.

141 r, when adjusted for the selection bias from monosomy 7, mutational status had no effect on the hemat

142 Monosomy 7, occurring as the sole cytogenetic anomaly in

143 For patients with 44 chromosomes, monosomy 7, the presence of a dicentric chromosome, or b

144 romosomal abnormalities associated with MDS (monosomy 7, trisomy 8, and 5q-) for evidence of apoptosi

145 3 malignancies often occur in the setting of monosomy 7, trisomy 8, and acquired mutations in ASXL1 o

146 ents often experienced transient aplasia and monosomy 7, whereas MECOM patients presented early-onset

147 n two-third of patients or more and involves monosomy 7, which may spontaneously disappear (transient

148 history studies, especially in patients with monosomy 7, will help formulate evidence-based surveilla

149 ion to other hematologic diseases, including monosomy 7.

150 as a recessive TSG in myeloid leukemias with monosomy 7.

151 s were seen in cultures of cells with 5q- or monosomy 7.

152 etions, as an alternate mechanism underlying monosomy 7.

153 KN2B, or RUNX1), and 1 of the 7 patients had monosomy 7.

154 ns, bone marrow failure, myelodysplasia, and monosomy 7.

155 myeloid leukemia, sometimes associated with monosomy 7.

156 h a very high prevalence in adolescents with monosomy 7.

157 cted from 10-20 mL of blood in patients with monosomy 7.

158 osome 7 because of the specific relevance of monosomy 7.

159 Myeloid malignancies with monosomy 7/5q- were associated with high hyperdiploid AL

160 cases were associated with advanced age and monosomy 7/deletion 7q (-7/del(7q)) constituting poor pr

161 ngement, and for acute myeloid leukemia with monosomy 7; antimetabolite-based therapy for acute lymph

162 omic events (multilineage: HBS1L deletion or monosomy 7; lymphoid: IKZF1-/- or CDKN2A/PAX5 deletions/

163 Monosomy 9 (defined by LOH of all informative markers an

164 e aneuploidies, including meiotic trisomies, monosomies and deletions.

165 ta indicate CGH arrays can be used to detect monosomies and trisomies, to predict the sites of chromo

166 ; Nlgn3, BTBR and Slc6A4; and also between X monosomy and Mecp2.

167 heart defects in association with distal 11q monosomy and refine the critical region to an approximat

168 mosome 5 abnormalities in male GCTs, genetic monosomy and regional deletion, the latter identifying t

169 with expressivity dependent on the extent of monosomy and the parental origin of the single X.

170 patients with MK, complex karyotype without monosomies, and sole trisomy 8, respectively (P < .0001)

171 romosome, whereas others showed hyperploidy, monosomy, and/or trisomy.

172 Chromosome 7 translocations, deletions, or monosomy are associated with myelodysplasia (MDS) and ac

173 such as indels and aneuploidies (especially monosomies) are proportionately much more likely to cont

174 we find that chromosome dosage variation (X-monosomy) associated with Turner syndrome affects the fu

175 an chromosome 16p, the method identified all monosomies between 267 and 1567 kb with a high degree of

176 gene(s) responsible for these deficits in X-monosomy by means of a deletion mapping strategy.

177 included four rare trisomies and all of the monosomies, consistent with the influence of selective f

178 ECOG]) for IgH translocations, chromosome 13 monosomy/deletions (Delta13), and ploidy by DNA content.

179 g immunoglobulin (Ig) loci and chromosome 13 monosomy (Delta 13) are frequent cytogenetic findings in

180 with cytogenetic abnormalities resulting in monosomy for 7p and partial monosomy of 7q.

181 in trisomies for chromosomes 8, 15, and 17; monosomy for chromosome 10; and amplification of the dis

182 s with 11p loss had patterns consistent with monosomy for chromosome 11.

183 In Ms1Rhr, segmental monosomy for the same 33 genes that are triplicated in T

184 rved in 11 patients (53%) including one with monosomy for the sex chromosome as the sole abnormality.

185 Monosomy for the X chromosome in humans creates a geneti

186 Monosomy for the X chromosome is viable because of dosag

187 aortic valve disease in girls and women with monosomy for the X chromosome, or Turner syndrome (TS).

188 th X chromosomal rearrangements resulting in monosomy from Xpter to Xp22.

189 tasis was increased for chromosome 3 partial monosomy (hazard ratio [HR], 2.84; P = 0.001), 3 complet

190 ard ratio [HR], 2.84; P = 0.001), 3 complete monosomy (HR, 6.7, P < 0.001), 6q loss (HR, 3.1, P = 0.0

191 h a shortened survival such as chromosome 13 monosomy, hypodiploidy, and others.

192 rence panels, and the frequent occurrence of monosomies in embryos, whereby the remaining chromosome

193 chromosome 7 is the most frequent autosomal monosomy in acute myeloid leukemia (AML), where it assoc

194 Although the reasons for monosomy in cancer has remained obscure, one possibility

195 d genes to compensate for the sex chromosome monosomy in Drosophila XY males compared with XX females

196 all histologic subtypes with predominance of monosomy in teratomas.

197 ed as >/= 2 autosomal monosomies or a single monosomy in the presence of other structural abnormaliti

198 defined as 2 or more monosomies, or a single monosomy in the presence of structural abnormalities, ha

199 Here, we have addressed the issue of monosomy in tumor development by using functional comple

200 frequencies of aneuploidy (both trisomy and monosomy) in addition to elevated rates of chromosome re

201 tion of these genes has been hampered by the monosomy itself, which has resulted in a paucity of smal

202 ar stress response that would be expected if monosomy led to protein destabilization and thus cytotox

203 oss of either region, thereby explaining the monosomy observed in sporadic melanomas.

204 ry leukemia presented as myelodysplasia with monosomies of chromosomes 5 and 7 and abnormalities of c

205 All previous cases reported with partial monosomy of 12p13.33 are associated with neurodevelopmen

206 ies resulting in monosomy for 7p and partial monosomy of 7q.

207 niformly fatal brain tumors--often have both monosomy of chromosome 10 and gains of the epidermal gro

208 iciency of the tumor suppressor ANXA7 due to monosomy of chromosome 10 provides a clinically relevant

209 risk of a high-risk UM developing (carrying monosomy of chromosome 3).

210 ccurs almost exclusively with tumors showing monosomy of chromosome 3.

211 0.017) and more often had high-risk tumors (monosomy of chromosome 3; P = 0.04) than in patients wit

212 We present evidence that this formation of monosomy of chromosome 5, which is apparently a result o

213 s found in 15 of 37 (40.5%) cases suggesting monosomy of chromosome 5.

214 Monosomy of chromosome 7 is the most frequent autosomal

215 Monosomy of chromosome 7 was the most frequent cytogenet

216 s preselected for localized 9p21 deletion or monosomy of chromosome 9.

217 Nonrandom interstitial deletions and monosomy of chromosomes 5, 7, and 17 in refractory myelo

218 expression in more complex aneuploids, e.g., monosomy of one chromosome arm and trisomy of another wa

219 1p36 deletion syndrome, a disorder caused by monosomy of the short arm of human chromosome 1p.

220 Monosomy of the X chromosome owing to divergence between

221 digm change in understanding the effect of X-monosomy on the development of visuospatial abilities in

222 l karyotype (MK), defined as >/= 2 autosomal monosomies or a single monosomy in the presence of other

223 aisal of fearful faces in the condition of X-monosomy or Turner syndrome.

224 nosomal karyotype (MK), defined as 2 or more monosomies, or a single monosomy in the presence of stru

225 s, which is accomplished by tumor-associated monosomy, provides a significant growth advantage over t

226 the role of X chromosome abnormalities (i.e. monosomy rates and inactivation patterns) in autoimmunit

227 ompensation failure or naturally occurring X monosomy remains unknown.

228 escue, with and without concomitant trisomy, monosomy rescue, and mitotic formation of a mosaic segme

229 S) are associated with tetrasomy, trisomy or monosomy, respectively, for part of chromosome 22q11.

230 FS/DGS), result from tetrasomy, trisomy, and monosomy, respectively, of part of 22q11.

231 X-monosomy selectively impairs explicit recognition of fea

232 molecular features associated with this sole monosomy subtype (-7 AML), which may give insights into

233 chromosome number, mostly through reciprocal monosomy-trisomy of homeologous chromosomes (1:3 copies)

234 stasis in 1, 3, 5, and 7 years for 3 partial monosomy was 1%, 5%, 14%, and 17%; for 3 complete monoso

235 omy was 1%, 5%, 14%, and 17%; for 3 complete monosomy was 3%, 19%, 28%, and 37%; for 6q loss was 8%,

236 Over the same period, trisomies and monosomies were identified in 11.6% of POCs and subchrom

237 ies) or only chromosomal losses (one or more monosomies) were found in participants with nonmalignant

238 Complete or partial monosomy with respect to the X chromosome is the genetic

239 ome 21 markers, and cffDNA from a fetus with monosomy X (Turner syndrome) had decreased hybridization

240 syndrome (TS) results from whole or partial monosomy X and is mediated by haploinsufficiency of gene

241 euploidy, including trisomies 13, 18, 21 and monosomy X as well as fetal sex.

242 aryotype, differential expression implicates monosomy X in altered levels of placental genes and in s

243 rred to reflect X/Y pair dosage sensitivity, monosomy X is a leading cause of miscarriage in humans w

244 Our results suggest monosomy X may skew trophoblast cell type composition an

245 The abnormalities seen in Turner syndrome (monosomy X) presumably result from haploinsufficiency of

246 ty for markers spanning the X chromosome, or monosomy X, in part of one leiomyomatous lesion.

247 henotype associated with complete or partial monosomy X.

248 netic counseling of individuals with partial monosomy X.

249 he lack of a growth abnormality in mice with monosomy X.

250 Human monosomy-X (45,X) causes Turner syndrome (TS), altering

251 ogenic hiPSC-derived NCC panels representing monosomy-X can serve as powerful models of early NC deve

252 To learn how monosomy-X may impact embryonic development, we turned t