ライフサイエンスコーパス: monosomy

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

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

3 risk of metastasis conferred by chromosome 3 monosomy.

4 cterised by complete or partial X-chromosome monosomy.

5 thod for producing mice with tissue-specific monosomies.

6 seases caused by or associated with specific monosomies.

7 h derivative chromosomes not leading to true monosomies.

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

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

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

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

12 Monosomy 1p36 is the most common terminal deletion syndr

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

28 Monosomy 3 is an important predictor of death in melanom

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

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

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

32 Monosomy 3 of the primary tumor is the cytogenetic abnor

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

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

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

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

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

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

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

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

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

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

43 Monosomy 3 was detected in 47 of 71 metastasizing melano

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

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

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

47 tween metastatic melanomas, with and without monosomy 3.

48 in a significant number of patients without monosomy 3.

49 ith apparent transformation from disomy 3 to monosomy 3.

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

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

52 n in uveal melanoma correlates strongly with monosomy 3.

53 multiple cytogenetic abnormalities including monosomy 5 and 7.

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

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

56 , 29%, 29% [HR, 10.6, P = 0.02]); 3 complete monosomy, 6 disomy, 8q gain, and 8p gain (14%, 14%, NE [

57 , 39% [HR, 19.5, P < 0.001]); and 3 complete monosomy, 6 disomy, 8q gain, and 8p loss (3%, 28%, NE [H

58 %, 14%, NE [HR, 18.3, P = 0.02]); 3 complete monosomy, 6 disomy, and 8q gain (8%, 27%, 39% [HR, 19.5,

59 3, 6, and 8 disomy up to 39% for 3 complete monosomy, 6 disomy, and 8q gain.

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

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

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

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

64 = 28, 5.9%), trisomy 8 alone (n = 10, 2.1%), monosomy 7 (n = 9, 1.9%), non-Down-associated trisomy 21

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

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

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

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

69 Monosomy 7 and deletion of 7q are recurring abnormalitie

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

86 GCSF increase the proportion of preexisting monosomy 7 cells.

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

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

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

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

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

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

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

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

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

96 Moreover IKZF1 expression is halved in monosomy 7 leukemias.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

117 5A and KMT2A rearrangements, in 9% each; and monosomy 7, in 6%.

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

119 Monosomy 7, occurring as the sole cytogenetic anomaly in

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

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

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

123 ion to other hematologic diseases, including monosomy 7.

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

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

126 etions, as an alternate mechanism underlying monosomy 7.

127 myeloid leukemia, sometimes associated with monosomy 7.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

154 Monosomy for the X chromosome in humans creates a geneti

155 Monosomy for the X chromosome is viable because of dosag

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

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

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

159 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

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

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

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

163 all histologic subtypes with predominance of monosomy in teratomas.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

178 Monosomy of chromosome 7 is the most frequent autosomal

179 Monosomy of chromosome 7 was the most frequent cytogenet

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

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

182 1p36 deletion syndrome, a disorder caused by monosomy of the short arm of human chromosome 1p.

183 Monosomy of the X chromosome owing to divergence between

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

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

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

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

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

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

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

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

192 X-monosomy selectively impairs explicit recognition of fea

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

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

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

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

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

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

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

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

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

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

203 henotype associated with complete or partial monosomy X.

204 netic counseling of individuals with partial monosomy X.

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