ライフサイエンスコーパス: trisomy 21

1 sted abnormalities of chromosome 21 (usually trisomy 21).

2 rsor protein mutations, and Down's syndrome (trisomy 21).

3 CR incidence in children with Down syndrome (trisomy 21).

4 nset dementia observed in Down syndrome (DS; trisomy 21).

5 must also play a role in AML associated with trisomy 21.

6 21 that levels of AGTR1 protein are lower in trisomy 21.

7 an chromosome 21 which is mainly observed as trisomy 21.

8 the neurocognitive deficits associated with Trisomy 21.

9 tely 85% of women pregnant with fetuses with trisomy 21.

10 diagnosis, particularly for the detection of trisomy 21.

11 ociated with nondisjunction (NDJ) leading to trisomy 21.

12 ssed in children with Down syndrome (DS), or trisomy 21.

13 e associated with human trisomies other than trisomy 21.

14 l or clinical observations of the effects of trisomy 21.

15 use of either parameter alone as a marker of trisomy 21.

16 taAPP mRNA and Abeta levels are increased in trisomy 21.

17 es, little is known about paternally derived trisomy 21.

18 ically significantly smaller in fetuses with trisomy 21.

19 non-diseased controls that were unrelated to trisomy 21.

20 cident with many of the clinical findings in trisomy 21.

21 d lymphoblastoid cell lines with and without trisomy 21.

22 in development may parallel abnormalities in trisomy 21.

23 t of DNA in centromere 21 is associated with trisomy 21.

24 lus rhamnosus in an 11-month-old female with trisomy 21.

25 thers with knowledge that their offspring is trisomy 21.

26 id neoplasms of patients with constitutional trisomy 21.

27 m a pair of monozygotic twins discordant for trisomy 21.

28 of fetal origin, mutated GATA1 (GATA1s), and trisomy 21.

29 unced increase (grade 3), 5 had CF and 6 had trisomy-21.

30 ted in fetuses with cystic fibrosis (CF) and trisomy-21.

31 rmed in 18 formalin-preserved fetuses (eight trisomy 21, 10 euploid control fetuses), and the pelvic

32 sitive rates of 0.09%, <0.01%, and 0.08% for trisomies 21, 18, and 13, respectively.

33 ting detected all cases of aneuploidy (5 for trisomy 21, 2 for trisomy 18, and 1 for trisomy 13; nega

34 fetuses (4.6%) and 16 of the 53 fetuses with trisomy 21 (30%).

35 age-adjusted chance of carrying a fetus with trisomy 21 (58.7% vs 46.1%; OR, 1.66 [95% CI, 1.22-2.28]

36 In Down's syndrome (trisomy 21), a dementia syndrome occurs that is phenotyp

37 requires at least three cooperating events--trisomy 21, a GATA1 mutation, and a third, as yet undefi

38 0.84 is used as a cutoff sign to screen for trisomy 21, a sensitivity of 16%, specificity of 97%, od

39 polymorphisms makes it possible to classify trisomy 21 according to the parental origin and stage (m

40 Transcriptome analysis revealed that trisomy 21 activates the interferon transcriptional resp

41 the increased knowledge of the way in which trisomy 21 affects hematopoiesis and the specific geneti

42 Trisomy 21 affects virtually every organ system and resu

43 yndrome and may aid in weighing the risks of trisomy 21 against the risks of performing amniocentesis

44 nalyzed transcriptome data from fetuses with trisomy 21, age and sex-matched euploid controls, and em

45 Except for one fetus with trisomy 21, all fetuses with abnormalities had relativel

46 onosomy 7 (n = 9, 1.9%), non-Down-associated trisomy 21 alone (n = 7, 1.5%), and rare recurrent chrom

47 nducted a multicenter study of screening for trisomies 21 and 18 among patients with pregnancies betw

48 First-trimester screening for trisomies 21 and 18 on the basis of maternal age, matern

49 positive predictive values for detection of trisomies 21 and 18 than standard screening.

50 e false positive rates of detection of fetal trisomies 21 and 18 with the use of standard screening a

51 For trisomies 21 and 18, the false positive rates with cfDNA

52 cluding amniotic fluid RNA from fetuses with trisomies 21 and 18, umbilical cord blood, and blood fro

53 ed with a moderate increase (grade 2), 2 had trisomy 21 and 2 had CF.

54 From 1989 through 1993, 170 infants with trisomy 21 and 267 randomly selected control infants wer

55 tandard screening were 45.5% versus 4.2% for trisomy 21 and 40.0% versus 8.3% for trisomy 18.

56 gnancy that is defined by the combination of trisomy 21 and a GATA1 mutation.

57 d by the large number of genes duplicated in Trisomy 21 and a lack of understanding of the effect of

58 al myelopoiesis and leukemia associated with trisomy 21 and Alzheimer's Disease.

59 s knowledge of the unique pathophysiology of trisomy 21 and an appreciation for the desires of the fa

60 directly comparable to those in humans with trisomy 21 and are the most widely used animal model of

61 The mean gestational ages for trisomy 21 and control fetuses were 17.0 and 16.7 weeks,

62 n the association between paternally derived trisomy 21 and excessive male probands.

63 children with karyotypically confirmed full trisomy 21 and from 36 normal siblings (mean age 7.4 yea

64 cated protein (GATA1s), suggesting that both trisomy 21 and GATA1 mutations are required for leukemog

65 d from ultrasound studies in 27 fetuses with trisomy 21 and in 135 fetuses with a normal karyotype.

66 , 15.0-20.4 weeks) with chromosomally proved trisomy 21 and in 160 chromosomally normal fetuses (mean

67 c bones could be assessed in 19 fetuses with trisomy 21 and in 87 fetuses with a normal karyotype.

68 ll lines as well as patients presenting with trisomy 21 and Prader-Willi syndrome.

69 In both trisomy 21 and rare cases of triplication of amyloid pre

70 A 17-yr-old, 87-kg male patient with trisomy 21 and with respiratory failure and progressive

71 nset dementia observed in Down syndrome (DS; trisomy 21) and the dementia component of myotonic dystr

72 normal pregnancies, 268 (82-2%) of 326 with trisomy 21, and 253 (77.9%) of 325 with other chromosoma

73 genomic DNA samples from 23 individuals with trisomy 21, and results were compared to genotypes previ

74 s of males among paternally derived cases of trisomy 21, and suggests that some of the excess of male

75 ntributes to many of the clinical impacts of trisomy 21, and that interferon antagonists could have t

76 diabetes mellitus (JDM), Down syndrome (DS)/trisomy 21, and the carrier state of Lesch-Nyhan syndrom

77 f PAH, ex-prematurity, WHO functional class, trisomy 21, and time since diagnosis were associated wit

78 sess the perturbations of gene expression in trisomy 21, and to eliminate the noise of genomic variab

79 cycline, female sex, black race, presence of trisomy 21, and treatment with amsacrine increase the ri

80 karyoblastic leukemia (AMKL) associated with Trisomy 21, and, lastly, a particular subtype of anemia

81 e, mouse models of Down's syndrome and human trisomy 21 are consistent with these predictions.

82 GATA1 mutations and trisomy 21 are inextricably linked in the neonatal leuke

83 pathogenesis for DS-ALL leukemogenesis, with trisomy 21 as an initiating or first hit and with chromo

84 dings profoundly affect our understanding of trisomy 21 as they suggest that virtually all maternal n

85 nd human induced pluripotent stem cells with trisomy 21, as well as cancer cells.

86 ears, including the t(1;22)(p13;q13) and the trisomy 21 associated with GATA1 mutations.

87 idates in the pathogenesis of Down syndrome (trisomy 21)-associated transient myeloproliferative diso

88 of the CRELD1 gene from individuals with non-trisomy 21-associated AVSD identified heterozygous misse

89 d an oncomiR involved in the pathogenesis of trisomy 21-associated megakaryoblastic leukemia.

90 nce of multilineage myeloid hematopoiesis in trisomy 21 at the fetal liver stage.

91 Although frequently associated with trisomy 21, autosomal dominant AVSD has also been descri

92 S-AMKL requires not only the presence of the trisomy 21 but also that of GATA1 mutations.

93 develop AD due to Presenilin 1 mutations or Trisomy 21, but not in skin fibroblasts from normal indi

94 ed the possible improvement in screening for trisomy 21 by examining the fetal nasal bone with ultras

95 The distribution of trisomy 21 by origin was 86% maternal (75% MI and 25% MI

96 In screening for trisomy 21, by a combination of maternal age and fetal n

97 high-throughput whole sequencing data, that trisomy 21 can be detected in a minor ('fetal') genome w

98 recombination patterns were examined in 400 trisomy 21 cases of maternal meiosis I origin, grouped b

99 We studied 133 trisomy 21 cases with maternal MII errors to test the hy

100 e 21 is globally up-regulated in human fetal trisomy 21 cases, both in cerebral cortex extracts and i

101 om the observation of Alzheimer's disease in trisomy 21 cases.

102 xcess male probands among paternally derived trisomy 21 cases.

103 h the highest estimated risk included 77% of trisomy-21 cases.

104 Trisomy 21 causes Down syndrome (DS), but the mechanisms

105 Although it is clear that trisomy 21 causes Down syndrome, the molecular events ac

106 Trisomy 21 causes skeletal alterations in individuals wi

107 Trisomy 21 cells show increased induction of interferon-

108 large paternally derived population of free trisomy 21 conceptuses ( n = 67).

109 irments in early brain development caused by trisomy 21 contribute significantly to memory deficits i

110 Prenatal diagnosis of trisomy 21 currently relies on assessment of risk follow

111 oaches through their application to a set of trisomy 21 data.

112 -segregation leading to aneuploid, including trisomy 21, daughters, which is prevented by LiCl additi

113 n maternal and paternal age and subgroups of trisomy 21 defined by parental origin and meiotic stage.

114 Individuals with trisomy 21 display complex phenotypes with differing deg

115 is the only well-established risk factor for trisomy 21 Down syndrome (DS), but the basis of the mate

116 ying 2053 fetuses as normal and 30 as having trisomy 21 Down's syndrome (as confirmed by cytogenetic

117 50, SD = 7) healthy, nondemented adults with trisomy 21 Down's syndrome.

118 se (AD) also occur in familial AD and in all trisomy-21 Down syndrome (DS) patients, suggesting a com

119 Trisomy 21 (Down syndrome) is a common condition encount

120 Trisomy 21 (Down syndrome) is associated with a high inc

121 Trisomy 21 (Down syndrome) results in cerebellar dysmorp

122 l defect is most often found associated with trisomy 21 (Down syndrome), but the responsible gene or

123 we successfully identified all nine cases of trisomy 21 (Down syndrome), two cases of trisomy 18 (Edw

124 e trisomy 16 (Ts16) mouse, a model for human trisomy 21 (Down syndrome).

125 ver-operating-characteristic curve (AUC) for trisomy 21 (Down's syndrome) with cfDNA testing versus s

126 er incidence of solid tumours in people with trisomy 21 (Down's syndrome).

127 Children with trisomy 21/Down syndrome (DS) are at high risk to develo

128 The pathology of trisomy 21/Down syndrome includes cognitive and memory d

129 Significantly, trisomy 21/Down syndrome patients develop early onset AD

130 ploidy is sometimes observed in humans (e.g. trisomy 21; Down's syndrome), and it arises more frequen

131 uses early-onset Alzheimer's disease (AD) in trisomy 21 (DS).

132 We reveal that undifferentiated trisomy 21 ES cells show DYRK1A-dose-sensitive reduction

133 nce of an extra copy of human chromosome 21 (trisomy 21), especially region 21q22.2, causes many phen

134 In screening for trisomy 21, examination of the fetal nasal bone could re

135 e DNA methylation changes can be detected in trisomy 21 fetal liver mononuclear cells, prior to the a

136 splantation assays to study hematopoiesis in trisomy 21 fetal livers with normal GATA1 alleles.

137 The nasal bone was absent in 43 of 59 (73%) trisomy 21 fetuses and in three of 603 (0.5%) chromosoma

138 with detection of approximately half of all trisomy 21 fetuses at a 5% false-positive rate.

139 were significantly greater (P < .05) in the trisomy 21 fetuses than in the control fetuses and were

140 ases JAK1 and TYK2 suppress proliferation of trisomy 21 fibroblasts, and this defect is rescued by ph

141 founding GATA1 mutation that cooperates with trisomy 21, followed by the acquisition of additional so

142 pression changes and cellular pathologies of trisomy 21, free from genetic and epigenetic noise.

143 entiation) is an alteration that persists in trisomy 21 from undifferentiated embryonic stem (ES) cel

144 uld be involved in the induction of both the trisomy 21 genotype and its resultant phenotype.

145 atal-screening population, cfDNA testing for trisomy 21 had higher sensitivity, a lower false positiv

146 cffDNA from three fetuses with trisomy 21 had increased hybridization signals on the ma

147 About half of people with trisomy 21 have a congenital heart defect (CHD), whereas

148 Second-trimester fetuses with trisomy 21 have a significantly greater iliac angle than

149 Recent studies of trisomy 21 have shown that altered levels of recombinati

150 iduals with Down syndrome (DS; also known as trisomy 21) have a markedly increased risk of leukemia i

151 ing result was considered to be positive for trisomy 21 if the calculated risk was at least 1 in 270

152 yocytic development, less is known about how trisomy 21 impacts blood formation, particularly in the

153 cluding cancer and genetic disorders such as trisomy 21 in Down's syndrome.

154 signaling cascade consistently activated by trisomy 21 in human cells.

155 an systems affected by trisomy 16 in mice or trisomy 21 in humans including the brain, eye, ear, face

156 h an increased risk of aneuploidy, including Trisomy 21 in humans.

157 likely increase our awareness of the role of trisomy 21 in transient myeloproliferative disorder and

158 ncreased chromosome aneuploidy, particularly trisomy 21, in neurons and other cells.

159 bserved in maternal blood when the fetus had trisomy 21 indicates that noninvasive cytogenetic diagno

160 tructurally normal heart, demonstrating that trisomy 21 is a significant risk factor but is not causa

161 Trisomy 21 is associated with Down's syndrome, the most

162 Trisomy 21 is associated with hematopoietic abnormalitie

163 ze that the observed lower blood pressure in trisomy 21 is partially caused by the overexpression of

164 Trisomy 21 is the cause of Down [corrected] syndrome (DS

165 genomic basis for Down syndrome (DS), human trisomy 21 is the most common genetic cause of intellect

166 Trisomy 21 is the most frequent genetic cause of cogniti

167 Down syndrome (trisomy 21) is the most common genetic cause of intellec

168 e presence of three copies of chromosome 21 (trisomy 21), is characterized by impairments in learning

169 Down syndrome (DS), or trisomy 21, is a common disorder associated with several

170 Down syndrome, or trisomy 21, is a complex genetic disease resulting from

171 disorder (TMD), restricted to newborns with trisomy 21, is a megakaryocytic leukemia that although l

172 Down syndrome (DS), trisomy 21, is a multifaceted condition marked by intell

173 Down syndrome (DS), caused by trisomy 21, is the most common chromosomal disorder asso

174 Down syndrome (DS), or Trisomy 21, is the most common genetic cause of cognitiv

175 Down syndrome (DS), caused by trisomy 21, is the most common genetic cause of intellec

176 Our findings indicate that trisomy 21 itself is associated with cell-autonomous exp

177 r caused by a third chromosome 21 in humans (Trisomy 21), leading to neurological deficits and cognit

178 The mechanisms by which trisomy 21 leads to the characteristic Down syndrome (DS

179 e borns a large excess of females, and among trisomy 21 live borns an excess of males.

180 hymidine, or dimethylglycine to the cultured trisomy 21 lymphoblastoid cells improved the metabolic p

181 to determine whether the supplementation of trisomy 21 lymphoblasts in vitro with selected nutrients

182 ition of problems specific to the child with trisomy 21 make it safer and ethical to offer surgical s

183 pared to a normal female map and a published trisomy 21 map derived from meiosis II NDJ.

184 hat increased gene dosage of human DYRK1A in trisomy 21 may disrupt the function of fully differentia

185 uring mitosis, resulting in apoptosis and/or trisomy 21 mosaicism.

186 ribed in newborns with Down syndrome (DS; or trisomy 21 mosaics).

187 nced maternal age is a major risk factor for trisomy 21, most children with Down syndrome are born to

188 c leukemia; however, the specific effects of trisomy 21 on hematopoiesis remain poorly defined.

189 females with DS yet the specific effects of trisomy 21 on the skeleton remain poorly defined.

190 Trisomy 21, one of the most prevalent congenital birth d

191 Most infants (74%) had trisomy 21 (or mosaicism) as the only cytogenetic abnorm

192 Trisomy 21, or Down syndrome (DS), is the most common ge

193 Trisomy 21, or Down's syndrome (DS), is the most common

194 with karyotypic abnormalities in addition to trisomy 21 (P = .037).

195 -fold (95% CI: 1.8, 12.5) increase in RR for trisomy 21 (P =.002).

196 e with standard screening (0.3% vs. 3.6% for trisomy 21, P<0.001; and 0.2% vs. 0.6% for trisomy 18, P

197 Nineteen Trisomy 21 patients (17 to 37 years of age) contributed

198 y and pathogenesis of periodontal disease in Trisomy 21 patients.

199 enesis of destructive periodontal disease in Trisomy 21 patients.

200 Of 19 Trisomy 21 periodontitis lesions, 6 (32%) were positive

201 es and putative periodontopathic bacteria in Trisomy 21 periodontitis.

202 has been hypothesized to be involved in many Trisomy 21 phenotypes including skeletal abnormalities.

203 that GEDDs may therefore contribute to some trisomy 21 phenotypes.

204 Human trisomy 21 pluripotent cells of various origins, human e

205 Of those, one trisomy 21 POC was also mosaic for trisomy 20, one had a

206 Remarkably, trisomy 21 progenitors exhibited enhanced production of

207 Prenatal diagnosis of trisomy 21 requires an invasive test in women regarded a

208 and regulated kinase 1A (Dyrk1A) gene due to trisomy 21 resulted in overexpression of Dyrk1A and elev

209 The leukemic clone had trisomy 21 resulting from duplication of chromosome 21 c

210 Trisomy 21 results in Down's syndrome, but little is kno

211 nsights into the genetic mechanisms by which trisomy 21 results in DS.

212 The estimated trisomy-21 risk, from maternal age and fetal nuchal-tran

213 R = 1.9), black race (RR = 1.7), presence of trisomy 21 (RR = 3.4), and exposure to amsacrine (RR = 2

214 the 57 normal samples, and two of the three trisomy 21 samples.

215 es that noninvasive cytogenetic diagnosis of trisomy 21 should be feasible.

216 Additionally, human megakaryocytes with trisomy 21 show increased proliferation and decreased NF

217 In patients with trisomy 21, similar somatic GATA1s-producing mutations p

218 n fetal cells from pregnancies affected with trisomy 21 (t21) and trisomy 13 (t13).

219 Trisomy 21 (T21) causes Down syndrome (DS), but the mech

220 We observed that trisomy 21 (T21) causes increased production of haemogen

221 equences of dosage imbalance attributable to trisomy 21 (T21) has accelerated because of recent advan

222 TBs, we demonstrated that differentiation of trisomy 21 (T21) hPSCs recapitulates the delayed CTB mat

223 B-cell leukemia in Down syndrome implicates trisomy 21 (T21) in perturbing fetal hematopoiesis.

224 Patients with Down syndrome (trisomy 21, T21) have hematologic abnormalities througho

225 blasts from monozygotic twins discordant for trisomy 21 that levels of AGTR1 protein are lower in tri

226 occur with high frequency in Down syndrome (trisomy 21), the most common chromosome duplication in h

227 Here, we show that a genetic model of DS (trisomy 21), the segmental trisomy 16 mouse Ts65Dn, deve

228 g a threshold of at least 2 points to detect trisomy 21, the best ISS had a sensitivity of 45.3%, fal

229 romosome 13 and chromosome 21, indicative of trisomy 21; the remaining 57 samples were deemed to be n

230 er understand the functional contribution of trisomy 21 to leukemogenesis, we used mouse and human ce

231 Trisomy 21 (Ts21) affects craniofacial precursors in ind

232 Individuals with full or partial Trisomy 21 (Ts21) present with clinical features collect

233 be detected in fibroblasts from persons with Trisomy 21 two decades before the characteristic onset o

234 AVSD not associated with trisomy 21 usually occurs as a sporadic trait with no in

235 The AUC for trisomy 21 was 0.999 for cfDNA testing and 0.958 for sta

236 The likelihood ratio for trisomy 21 was 146 (95% CI 50-434) for absent nasal bone

237 For heterotrisomy, the SMR after an index trisomy 21 was 2.3 (90% CI 1.5-3.8, P=.0007); the SMR di

238 Risk of trisomy 21 was calculated from the maternal age and gest

239 Trisomy 21 was detected in 38 of 38 women (100%; 95% con

240 The risk of trisomy 21 was estimated for 96127 women of median age 3

241 However, similar to trisomy 15 and unlike trisomy 21, we observed a significant increase in the me

242 for age Z score, whereas age, ethnicity, and trisomy 21 were associated with body-mass index for age

243 After all cases with an index trisomy 21 were combined, the SMR for homotrisomy was 2.

244 Results of using AAURA to detect trisomy 21 were nearly identical, with a sensitivity of

245 presence of an extra maternal chromosome 21 (trisomy 21), which comprises the Kcnj6 gene (GIRK2).

246 schromosomic" mouse line, Tc1, is a model of trisomy 21, which manifests as Down syndrome (DS) in hum

247 Trisomy 21, which results in Down syndrome (DS), is the

248 is a very early pathological consequence of trisomy 21 with potential to disturb the development of

249 ning identified 89.8 percent of fetuses with trisomy 21, with a false positive rate of 15.2 percent,

250 s 3 and 5 significantly improved OS, whereas trisomy 21 worsened OS.