ライフサイエンスコーパス: Down syndrome

1 afflicts human female oocytes (e.g., giving Down syndrome).

2 ogical alterations found in individuals with Down syndrome.

3 deficits in the peripheral nervous system in Down syndrome.

4 stic neurological disorder in the context of Down syndrome.

5 e dentate gyrus of the Ts65Dn mouse model of Down syndrome.

6 research has tended to focus on dementia in Down syndrome.

7 ass-switch recombination in 17 children with Down syndrome.

8 espiratory tract infections of patients with Down syndrome.

9 xtual learning, in the Ts65Dn mouse model of Down syndrome.

10 ve diseases, including Alzheimer disease and Down syndrome.

11 d in tonsils from 4 additional children with Down syndrome.

12 and synaptic phenotypes in a mouse model of Down syndrome.

13 prove cognitive function in individuals with Down syndrome.

14 megakaryocytic abnormalities that accompany Down syndrome.

15 he abnormal neurological phenotypes found in Down syndrome.

16 t and development of Alzheimer's disease and Down syndrome.

17 ell-positive subjects was seen in those with Down syndrome.

18 ile range [IQR], 2.0-13.5) and 29 (8.5%) had Down syndrome.

19 and memory, reward, motor coordination, and Down syndrome.

20 e neonatal brains of Ts65Dn mice, a model of Down syndrome.

21 clinical features of dementia in people with Down syndrome.

22 ding pain, epilepsy, Parkinson's disease and Down syndrome.

23 ave a higher risk of fathering children with Down syndrome.

24 ual circuits is perturbed in mouse models of Down syndrome.

25 ute to visual impairment in individuals with Down syndrome.

26 etastasis, and mortality in individuals with Down syndrome.

27 n Ts65Dn mice, the most widely used model of Down syndrome.

28 Only 2 of 29 cases were Down syndrome.

29 evated interferon signaling is a hallmark of Down syndrome.

30 nd, as we show, for the Tc1 mouse models for Down syndrome.

31 mRNA levels within the human brain underlie Down Syndrome.

32 genesis of HSA21-related disorders including Down Syndrome.

33 s might be central to the pathophysiology of Down syndrome.

34 DYRK1Ais a major candidate gene in Down syndrome.

35 smal fitness, manifest in conditions such as Down syndrome.

36 y loss and several genetic disorders such as Down syndrome.

37 severe mental retardation in females, after Down syndrome.

38 on show an unfounded bias against those with Down syndrome.

39 n VI microfibrils, an outcome accentuated by Down syndrome.

40 ntribute to distinct cognitive phenotypes in Down syndrome.

41 ts with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrang

42 e megakaryoblastic leukemia in children with Down syndrome, a malignancy that is defined by the combi

43 aques of AD and in the preamyloid lesions of Down syndrome, a model system for early-onset AD study.

44 how developmental restriction is achieved in Down syndrome acute megakaryoblastic leukemia (DS-AMKL),

45 To define the mutation spectrum in non-Down syndrome acute megakaryoblastic leukemia (non-DS-AM

46 nsient myeloproliferative disorder (TMD) and Down syndrome-acute megakaryoblastic leukemia (DS-AMKL).

47 regulation, and has been linked to epilepsy, Down syndrome, addiction, and arrhythmias.

48 OR, 1.31; 95% CI, 1.17-1.47; P < 0.001), and Down syndrome (adjusted OR, 6.22; 95% CI, 2.08-18.66; P

49 s other than prematurity, heart disease, and Down syndrome affect the risk and severity of hospitaliz

50 oning in 63 adults (31 male, 32 female) with Down syndrome aged 30-53 years who did not exhibit sympt

51 identified in another subgroup of 31% of non-Down syndrome AMKL and strongly associated with a gene e

52 radius (TAR) syndrome, Down syndrome-TMD or Down syndrome-AMKL, and the delayed platelet engraftment

53 ulations of 40 children and adolescents with Down syndrome and 51 controls were quantified, and pheno

54 A child with Down syndrome and a history of adrenocortical carcinoma

55 r their potential therapeutic application to Down syndrome and Alzheimer's disease.

56 the Ts65Dn mouse, a trisomic mouse model of Down syndrome and Alzheimer's disease.

57 Changes in NCAM2 expression in Down syndrome and autistic patients may therefore contri

58 volving chromosome gains and losses, such as Down syndrome and cancer.

59 rget for Alzheimer's disease, especially for Down syndrome and EGCG which inhibits Dyrk1A may have po

60 s known to cause intellectual disability are Down syndrome and Fragile X syndrome.

61 and Olig2, two genes that are triplicated in Down syndrome and in Ts65Dn mice, were overexpressed in

62 rrent healthcare issues for adolescents with Down syndrome and intellectual disabilities, including b

63 with cognitive deficits in individuals with Down syndrome and may enable discovery of the underlying

64 trum disorder trait, nutritional deficiency, Down syndrome and Non-specific neurodevelopmental delay

65 teen children (aged 10 months-14 years) with Down syndrome and nystagmus, and a control group of 93 a

66 Using mouse models of Down syndrome and of genes associated with congenital he

67 nded karyotype ( approximately 3%, excluding Down syndrome and other recognizable chromosomal syndrom

68 es on patients having other disorders (e.g., Down syndrome and Parkinson's disease) and to brain PET

69 r disease and is associated with dementia in Down syndrome and poor neurological outcome after trauma

70 in understanding of other disorders such as Down syndrome and Rett syndrome, for example, are also r

71 g the molecular mechanisms of tumorigenesis, Down syndrome, and aging.

72 e significantly more likely to be male, have Down syndrome, and have higher MRD levels on day 19 and

73 sorders, including fragile X, Rett syndrome, Down syndrome, and neurofibromatosis type I suggest that

74 We find that translation of dyrk1a, a Down syndrome- and autism spectrum disorders-related gen

75 Children with Down syndrome are at high risk for developing B-cell pre

76 Our results confirm Down syndrome as a major risk factor for IRM.

77 The Down syndrome-associated DYRK1A kinase has been reported

78 Many advocates for people with Down syndrome believe that high abortion rates following

79 synaptic plasticity and a major candidate of Down syndrome brain alterations and cognitive deficits.

80 orted that Dyrk1A, which is overexpressed in Down syndrome brains, regulates alternative splicing of

81 n neoplasms are uncommon among patients with Down syndrome, but organ-specific autoimmune diseases ar

82 21 (HSA21) cause intellectual disability and Down Syndrome, but our understanding of the HSA21 geneti

83 Min) mutation into the Ts65Dn mouse model of Down syndrome by interbreeding caused formation of intes

84 lymphocyte subpopulations, individuals with Down syndrome can mount effector T-cell responses with s

85 Our findings indicate that many adults with Down syndrome can tolerate amyloid-beta deposition witho

86 ) in SMC phenotypic modulation and uncovered Down Syndrome Candidate Region 1 (DSCR1/RCAN1) as a nove

87 the up-regulation of a proangiogenic factor, Down syndrome candidate region 1 isoform 1L (DSCR1-1L),

88 Patients with Down syndrome carry immunologic defects, as evidenced by

89 Down syndrome cell adhesion molecule (DSCAM) has mainly

90 Down syndrome cell adhesion molecule (Dscam) is expresse

91 Increased expression of Down Syndrome Cell Adhesion Molecule (Dscam) is implicat

92 The Down syndrome cell adhesion molecule (DSCAM) is required

93 The Down Syndrome Cell Adhesion Molecule (DSCAM) is required

94 d use a gain-of-function mouse allele of the Down syndrome cell adhesion molecule (Dscam) to compleme

95 nce of deleted in colorectal cancer (DCC) or Down syndrome cell adhesion molecule (DSCAM), and expres

96 with and affects the axonal functions of the Down syndrome cell adhesion molecule (Dscam).

97 Neurons that lack Drosophila Down syndrome cell adhesion molecule 1 (Dscam1) show abe

98 recent genetic analysis of vertebrate DSCAM (Down Syndrome Cell Adhesion Molecule) genes has revealed

99 ur results mirror those reported for Dscam1 (Down syndrome cell adhesion molecule) in Drosophila: thi

100 We further identify Dscam (Down syndrome cell adhesion molecule), a gene within the

101 ertain cell types, in mice deficient for the Down syndrome cell adhesion molecule, Dscam, exhibiting

102 Down syndrome cell adhesion molecule, Dscam, serves dive

103 Down syndrome cell adhesion molecule, or DSCAM, has been

104 The Down syndrome cell-adhesion molecule (Dscam) confines th

105 Expression of the Down syndrome cell-adhesion molecule (Dscam) is increase

106 /intellectual disability/mental retardation, Down syndrome, cerebral palsy, autism spectrum disorder)

107 fold reduction in the probability to have a Down syndrome child between a 20 and 30 years old Down s

108 Patients were non-Down syndrome children enrolled on Children's Oncology G

109 Down syndrome confers a 20-fold increased risk of B cell

110 ding gene at the centromeric boundary of the Down Syndrome Critical Region (DSCR) of HSA21.

111 examines the functional interactions between Down syndrome critical region 1 (DSCR1) and amyloid-prec

112 This study examines Nebula/Down syndrome critical region 1 (DSCR1) and amyloid-prec

113 . demonstrate that the calcineurin regulator Down syndrome critical region 1 protein modulates both b

114 us introns from the human beta-globin, mouse Down syndrome critical region 1, or hagfish coagulation

115 PEP-19/PCP4 maps within the Down syndrome critical region and encodes a small, predo

116 rectifying potassium channel and maps to the Down syndrome critical region between DIRK1A and DSCR4.

117 based experiments suggest that the so-called Down syndrome critical region of human chromosome 21 is

118 ee of refinement scales with defects in the "Down syndrome critical region" (DSCR) in a dose-dependen

119 r mouse model is trisomic for 33 genes (the "Down syndrome critical region" or DSCR) hypothesized to

120 ded RUNX1, miR-802, and genes mapping to the Down syndrome critical region.

121 Here, we show that Down syndrome critical region1 (DSCR1) interacts with Fr

122 on-regulated kinase 1 A (DYRK1A) maps to the Down syndrome critical region; copy number increase of t

123 s in the transchromosomic Tc1 mouse model of Down syndrome, demonstrating that ultrastructural abnorm

124 Children with Down syndrome develop a unique congenital clonal megakar

125 tion to mental retardation, individuals with Down syndrome (DS) also develop the neuropathological ch

126 Children with Down syndrome (DS) and acute lymphoblastic leukaemia (AL

127 ipper motif) mediates rab5 overactivation in Down syndrome (DS) and AD, which is caused by elevated l

128 ical correlates of genetic disorders such as Down syndrome (DS) and autism spectrum disorders (ASDs).

129 Children with Down syndrome (DS) and cerebral palsy (CP) often have re

130 the pathogenesis of brain disorders such as Down syndrome (DS) and fragile X syndrome (FXS).

131 Humans with Down syndrome (DS) and Ts65Dn mice both show a reduced v

132 Intellectual disability in Down syndrome (DS) appears to be related to severe proli

133 Children with trisomy 21/Down syndrome (DS) are at high risk to develop acute meg

134 Children with Down syndrome (DS) are at increased risk for acute myelo

135 Some neonates with Down syndrome (DS) are diagnosed with self-regressing tr

136 e neuronal loss in the developing and mature Down syndrome (DS) brain.

137 At the neuronal level of Down syndrome (DS) brains, there are evidences of altere

138 Down syndrome (DS) children have a unique genetic suscep

139 Dyrk1a localizes in the Down syndrome (DS) critical region of chromosome 21q22.2

140 About half of people with Down syndrome (DS) exhibit some form of congenital heart

141 Individuals with Down syndrome (DS) have a higher prevalence and severity

142 Children with Down syndrome (DS) have a markedly increased risk of dev

143 Children with Down syndrome (DS) have an increased risk of acute lymph

144 Children with Down syndrome (DS) have an increased risk of B-cell prec

145 Aging individuals with Down syndrome (DS) have an increased risk of developing

146 eta precursor protein gene on chromosome 21, Down syndrome (DS) individuals develop high levels of Ab

147 Most Down syndrome (DS) individuals eventually develop Alzhei

148 About 10% of Down syndrome (DS) infants are born with a transient mye

149 Down syndrome (DS) is a developmental disorder caused by

150 Down syndrome (DS) is a multi-faceted condition resultin

151 Down syndrome (DS) is a relatively common genetic condit

152 Down syndrome (DS) is associated with neurological compl

153 Down syndrome (DS) is associated with ocular abnormaliti

154 Down syndrome (DS) is caused by a triplication of chromo

155 Down syndrome (DS) is caused by the presence of an extra

156 Down syndrome (DS) is caused by the triplication of huma

157 Down syndrome (DS) is caused by trisomy of chromosome 21

158 AMKL in children with Down syndrome (DS) is characterized by a founding GATA1

159 Cognitive impairment in Down syndrome (DS) is characterized by deficient learnin

160 Down syndrome (DS) is characterized by intellectual disa

161 The Ts65Dn (Ts) mouse model of Down syndrome (DS) is exquisitely sensitive to an infant

162 Tc1 mouse model of Down syndrome (DS) is functionally trisomic for approxim

163 Down syndrome (DS) is the most common cause of cognitive

164 Down syndrome (DS) is the most common example of a neuro

165 Down syndrome (DS) is the most common genetic aberration

166 Down syndrome (DS) is the most prevalent cause of intell

167 EADDs to stimulate degenerating neurons in a Down syndrome (DS) model, Ts65Dn mice.

168 We show here that axonal GCs of human fetal Down syndrome (DS) neurons (and of a DS mouse model) ove

169 s much of the aberrant neural development in Down syndrome (DS) occurs postnatally, an early opportun

170 (n = 135) elucidated the natural history in Down syndrome (DS) patients diagnosed with TMD via the u

171 Down syndrome (DS) patients exhibit abnormalities of hip

172 ukemia (AMKL) is more frequently observed in Down syndrome (DS) patients, in whom it is often precede

173 gene is located on trisomic chromosome 21 in Down syndrome (DS) patients, leading to its overexpressi

174 Studies in humans with Down syndrome (DS) show that alterations in fetal brain

175 1, which is a phenotype long associated with Down syndrome (DS) that can also cause familial Alzheime

176 Children with Down syndrome (DS) up to the age of 4 years are at a 150

177 my of human chromosome 21 (Hsa21) results in Down syndrome (DS), a disorder that affects many aspects

178 linical features collectively referred to as Down syndrome (DS), although DS phenotypes vary in incid

179 the most commonly occurring heart defects in Down syndrome (DS), and approximately 65% of all AVSD is

180 ses skeletal alterations in individuals with Down syndrome (DS), but the causative trisomic gene and

181 Trisomy 21 (T21) causes Down syndrome (DS), but the mechanisms by which T21 prod

182 Trisomy 21 causes Down syndrome (DS), but the mechanisms by which the extr

183 Down syndrome (DS), caused by trisomy 21, is the most co

184 Down syndrome (DS), caused by trisomy 21, is the most co

185 Down syndrome (DS), caused by trisomy of chromosome 21,

186 Down syndrome (DS), caused by trisomy of human chromosom

187 As the genomic basis for Down syndrome (DS), human trisomy 21 is the most common

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

189 preleukemic disorder unique to neonates with Down syndrome (DS), may transform to childhood acute mye

190 Down syndrome (DS), or trisomy 21, is a common disorder

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

192 Down syndrome (DS), or trisomy of chromosome 21, is the

193 Down syndrome (DS), trisomy 21, is a multifaceted condit

194 One exception is Down syndrome (DS), where a third copy of chromosome 21

195 cell diversity in the Ts65Dn mouse model of Down syndrome (DS), which exhibits reduced neurogenesis

196 People with Down syndrome (DS), who are trisomic for Hsa21, are pred

197 The prevalence of Down syndrome (DS)-affected births has increased during

198 disability are Fragile X syndrome (FXS) and Down syndrome (DS).

199 ults in the complex clinical presentation of Down syndrome (DS).

200 ppocampus in Ts65Dn mice, a model system for Down syndrome (DS).

201 y for human chromosome 21 (Hsa21) results in Down syndrome (DS).

202 and produce congenital abnormalities such as Down syndrome (DS).

203 that cause intellectual disability, such as Down syndrome (DS).

204 st complete widely available animal model of Down syndrome (DS).

205 ed in the neonatal leukemia of children with Down syndrome (DS).

206 ain abnormalities begin during fetal life in Down syndrome (DS).

207 craniofacial precursors in individuals with Down syndrome (DS).

208 course of both Alzheimer's disease (AD) and Down syndrome (DS); however, it is not clear how dysfunc

209 te lymphoblastic leukemia (B-ALL), including Down syndrome (DS-ALL) patients, lacking recurring chrom

210 cute megakaryocytic leukemia associated with Down syndrome (DS-AMKL), where they occur in over half o

211 Individuals with Down syndrome (DS; also known as trisomy 21) have a mark

212 DP-17), the early onset dementia observed in Down syndrome (DS; trisomy 21) and the dementia componen

213 gic results tend to suggest that adults with Down syndrome have a reduced incidence of cancer, but so

214 date, investigations of neural anomalies in Down syndrome have focused on the central nervous system

215 males, using data from mouse models and from Down syndrome humans.

216 lcineurin phosphatase that is triplicated in Down syndrome, impairs neurotrophic support of sympathet

217 gakaryocyte-erythroid and B-cell leukemia in Down syndrome implicates trisomy 21 (T21) in perturbing

218 has been associated with the development of Down syndrome in both human and animal models, whereas s

219 More than half of infants and children with Down syndrome in Cairo had ophthalmic abnormalities; myo

220 Ocular and systemic manifestations of Down syndrome in infants and children in Cairo, and comp

221 Down syndrome incidence in humans increases dramatically

222 We analyzed two cohorts of live-born Down syndrome individuals (388 genotyped samples and 16

223 nt AD linked to PSEN1 mutations, in demented Down syndrome individuals and in sporadic AD subjects co

224 Down syndrome is associated with a markedly increased ri

225 Down syndrome is associated with significant failure in

226 of the basis for intellectual impairment in Down syndrome is hindered by the large number of genes d

227 Down syndrome is more common in the highly consanguineou

228 Down syndrome is the most common chromosomal disorder af

229 e 21 (Hsa21) transchromosomic mouse model of Down syndrome is trisomic for many Hsa21 genes including

230 reased DYRK1A gene dosage, such as occurs in Down syndrome, is known to affect neural progenitor cell

231 e implicated in autism spectrum disorder and Down syndrome, is required presynaptically for normal sy

232 ator of FMRP and that Fragile X syndrome and Down syndrome may share disturbances in common pathways

233 Genetically correcting RCAN1 levels in Down syndrome mice markedly improves NGF-dependent recep

234 ppocampal physiology and behavior in Ts65Dn (Down syndrome) mice.

235 le therapeutic target in myeloid leukemia of Down syndrome (ML-DS) and chronic myeloid leukemia (CML)

236 Patients with myeloid leukemia of Down syndrome (ML-DS) have favorable event-free survival

237 ildren with myeloid leukemia associated with Down syndrome (ML-DS) have superior outcome compared wit

238 s in visual and olfactory sensory systems in Down syndrome model mice, which provide insight into def

239 In slices from Ts65Dn mice, a Down syndrome model with excess inhibition and cognitive

240 es, generating euploid iPSCs from cells of a Down syndrome mouse model.

241 d cell death and other disorders observed in Down syndrome mouse models and human patients, in which

242 comprehensive screening of a large cohort of Down syndrome neonates for the transient abnormal myelop

243 AMKL in individuals without Down syndrome (non-DS-AMKL) is frequently associated wit

244 ors also contribute to visual acuity loss in Down syndrome, nystagmus alone could account for most of

245 Live-born CHD associated with Down syndrome occurred in 0.5 per 1000 births, with > 4-

246 that were used for this study, and in human Down syndrome, older females have significantly lower pr

247 ted on chromosome 21 and is overexpressed in Down syndrome, one of the most prevalent genomic disorde

248 aired learning and memory processes, such as Down syndrome or Alzheimer's disease.

249 tal loss of sympathetic innervation in human Down syndrome organs and in a mouse model.

250 s, although they could be the primary AD and Down syndrome pathological agents.

251 tas and provide a unique mechanism of AD and Down syndrome pathologies.

252 had CRLF2-d, but it was more prevalent among Down syndrome patients (54%).

253 Significantly, trisomy 21/Down syndrome patients develop early onset AD pathology.

254 ortant Hedgehog (Hh) pathway, but cells from Down syndrome patients paradoxically display reduced Hh

255 es and cerebral amyloid angiopathy of AD and Down syndrome patients, colocalizing with general Abeta

256 global learning and cognitive impairment in Down syndrome patients.

257 of genetic background for the expression of Down syndrome phenotype.

258 nase implicated in the mental retardation of Down syndrome, phosphorylates primarily serine 857 (S857

259 POPULATION OR SAMPLE: 532 Down syndrome pregnancies and 1,155 matched unaffected p

260 A 15-year-old girl with features of Down syndrome presented to the Clinic of Ophthalmology f

261 gical evidence in support of the notion that Down syndrome reduces incidence of multiple types of can

262 f the disease occurring in children (such as Down syndrome related AML), as well as new therapeutic a

263 In our patient, Down syndrome-related impaired T regulatory lymphocyte f

264 study how immunodeficiency in patients with Down syndrome results from immunologic defects in the B-

265 ng conditions including Alzheimer's disease, Down syndrome, schizophrenia, and mood disorders.

266 We used clinical data sets (United Kingdom Down syndrome screening data from Glasgow (1991-2003), E

267 Children with Down syndrome seem capable of normal germinal center and

268 Nearly all adults with Down syndrome show neuropathology of Alzheimer's disease

269 f memantine and antioxidants for dementia in Down syndrome showed that these treatment options were i

270 nd autoimmune disorders are more frequent in Down syndrome, suggesting abnormality of adaptive immuni

271 icate that the genetic complexity underlying Down syndrome supports multiple mechanisms that contribu

272 rsons with intellectual disabilities without Down syndrome than in the general population.

273 er median PlGF was 15%, 28% and 39% lower in Down syndrome than unaffected pregnancies at 11, 12 and

274 In the two types of mice models for Down syndrome that were used for this study, and in huma

275 Although it is clear that trisomy 21 causes Down syndrome, the molecular events acting downstream of

276 Down syndrome, the most prevalent cause of mental retard

277 Even in the case of Down syndrome, the most viable and studied form of human

278 rombocytopenia-absent radius (TAR) syndrome, Down syndrome-TMD or Down syndrome-AMKL, and the delayed

279 evant to the predisposition of patients with Down syndrome to HSCR.

280 es women who receive a prenatal diagnosis of Down syndrome to receive positive information about the

281 In guiding adolescents with Down syndrome towards healthy productive adult lives, cl

282 to thrombocytopenia, and the pathogenesis of Down syndrome-transient myeloproliferative disorder (TMD

283 fetal/neonatal MK progenitors, including the Down syndrome-transient myeloproliferative disorder and

284 Down syndrome (trisomy 21) is the most common genetic ca

285 urin-NFAT, candidates in the pathogenesis of Down syndrome (trisomy 21)-associated transient myelopro

286 or increased HSCR incidence in children with Down syndrome (trisomy 21).

287 Patients with Down syndrome (trisomy 21, T21) have hematologic abnorma

288 disorders, such as Parkinson's, autism, and Down syndrome, understanding mechanisms modulating Synap

289 e the performance of antenatal screening for Down syndrome using the Combined, serum Integrated and I

290 pseudotumor cerebri syndrome group included Down syndrome, vitamin A derivatives, and growth hormone

291 Down syndrome was the most significant risk factor for I

292 Importantly, patients with Down syndrome were at significantly higher risk for IRM

293 Twenty-two of the adults with Down syndrome were identified as having elevated neocort

294 s were significantly higher in subjects with Down syndrome, whereas their inhibitory receptor express

295 nificant differences between the adults with Down syndrome who had elevated neocortical Pittsburgh co

296 Moreover, our sample included adults with Down syndrome who were most 'resistant' to the effects o

297 que because it is the first reported case of Down syndrome with morning glory optic disc anomaly in l

298 syndrome child between a 20 and 30 years old Down syndrome woman.

299 analysis of previously reported 30 births in Down syndrome women shows a similar tendency with an alm

300 ely to contribute to cognitive disability in Down syndrome, yet the neural network basis of this path