ライフサイエンスコーパス: Down's syndrome

1 lls and is known to change phenotypes (e.g., Down's syndrome).

2 of solid tumours in people with trisomy 21 (Down's syndrome).

3 in conditions of delayed maturation such as Down's syndrome.

4 rected serine/threonine kinase implicated in Down's syndrome.

5 congenital heart disease in individuals with Down's syndrome.

6 unique self-regressing neoplasia specific to Down's syndrome.

7 of choice in second trimester screening for Down's syndrome.

8 ancer drug therapy use of a gene involved in Down's syndrome.

9 ta support an association between parity and Down's syndrome.

10 orted in acute megakaryoblastic leukaemia in Down's syndrome.

11 ed in the mental retardation associated with Down's syndrome.

12 en demonstrated recently for both autism and Down's syndrome.

13 imer's disease and cerebellar pre-amyloid in Down's syndrome.

14 1.4-1.8) than were those that did not report Down's syndrome.

15 rther improvement in survival of people with Down's syndrome.

16 nd some of the neurological deficits seen in Down's syndrome.

17 for common medical disorders in people with Down's syndrome.

18 suggests candidates for the pathogenesis of Down's syndrome.

19 ple of other races than in white people with Down's syndrome.

20 g gametes and major birth defects, including Down's syndrome.

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

22 complex pathophysiological abnormalities in Down's syndrome.

23 reasons for paucity of cancer in people with Down's syndrome.

24 cognitive decline in Alzheimer's disease and Down's syndrome.

25 elopmental deficits seen in individuals with Down's syndrome.

26 c abnormalities and the cognitive profile of Down's syndrome.

27 ed from patients with Alzheimer's disease or Down's syndrome.

28 the learning deficits seen in children with Down's syndrome.

29 ogenesis of many of the clinical features of Down's syndrome.

30 a prominent component early in the course of Down's syndrome.

31 r, dominant optic atrophy, osteoporosis, and Down's syndrome.

32 tages of Alzheimer's disease associated with Down's syndrome.

33 sm probands and 30 families of probands with Down's syndrome.

34 Altogether, there were 61 fetuses with Down's syndrome.

35 ome 21 markers for the prenatal diagnosis of Down's syndrome.

36 healthy, nondemented adults with trisomy 21 Down's syndrome.

37 omic substrate for language, are abnormal in Down's syndrome.

38 ases, including Alzheimer's disease (AD) and Down's syndrome.

39 iated with increased severity of symptoms in Down's syndrome.

40 shing Alzheimer's disease clinical stages in Down's syndrome.

41 trols, cases of frontotemporal dementia, and Down's syndrome.

42 dementia in people older than 40 years with Down's syndrome.

43 n cognition and function in individuals with Down's syndrome.

44 nsequently, congenital birth defects such as Down's syndrome.

45 Alzheimer's disease is common in adults with Down's syndrome.

46 impact cognitive functioning in people with Down's syndrome.

47 s of individuals with Alzheimer's disease or Down's syndrome.

48 n's syndrome tissues and in a mouse model of Down's syndrome.

49 y loss and several genetic disorders such as Down's syndrome.

50 mosome segregation causes conditions such as Down's syndrome.

51 d NFATc activity and many of the features of Down's syndrome.

52 cute lymphoblastic leukemia in children with Down's syndrome.

53 s is the leading cause of pregnancy loss and Down's syndrome.

54 ncrease the penetrance of type 1 diabetes in Down's syndrome.

55 osage produces the pleiotropic phenotypes of Down's syndrome.

56 h maternal age, leading to disorders such as Down's syndrome.

57 with early stages of Alzheimer's disease and Down's syndrome.

58 med in 38,167 patients; 117 had a fetus with Down's syndrome.

59 rofibrillary tangles, Alzheimer disease, and Down's syndrome.

60 hazard ratios were highest for patients with Down's syndrome (12.7-fold increase), kidney transplanta

61 ed sex 22%), neurofibromatosis type 1 (18%), Down's syndrome (16%), Noonan's syndrome (15%), Williams

62 k of both types of leukemia in children with Down's syndrome (22 cases and no controls).

63 HLA class II genotypes in 222 children with Down's syndrome, 40 children with Down's syndrome and ty

64 ased sample of 163 postmenopausal women with Down's syndrome, 40 to 60 years of age, was ascertained

65 g identified 85.2 percent of the 61 cases of Down's syndrome (95 percent confidence interval, 73.8 to

66 APP is overexpressed in Down's syndrome, a condition that occasionally leads to

67 The subjects were 34 nondemented Down's syndrome adults (mean age=41.6 years, 17 women an

68 lts do not depend on maternal age or risk of Down's syndrome-affected birth.

69 Sixteen children and young adults with Down's syndrome (age range=5-23 years) were matched for

70 lso have importance for our understanding of Down's syndrome, Alzheimer's disease, and other human pa

71 concentrations in 19 nondemented adults with Down's syndrome and 17 age- and sex-matched healthy comp

72 rale for 17 community-dwelling patients with Down's syndrome and 17 matched healthy comparison subjec

73 A total of 48 pregnancies affected by Down's syndrome and 3169 unaffected pregnancies were ide

74 A total of 898 cases of Down's syndrome and 4,488 controls were identified using

75 with plaques from tissues of subjects having Down's syndrome and a prion disease.

76 Mothers of 158 children with Down's syndrome and acute leukemia (97 acute lymphoblast

77 pect to overall patterns of brain volumes in Down's syndrome and also provide new evidence for abnorm

78 Another feature common to both Down's syndrome and Alzheimer's disease is neuroinflamma

79 anges may prove useful as an animal model of Down's syndrome and Alzheimer's disease.

80 amyloidosis associated with neuronal loss in Down's syndrome and Alzheimer's disease.

81 ervention to restore APP axonal transport in Down's syndrome and Alzheimer's disease.SIGNIFICANCE STA

82 For both waves, Down's syndrome and cerebral palsy were associated with

83 People with Down's syndrome and cerebral palsy were identified (whet

84 ive functioning, particularly in people with Down's syndrome and comorbid disorders such as autism.

85 modeling were overexpressed in patients with Down's syndrome and congenital heart defects.

86 euronal stem cells and progenitor cells from Down's syndrome and control post-mortem human fetal tiss

87 e self-renewal and/or senescence pathways in Down's syndrome and could serve as an attractive target

88 nvestigate changes in GATA1 in patients with Down's syndrome and either transient myeloid disorder (n

89 Dyrk1a-overexpressing mice, mouse models of Down's syndrome and human trisomy 21 are consistent with

90 echanism for the reduced cancer incidence in Down's syndrome and identify the calcineurin signalling

91 Dyrk1a triplication in Down's syndrome and its overexpression in Alzheimer's di

92 of islet autoantibodies in 106 children with Down's syndrome and no history of autoimmunity and analy

93 e transcriptome of the Ts65Dn mouse model of Down's syndrome and normal littermate mouse fibroblasts

94 We used mouse models of Down's syndrome and of cancer in a biological approach t

95 Dyrk1a kinase is triplicated in Down's syndrome and overexpressed in Alzheimer's disease

96 ated HLA class II genotypes in children with Down's syndrome and type 1 diabetes compared with age- a

97 ldren with Down's syndrome, 40 children with Down's syndrome and type 1 diabetes, 120 age- and sex-ma

98 metimes observed in humans (e.g. trisomy 21; Down's syndrome), and it arises more frequently in some

99 agreement with the pattern reported for AD, Down's syndrome, and aged dogs.

100 ells derived from the cortex of a fetus with Down's syndrome, and findings were compared with those o

101 Genes on chromosome 21 were overexpressed in Down's syndrome, and genes controlling cell cycle and pr

102 is significantly reduced in individuals with Down's syndrome, and it is thought that this broad cance

103 th Parkinson's disease, Alzheimer's disease, Down's syndrome, and multiple system atrophy.

104 linked to premature coronary artery disease, Down's syndrome, and neural tube defects.

105 antly detected in neurons in brains from AD, Down's syndrome, and nondemented humans.

106 d deposition of beta-amyloid (A beta) in AD, Down's syndrome, and normal aging.

107 ims to find methods to identify fetuses with Down's syndrome, and reduce or eliminate the need for am

108 bclinical islet autoimmunity is increased in Down's syndrome, and susceptibility to type 1 diabetes i

109 are affected early in Alzheimer's disease in Down's syndrome, and their evaluation may help identify

110 imer disease-type pathology in patients with Down's syndrome are unclear.

111 etuses as normal and 30 as having trisomy 21 Down's syndrome (as confirmed by cytogenetic analysis).

112 A Down's syndrome associated gene, Single Minded 2 gene sh

113 low SMOR for malignancy was associated with Down's syndrome at all ages, in both sexes, and for all

114 tic factors (sex, dementia, age group, total Down's syndrome attention, memory, and executive functio

115 ing Alzheimer's disease, fragile X syndrome, Down's syndrome, autism, epilepsy and Parkinson's diseas

116 ogy in sporadic Alzheimer's disease (AD) and Down's syndrome brain.

117 enhancer binding protein beta (C/EBPbeta) in Down's syndrome brains and identify C/EBPbeta as a trans

118 hic neurites in 50% of amygdala samples from Down's syndrome brains with Alzheimer's disease.

119 Immunohistochemical examination of 20 Down's syndrome brains, using antibodies to alpha-, beta

120 frequently occur with Alzheimer's disease in Down's syndrome brains.

121 ctober 2002 and mothers of 173 children with Down's syndrome but without leukemia were interviewed by

122 Trisomy 21 results in Down's syndrome, but little is known about how a 1.5-fol

123 pecific autoimmune diseases in children with Down's syndrome, but the immunogenetic characteristics o

124 d abnormalities of regional brain volumes in Down's syndrome by using high-resolution magnetic resona

125 ation and, perhaps, a 'protective' effect of Down's syndrome can now be added.

126 e human CBP1 homolog DSCR1 is encoded by the Down's syndrome candidate region interval on chromosome

127 One such gene is Down's syndrome candidate region-1 (DSCR1, also known as

128 Down's syndrome causes overexpression of miR-155, a chro

129 We found that Down's syndrome Cell Adhesion Molecule (Dscam) is requir

130 Here, we report that the Down's syndrome Cell Adhesion Molecule (DSCAM), a candid

131 e adhesion molecules-Sidekick-1, Sidekick-2, Down's syndrome cell adhesion molecule (Dscam), and Dsca

132 ective loss of neurons in the differentiated Down's syndrome cell preparations.

133 ication or higher likelihood of apoptosis in Down's syndrome cells, could be possible reasons for pau

134 al progression in genetic forms of AD (e.g., Down's syndrome), changes in hippocampal volume, AD risk

135 Down's syndrome children with type 1 diabetes were, howe

136 served in 6 of 106 nondiabetic children with Down's syndrome compared with 13 of 2,860 healthy age-ma

137 soprostane in urine samples of subjects with Down's syndrome compared with those of matched controls,

138 ncrease in the circulating levels; mimicking Down's syndrome condition) is 3-fold slower than the tum

139 y predicted Single Minded 2 gene (SIM2) from Down's syndrome critical region to be specific to certai

140 r Alzheimer's disease and is associated with Down's syndrome dementia and poor neurological outcome a

141 All subjects over age 50 who had Down's syndrome demonstrated volume reduction in the hip

142 Individuals with Down's syndrome develop Alzheimer's-like pathologies com

143 Early-onset dementia in adults with Down's syndrome does not seem to be associated with athe

144 Using Down's syndrome (DS) brains as a temporal model for the

145 Children with Down's syndrome (DS) have 20-50-fold higher incidence of

146 Subjects affected by Down's syndrome (DS) have an increased APP gene dosage a

147 Down's syndrome (DS) is a genetic disorder caused by ful

148 Down's syndrome (DS) is characterized by mental retardat

149 Down's syndrome (DS) is the most common cause of mental

150 Most Down's syndrome (DS) patients develop Alzheimer's diseas

151 Down's syndrome (DS) patients show accelerated Alzheimer

152 me from 32 subjects including AD and elderly Down's syndrome (DS) patients, age-matched normal contro

153 e most common phenotypic abnormality seen in Down's syndrome (DS) patients, yet the underlying mechan

154 Down's syndrome (DS) presents with a constellation of ca

155 1 and is thus a candidate for involvement in Down's syndrome (DS), a complex disorder resulting from

156 /CBFA2T3 in the development of pediatric non-Down's syndrome (DS), acute megakaryoblastic leukemia (A

157 Down's syndrome (DS), caused by trisomy of human chromos

158 and patients with Alzheimer's disease (AD), Down's syndrome (DS), cholestatic liver disease (CLD) an

159 Trisomy 21, or Down's syndrome (DS), is the most common genetic cause o

160 f brain aging, Alzheimer's disease (AD), and Down's syndrome (DS).

161 the region which is considered obligate for Down's syndrome (DS).

162 notype on risk of dementia in 82 adults with Down's syndrome (DS).

163 gical change in Alzheimer's disease (AD) and Down's syndrome (DS).

164 dysfunction in Alzheimer's disease (AD) and Down's syndrome (DS).

165 The subjects were 25 adults with Down's syndrome (eight with dementia) and 25 cognitively

166 evated in frontotemporal dementia but not in Down's syndrome, even in patients with substantial Abeta

167 e partial trisomy 16 (Ts65Dn) mouse model of Down's syndrome exhibited reductions in BFCN size and nu

168 Women with Down's syndrome experience early onset of both menopause

169 igher myoinositol level in older adults with Down's syndrome extends to the predementia phase earlier

170 rosphere preparations from three independent Down's syndrome fetuses and five independent controls by

171 rtially rescues the proliferation defects of Down's syndrome fibroblasts.

172 eeks of gestation; the rates of detection of Down's syndrome for the five serum markers were as follo

173 ntrigued by a possible association between a Down's syndrome gene and solid tumors, we monitored SIM2

174 Within the Down's syndrome group, older subjects (42-62 years, N =

175 old-young difference was not greater in the Down's syndrome group.

176 iovisual stimulation the older subjects with Down's syndrome had significantly lower glucose metaboli

177 nt with prior imaging studies, subjects with Down's syndrome had smaller overall brain volumes, with

178 at have examined parity as a risk factor for Down's syndrome has been hindered by inadequate control

179 general pediatric population, children with Down's syndrome have a much higher risk of acute leukemi

180 nts in medical interventions for people with Down's syndrome have led to a substantial increase in th

181 immunogenetic characteristics of diabetes in Down's syndrome have not been investigated.

182 ments in quality of life of individuals with Down's syndrome have resulted from improvements in medic

183 an event that occurs in Alzheimer's disease, Down's syndrome, head injury, and normal aging.

184 ng of chromosome 21 and the use of models of Down's syndrome in mice have allowed us to relate genes

185 Screening for Down's syndrome in the first trimester is feasible, with

186 Down's syndrome is a common disorder with enormous medic

187 Down's syndrome is associated with structural brain abno

188 The cognitive phenotype in Down's syndrome is characterised by impairments in morph

189 Down's syndrome is characterized by the genetically prog

190 out mortality and comorbidity in people with Down's syndrome is limited.

191 g of maternal serum to identify fetuses with Down's syndrome is now routinely offered during the seco

192 me, and susceptibility to type 1 diabetes in Down's syndrome is partially HLA mediated.

193 Prenatal screening for Down's syndrome is performed using biochemical and ultra

194 Down's syndrome is the most common genetic cause of lear

195 Down's syndrome is the most frequently identified cause

196 alence of Alzheimer's disease in people with Down's syndrome is very high, and many such individuals

197 Second trimester screening for Down's syndrome is widely practised throughout the world

198 cated in the mental retardation phenotype of Down's syndrome, is expressed on spinal commissural axon

199 postmortem brain sections of a patient with Down's syndrome known to contain primarily Abeta(1-42) a

200 An extra portion of chromosome 21 in Down's syndrome leads to a dementia in later life that i

201 listed on death certificates of people with Down's syndrome less than one-tenth as often as expected

202 and acute myeloid leukemia in children with Down's syndrome living in the United States or Canada.

203 Of 17897 people reported to have Down's syndrome, median age at death increased from 25 y

204 Upregulating SNX27 in the hippocampus of Down's syndrome mice rescues synaptic and cognitive defi

205 ecommended that new screening programmes for Down's syndrome need not include karyotyping and can off

206 For the subjects with Down's syndrome, neither superior temporal gyrus nor pla

207 high risk of giving birth to an infant with Down's syndrome or another chromosomal abnormality.

208 ion establishes a new molecular mechanism of Down's syndrome pathogenesis.

209 volume of the superior temporal gyrus in the Down's syndrome patients was proportionally similar to t

210 further understanding of the cancer risk of Down's syndrome patients.

211 reas of Alzheimer's disease (AD) tissues and Down's syndrome patients.

212 brains of both Alzheimer's disease (AD) and Down's syndrome patients.

213 In Down's syndrome, planum temporale volume may be selectiv

214 kinase mutated in autism and up-regulated in Down's syndrome, plays a novel role in suppressing ADBE.

215 e into the DYRK1A locus on chromosome 21, in Down's syndrome pluripotent stem cells.

216 Of 88 observed Down's syndrome pregnancies, 71 (81%) had a positive scr

217 er and social phobia than the parents of the Down's syndrome probands.

218 m patients with familial and sporadic AD and Down's syndrome recapitulate human disease phenotypes su

219 A pathological cascade in both AD- and Down's syndrome-related memory loss could be triggered b

220 ely small for brain size in individuals with Down's syndrome, remains fairly constant through the fif

221 -onset Alzheimer's disease, individuals with Down's syndrome respond differently to treatment, and a

222 Down's syndrome results from full or partial trisomy of

223 r factor REST-was almost undetectable in the Down's syndrome sample.

224 ced maternal age (46.6%), abnormal result on Down's syndrome screening (18.8%), structural anomalies

225 Older nondemented adults with Down's syndrome show normal rates of regional cerebral g

226 In the predementia phase of Down's syndrome, significant volume changes in medial te

227 For Down's syndrome, smaller volumes of the right and left a

228 on of several key developmental genes in the Down's syndrome stem-cell and progenitor-cell pool corre

229 ippocampus or amygdala among the nondemented Down's syndrome subjects and the comparison subjects; ag

230 Nineteen of the Down's syndrome subjects had follow-up scans (interscan

231 Nondemented Down's syndrome subjects had significantly smaller volum

232 nd the amygdala were smaller in the demented Down's syndrome subjects than in their comparison subjec

233 amygdala, but not the hippocampus, among the Down's syndrome subjects with dementia.

234 s and whether volume reduction is greater in Down's syndrome subjects with dementia.

235 in pattern of brain asymmetry were noted in Down's syndrome subjects.

236 zheimer's disease patients and all 6 elderly Down's syndrome subjects.

237 ximately 50% higher level of myo-inositol in Down's syndrome suggests a gene dose effect of the extra

238 so been found in the brains of patients with Down's syndrome, supranuclear palsy, and prion disease.

239 disproportionately smaller in subjects with Down's syndrome than in normal comparison subjects and w

240 ital and parietal regions of the adults with Down's syndrome than in the comparison subjects.

241 ple test is a better method of screening for Down's syndrome than use of maternal age alone (51% dete

242 been developed to provide an animal model of Down's syndrome that exhibits progressive loss of BFCNs

243 For the subjects with Down's syndrome, the correlations of the superior tempor

244 Trisomy 21 is associated with Down's syndrome, the most common genetic cause of mental

245 Down's syndrome, the most common genetic cause of mental

246 Errors in segregation lead to Down's syndrome, the most frequent inherited birth defec

247 Down's syndrome therefore represents a model for studyin

248 Here we show that DSCR1 is increased in Down's syndrome tissues and in a mouse model of Down's s

249 ated with increased hazards for both events; Down's syndrome to a greater extent.

250 stage of Alzheimer's disease in adults with Down's syndrome to investigate whether atrophy of medial

251 een pregnant women for the presence of fetal Down's syndrome: to perform first-trimester screening, t

252 In Down's syndrome (trisomy 21), a dementia syndrome occurs

253 to amyloid precursor protein mutations, and Down's syndrome (trisomy 21).

254 temporal lobe white matter in subjects with Down's syndrome versus comparison subjects.

255 planum temporale volume of the patients with Down's syndrome was smaller than that of the healthy sub

256 efective oxidative defense may contribute to Down's syndrome, we studied the regulation of the metall

257 lse positive rate, the rates of detection of Down's syndrome were as follows: with first-trimester co

258 sis complex 2, neurofibromatosis type 1, and Down's syndrome were compared with a group of healthy co

259 cted, death certificates with a diagnosis of Down's syndrome were more likely to list congenital hear

260 The numbers of infants with Down's syndrome were two (0.5%) of 400, and four (0.7%)

261 riginal 649 patients, 189, including 21 with Down's syndrome, were nonrandomly assigned to receive in

262 s 13, 18, and 21 after a positive screen for Down's syndrome will result in substantial numbers of li

263 luding sporadic Alzheimer's disease (AD) and Down's syndrome with AD.

264 clinical interest include the association of Down's syndrome with coeliac disease and Alzheimer's dis

265 There was a trend towards increasing risk of Down's syndrome with increasing parity in both younger (

266 performance of antenatal serum screening for Down's syndrome with the quadruple test in 46193 pregnan

267 g-characteristic curve (AUC) for trisomy 21 (Down's syndrome) with cfDNA testing versus standard scre

268 ars) with karyotypic or clinically diagnosed Down's syndrome, with and without dementia, at four lear

269 ed screening have high rates of detection of Down's syndrome, with low false positive rates.

270 potential for improved prenatal diagnosis of Down's syndrome, with the advantage that results may be