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

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

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

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

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

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

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

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

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

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

13 1.4-1.8) than were those that did not report Down's syndrome.

14 and genetic disorders such as trisomy 21 in 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 complex pathophysiological abnormalities in Down's syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

143 1 and is thus a candidate for involvement in Down's syndrome (DS), a complex disorder resulting from

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

174 Down's syndrome is associated with structural brain abno

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

176 Down's syndrome is characterized by the genetically prog

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

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

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

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

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

182 Down's syndrome is the most frequently identified cause

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

217 Nondemented Down's syndrome subjects had significantly smaller volum

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

233 Down's syndrome therefore represents a model for studyin

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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