ライフサイエンスコーパス: ASD

1 ASD cases were matched to controls by sex, birth month,

2 ASD risk appears to increase with maternal fever, partic

3 ASD- and schizophrenia-related polygenic effects were un

4 ASD-derived neurons display abnormal neurogenesis and re

5 ASD-derived neurons had a significant decrease in synapt

6 ASD-derived NPCs display increased cell proliferation be

7 ASD-PTEN mutations display decreased stability, catalyti

8 We examined the properties of 11 ASD-associated SCN2A variants in heterologous expression

9 are reduced in cortical neurons of Ube3A 2X ASD mice.

10 e-wide copy number variation analysis of 343 ASD trios, 203 patients with sporadic cases and 988 cont

11 We recruited 36 ASD families (ASD: 37, unaffected parents: 36, unaffecte

12 As a result, we prioritized 67 ASD-candidate genes that exhibited significantly higher

13 d clinician-rated diagnostic certainty about ASD) in later childhood.

14 , is one of the most MIA-dysregulated of all ASD-associated genes and targeted network analyses demon

15 Although ASD is diagnosed based on the presence and severity of i

16 onsideration are strongly correlated with an ASD diagnosis but also that the statistical analysis use

17 associations between pesticide exposures and ASD were attenuated among those with high versus low FA

18 HT levels, linking integrin beta3, 5-HT, and ASD risk.

19 fection and vaccination during pregnancy and ASD risk.

20 n influenza vaccination during pregnancy and ASD.

21 t relationships between maternal smoking and ASD risk.

22 ociation between antidepressant exposure and ASDs (odds ratio [OR], 1.81; 95% CI, 1.49-2.20).

23 individual trimester or before pregnancy and ASDs.

24 netic overlap between clinically ascertained ASD and ADHD remains largely unclear.

25 existing medications target only associated ASD features.

26 ional analyses revealed associations between ASD severity and FA, RD, and MD in more extended portion

27 ore complete picture of associations between ASD traits and inattention and indexes of white matter o

28 The presence of a genetic link between ASD and ADHD symptoms is supported by twin studies, but

29 The current findings confirm overlap between ASD and OCD in terms of glutamate involvement.

30 We explored relationships between ASD and residential location both at birth and at age 6

31 Compared to Con, both ASD and Sib LCLs exhibited significantly higher proton l

32 d UCP2 gene expression was increased in both ASD and Sib compared to Con LCLs.

33 d 158 possible ASD-risk genes in 536 Chinese ASD probands and detected 22 damaging de novo mutations

34 Data on clinical ASD (PGC-ASD: 5305 cases, 5305 pseudo-controls; iPSYCH-A

35 hanism whereby a protein encoded by a common ASD risk factor controls E/I ratios by regulating excita

36 s or copy number variants in high-confidence ASD-associated genes or loci.

37 This study utilizes the Allosteric Database (ASD v3.0) and ChEMBL v20 to systematically obtain large

38 iated with asparagine synthetase deficiency (ASD).

39 nto the pathogenesis of Ube3A/E6AP-dependent ASD.SIGNIFICANCE STATEMENT Copy number variation of the

40 isability (ID) and autism spectrum disorder (ASD) and affects an estimated 3 in 10 000 people.

41 al overlap between autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD)

42 penetrant cause of autism spectrum disorder (ASD) and intellectual disability (ID), and frequently pr

43 participants with autism spectrum disorder (ASD) and other developmental abnormalities to construct

44 ders, particularly autism spectrum disorder (ASD) and schizophrenia (SCZ).

45 ants who developed autism spectrum disorder (ASD) had increased cerebrospinal fluid (CSF) in the suba

46 c risk factors for autism spectrum disorder (ASD) have yet to be fully elucidated.

47 ternal smoking and autism spectrum disorder (ASD) in offspring have produced conflicting findings, an

48 e core symptoms of autism spectrum disorder (ASD) include impaired social communication, repetitive b

49 Autism spectrum disorder (ASD) is 2 to 5 times more common in male individuals tha

50 Autism spectrum disorder (ASD) is a behaviorally defined condition that manifests

51 Autism spectrum disorder (ASD) is a developmental disorder defined by behavioral f

52 Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental diso

53 Autism spectrum disorder (ASD) is a neurodevelopmental disorder with unclear etiol

54 Autism spectrum disorder (ASD) is associated with physiological abnormalities, inc

55 Autism spectrum disorder (ASD) is characterized by ritualistic-repetitive behavior

56 Autism spectrum disorder (ASD) is characterized by social communication deficits a

57 Autism spectrum disorder (ASD) is frequently associated with communicative impairm

58 Autism spectrum disorder (ASD) is known to be more prevalent among males than fema

59 the prevalence of autism spectrum disorder (ASD) may be increasing and that it varies geographically

60 Auism spectrum disorder (ASD) now affects one in 68 births in the United States a

61 Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo

62 Individuals with Autism Spectrum Disorder (ASD) seem to have difficulties looking others in the eye

63 g of families with autism spectrum disorder (ASD) to build a resource (MSSNG) for subcategorizing the

64 le genes linked to autism spectrum disorder (ASD), and human MEF2C haploinsufficiency results in ASD,

65 ly associated with autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD) an

66 ostic criteria for autism spectrum disorder (ASD), but little research has addressed how people with

67 t risk factors for autism spectrum disorder (ASD), developmental delay, and infantile seizures.

68 Individuals with autism spectrum disorder (ASD), including those who otherwise require less support

69 n individuals with autism spectrum disorder (ASD), schizophrenia and intellectual disabilities (ID),

70 Within autism spectrum disorder (ASD), some work has used pupil physiology to successfull

71 s of children with autism spectrum disorder (ASD), we find strong statistical significance that the a

72 n in children with autism spectrum disorder (ASD), we sought to define the relationship between MET-e

73 NCE STATEMENT Many autism spectrum disorder (ASD)-linked mutations disrupt the function of synaptic p

74 hildren to develop autism spectrum disorder (ASD).

75 lops atypically in autism spectrum disorder (ASD).

76 ated with risk for autism spectrum disorder (ASD).

77 des in relation to autism spectrum disorder (ASD).

78 ions atypically in autism spectrum disorder (ASD).

79 tergic synapses in autism spectrum disorder (ASD).

80 increase risk for autism spectrum disorder (ASD).

81 nsporter (SERT) in autism spectrum disorder (ASD).

82 ditions, including autism spectrum disorder (ASD).

83 associations with autism spectrum disorder (ASD).

84 uence the risk for autism spectrum disorder (ASD).

85 isability (ID) and autism spectrum disorder (ASD).

86 ildren with severe autism spectrum disorder (ASD); however, there are long waiting times for this pro

87 Autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD)

88 c overlap between autism spectrum disorders (ASD) and schizophrenia.

89 the children with autism spectrum disorders (ASD) are positive for these autoantibodies and high-dose

90 iagnosed cases of Autism Spectrum Disorders (ASD) has increased dramatically over the last four decad

91 eurodevelopmental autism spectrum disorders (ASD), characterized, in part, by distinct social and com

92 utic potential in autism spectrum disorders (ASD), including tuberous sclerosis complex (TSC).

93 increase risk for autism spectrum disorders (ASD).

94 onogenic cause of autism spectrum disorders (ASD).

95 icits observed in autism spectrum disorders (ASD).

96 y) for developing Autism Spectrum Disorders (ASD).

97 Autism spectrum disorders (ASDs) and obsessive compulsive disorder (OCD) are often

98 the incidence of autism spectrum disorders (ASDs) is one of the most notable characteristics of this

99 n associated with autism spectrum disorders (ASDs) within a subgroup of patients with elevated blood

100 common symptom in autism spectrum disorders (ASDs), including fragile X syndrome (FXS), and frequentl

101 models of OCD and autism spectrum disorders (ASDs).

102 a common cause of autism spectrum disorders (ASDs).

103 uld sensitively and specifically distinguish ASD samples from TD samples (AUC is 0.88).

104 ot abnormal redox homeostasis, distinguishes ASD from unaffected LCLs.

105 We recruited 36 ASD families (ASD: 37, unaffected parents: 36, unaffected siblings: 33

106 male was associated with risk in the family, ASD was diagnosed in 4.2% (95% CI, 3.8%-4.7%) of female

107 In fMRI, ASD patients showed disorder-specific reduced left dorso

108 up variation is an important risk factor for ASD.

109 ations with several congeners were found for ASD relative to GP (e.g., quartile 4 vs. 1, BDE-153: AOR

110 as novel candidate susceptibility genes for ASD in the Lebanese.

111 was observed in the neuro-typical group, for ASD participants a smaller response failed to reach stat

112 etiology of ASD or an early risk marker for ASD.

113 ort to identify early biological markers for ASD.

114 lar and molecular mechanisms responsible for ASD pathogenesis have been proposed based on genetic stu

115 The mechanisms responsible for ASD symptoms and their sex differences remain mostly unc

116 henotype carries a higher intrinsic risk for ASD than the female phenotype.

117 genetically related cohorts at high risk for ASD, reciprocal neuroanatomic abnormalities were found a

118 cantly associated with an increased risk for ASDs (OR controlled for past maternal illness, 1.77; 95%

119 al phenotype and synaptogenesis defects from ASD neuronal co-cultures.

120 ral progenitor cells (NPCs) and neurons from ASD individuals with early brain overgrowth and non-ASD

121 ifferences between low- and high-functioning ASD in the link with ADHD.

122 ommunication in adults with high-functioning ASD.

123 or high-functioning than for low-functioning ASD.

124 D compared with individuals who did not have ASD (odds ratio (OR)=22.33, 95% confidence interval (CI)

125 We therefore investigated how ASD and ADHD co-aggregate in individuals and in families

126 In humans, ASD is frequently associated with comorbid medical condi

127 ficantly decreased clustering coefficient in ASD in alpha band, indicating a loss of small-world arch

128 Whole brain connectivity in ASD group was found to be significantly reduced in theta

129 w of preserved processing of musical cues in ASD individuals, with a corresponding prosodic impairmen

130 shown that characteristic social deficits in ASD emerge during the latter part of the first and in th

131 roader perspective of social difficulties in ASD that considers both the individual's impairments and

132 s were previously reported to harbor DNMs in ASD patients from other populations, while 11 of them we

133 we review reports of microbial dysbiosis in ASD.

134 ty and the resulting synaptic dysfunction in ASD-related pathogenesis, and point to the Trio-Rac1 pat

135 hesis of systemic elemental dysregulation in ASD.

136 evealing an important role for Ube3A/E6AP in ASD-related developmental alteration in dendritic arbori

137 ations of glycosylation and glycoproteins in ASD.

138 music may lead to the prosodic impairment in ASD.

139 e some of Mic-Mac-risk genes are involved in ASD.

140 al challenge studies to reveal mechanisms in ASD and SCZ.

141 Traditional treatment methods in ASD are limited, and do not address the aberrant network

142 e hypothesis of reduced social motivation in ASD.

143 a slight increase in number was observed in ASD patients and family members compared to controls, th

144 the neurodevelopmental deficits observed in ASD.

145 ards line-like decentralized organization in ASD.

146 studies reveal important roles for RCrusI in ASD-related behaviors.

147 it level or abnormal behavioral responses in ASD mouse models, especially during an early development

148 nt with other expression and DNAm results in ASD, and reveal pathways not implicated by genetic findi

149 nd human MEF2C haploinsufficiency results in ASD, intellectual disability, and epilepsy.

150 variation contributes additively to risk in ASD cases who carry a strongly acting de novo variant.

151 systems thought to play a prominent role in ASD, such as the frontal cortex and cerebellum.

152 pha plays a previously unappreciated role in ASD-related synaptic and behavioral phenotypes.SIGNIFICA

153 te to brain dysfunction such as that seen in ASD and other developmental disorders.

154 resemble medical comorbidities often seen in ASD and other neuropsychiatric conditions.

155 ion as diagnostic and therapeutic targets in ASD.

156 e expression of which has been implicated in ASDs.

157 There was a suggestion of increased ASD risk among children whose mothers received an influe

158 as the only period associated with increased ASD risk (adjusted hazard ratio, 1.20; 95% CI, 1.04-1.39

159 trimester was not associated with increased ASD risk.

160 pregnancy was not associated with increased ASD risk.

161 ing specific developmental windows increases ASD risk and severity, supporting the hypothesis of syst

162 brain and blood-based DNAm for insights into ASD and psychiatric phenotypes more broadly.

163 SD: 5305 cases, 5305 pseudo-controls; iPSYCH-ASD: 7783 cases, 11 359 controls) and schizophrenia (PGC

164 o identified several CNVs that include known ASD genes (SHANK3, CDH10, CSMD1) or genes involved in ne

165 ed with each another, as well as other known ASD-risk genes.

166 studies (GWAS) data from two of the largest ASD family cohorts, the Autism Genetics Resource Exchang

167 a possible key point of convergence of many ASD-related genes.Trio is a RhoGEF protein that promotes

168 prehensive study revealed that although most ASD participants performed atypically in at least one as

169 ividuals with early brain overgrowth and non-ASD controls with normal brain size.

170 ohort of three individuals with nonsyndromic ASD sharing common behaviors and three control subjects,

171 dysfunction as the most frequently observed ASD risk factor detectable by exome sequencing and sugge

172 In 294 of 2,620 (11.2%) of ASD cases, a molecular basis could be determined and 7.2

173 In animal models of FXS and of ASD, GABA-B agonists have improved both brain and behavi

174 t neurochemical and behavioral attributes of ASD.

175 n the pathogenesis of at least some cases of ASD.

176 e, in humans, we discover a large cluster of ASD-related de novo mutations in Trio's Rac1 activating

177 siology of gastrointestinal comorbidities of ASD.

178 bustly associated with cognitive deficits of ASD and ID in humans, and overexpression of small 22q11.

179 rain development resulting in development of ASD-like characteristics in offspring of mothers with de

180 4-68 months, with and without a diagnosis of ASD took part in the study.

181 families (37507 with at least 1 diagnosis of ASD) enrolled in commercial health care insurance plans

182 as a biomarker that may aid in diagnosis of ASD.

183 eses according to which the sex disparity of ASD incidence is (A) due to WM connectivity rather than

184 and lung meQTL lists to assess enrichment of ASD GWAS results for tissue-specific meQTLs.

185 is a contributing factor to the etiology of ASD or an early risk marker for ASD.

186 tors are involved in the etiopathogenesis of ASD, including genetic factors, environmental toxins and

187 MIA downregulates expression of ASD-associated genes, with the largest enrichments in ge

188 novel risk genes for single core features of ASD.

189 have come to understand the heterogeneity of ASD and other neurodevelopmental disorders, the relation

190 trative database to measure the incidence of ASD among children in 1583271 families (37507 with at le

191 analyses revealed a significant influence of ASD diagnosis on several DTI metrics (FA, MD, RD, and AD

192 were evident using an independent measure of ASD traits (ie, children communication checklist, second

193 ey were less impaired on certain measures of ASD core symptoms (parent-rated social communication abn

194 an insight into the underlying pathology of ASD and possibly serve as a biomarker that may aid in di

195 regarding the underlying pathophysiology of ASD.

196 es most of the core behavioral phenotypes of ASD, to test the effects of systemic administration of i

197 of mitochondrial haplogroup as predictors of ASD risk.

198 While the male preponderant prevalence of ASD might partially be explained by sex differences in c

199 To examine the probability of ASD as a function of normative sex-related phenotypic di

200 The sample probability of ASD increased significantly with predictive probabilitie

201 y associated with low or high probability of ASD.

202 tion by comparing the phenotypic profiles of ASD probands with or without identified de novo loss of

203 gs are in agreement with the higher rates of ASD observed among males than among females in the gener

204 tudy of 106 infants at high familial risk of ASD and 42 low-risk infants, we show that hyperexpansion

205 o PCBs and OCPs influences offspring risk of ASD and intellectual disability without autism (ID).

206 s were not associated with increased risk of ASD in primary analyses, whereas nonmonotonic increases

207 Here we report the role of ASD-related increased dosage of Ube3A/E6AP in dendritic

208 phenotypes, including behavioral symptoms of ASD and epilepsy.

209 rently, strategies to treat core symptoms of ASD are directed to correct synaptic dysfunctions, abnor

210 ual mutations to core behavioral symptoms of ASD remain poorly understood.

211 Symptoms of ASD typically occur during early childhood, whereas most

212 The CpG targets of ASD meQTLs across cord, blood, and brain tissues are enr

213 Clinical diagnoses of ASDs identified by International Classification of Disea

214 ut pivotal for understanding the etiology of ASDs in general.

215 In mouse models of ASDs, there is mounting evidence of neuronal and circuit

216 and that cytokine profiles vary depending on ASD severity.

217 scuss potential effects of the microbiota on ASD-associated symptoms, drawing on signaling mechanisms

218 t make a significant contribution to overall ASD risk.

219 and deletions or copy number variations per ASD subject.

220 Data on clinical ASD (PGC-ASD: 5305 cases, 5305 pseudo-controls; iPSYCH-ASD: 7783

221 aly (Mic-Mac)-related genes and 158 possible ASD-risk genes in 536 Chinese ASD probands and detected

222 ent molecular abnormalities found in several ASD mice models, including those of identified genetic m

223 T, and EWT in children diagnosed with severe ASD who were treated at Ontario's Autism Intervention Pr

224 For some ASD patients, fibroblast cell culture studies have elimi

225 d imaging, but a major impediment to testing ASD hypotheses is the lack of human cell models.

226 nown to be persistently downregulated in the ASD cortex later in life and which are canonically known

227 of several PCB congeners were higher in the ASD group than in the ID and GP groups.

228 conditions were linked to pupil size in the ASD group, thus suggesting heightened noradrenergic resp

229 group and an atypical rightward shift in the ASD group.

230 ile still correctly identifying 97.6% of the ASD cohort.

231 nt treatment that can ameliorate most of the ASD symptomatology; thus, identifying novel therapies is

232 this population, hence, is not linked to the ASD phenotype.

233 preserved in gene network structure with the ASD cortical transcriptome throughout life and has downs

234 ral possible immune subphenotypes within the ASD population that correlate with more severe behaviora

235 rly in developing neurons, may contribute to ASD etiology.

236 NVs and related genes that may contribute to ASD risk.

237 s, the contribution of RCrusI dysfunction to ASD remains unclear.

238 ster of human gestation) in ways relevant to ASD-associated pathophysiology.

239 tive motor stereotypies that are relevant to ASD.

240 but no single gene accounts for >1% of total ASD cases.

241 lso evident in the Purkinje neuron (PN) TscI ASD mouse model.

242 The genetic causes underlying ASD in approximately half of patients remain unknown, de

243 507 children born during 1989-1999 (486 with ASD).

244 8 right-handed, high-functioning adults with ASD and 98 matched neurotypical control individuals aged

245 tric measurements indicated that adults with ASD are less surprised than neurotypical adults when the

246 rmediate state, high-functioning adults with ASD show fewer neural transitions due to an unstable int

247 How variants associated with ASD affect NaV1.2 function and neuronal excitability are

248 tokine profiles at birth are associated with ASD later in childhood and that cytokine profiles vary d

249 the intellectual disability associated with ASD might be etiologically distinct from DD without ASD.

250 s and that early defects are associated with ASD-associated mutations.

251 enetic risk factors that are associated with ASD.

252 sted odds ratios (AOR) for associations with ASD, and separately for ID, compared with GP controls, b

253 within a representative cohort of boys with ASD.

254 d case-control study including children with ASD (n=545) and ID (n=181) identified from the Californi

255 ing glycoproteins (MBGs) in 65 children with ASD and 65 age-matched typically developing (TD) childre

256 ed increased glutamate both in children with ASD and OCD compared with controls (p=0.007), but no dif

257 Children with ASD may be phenotypically characterized based upon their

258 In MST analysis, children with ASD showed a significant lower leaf fractions with a dec

259 inferior parietal lobule, and children with ASD showed atypical functional connectivity in this circ

260 and how the brain networks in children with ASD were abnormally organized with resting state EEG.

261 Children with ASD were found to show a reduced relative preference for

262 Children with ASD with de novo mutations may exhibit a "muted" symptom

263 distinction between mothers of children with ASD+ID from mothers of children with ASD-noID or DD sugg

264 onal Units, twice daily) in 32 children with ASD, aged 6-12 y.

265 en with ASD+ID from mothers of children with ASD-noID or DD suggests that the intellectual disability

266 findings have been reported in children with ASD.

267 tion, have been observed among children with ASD.

268 though RCrusI is functionally connected with ASD-implicated circuits, the contribution of RCrusI dysf

269 Manganese and lead are also correlated with ASD severity and autistic traits.

270 A total of 47 infants were diagnosed with ASD at 24 months and were compared with 174 high-risk an

271 ch high-risk infants would be diagnosed with ASD at 24 months with an overall accuracy of 69% and cor

272 main, identified in a proband diagnosed with ASD, decreases both CaMKIIalpha substrate phosphorylatio

273 quencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a dat

274 fied by child sex (including 99 females with ASD, 77 with ID, and 73 with GP), estimates were consist

275 Individuals with ASD and their relatives are at increased risk of ADHD.

276 ion frequency, IQ scores of individuals with ASD are instead predicted by the stability of their brai

277 d that first impressions of individuals with ASD made from thin slices of real-world social behavior

278 rained to look in the eyes, individuals with ASD show abnormally high activation in the subcortical s

279 Relatives of individuals with ASD were at higher risk of ADHD compared with relatives

280 Individuals with ASD were at higher risk of having ADHD compared with ind

281 Among the 98 individuals with ASD, 49 were male and 49 female, with a mean (SD) age of

282 was subsequently applied to individuals with ASD.

283 erize the brain function in individuals with ASD.

284 These results suggest that infants with ASD, even before 6 months of age, have deficits in conne

285 r, a common manifestation of infection, with ASD risk.

286 inuum of the neuronal phenotypes of NF1 with ASD.

287 ce perception in groups of participants with ASD and typical controls.

288 ained three brain nodes in participants with ASD, in which the aberrant connectivity has been shown t

289 ially-ancestrally-related index patient with ASD and glaucoma.

290 tivation abnormalities between patients with ASD (structural MRI: 911; fMRI: 188) and OCD (structural

291 itory control abnormalities in patients with ASD and OCD.

292 (b) decreases in the amygdala as people with ASD age into adulthood, a phenomenon not found in TD.

293 ittle research has addressed how people with ASD represent and respond to environmental change.

294 and language deficits relative to those with ASD with no identified genetic abnormalities.

295 Youth with ASD showed reduced NAcc connectivity with other areas in

296 In children and adolescents with and without ASD, we computationally modeled individuals' visual orie

297 ht be etiologically distinct from DD without ASD.

298 mpared with relatives of individuals without ASD.

299 4 high-risk and 122 low-risk infants without ASD.

300 wever, spine density is (a) greater in young ASD cases compared to age-matched TD controls (<18 years