ライフサイエンスコーパス: ASD

1 ASD or autistic features, language and motor delay, and

2 ASD was associated with increased procedures (AOR = 1.5,

3 ASD-associated cellular and behavioral deficits could be

4 ASD-related social behavior was assessed at age 3 years

5 ASDs were prepared from selected polymers, specifically

6 ,827) and from patients with ADHD (N=2,271), ASD (N=1,777), and OCD (N=2,323) from 151 cohorts worldw

7 city, the association was limited to 311 (45 ASD) Black children (aORquartile4: 9.85; 95% CI: 2.53, 3

8 nces across different age groups among ADHD, ASD, and OCD.

9 ASD: (a) can be detected in early-adolescent ASD, (b) occur at early stages of perceptual processing,

10 sk in 572 children, adolescents, and adults (ASD N = 321; typical development [TD] N = 251).

11 man studies with microbiome assessment after ASD presentation.

12 downregulating this pathway and ameliorating ASD-like symptoms.

13 oncentrations were significantly lower among ASD cases than controls and individually predicted case

14 changes and SNO-signaling in the brain of an ASD mouse model that allows the characterization and ide

15 knockout mouse model deficient for Pogz, an ASD risk gene.

16 isk' (LR) group includes children without an ASD diagnosis in the family history.

17 Here, we analyzed ASD primary fibroblasts by measuring mitochondrial bioen

18 h admission in ADHD (+ 1.1 d, p < 0.001) and ASD + ADHD (+ 2.4 d, p = 0.003).

19 endelian randomization to integrate ADHD and ASD GWAS data with fetal brain expression and methylatio

20 1 and 17 that were associated with ADHD and ASD, respectively, through pleiotropy at shared genetic

21 differences in children and adolescents, and ASD-specific cortical thickness differences in the front

22 e shared genetic overlap between the BAP and ASD.

23 For both control and ASD groups, these errors were driven by misestimated vel

24 at the intersection of sex-differential and ASD-impacted neurobiology.

25 ionship between ophthalmologic disorders and ASD is poorly understood.

26 levant relationship between a given gene and ASD.

27 etween the infant/toddler gut microbiome and ASD-related social behaviors at age 3 years.

28 ffected by diverse risk variants for SCZ and ASD and elucidate mechanisms through which highly penetr

29 q11.2 synaptic pathology relevant to SCZ and ASD, and DGCR8 and HIRA are candidate drivers of disease

30 red whether the association between UMFA and ASD risk can be affected by the dihydrofolate reductase

31 and MDB5 have been previously identified as ASD risk genes, suggesting the universal aetiology of AS

32 Polygenic scores of ASD (ASD-PGSs) were generated across the sample to determine

33 67 adult individuals diagnosed with autism (ASD), schizophrenia (SZ), and Down syndrome (DS).

34 rences in GABA(A) receptor densities between ASD and TD groups.

35 croglia is an important cause for sex-biased ASD.

36 n of the bidirectional difficulties for both ASD and neurotypical individuals in interacting with one

37 recurrence rates among families affected by ASD.

38 rm of different types of action performed by ASD or TD children.

39 c gestational IL-17A was sufficient to cause ASD-like phenotypes early and persistently in male offsp

40 to systematically functionally characterize ASD-associated genes in vivo.

41 ly, the knowledge learnt from protein-coding ASD risk genes was transferred to the prediction and pri

42 d propose a model in which genes that confer ASD risk operate in signal transduction networks critica

43 essed in midfetal brain with high confidence ASD risk genes, and near FMRP gene targets are more like

44 vitro pooled assay where 30 high-confidence ASD mutations engineered in subclones of a human pluripo

45 Finally, these functionally convergent ASD gene modules predicted shared clinical phenotypes am

46 a new chemogenetic approach alleviated core ASD-like behaviors of the BTBR strain.

47 Factor 1 was associated with core ASD symptoms.

48 Groups of LAD, current ASD, and typically developing (TD) participants complete

49 itraumatic symptoms and, to a lesser degree, ASD, suggesting that the first 2 weeks after trauma may

50 sleep problems in infants who later develop ASD and possible effects on early brain development.

51 ogical findings in autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD)

52 syndromes, such as autism spectrum disorder (ASD) and Dravet, Fragile X, Prader-Willi, Turner, and Wi

53 of convergence in autism spectrum disorder (ASD) and epilepsy.

54 n individuals with autism spectrum disorder (ASD) and their families, including the presence of autoa

55 d in non-syndromic autism spectrum disorder (ASD) and were differentially expressed as a set between

56 s in children with autism spectrum disorder (ASD) appear to diverge from typical development in the s

57 young adults with autism spectrum disorder (ASD) compared to neurotypical controls.

58 Autism spectrum disorder (ASD) encompasses wide-ranging neuropsychiatric symptoms

59 T Individuals with autism spectrum disorder (ASD) exhibit atypical attentional behaviors, including a

60 n gut bacteria and autism spectrum disorder (ASD) has been explored through animal models and human s

61 Autism spectrum disorder (ASD) has been hypothesized to be a result of the interpl

62 Autism spectrum disorder (ASD) is a brain disorder characterized by social impairm

63 Autism Spectrum Disorder (ASD) is a common neurodevelopmental disturbance afflicti

64 Autism spectrum disorder (ASD) is a constellation of neurodevelopmental disorders

65 Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by s

66 Autism Spectrum Disorder (ASD) is characterized by early attentional differences t

67 Autism spectrum disorder (ASD) is consistently diagnosed 3 to 5 times more frequen

68 Autism spectrum disorder (ASD) is genetically heterogeneous with convergent sympto

69 Autism spectrum disorder (ASD) is often grouped with other brain-related phenotype

70 heterogeneity like Autism Spectrum Disorder (ASD) often pose a challenge for traditional genome-wide

71 , individuals with autism spectrum disorder (ASD) show enhanced performance in simple perceptual disc

72 rth weight (TLBW), autism spectrum disorder (ASD), and asthma.

73 als diagnosed with autism spectrum disorder (ASD), and may potentially contribute to impediments in n

74 y disorder (ADHD), autism spectrum disorder (ASD), and obsessive-compulsive disorder (OCD) are common

75 diseases including Autism Spectrum Disorder (ASD), intellectual disabilities and Phelan-McDermid synd

76 re associated with autism spectrum disorder (ASD), intellectual disability (ID), and schizophrenia (S

77 social deficits in autism spectrum disorder (ASD), no large-scale study has been conducted.

78 Autism spectrum disorder (ASD), obsessive-compulsive disorder (OCD) and attention-

79 nfer high risk for Autism Spectrum Disorder (ASD), schizophrenia (SZ), and Attention-Deficit-Hyperact

80 For a set of 13 autism spectrum disorder (ASD)-associated genes, we show that this approach genera

81 edly implicated in autism spectrum disorder (ASD).

82 isorder (ADHD) and autism spectrum disorder (ASD).

83 s in children with autism spectrum disorder (ASD).

84 he neurobiology of autism spectrum disorder (ASD).

85 of convergence in autism spectrum disorder (ASD).

86 xome sequencing in autism spectrum disorder (ASD).

87 nia, epilepsy, and autism spectrum disorder (ASD).

88 not in adults with autism spectrum disorder (ASD).

89 rgely specific for autism spectrum disorder (ASD).

90 been implicated in autism spectrum disorder (ASD).

91 Autism spectrum disorders (ASD) are a group of related neurodevelopmental diseases

92 at are mutated in Autism Spectrum Disorders (ASD) can be classified broadly as either synaptic or dev

93 he development of autism spectrum disorders (ASD) has been entertained for over a decade.

94 Diagnosing autism spectrum disorders (ASD) is a complicated, time-consuming process which is p

95 al variants among autism spectrum disorders (ASD) patients.

96 ossible causes of autism spectrum disorders (ASD) predominantly in patients with gastrointestinal dis

97 individuals with autism spectrum disorders (ASD), but the neural basis underlying sensory abnormalit

98 sability (ID) and autism spectrum disorders (ASD).

99 individuals with autism spectrum disorders (ASD; n = 24, mean age 23 years, 8 females) and neurotypi

100 n demonstrated in autism spectrum disorders (ASDs); however, the circuits underlying cerebellar contr

101 ained for the presence of a known disruptive ASD-risk mutation that is 1) CHD8 (CHD8 group) (n = 15),

102 We find that each ASD gene with recurrent mutations can be characterized b

103 estimates (aHR, 0.92 [CI, 0.74 to 1.16] for ASD and 0.91 [CI, 0.70 to 1.18] for AD).

104 children was 0.04% (CI, -0.09% to 0.17%) for ASD and 0.02% (CI, -0.09% to 0.14%) for AD.

105 its development as a treatment approach for ASD.

106 ically or (iii) had received a diagnosis for ASD.

107 These were significantly enriched for ASD (Simons Foundation Autism Research Initiative), syna

108 tative targets of the axes were enriched for ASD risk genes and genes encoding inhibitory postsynapti

109 complex, are thought of as risk factors for ASD and schizophrenia (SCZ).

110 hat PTCHD1-AS deletions are risk factors for ASD, and human iPSC-derived neurons implicate these dele

111 its function with potential implications for ASD.

112 PRSs for ASD and those for ADHD both were associated with autisti

113 Higher PRSs for ASD were associated with less optimal overall infant neu

114 ic and were not found for polygenic risk for ASD or schizophrenia.

115 a thousand or more genes may confer risk for ASD when functionally perturbed, however, only around 10

116 YP and LAS1L could plausibly confer risk for ASD.

117 rlier identification of children at risk for ASD.

118 help parse the neurometabolic signature for ASD by phenotypic heterogeneity.

119 ssays, and potential therapeutic targets for ASD.

120 tellectual disabilities with a high risk for ASDs.

121 NA methylation, and histone acetylation from ASD and control brains to identify a convergent molecula

122 levels of those markers in PBMCs taken from ASD patients in response to orally-delivered sulforaphan

123 the core social symptoms of high-functioning ASD in adult men, although this large-scale trial sugges

124 nesis impairment, macrocephaly, and hallmark ASD behaviors, which resembled patient phenotypes.

125 However, ASD pathogenic mechanisms are poorly understood.

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

127 hibited remarkable inaccuracy in identifying ASD children's vitality forms.

128 d across deletions, duplications, idiopathic ASD, SZ but not ADHD.

129 PTHS mouse model DEGs with human idiopathic ASD postmortem brain RNA-sequencing data and found signi

130 NV carriers, 755 individuals with idiopathic ASD, SZ, or ADHD and 1,072 controls.

131 proband cohorts and several other important ASD-associated phenotypes.

132 KI) to describe gray matter abnormalities in ASD in vivo.

133 dysfunction and behavioral abnormalities in ASD.

134 s showed enrichment of processes affected in ASD.

135 logical mechanisms that might be affected in ASD.

136 europhysiology of excitatory synapses and in ASD-associated synaptic impairment.

137 traditional understanding of BM anomalies in ASD as a monolithic deficit and suggest a paradigm shift

138 Given attentional atypicalities in ASD, this study is the first to evaluate whether, under

139 tic account for attentional atypicalities in ASD.

140 cal account for attentional atypicalities in ASD.SIGNIFICANCE STATEMENT Individuals with autism spect

141 ntal stages and reduced flexible behavior in ASD was driven by less optimal learning on average withi

142 al mechanism underlying the male sex bias in ASD.

143 length of stay was increased after birth in ASD (+ 6.5 h, p < 0.001) and ADHD (+ 3.8 h, p < 0.001),

144 both developmental and functional changes in ASD.

145 electro-cortical indices of MSI deficits in ASD: (a) can be detected in early-adolescent ASD, (b) oc

146 flexible behavior changes developmentally in ASD remains largely unknown.

147 ranscriptomic analysis of sex differences in ASD.

148 ociated with gastrointestinal dysfunction in ASD is provided, and a pilot study of metabolites that c

149 s of hyperacusis and auditory dysfunction in ASD.

150 ated with preserved cognitive flexibility in ASD should be further examined.

151 To evaluate the role of HP2 in ASD pathogenesis and to set up a method to discriminate

152 can identify objective molecular markers in ASD.

153 visual task performance and fMRI measures in ASD, and may be attributable to differences in top-down

154 level view of circRNA regulatory networks in ASD cortex samples.

155 hondrial energetics, or neuroinflammation in ASD, alongside widespread starkly atypical moderating ef

156 sate for the functional deficits observed in ASD-associated NLGN4X mutations.

157 sequence for the redox imbalance observed in ASD.

158 be in co-localized regions if they occur in ASD probands versus in their unaffected siblings.

159 d to characterize atypical brain patterns in ASD, although findings have varied across studies.

160 acetylases (HDACs) and many known players in ASD etiology such as transducin beta-like 1 X-linked rec

161 ays between NCORs and other known players in ASD etiology.

162 onverge onto specific molecular processes in ASD.

163 the dynamics of facial-emotion processing in ASD.

164 evels in autistic brains, but their roles in ASD pathogenesis are still unclear.

165 behavior in relation to clinical symptoms in ASD.

166 ral landmark studies of the transcriptome in ASD brain and their relationship to sex-differential gen

167 ver, continuous interindividual variation in ASD suggests that there is a need for a dimensional appr

168 Live-cell imaging after individual ASD-gene repression validated this functional module, co

169 omatosensory function in vivo Interestingly, ASD-linked human Taok2 mutations rendered it nonfunction

170 oRNA-mRNA axes, particularly those involving ASD risk genes.

171 probands point to a small set of well-known ASD genes, the disruption of which produces relevant mou

172 f ASD risk genes are broadly expressed, many ASD individuals may benefit by being treated as having a

173 risk genes are expressed prenatally in many ASD-relevant brain regions and fall into two categories:

174 -modifying NCOR complex is sensitive to many ASD risk factors, including HDAC inhibitor valproic acid

175 The generation of MAR-ASD-specific epitope autoantibodies in female mice prior

176 nsufficient evidence to establish meaningful ASD specificity of any genes based on large-effect rare-

177 Moreover, ASD fibroblasts showed overactive mitochondrial bioenerg

178 Most ASD risk genes are expressed prenatally in many ASD-rele

179 genes, suggesting the universal aetiology of ASD for these genes.

180 (FXS), the most common monogenetic cause of ASD, has emerged as a powerful gateway for exploring und

181 s produced alterations in a constellation of ASD-relevant behaviors.

182 provide a detailed and robust description of ASD risk across the entire range of GAs while adjusting

183 environmental factors in the development of ASD, in which certain brain structures may be more sensi

184 of sleep difficulties in the development of ASD.

185 was not associated with a later diagnosis of ASD (adjusted HR [aHR], 0.95 [95% CI, 0.81 to 1.12]) or

186 for 16 male participants with a diagnosis of ASD and IQ>80 and 17 age- and IQ-matched male typically

187 Effects of ASD and its severity included reduced levels of multiple

188 Given the unknown etiology of ASD and the lifelong consequences of the disorder, ident

189 or the long noncoding RNA in the etiology of ASD.

190 e the in utero environmental risk factors of ASD with epigenetic remodeling and can serve as a conver

191 ical traits that mirror the core features of ASD, referred to as the broad autism phenotype (BAP), ha

192 Hopkins syndrome (PTHS), a syndromic form of ASD caused by mutations in the TCF4 gene, but not the TC

193 in normal social development, a hallmark of ASD.

194 n induced pluripotent stem cells (hiPSCs) of ASD individuals with early developmental brain enlargeme

195 This work charts the phenotypic landscape of ASD-associated genes, offers in vivo variant functional

196 Since the majority of ASD risk genes are broadly expressed, many ASD individua

197 ht into the pathophysiological mechanisms of ASD and SCZ.

198 hyper-reactivity in a Shank3 mouse model of ASD and identify a potential cellular target for explori

199 hybrid dimensional and categorical models of ASD, and 4) systematic independent replications and vali

200 to assess social deficits in mouse models of ASD.

201 aling two functionally convergent modules of ASD genes: one that delays neuron differentiation and on

202 ein was consistently associated with odds of ASD in case-control comparisons, with higher odds associ

203 CI = 1.16-8.01) were associated with odds of ASD in the matched sibling comparison.

204 ironment interactions in the pathogenesis of ASD and intellectual disability.

205 The pathogenesis of ASD is not known, but it involves activation of microgli

206 categorical and dimensional perspectives of ASD heterogeneity.

207 rred to the prediction and prioritization of ASD-associated lncRNAs.

208 ng(s) diagnosed with ASD had higher rates of ASD than the general population (relative risk, 3.05; 95

209 social and cognitive deficits reminiscent of ASD and ID phenotypes.

210 late, were associated with a greater risk of ASD in Black children.

211 immune response are associated with risk of ASD, although the nature of these associations varies co

212 RR of ASD increased by GA, from 40 to 24 weeks and from 40 to

213 Polygenic scores of ASD (ASD-PGSs) were generated across the sample to deter

214 We provided a rich set of ASD-associated circRNA candidates and the corresponding

215 esenting key cellular effects across sets of ASD/ND risk genes.

216 However, studies of ASD in the Vietnamese population are limited.

217 Animal models used in the study of ASD frequently recapitulate dysregulation of sleep and b

218 which are similar to findings in a subset of ASD patients, indicate a bias toward processing informat

219 une and neonatal brain injury in a subset of ASD that may benefit from monocyte-targeted treatments.

220 o identify a convergent molecular subtype of ASD with shared dysregulation across both the epigenome

221 ond the social and communicative symptoms of ASD, impacting perceptual domains.

222 th white matter and social-brain theories of ASD.

223 ensory function might be a common feature of ASDs.

224 d S685 as one phosphorylation site where one ASD-linked variant has been reported.

225 s which should be considered when optimizing ASD formulations to maximize oral drug absorption.

226 CHD8 plays a role in the regulation of other ASD-risk genes.

227 We uncovered 17 genes from our ASD cohort in which CHD8, DYRK1A, GRIN2B, SCN2A, OFD1 an

228 in (AVP) is significantly lower in pediatric ASD cases vs. controls.

229 ow-moving, making identification of putative ASD risk genes with existing data vital.

230 t upstream, highly interconnected regulatory ASD gene mutations disrupt transcriptional programs or s

231 Using a syndromic ASD model, e.g., Black and Tan BRachyury T(+)Itpr3(tf)/J

232 ocation sequencing (HTGTS) demonstrates that ASD-derived NPCs harbored elevated DNA double-strand bre

233 ntology-based analysis further revealed that ASD genes activate neural differentiation and inhibit ce

234 g machine learning techniques suggested that ASD detection in children can be achieved with substanti

235 Emerging evidence also suggests that ASD may be a disorder of brain temporal dynamics.

236 el that demonstrates for the first time that ASD-specific antigen-induced maternal autoantibodies pro

237 but there was heightened variability in the ASD group.

238 In boys with ASD, cerebral overgrowth in the ASD with disproportionate megalencephaly subgroup was pr

239 d Drosophila Tao kinase, the ortholog of the ASD risk gene Taok2, as a regulator of dendritic arboriz

240 There exist at least three ASD factors with dissociable whole-brain RSFC patterns,

241 etabolism, and/or inflammation contribute to ASD neuropathology.

242 cuits underlying cerebellar contributions to ASD-relevant behaviors remain unknown.

243 s encoded from whole genome sequence data to ASD; however, this previous approach cannot take into ac

244 d to reflect underlying genetic liability to ASD.

245 CNVs on neurobehavioral measures relevant to ASD and psychosis in 106 22q11.2 deletion carriers, 38 2

246 Estimates of the number of genes relevant to ASD differ greatly among research groups and clinical se

247 of health and development highly relevant to ASD.

248 nisms regulating social function relevant to ASDs and suggest 2-AG augmentation could reduce social d

249 ial suggests oxytocin's possibility to treat ASD repetitive behavior.

250 The UMFA-ASD association in Black children slightly attenuated af

251 n excitatory-inhibitory imbalance underlying ASD.

252 t expansions included previously undescribed ASD-linked expansions in DMPK and FXN, which are associa

253 tudinal sample comprising 273 boys (199 with ASD) scanned at up to four time points (mean ages = 38,

254 months, respectively) and 156 girls (95 with ASD) scanned at up to three time points (mean ages = 39,

255 ce spectroscopy ((1)H-MRS) in 28 adults with ASD and 29 age-matched typically developing (TD) individ

256 ine compounds in 78 children and adults with ASD and 96 typically developing children and adults, rig

257 rea as a potential biomarker for adults with ASD with less severe developmental communication deficit

258 g of negative facial emotions in adults with ASD-but not in neurotypical adults.

259 ble genes, some of which are associated with ASD pathogenesis.

260 connections between regions associated with ASD that were not detected via traditional brain network

261 to predict candidate lncRNAs associated with ASD.

262 he biochemical abnormalities associated with ASD.

263 In boys with ASD, cerebral overgrowth in the ASD with disproportionat

264 samples from a large cohort of children with ASD and typically developing control children.

265 nearly a quarter of mothers of children with ASD versus <1% in mothers of typically developing childr

266 and behavioral measures in 176 children with ASD, ADHD or OCD with complete data that passed quality

267 sed (P = 0.03) in the serum of children with ASD.

268 ate it in healthy subjects and children with ASD.

269 of ophthalmologic disorders in children with ASD.

270 of ophthalmologic diagnoses in children with ASD.

271 e conditions) in 4,789 (0.6%) children, with ASD and intellectual disability the most common combinat

272 ion of signaling pathways is correlated with ASD social symptom severity.

273 nd trajectory irregularities correlated with ASD symptom severity.

274 of mothers with a sibling(s) diagnosed with ASD had higher rates of ASD than the general population

275 amples from individuals later diagnosed with ASD, matched them 1:2 with appropriate controls (n = 33

276 incRNAs, previously shown to co-express with ASD risk genes.

277 Males and females with ASD and age- and gender-matched controls participated in

278 knowledge of cerebral growth in females with ASD.

279 ly significant relationships were found with ASD and ADHD diagnoses (p = 0.0006 and p = 0.002, respec

280 This suggests that individuals with ASD evince atypical modulation of LC activity in accorda

281 Compared with controls, individuals with ASD evinced atypical pupillary responses in the presence

282 t attentional task demands, individuals with ASD exhibit a different profile of LC activity compared

283 These findings suggest that individuals with ASD show atypical modulation of LC activity with changes

284 ignal) in the left DLPFC of individuals with ASD than that of TD controls.

285 ast, biallelic deletions in individuals with ASD were enriched for overlap with regulatory regions, w

286 factors are coexpressed in individuals with ASD with different degrees, thus reconciling categorical

287 h AQ and RAADS-R scores for individuals with ASD, but not for TD controls.

288 ibility task performance in individuals with ASD.

289 etween region MT+ and V1 in individuals with ASD: individuals with high MT+ responses had attenuated

290 der to explore the association of ITIH3 with ASD, the present study included three components: identi

291 pen label clinical trials, participants with ASD were administered a single infusion of autologous um

292 lly expressed as a set between patients with ASD and controls in postmortem cortical regions.

293 was observed for fathers with siblings with ASD (relative risk, 2.08; 95% confidence interval, 1.53-

294 scriminate HP alleles, Italian subjects with ASD (n = 398) and healthy controls (n = 379) were genoty

295 iPSC-derived neurons from subjects with ASD exhibited reduced miniature excitatory postsynaptic

296 e social motivation challenges in those with ASD, larger head circumference, higher weight, and lower

297 re environmental contributions in twins with ASD on some structural brain measures, such that cortica

298 ity of variation in brain size in twins with ASD, potentially to a larger extent regarding curvature

299 ren with one or more siblings diagnosed with ASDs; whereas the 'low risk' (LR) group includes childre

300 d dizygotic (DZ) twin pairs with and without ASD (aged 6-15 years) were recruited to participate in t