ライフサイエンスコーパス: autism

1 transplantation in a mouse genetic model of autism.

2 oral abnormalities that bear similarities to autism.

3 sociated with clinical phenotypes of FXS and autism.

4 depression, 3 of 11 for ADHD and 1 of 2 for autism.

5 es of excitation and inhibition imbalance in autism.

6 approach to overcoming the heterogeneity of autism.

7 ized to contribute to the pathophysiology of autism.

8 oup of patients with dyslipidemia-associated autism.

9 early prenatal development may be altered in autism.

10 e its over-expression increases the risk for autism.

11 ould be a potential therapeutic strategy for autism.

12 rologic disorders, such as schizophrenia and autism.

13 for targeted intervention of FXS and perhaps autism.

14 ed cellular events during prenatal stages in autism.

15 elevated prenatal steroidogenic activity in autism.

16 opmental disorders such as schizophrenia and autism.

17 py for neuropsychiatric disorders, including autism.

18 eterogeneous groups that are not specific to autism.

19 ently test early-developmental hypotheses of autism.

20 identified in up to 20% of individuals with autism.

21 ing them to diseases such as Alzheimer's and autism.

22 rdation and the primary monogenetic cause of autism.

23 understand movement imitation differences in autism.

24 between prenatal antidepressant exposure and autism.

25 al role in defining the clinical features of autism.

26 oping treatments for AS and various forms of autism.

27 ion of prenatal antidepressant exposure with autism.

28 LGN4 and can lead to synaptic dysfunction in autism.

29 ine personality disorder, schizophrenia, and autism.

30 epresentational impairment in autism, making autism a natural behavioural and neurophysiological test

31 in patients with intellectual disability and autism ablate its catalytic activity or ankyrin-G intera

32 y-onset neurodevelopmental conditions (e.g., autism) affect males more frequently than females.

33 n and movement imitation are also altered in autism and can be measured more objectively.

34 cal states, such as hyperekplexia, epilepsy, autism and chronic pain.

35 ging variants in genes associated with human autism and developmental delay, providing a framework fo

36 opmental disorders, including schizophrenia, autism and epilepsy.

37 enabling role of tau in the pathogenesis of autism and identify tau reduction as a potential therape

38 er of genes enriched for syndromic causes of autism and intellectual disability and for genes that in

39 anagement of neurological disorders, such as autism and intellectual disability, that are characteriz

40 ely to have coexisting conditions, including autism and intellectual disability.

41 tion phenotype increases in populations with autism and is associated with weaker cognitive abilities

42 sociated with neurologic disorders including autism and microcephaly.

43 rlie intolerance to uncertainty, observed in autism and related psychiatric conditions.

44 nucleotide variants that are associated with autism and schizophrenia are colocalized with distinct c

45 omolog of the human CYFIP1, a gene linked to autism and schizophrenia, exhibit mitochondrial hyperact

46 everal neuropsychiatric disorders, including autism and schizophrenia.

47 nked to neurodevelopmental disorders such as autism and schizophrenia.

48 impaired in neurological disorders, such as autism and schizophrenia.

49 1 point of pLI decreases IQ by 2.6 points in autism and unselected populations.

50 iseases, including chronic neuropathic pain, autism, and epilepsy.

51 opmental and psychiatric diagnoses including autism, and measures of traits related to autism (self-r

52 ychiatric disorders like fragile X syndrome, autism, and others.

53 tly associated with intellectual disability, autism, and schizophrenia.

54 Genes implicated in cancer, autism, and viral interaction are found by this measure

55 velopmental disorders such as schizophrenia, autism, and Williams syndrome.

56 ormation is not chronically underweighted in autism, as proposed by simple Bayesian accounts of the d

57 well as 67 adult individuals diagnosed with autism (ASD), schizophrenia (SZ), and Down syndrome (DS)

58 transmission and plasticity, contributing to autism-associated behavioral abnormalities.

59 Autism-associated disruption of this exon results in inc

60 Here we report that an autism-associated mutation in the synaptic adhesion mole

61 has been associated with impaired learning, autism, ataxia, and schizophrenia.

62 on-deficit hyperactivity disorder (ADHD) and autism (AUT).

63 ealthy control data from the ABIDE I and II (Autism Brain Imaging Data Exchange) and PING (Pediatric

64 We discovered that autism candidate genes are significantly enriched for bi

65 Neurodevelopmental genes including autism candidates are vulnerable to environmental exposu

66 oth future scientific investigations and the autism community.

67 odular, machine learning-based assessment of autism comprising three complementary modules for a unif

68 hat have not been previously reported in any autism database: CHM, ENPP1, IGF1, LAS1L, SYP and TBX22.

69 l anisotropy compared with individuals whose autism decreased in severity.

70 There are no current treatments for autism, despite its high prevalence.

71 ulation-level dataset, we find that rates of autism diagnosis continued to be on the rise in recent y

72 As rates of autism diagnosis increased dramatically over the past nu

73 Since oxytocin reduced the primary endpoint, Autism Diagnostic Observation Schedule (ADOS) reciprocit

74 dely used behavioral diagnostic tools is the Autism Diagnostic Observation Schedule (ADOS).

75 transitions, the functional implications of autism disease mutations and the role of phosphoinositid

76 mutations have been linked to schizophrenia, autism, epilepsy, and cognitive impairment.

77 that infants who go on to be diagnosed with autism exhibit early differences in gaze behaviour that

78 nk genes on whole genomes from 756 multiplex autism families.

79 The creation of autism-friendly contexts is best achieved by supporting

80 stimuli in infants at high and low risk for autism from the British Autism Sibling Infant Study (BAS

81 illustrate how the loss of a high confidence autism gene can impair long-range communication by causi

82 Autism genetics has progressed in parallel with technolo

83 Autism has become a pressing healthcare challenge.

84 Autism has been described as a neural deficit in predict

85 the protein tau prevents behavioral signs of autism in two mouse models simulating distinct causes of

86 iatric conditions, such as schizophrenia and autism, in the offspring.

87 ched for pathways previously associated with autism, including pathways of the immune system.

88 rmal sensory processing has been observed in autism, including superior visual motion discrimination,

89 In addition to autism, individuals with putative loss-of-function varia

90 et of high-risk infants later diagnosed with autism, infant theta EEG explained over 80% of the varia

91 A subset of autism-iPSC cortical neurons were RNA-sequenced to revea

92 Autism is a clinically heterogeneous neurodevelopmental

93 Autism is a common and complex neurologic disorder whose

94 Autism is a developmental condition currently identified

95 Autism is a heterogeneous collection of disorders with a

96 Autism is both a medical condition that gives rise to di

97 Autism is characterized by repetitive behaviors, impaire

98 The worldwide prevalence of autism is just under 1%, but estimates are higher in hig

99 hypothesis regarding the pathophysiology of autism is that an increase in the balance between neural

100 Maternal immune activation (MIA) induces autism-like behaviors in offspring, but how it interplay

101 tionally performed in a gene associated with autism-like symptoms and epileptic seizures for further

102 associated with severe mental disability and autism-like symptoms that affect girls during early chil

103 e one of core synaptic mechanisms underlying autism-like synaptic dysfunction and social behavioral a

104 show that prenatal oestrogens contribute to autism likelihood, extending the finding of elevated pre

105 and progesterone had the largest effects on autism likelihood.

106 f other prenatal steroids also contribute to autism likelihood.

107 N1/3 mutations, supported by assays with the autism-linked neuroligin-1-P89L mutant.

108 hierarchy of representational impairment in autism, making autism a natural behavioural and neurophy

109 a neural deficit in prediction, people with autism manifest low perceptual construal and are impaire

110 ue developmental differences associated with autism may be established at early prenatal stages.

111 phenotypes in autism models, suggesting that autism may be treated by correcting underlying deficits

112 the second, we show how the heterogeneity of autism mechanisms in humans can be broken down by functi

113 ntion-deficit/hyperactivity disorder (ADHD), autism, mild facial dysmorphism, craniosynostosis, and m

114 iated with improved behavioral phenotypes in autism models, suggesting that autism may be treated by

115 We define subgroups of autism mutations that perturb PFC neurogenesis and are c

116 In stark contrast, the risk for developing autism or developmental delay does not significantly cha

117 ense variant STB-R178Q, which is found in an autism patient and loses its adapter capacity for bindin

118 Remarkably, autism patient data reveal that individuals carrying sub

119 re features of ASD, referred to as the broad autism phenotype (BAP), have been documented repeatedly

120 iated decay (NMD) of splicing isoforms, with autism phenotypes usually triggered by relatively mild (

121 idence that prioritized de novo mutations in autism probands point to a small set of well-known ASD g

122 Finally, we found no relation between autism questionnaire scores and performance in our task,

123 diminished synaptic density and reduction of autism-related PSD-95 and Homer-1 in the hippocampus, wh

124 e data suggest that 16p11.2 DEL mice show an autism-relevant phenotype that becomes overt after an ac

125 gnocellular oxytocin pathway is required for autism-relevant social reward behavior.

126 ficantly enriched for ASD (Simons Foundation Autism Research Initiative), synaptic, and cell cycle ge

127 ude between adjacent stages of processing in autism: responses are attenuated in a primary visual are

128 cortex, including significant enrichments of autism risk and excitatory neuron genes.

129 ic properties of gene dosage with respect to autism risk and IQ loss.

130 Autism risk conferred by duplications is less influenced

131 However, levels of autism risk conferred by most rare CNVs remain unknown.

132 Autism risk estimates after prenatal exposure to any ant

133 identifies a convergence between the genetic autism risk factor Nlgn3, regulation of translation, and

134 two functional de novo variants in a pRE for autism risk gene SLC6A1, and using CRISPRa, demonstrated

135 n-regulated kinase 1 A] is a high-confidence autism risk gene that encodes a conserved kinase.

136 Finally, we demonstrate that autism risk genes are enriched in parvocellular compared

137 e sufficient evidence to be considered true "autism risk genes".

138 osome make the largest known contribution to autism risk, and correlate with paternal age at the time

139 ted by insular cortex dysfunction, including autism, schizophrenia, and fronto-temporal dementia.

140 ntal and neuropsychiatric disorders, such as autism, schizophrenia, social phobia, and others.

141 ng autism, and measures of traits related to autism (self-report measures of autistic traits, empathy

142 matter development between individuals whose autism severity increased, remained stable, or decreased

143 ratum, autistic individuals who increased in autism severity over time had a slower developmental tra

144 were associated with longitudinal changes in autism severity.

145 igh and low risk for autism from the British Autism Sibling Infant Study (BASIS).

146 ortical neurons were RNA-sequenced to reveal autism-specific signatures similar to postmortem brain s

147 ns of recent efforts to identify relatively "autism-specific" genes, efforts which focus on rare vari

148 with four major neuropsychiatric disorders: autism spectrum condition (ASC), bipolar disorder (BD),

149 development and behavior in 96 children with autism spectrum disorder (ASD) [45 with neurodevelopment

150 s investigated neuroradiological findings in autism spectrum disorder (ASD) and attention-deficit hyp

151 isorders and neurogenetic syndromes, such as autism spectrum disorder (ASD) and Dravet, Fragile X, Pr

152 nal week 10-as a key point of convergence in autism spectrum disorder (ASD) and epilepsy.

153 We ascertained autism spectrum disorder (ASD) and intellectual disabili

154 been noted consistently in individuals with autism spectrum disorder (ASD) and their families, inclu

155 riched for genes implicated in non-syndromic autism spectrum disorder (ASD) and were differentially e

156 Sleep patterns in children with autism spectrum disorder (ASD) appear to diverge from ty

157 al motion (BM) and its putative anomalies in autism spectrum disorder (ASD) are not completely clarif

158 s of sociality in individuals diagnosed with autism spectrum disorder (ASD) are standardly explained

159 studying a missense variant in a well-known autism spectrum disorder (ASD) causing gene SHANK3.

160 n in neural suppression in young adults with autism spectrum disorder (ASD) compared to neurotypical

161 Autism spectrum disorder (ASD) encompasses wide-ranging

162 ASD.SIGNIFICANCE STATEMENT Individuals with autism spectrum disorder (ASD) exhibit atypical attentio

163 e hypothesized link between gut bacteria and autism spectrum disorder (ASD) has been explored through

164 Autism spectrum disorder (ASD) has been hypothesized to

165 Autism spectrum disorder (ASD) has been mostly associate

166 r ex vivo histological postmortem studies of autism spectrum disorder (ASD) have shown gray matter mi

167 Autism spectrum disorder (ASD) is a brain disorder chara

168 Autism Spectrum Disorder (ASD) is a common neurodevelopm

169 Autism spectrum disorder (ASD) is a complex disorder wit

170 Autism spectrum disorder (ASD) is a constellation of neu

171 Autism spectrum disorder (ASD) is a multifactorial neuro

172 Autism spectrum disorder (ASD) is a neurodevelopmental c

173 Autism spectrum disorder (ASD) is a neurodevelopmental d

174 Autism spectrum disorder (ASD) is a phenotypically and g

175 Autism Spectrum Disorder (ASD) is characterized by early

176 Autism spectrum disorder (ASD) is characterized by neuro

177 Autism spectrum disorder (ASD) is consistently diagnosed

178 Autism spectrum disorder (ASD) is genetically heterogene

179 Autism spectrum disorder (ASD) is highly familial, with

180 Autism spectrum disorder (ASD) is often grouped with oth

181 nditions with etiological heterogeneity like Autism Spectrum Disorder (ASD) often pose a challenge fo

182 Children with autism spectrum disorder (ASD) or attention deficit hype

183 Some children with autism spectrum disorder (ASD) show behavioral improveme

184 aracterize their diagnoses, individuals with autism spectrum disorder (ASD) show enhanced performance

185 resent the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total

186 esents particular challenges for youths with autism spectrum disorder (ASD) who often struggle to beh

187 tations in PTEN account for ~10% of cases of autism spectrum disorder (ASD) with coincident macroceph

188 ability, is the leading monogenetic cause of autism spectrum disorder (ASD), a neurodevelopmental con

189 m birth (PTB), term low birth weight (TLBW), autism spectrum disorder (ASD), and asthma.

190 b are associated with X-linked macrocephaly, autism spectrum disorder (ASD), and intellectual disabil

191 key phenotypes in individuals diagnosed with autism spectrum disorder (ASD), and may potentially cont

192 ntion deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and obsessive-compulsive

193 s frequently disrupted in male subjects with autism spectrum disorder (ASD), but the functional conse

194 ifferent neuropsychiatric diseases including Autism Spectrum Disorder (ASD), intellectual disabilitie

195 oduplications of 16p11.2 are associated with autism spectrum disorder (ASD), intellectual disability

196 Despite rising prevalence of autism spectrum disorder (ASD), its brain bases remain u

197 he effects of oxytocin on social deficits in autism spectrum disorder (ASD), no large-scale study has

198 Autism spectrum disorder (ASD), obsessive-compulsive dis

199 SIB) is among the most dangerous concerns in autism spectrum disorder (ASD), often requiring detailed

200 Number Variants (CNVs) confer high risk for Autism Spectrum Disorder (ASD), schizophrenia (SZ), and

201 Both CNVs are associated with autism spectrum disorder (ASD), while the deletion confe

202 For a set of 13 autism spectrum disorder (ASD)-associated genes, we show

203 heterogeneity underlies the neurobiology of autism spectrum disorder (ASD).

204 pathway has become a point of convergence in autism spectrum disorder (ASD).

205 on mutations revealed by exome sequencing in autism spectrum disorder (ASD).

206 ders, including schizophrenia, epilepsy, and autism spectrum disorder (ASD).

207 reported in children but not in adults with autism spectrum disorder (ASD).

208 ed, confer risk that is largely specific for autism spectrum disorder (ASD).

209 eages and associated with phenotypes such as autism spectrum disorder (ASD).

210 riants to identify 102 genes associated with autism spectrum disorder (ASD).

211 obustness of brain networks in children with autism spectrum disorder (ASD).

212 mechanism in many brain disorders including autism spectrum disorder (ASD).

213 he most powerful windows into the biology of autism spectrum disorder (ASD).

214 rotransmission system has been implicated in autism spectrum disorder (ASD).

215 e Multisensory Integration (MSI) deficits in Autism Spectrum Disorder (ASD).

216 sfunction have been repeatedly implicated in autism spectrum disorder (ASD).

217 on deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD).

218 f the earliest observations in children with autism spectrum disorder (ASD).

219 renia (N = 696), bipolar disorder (N = 211), autism spectrum disorder (N = 126), or major depressive

220 unced for childhood-onset disorders, such as autism spectrum disorder and attention-deficit/hyperacti

221 from two related neuropsychiatric disorders-autism spectrum disorder and bipolar disorder-to show th

222 nalysis of de novo variants in patients with autism spectrum disorder and intellectual disability or

223 re repeatedly identified as risk factors for autism spectrum disorder and intellectual disability, bu

224 enuated by missense variants associated with autism spectrum disorder and intellectual disability.

225 tent of brain tissue in Alzheimer's disease, autism spectrum disorder and multiple sclerosis is signi

226 mer's disease, familial Alzheimer's disease, autism spectrum disorder and multiple sclerosis.

227 and exhibits reduced cortical expression in autism spectrum disorder and Rett Syndrome.

228 severe neuropsychiatric disorders including autism spectrum disorder and schizophrenia.

229 1.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia.

230 their formal diagnostic criteria, including autism spectrum disorder and schizophrenia.

231 A subset of children with autism spectrum disorder appear to show an improvement i

232 2-week clinical phase 2 study in adults with autism spectrum disorder balovaptan demonstrated improve

233 surrogates of social behavior in adults with autism spectrum disorder in an exploratory proof-of-mech

234 lted in a behavioral phenotype suggestive of autism spectrum disorder in the xCT(-/-) mice; in tests

235 Autism Spectrum Disorder is a neuropsychiatric condition

236 The etiology of autism spectrum disorder is poorly understood.

237 nd that schizophrenia, bipolar disorder, and autism spectrum disorder share similar white matter micr

238 pplication to heterogenous disorders such as autism spectrum disorder will require individual-subject

239 such as schizophrenia, Alzheimer's disease, autism spectrum disorder, and bipolar disorder.

240 s, including those associated with language, autism spectrum disorder, and drug addiction.

241 risk factor for global developmental delay, autism spectrum disorder, and epileptic encephalopathy.

242 risk factor for global developmental delay, autism spectrum disorder, and epileptic encephalopathy.

243 intellectual disability/developmental delay, autism spectrum disorder, and multiple medical comorbidi

244 disorders such as Phelan-McDermid syndrome, autism spectrum disorder, and schizophrenia.

245 athology of psychiatric disorders, including autism spectrum disorder, bipolar disorder, major depres

246 ntion deficit hyperactivity disorder (ADHD), autism spectrum disorder, bipolar disorder, major depres

247 e of neurodevelopmental disorders, including autism spectrum disorder, intellectual disability, and e

248 or depressive disorder, depressive symptoms, autism spectrum disorder, psychosis, and alcohol use dis

249 ric, and neurodegenerative disorders such as autism spectrum disorder, schizophrenia, and Huntington'

250 did not find a significant relationship with Autism Spectrum Disorder.

251 n group of participants, including some with autism spectrum disorder.

252 d candidate therapeutics in a mouse model of autism spectrum disorder.

253 57 subjects have a diagnosis of Autism Spectrum Disorder.

254 brain differences between men and women with autism spectrum disorder.

255 orders, particularly Tourette's disorder and autism spectrum disorder.

256 nction variants in TMPRSS9 are related to an autism spectrum disorder.

257 Autism spectrum disorders (ASD) are a group of neurodeve

258 Autism spectrum disorders (ASD) are a group of related n

259 Autism spectrum disorders (ASD) are strongly associated

260 Genes that are mutated in Autism Spectrum Disorders (ASD) can be classified broadl

261 antibodies contributes to the development of autism spectrum disorders (ASD) has been entertained for

262 Diagnosing autism spectrum disorders (ASD) is a complicated, time-c

263 on to identify the functional variants among autism spectrum disorders (ASD) patients.

264 adsorption, is one of the possible causes of autism spectrum disorders (ASD) predominantly in patient

265 Autism spectrum disorders (ASD) refer to a range of neur

266 and debilitating symptom in individuals with autism spectrum disorders (ASD), but the neural basis un

267 , including intellectual disability (ID) and autism spectrum disorders (ASD).

268 uli were presented to adult individuals with autism spectrum disorders (ASD; n = 24, mean age 23 year

269 Taok2-dependent ASDs.SIGNIFICANCE STATEMENT Autism spectrum disorders (ASDs) are linked to abnormal

270 Individuals with autism spectrum disorders (ASDs) imitate observed behavi

271 elopmental defects.SIGNIFICANCE STATEMENT In autism spectrum disorders (ASDs), prenatal infection or

272 ebellar dysfunction has been demonstrated in autism spectrum disorders (ASDs); however, the circuits

273 tions in Shank3 are strongly associated with autism spectrum disorders and neural circuit changes in

274 The recurrence risk for autism spectrum disorders is substantial, leading many f

275 ental challenge in developing treatments for autism spectrum disorders is the heterogeneity of the co

276 unity or neurodevelopmental issues including autism spectrum disorders.

277 neurons is associated with both epilepsy and autism spectrum disorders.

278 th social deficits typically associated with autism spectrum disorders.

279 communication is a common characteristic in autism spectrum disorders.

280 Furthermore, the genetic interaction with autism-spectrum genes, such as ASH1L, DYRK1A, MED13, and

281 ts were selected based on their score on the Autism-Spectrum Quotient (AQ), and AQ scores were assess

282 ted the level of autistic traits measured by Autism-spectrum Quotient (AQ).

283 In conditions such as minimally-verbal autism, standard assessments of language comprehension a

284 osome 16p11.2 dramatically increase risk for autism, suggesting that mice with an equivalent genetic

285 Autism susceptibility increases when deleting or duplica

286 When CNV effects on IQ are accounted for, autism susceptibility remains mostly unchanged for dupli

287 culus, autistic individuals who decreased in autism symptom severity also had greater increases in fr

288 tion to diagnosis, developmental stage, core autism symptomatology, and associated psychiatric sympto

289 tter development and longitudinal changes in autism symptoms is unknown.

290 MEF2C gene are linked to a syndromic form of autism termed MEF2C haploinsufficiency syndrome (MCHS).

291 tential of interneuron transplantation as an autism therapy.

292 the major source of support for people with autism throughout much of life and need to be considered

293 In the present study, we use autism to test this notion.

294 res and performance in our task, but do find autism trait related differences in learning rate parame

295 ith neurodevelopmental disability, including autism traits, inattention and hyperactivity, and ataxia

296 n could offer a novel cell-based approach to autism treatment while challenging assumptions that effe

297 NM excess in 17,426 NDD trios with 6,499 new autism trios.

298 f SHANK3 causes Phelan-McDermid syndrome and autism, whereas duplication of the same gene leads to SH

299 eveal a possible relationship between AD and autism, which are linked to the same environmental facto

300 generated from 9 unrelated individuals with autism without macrocephaly and with heterogeneous genet