ライフサイエンスコーパス: fragile X syndrome

1 n previously used in other ASD models (i.e., fragile X syndrome).

2 lated in autism spectrum disorder as well as fragile X syndrome.

3 nal regulation of a distinct set of genes in fragile X syndrome.

4 iology in 16p11.2 microdeletion syndrome and fragile X syndrome.

5 ysfunctional prefrontal cortex processing in fragile X syndrome.

6 l of the developmental neurological disorder Fragile X syndrome.

7 severative grooming states in a rat model of fragile X syndrome.

8 s primary contributors to the development of fragile X syndrome.

9 tions, including nociception, addiction, and fragile X syndrome.

10 of intellectual disability and autism called fragile X syndrome.

11 ies, including addiction, schizophrenia, and fragile X syndrome.

12 ressing neurons and in a Drosophila model of fragile X syndrome.

13 studies for the treatment of depression and fragile X syndrome.

14 ctrum disorder (ASD) associated with TSC and fragile X syndrome.

15 retardation 1 (Fmr1) knockout (KO) model of fragile X syndrome.

16 etogenesis and some developmental aspects of fragile X syndrome.

17 lts in silencing of the FMR1 gene and causes fragile X syndrome.

18 altered trajectory of synaptic maturation in fragile X syndrome.

19 g intergenerational transmissions leading to fragile X syndrome.

20 mily relationships with children affected by fragile X syndrome.

21 y regulates translation and which is lost in fragile X syndrome.

22 ribute to maladaptive auditory processing in fragile X syndrome.

23 y contribute to dendritic pathophysiology in Fragile X syndrome.

24 ty in neuropsychiatric conditions, including fragile X syndrome.

25 ntellectual disability are Down syndrome and Fragile X syndrome.

26 may underlie perceptual deficits related to fragile X syndrome.

27 RNA-binding protein whose deficiency causes fragile X syndrome.

28 fragile X mental retardation protein causes fragile X syndrome.

29 between FMRP and HTT in the pathogenesis of fragile X syndrome.

30 phase 2 clinical trials for the treatment of Fragile X Syndrome.

31 f many neurodevelopmental diseases including fragile X syndrome.

32 e and behavioural phenotypes associated with fragile X syndrome.

33 cific channelopathies in a mouse of model of Fragile X syndrome.

34 ated in autism spectrum disorders, including Fragile X syndrome.

35 brain disorders including schizophrenia and fragile X syndrome.

36 al and neuropsychiatric disorders, including fragile X syndrome.

37 omised in a severe monogenic form of autism, Fragile X Syndrome.

38 uit and likely represents a major feature of fragile X-syndrome.

39 region, and monogenic causes, as in Rett and fragile-X syndromes.

40 Fragile X syndrome, a common cause of intellectual disab

41 Fragile X syndrome, a common cause of intellectual disab

42 Fragile X syndrome, a common cause of intellectual disab

43 Fragile X syndrome, a common form of inherited intellect

44 Fragile X syndrome, a common form of inherited mental re

45 l system habituation to face and eye gaze in fragile X syndrome, a disorder characterized by eye-gaze

46 sally associated with the pathophysiology of fragile X syndrome, a leading inherited cause of intelle

47 This form of plasticity is deregulated in Fragile X Syndrome, a monogenic form of autism in humans

48 (FMRP) is well-studied, as its loss leads to fragile X syndrome, a neurodevelopmental disorder which

49 comprehensive manner, we begin by selecting fragile X syndrome, a neurogenetic disease with cognitiv

50 velopment in the cortex are key hallmarks of fragile X syndrome, a prevalent neurodevelopmental disor

51 cation and is the major causative factor for fragile X syndrome, a sex-linked disorder associated wit

52 These fragile X syndrome-aberrant networks are significantly e

53 or fly models of Alzheimer's disease and the Fragile X syndrome, allowing applications such as geneti

54 f several neurological conditions, including Fragile X syndrome and Alzheimer's disease.

55 everal individuals clinically diagnosed with fragile X syndrome and autism spectrum disorder.

56 t of the neocortex, an area affected in both fragile X syndrome and autism spectrum disorder.

57 n this study, we focused on a mouse model of Fragile X syndrome and demonstrate how dendritic spines

58 lem in the Fmr1-knockout (KO) mouse model of Fragile X syndrome and describe potentially treatable un

59 DSCR1 is a novel regulator of FMRP and that Fragile X syndrome and Down syndrome may share disturban

60 ts with FMRP, a protein that is deficient in fragile X syndrome and is known to regulate the translat

61 Recent evidence suggests that Fragile X syndrome and other types of autism are associa

62 g the pathogenic mechanisms of Hrp38-related Fragile X syndrome and PARP1-related retinal degeneratio

63 ter microstructure has been reported in both fragile X syndrome and psychiatric disorders, we looked

64 rcuit hyperexcitability are core features of fragile X syndrome and related autism spectrum disorder

65 Treatment for fragile X syndrome and related autism spectrum disorders

66 hysiology of Autism Spectrum Disorder (ASD), Fragile X Syndrome and Tuberous Sclerosis, the role of o

67 BPN14770 may be useful for the treatment of fragile-X syndrome and other disorders with decreased cA

68 Specifically, Fmr1 (fragile X syndrome) and Ube3a (Angelman syndrome) are tr

69 e expansion disorders (Friedreich ataxia and fragile X syndrome), and cancer.

70 tients with distinct syndromic forms of ASD, fragile X syndrome, and 15q duplication syndrome.

71 ced repetitive behaviors in a mouse model of Fragile X syndrome, and Arbaclofen improved some clinica

72 evelopmental disorders, Rett syndrome (RTT), fragile X syndrome, and CDKL5 syndrome, also affects fem

73 erapeutic approaches for spinal cord injury, Fragile X syndrome, and genetic learning deficits more g

74 ic diseases, including Huntington's Disease, Fragile X Syndrome, and hereditary ataxias.

75 s play a role in diseases, such as cancer or fragile X syndrome, and may also occur as a function of

76 enes involved in Tuberous Sclerosis Complex, Fragile X syndrome, Angelman syndrome and several synapt

77 Tuberous sclerosis complex and fragile X syndrome are genetic diseases characterized by

78 in myotonic dystrophy, and (CGG)n repeats in fragile X syndrome, are also subject to double-strand br

79 pression) relevant to the pathophysiology of fragile X syndrome as well as neural correlates of cogni

80 neurodevelopment disorders such as Rett and fragile X syndromes, as well as complex behavioral disor

81 with a variety of neural diseases, including Fragile X syndrome, autism, and intellectual disability.

82 in multiple neuropsychiatric disorders like fragile X syndrome, autism, and others.

83 nterest as a drug target in the treatment of fragile X syndrome, autism, depression, anxiety, addicti

84 normal development and in disorders such as Fragile X syndrome, autism, epilepsy, addiction, anxiety

85 otein (FMRP), the protein that is lacking in fragile X syndrome, binds neuroligin-1 and -3 mRNA.

86 aggerated mGluR-dependent LTD is featured in fragile X syndrome, but the mechanisms that regulate mGl

87 One classic example is Fragile X syndrome caused by loss of an RNA-binding tran

88 tion patterns at specific genomic regions in fragile X syndrome cells, and identified dysregulated ge

89 al disorders, including Alzheimer's disease, fragile X syndrome, Down's syndrome, autism, epilepsy an

90 suggests that mutant FMRP linked to Fragile-X syndrome elevates the inner mitochondrial memb

91 tterns of RNA-editing alterations in ASD and Fragile X syndrome, establishing this as a molecular lin

92 a comparison group of 25 individuals without fragile X syndrome (females, N=12) matched for general c

93 (ages 15-25 years) were 30 individuals with fragile X syndrome (females, N=14) and a comparison grou

94 The Fmr1 knock-out mouse model of fragile X syndrome (Fmr1(-/y)) has an epileptogenic phen

95 mGluR-LTD) are altered in the mouse model of fragile X syndrome, Fmr1 knock-out (KO) mice.

96 cess that is deficient in the mouse model of Fragile X Syndrome, Fmr1 KO.

97 ontrast the cognitive-behavioral features of fragile X syndrome (FraX) and Williams syndrome and to r

98 expansions, including those associated with fragile X syndrome, Friedreich's ataxia, and Huntington'

99 here that in mouse models PFC dysfunction in Fragile X Syndrome (FX) can be attributed to the continu

100 Fragile X Syndrome (FX) is generally considered a develo

101 ptors (mGlu1/5) is a core pathophysiology of fragile X syndrome (FX); however, the differentially tra

102 ICANCE STATEMENT Sensory hypersensitivity in fragile X syndrome (FXS) and autism patients significant

103 lopment of several human disorders including Fragile X Syndrome (FXS) and autism.

104 genetic forms of intellectual disability are Fragile X syndrome (FXS) and Down syndrome (DS).

105 is hypothesized to underlie the etiology of fragile X syndrome (FXS) and related autistic disorders.

106 oss and abnormal expression of FMRP occur in fragile X syndrome (FXS) and some forms of autism spectr

107 Cognitive deficits in fragile X syndrome (FXS) are attributed to molecular abn

108 Many neuropsychiatric symptoms of fragile X syndrome (FXS) are believed to be a consequenc

109 mark phenotypes reported in individuals with fragile X syndrome (FXS) are deficits in attentional fun

110 Autism spectrum disorder (ASD) and Fragile X syndrome (FXS) are developmental disorders.

111 e behavioral and anatomical deficits seen in fragile X syndrome (FXS) are widely believed to result f

112 ategies.SIGNIFICANCE STATEMENT Patients with fragile X syndrome (FXS) exhibit signs of neuronal and c

113 ontributing to a "leak metabolism." In human Fragile X syndrome (FXS) fibroblasts and in Fmr1(-/y) mo

114 Carriers of fragile X syndrome (FXS) have FMR1 alleles, called premu

115 e X mental retardation protein (FMRP) causes fragile X syndrome (FXS) have largely focused on neurons

116 Fragile X syndrome (FXS) is a common form of inherited i

117 Fragile X syndrome (FXS) is a common form of mental disa

118 Fragile X syndrome (FXS) is a debilitating neurodevelopm

119 Fragile X syndrome (FXS) is a genetic cause of intellect

120 Fragile X syndrome (FXS) is a leading genetic cause of i

121 Fragile X syndrome (FXS) is a multi-organ disease that l

122 Fragile X syndrome (FXS) is a neurodevelopmental disease

123 Fragile X syndrome (FXS) is a neurodevelopmental disorde

124 Fragile X syndrome (FXS) is a neurodevelopmental disorde

125 Fragile X syndrome (FXS) is a neurodevelopmental disorde

126 Fragile X syndrome (FXS) is an inherited intellectual im

127 Fragile X syndrome (FXS) is an inherited neurodevelopmen

128 Fragile X syndrome (FXS) is an undertreated neurodevelop

129 Fragile X syndrome (FXS) is an X chromosome-linked disea

130 Fragile X syndrome (FXS) is an X-linked neurogenetic dis

131 Fragile X syndrome (FXS) is caused by a CGG repeat expan

132 Fragile X syndrome (FXS) is caused by CGG repeat expansi

133 Fragile X syndrome (FXS) is caused by inactivation of th

134 Fragile X syndrome (FXS) is caused by the absence of the

135 Fragile X syndrome (FXS) is caused by the loss of the fr

136 Fragile X syndrome (FXS) is characteristically displayed

137 In humans, Fragile X Syndrome (FXS) is characterized by enhanced fe

138 Fragile X syndrome (FXS) is characterized by sensory hyp

139 he inherited intellectual impairment disease fragile X syndrome (FXS) is neuronal hyperexcitability,

140 Fragile X syndrome (FXS) is the leading cause of both in

141 The Fragile X syndrome (FXS) is the leading form of inherite

142 Fragile X syndrome (FXS) is the leading inherited cause

143 Fragile X syndrome (FXS) is the leading known inherited

144 Fragile X syndrome (FXS) is the leading monogenic cause

145 Fragile X syndrome (FXS) is the most common form of inhe

146 Fragile X syndrome (FXS) is the most common form of inhe

147 Fragile X syndrome (FXS) is the most common form of inhe

148 Fragile X syndrome (FXS) is the most common form of inhe

149 Fragile X syndrome (FXS) is the most common form of inhe

150 Fragile X syndrome (FXS) is the most common form of inhe

151 Fragile X syndrome (FXS) is the most common genetic caus

152 Fragile X syndrome (FXS) is the most common heritable ca

153 ssing deficits in FXS.SIGNIFICANCE STATEMENT Fragile X Syndrome (FXS) is the most common inheritable

154 Fragile X syndrome (FXS) is the most common inherited fo

155 Fragile X syndrome (FXS) is the most common inherited fo

156 Fragile X Syndrome (FXS) is the most common inherited fo

157 Fragile X syndrome (FXS) is the most common inherited fo

158 Fragile X syndrome (FXS) is the most common inherited in

159 Fragile X syndrome (FXS) is the most common inherited ne

160 Fragile X syndrome (FXS) is the most frequent form of in

161 elevated basal neuronal protein synthesis in fragile X syndrome (FXS) is unclear.

162 specially in non-neuron glial cells, induces fragile X syndrome (FXS) phenotypes has just begun to be

163 Fragile X syndrome (FXS) results from a genetic mutation

164 Fragile X syndrome (FXS) results from a repeat expansion

165 Fragile X syndrome (FXS) results in intellectual disabil

166 sed diagnostic yield from 1.60% to 1.84% for fragile X syndrome (FXS) using a pooling approach.

167 tion 1 (Fmr1) knockout (KO) mice, a model of Fragile X Syndrome (FXS) with abrogated expression of th

168 ntagious itch behavior in the mouse model of fragile X syndrome (FXS), a common form of inherited int

169 Fragile X Syndrome (FXS), a common inheritable form of i

170 Fragile X syndrome (FXS), a common inherited form of int

171 le X mental retardation protein (FMRP) cause fragile X syndrome (FXS), a genetic disorder characteriz

172 Fragile X syndrome (FXS), a heritable intellectual and a

173 ental retardation protein (FMRP) loss causes Fragile X syndrome (FXS), a major disorder characterized

174 Fragile X syndrome (FXS), an X-chromosome linked intelle

175 autism spectrum disorders (ASDs), including fragile X syndrome (FXS), and frequently leads to tactil

176 f psychiatric diseases including depression, fragile X syndrome (FXS), anxiety, obsessive-compulsive

177 tructure and function is a major hallmark of fragile X syndrome (FXS), autism spectrum disorders (ASD

178 Loss of FMRP causes fragile X syndrome (FXS), but the physiological function

179 Fragile X syndrome (FXS), caused by a trinucleotide expa

180 Fragile X syndrome (FXS), caused by loss of the Fragile

181 Fragile X syndrome (FXS), caused by the loss of function

182 Fragile X syndrome (FXS), characterized by intellectual

183 Fragile X syndrome (FXS), due to mutations of the FMR1 g

184 knock-out (ko) mice display key features of fragile X syndrome (FXS), including delayed dendritic sp

185 ty (ID) and autism spectrum disorders (ASD), Fragile X syndrome (FXS), is caused by loss of the mRNA-

186 trum disorder (ASD), including in those with fragile X syndrome (FXS), one of the most common genetic

187 In fragile X syndrome (FXS), the boundary is lost, and the

188 othesize that this mechanism is defective in fragile X syndrome (FXS), the leading heritable cause of

189 Fragile X syndrome (FXS), the leading monogenic cause of

190 ile X mental retardation 1 (FMR1) gene cause fragile X syndrome (FXS), the leading single-gene form o

191 Fragile X syndrome (FXS), the most common cause of inher

192 Loss of the RNA binding protein FMRP causes Fragile X Syndrome (FXS), the most common cause of inher

193 Fragile X syndrome (FXS), the most common form of inheri

194 Fragile X syndrome (FXS), the most common form of inheri

195 Fragile X syndrome (FXS), the most common form of inheri

196 X mental retardation protein (FMRP) leads to Fragile X syndrome (FXS), the most common form of inheri

197 get for diseases affecting synapses, such as fragile X syndrome (FXS), the most common heritable auti

198 FMR1 gene silencing results in fragile X syndrome (FXS), the most common heritable caus

199 Fragile X syndrome (FXS), the most common heritable form

200 mental retardation protein (FMRP) linked to fragile X syndrome (FXS), the most common heritable ment

201 llectual disability and other afflictions of fragile X syndrome (FXS), the most common inherited caus

202 e X mental retardation protein (FMRP) causes fragile X syndrome (FXS), the most common inherited inte

203 Fragile X syndrome (FXS), the most common monogenetic ca

204 n-enriched RNA-BP, whose deficiency leads to Fragile X Syndrome (FXS), the most prevalent inherited i

205 primary somatosensory cortex (S1) neurons in Fragile X syndrome (FXS), which is a common inherited ca

206 One such condition is fragile X syndrome (FXS), which is considered to be caus

207 lts in a spectrum of cognitive deficits, the fragile X syndrome (FXS), while aging individuals with d

208 Channelopathies are implicated in Fragile X syndrome (FXS), yet the dysfunction of a parti

209 e X mental retardation protein (FMRP) causes fragile X syndrome (FXS), yet the mechanisms underlying

210 ility is one of the major characteristics of fragile X syndrome (FXS), yet the molecular mechanisms o

211 m, and its absence or mutations leads to the Fragile X syndrome (FXS).

212 ain disorders such as Down syndrome (DS) and fragile X syndrome (FXS).

213 esis that it is impaired in a mouse model of fragile X syndrome (FXS).

214 i Syndrome (PWS), Williams Syndrome (WS) and Fragile X syndrome (FXS).

215 tardation protein (FMRP), which is absent in Fragile X Syndrome (FXS).

216 oms of neuropsychiatric disorders, including Fragile X syndrome (FXS).

217 tory cortical processing in a mouse model of Fragile X Syndrome (FXS).

218 synthesis at synapses is dysregulated in the Fragile X syndrome (FXS).

219 fective treatment is currently available for fragile X syndrome (FXS).

220 ual disability and autism spectrum disorder, fragile X syndrome (FXS).

221 ture of neurodevelopmental disorders such as Fragile X Syndrome (FXS).

222 and tactile perception are core problems in fragile X syndrome (FXS).

223 tual deficits and sensory dysfunction in the fragile X syndrome (FXS).

224 dult Fmr1 knock-out mice, the mouse model of fragile X syndrome (FXS).

225 ing causes of abnormal sensory processing in Fragile X syndrome (FXS).

226 receptor might hold therapeutic benefits in Fragile X syndrome (FXS).

227 f the prevalent symptoms in individuals with Fragile X syndrome (FXS).

228 rited form of mental retardation and autism, fragile X syndrome (FXS).

229 on heritable autism spectrum disorder (ASD), fragile X syndrome (FXS).

230 th distinct molecular pathologies, including fragile X syndrome (FXS; full mutation range, greater th

231 Fragile X syndrome (FXS; MIM #300624), a well-recognized

232 nce for differences in PPI in a rat model of Fragile-X Syndrome (FXS) compared with wild-type control

233 Fragile-X syndrome (FXS) patients display intellectual d

234 We report in a mouse model of fragile X syndrome, glutamate uncaging onto individual d

235 ation (and significant sensitization) in the fragile X syndrome group was found in the cingulate gyru

236 Importantly, in animal models of fragile X syndrome, group I mGluR activity is abnormally

237 that occurs in a mouse model (Fmr1(-/-)) of fragile X syndrome, group I mGluR-activated translation

238 gh incidence of autistic behaviours, such as fragile X syndrome, has the potential to identify genes

239 Studies performed on animal models of fragile X syndrome have revealed links between modificat

240 0 syndromes, the most common of which is the fragile X syndrome, have been described.

241 entiated to dorsal forebrain cell fates, our fragile X syndrome human pluripotent stem cell lines exh

242 analysed the early stages of neurogenesis in fragile X syndrome human pluripotent stem cells.

243 expansions in diseases such as hemophilia A, fragile X syndrome, Hunter syndrome, and Friedreich's at

244 omeres, and trinucleotide repeats (linked to fragile X syndrome, Huntington disease, etc.), account f

245 ntal Retardation Protein, which is absent in Fragile X syndrome, in adult CA1 and L5 PFC neurons regu

246 isturbed in the Fmr1 knock-out (KO) model of fragile X syndrome, in which stabilization of both actin

247 nd circuit hyperexcitability associated with Fragile X syndrome, including patients with complete del

248 Fragile X syndrome is a common cause of intellectual dis

249 Fragile X syndrome is a neurodevelopmental disorder asso

250 Fragile X syndrome is caused by the loss of fragile X me

251 Fragile X syndrome is rare but a prominent cause of inte

252 Fragile X syndrome is the most common cause of inherited

253 Fragile X syndrome is the most common form of inherited

254 ABSTRACT: Fragile X syndrome is the most common form of inherited

255 This finding is of high relevance because Fragile X syndrome is the most common monogenetic cause

256 tism spectrum disorder patients, among which fragile X syndrome is the primary monogenic cause.

257 ause amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read whole-

258 esis has been implicated in the pathology of fragile X syndrome, it remains unknown whether group I m

259 man's syndrome (34%), CHARGE syndrome (30%), fragile X syndrome (male individuals only 30%; mixed sex

260 ndicating that therapeutic interventions for fragile X syndrome may benefit patients with SYNGAP1 hap

261 The Drosophila Fragile X Syndrome model has long generated insights int

262 zation therapy, which may help patients with fragile X syndrome modulate anxiety and arousal associat

263 to mGluR5 dysfunction and phenotypes in the fragile X syndrome mouse model, Fmr1 knockout (Fmr1(-/y)

264 tion has been most well characterized in the fragile X syndrome mouse model, the Fmr1 knock-out (KO)

265 Four participants (males, N=4/4; fragile X syndrome, N=3) were excluded because of excess

266 e revealed maladaptive auditory responses in fragile X syndrome patients and Fmr1 KO mice, suggesting

267 revious white matter differences reported in fragile X syndrome patients, suggesting common pathogeni

268 rved similar results in neurons derived from Fragile X Syndrome patients.

269 We also identify the fragile X syndrome protein FMRP as a substrate of Cdh1-A

270 ere also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02).

271 Fragile X syndrome results from a loss of the RNA-bindin

272 Fragile X syndrome results from loss of FMR1 expression.

273 Fragile X syndrome results in widespread reductions in f

274 of disorders where it is disrupted, such as Fragile X syndrome, Rett syndrome, epilepsy, major depre

275 ith neurological diseases, including FMRP in fragile X syndrome; TDP-43, FUS (fused in sarcoma), angi

276 ulated gene- and network-level correlates of fragile X syndrome that are associated with developmenta

277 We then describe what we have learned from fragile X syndrome that may be applicable to other psych

278 In fragile X syndrome, the absence of fragile X mental reta

279 In the mouse model of Fragile X syndrome, the Fmr1 knock-out, local excitation

280 Among these disorders is fragile X syndrome, the most common cause of inherited i

281 Fragile X syndrome, the most common form of heritable me

282 Loss of function of FMRP causes fragile X syndrome, the most common form of inherited in

283 In fragile X syndrome, the most common genetic form of ment

284 This results in Fragile X syndrome, the most common heritable cause of i

285 Fragile X syndrome, the most common heritable form of co

286 ity has been implicated in neuropathology of fragile X syndrome, the most common inheritable cause of

287 Fragile X syndrome, the most common known monogenic caus

288 phosphorylation in Fmr1 KO mice, a model of fragile X syndrome, the most common monogenetic cause of

289 Fragile X syndrome, the most commonly known genetic caus

290 ucleotide repeats, which are associated with fragile X syndrome, the most widespread inherited cause

291 rinucleotide repeats has been shown to cause fragile-X syndrome, the most widespread inherited cause

292 s known about their functional properties in Fragile X syndrome: the most common form of inherited co

293 he impairment in spinogenesis, a hallmark in Fragile X syndrome, thereby linking the regulation of ac

294 elopmental and psychiatric disorders such as fragile X syndrome, this work uncovers a unique translat

295 rtex of Fmr1 knock-out (KO) mice, a model of Fragile-X Syndrome, to test the E/I imbalance theory.

296 identified as a phenotypic feature common to fragile X syndrome, tuberous sclerosis complex 1 and 2,

297 2 (both linked to FMR1, which is involved in fragile X syndrome), VIP (involved in social-cognitive d

298 Using a new rat model of Fragile X Syndrome, we report that Fmr1 knockout (KO) ra

299 oid signalosome as a molecular substrate for fragile X syndrome, which might be targeted by therapy.

300 onic dystrophy, spinal muscular atrophy, and fragile X syndrome, with broader implications for other