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

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

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

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

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

7 etogenesis and some developmental aspects of fragile X syndrome.

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

9 altered trajectory of synaptic maturation in fragile X syndrome.

10 g intergenerational transmissions leading to fragile X syndrome.

11 mily relationships with children affected by fragile X syndrome.

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

13 ribute to maladaptive auditory processing in fragile X syndrome.

14 y contribute to dendritic pathophysiology in Fragile X syndrome.

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

16 ty in neuropsychiatric conditions, including fragile X syndrome.

17 ntellectual disability are Down syndrome and Fragile X syndrome.

18 may underlie perceptual deficits related to fragile X syndrome.

19 brain disorders including schizophrenia and fragile X syndrome.

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

21 organs that have been shown to be altered in Fragile X syndrome.

22 s of FXR2P or FMRP in vivo, a mouse model of fragile X syndrome.

23 aptic plasticity and cognition impairment in Fragile X syndrome.

24 their clinical implications for people with fragile X syndrome.

25 the treatment of individuals afflicted with Fragile X syndrome.

26 disorders, including Huntington disease and fragile X syndrome.

27 al and neuropsychiatric disorders, including fragile X syndrome.

28 mechanisms relevant to impaired cognition in fragile X syndrome.

29 butes to a form of human mental retardation, Fragile X Syndrome.

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

31 e and behavioural phenotypes associated with fragile X syndrome.

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

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

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

35 ysfunctional prefrontal cortex processing in fragile X syndrome.

36 l of the developmental neurological disorder Fragile X syndrome.

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

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

39 of intellectual disability and autism called fragile X syndrome.

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

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

42 Fragile X syndrome, a common cause of intellectual disab

43 Fragile X syndrome, a common cause of intellectual disab

44 Fragile X syndrome, a common cause of intellectual disab

45 Fragile X syndrome, a common form of inherited intellect

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

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

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

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

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

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

52 These fragile X syndrome-aberrant networks are significantly e

53 assical conditioning in 20 participants with Fragile X syndrome ages 17 to 77 years, and 20 age-match

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

55 atial and temporal attention in infants with fragile X syndrome and age-matched neurotypically develo

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

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

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

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

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

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

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

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

64 Treatment for fragile X syndrome and related autism spectrum disorders

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

82 kout (KO) mice recapitulate many features of Fragile X syndrome, but evidence for deficits in executi

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

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

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

86 The Fmr1 knock-out mouse, a model of fragile X syndrome, exhibits cognitive deficits and exag

87 these experiments revealed that infants with fragile X syndrome experience drastically reduced resolu

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

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

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

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

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

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

94 common form of inherited mental retardation, Fragile X syndrome (FraX).

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

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

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

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

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

100 FMRP loss of function causes Fragile X syndrome (FXS) and autistic features.

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

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

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

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

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

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

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

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

109 Fragile X syndrome (FXS) causes mental impairment and au

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

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

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

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

114 Fragile X syndrome (FXS) is a debilitating neurodevelopm

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

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

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

118 Fragile X syndrome (FXS) is a neurodevelopmental disease

119 Fragile X syndrome (FXS) is a neurodevelopmental disorde

120 Fragile X syndrome (FXS) is a neurodevelopmental disorde

121 Fragile X syndrome (FXS) is a neurodevelopmental disorde

122 Fragile X syndrome (FXS) is an inherited neurodevelopmen

123 Fragile X syndrome (FXS) is an inherited neurologic dise

124 Fragile X syndrome (FXS) is an undertreated neurodevelop

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

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

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

128 Fragile X syndrome (FXS) is caused by loss of the FMR1 g

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

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

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

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

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

134 The abnormal spine morphology found in fragile X syndrome (FXS) is suggestive of an error in th

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

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

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

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

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

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

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

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

143 Fragile X Syndrome (FXS) is the most common form of inhe

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

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

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

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

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

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

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

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

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

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

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 in

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

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

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

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

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

162 Fragile X syndrome (FXS) results from deficiency of frag

163 Fragile X syndrome (FXS) results in intellectual disabil

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

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

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

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

168 mental retardation protein (FMRP) results in fragile X syndrome (FXS), an inherited form of intellect

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

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

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

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

173 Fragile X syndrome (FXS), caused by loss of fragile X me

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

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

176 Fragile X syndrome (FXS), characterized by intellectual

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

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

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

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

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

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

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

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

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

186 Longitudinal neuroimaging investigation of fragile X syndrome (FXS), the most common cause of inher

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

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

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

190 GG repeats; full mutation) and methylated in fragile X syndrome (FXS), the most common form of inheri

191 Loss of FMRP causes Fragile X syndrome (FXS), the most common form of inheri

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

193 Fragile X syndrome (FXS), the most common genetic form o

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

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

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

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

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

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

200 al development can lead to autism, including fragile X syndrome (FXS), which is presently the most co

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

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

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

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

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

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

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

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

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

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

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

212 tion is implicated in the pathophysiology of fragile X syndrome (FXS).

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

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

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

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

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

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

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

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

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

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

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

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

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

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

227 0 syndromes, the most common of which is the fragile X syndrome, have been described.

228 processing constitute prominent symptoms of fragile X syndrome; however, little is known about how d

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

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

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

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

233 have implications for the pathophysiology of fragile X syndrome, in which plasticity is altered.

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

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

236 ical disabilities affecting individuals with fragile X syndrome irrespective of age, intelligence lev

237 Fragile X syndrome is a common cause of intellectual dis

238 the Drosophila model into the mouse model of Fragile X syndrome is an important advance, in that this

239 Fragile X syndrome is caused by the absence of functiona

240 Fragile X syndrome is caused by the loss of expression o

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

242 Fragile X syndrome is the leading single gene cause of i

243 Fragile X syndrome is the most common cause of inherited

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

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

246 Fragile X syndrome is the most common type of inherited

247 Fragile X Syndrome is the most prevalent genetic cause o

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

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

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

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

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

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

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

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

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

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

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

259 Coupled with the absence of FXTAS in fragile X syndrome patients, this suggests premutation-s

260 Individuals with fragile X syndrome present with a neurobehavioural pheno

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

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

263 bility that at least some of the symptoms of fragile X syndrome reflect impaired homeostatic plastici

264 Fragile X syndrome results from loss of FMR1 expression.

265 Fragile X syndrome results in widespread reductions in f

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

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

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

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

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

271 Rett syndrome, Neurofibromatosis Type 1 and Fragile X syndrome, the classical Drosophila genetic sys

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

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

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

275 Fragile X syndrome, the most common form of inherited me

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

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

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

279 Loss of FMR1 gene function results in fragile X syndrome, the most common heritable form of in

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

281 ome disorders of neurodevelopment, including fragile X syndrome, the most common inherited form of in

282 n (FMRP), an RNA-binding protein, results in Fragile X syndrome, the most common inherited form of in

283 Fragile X syndrome, the most common known monogenic caus

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

285 Fragile X syndrome, the most commonly known genetic caus

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

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

288 istent activity states in the mouse model of fragile X syndrome--the Fmr1 knock-out (KO).

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

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

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

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

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

294 2 (both linked to FMR1, which is involved in fragile X syndrome), VIP (involved in social-cognitive d

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

296 ted in several psychiatric disorders such as Fragile X syndrome, where neurons show a high density of

297 nsion is the primary pathogenic signature of fragile X syndrome, which is the most common form of inh

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

299 Treatment of a Drosophila model of Fragile X syndrome with metabotropic glutamate receptor

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