ライフサイエンスコーパス: X syndrome

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

2 autism spectrum disorder as well as fragile X syndrome.

3 lation of a distinct set of genes in fragile X syndrome.

4 n 16p11.2 microdeletion syndrome and fragile X syndrome.

5 onal prefrontal cortex processing in fragile X syndrome.

6 developmental neurological disorder Fragile X syndrome.

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

8 y contributors to the development of fragile X syndrome.

9 ncluding nociception, addiction, and fragile X syndrome.

10 lectual disability and autism called fragile X syndrome.

11 luding addiction, schizophrenia, and fragile X syndrome.

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

13 for the treatment of depression and fragile X syndrome.

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

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

16 is and some developmental aspects of fragile X syndrome.

17 ilencing of the FMR1 gene and causes fragile X syndrome.

18 trajectory of synaptic maturation in fragile X syndrome.

19 enerational transmissions leading to fragile X syndrome.

20 ationships with children affected by fragile X syndrome.

21 tes translation and which is lost in fragile X syndrome.

22 o maladaptive auditory processing in fragile X syndrome.

23 bute to dendritic pathophysiology in Fragile X syndrome.

24 uropsychiatric conditions, including fragile X syndrome.

25 ual disability are Down syndrome and Fragile X syndrome.

26 erlie perceptual deficits related to fragile X syndrome.

27 X mental retardation protein causes fragile X syndrome.

28 FMRP and HTT in the pathogenesis of fragile X syndrome.

29 clinical trials for the treatment of Fragile X Syndrome.

30 eurodevelopmental diseases including fragile X syndrome.

31 havioural phenotypes associated with fragile X syndrome.

32 annelopathies in a mouse of model of Fragile X syndrome.

33 autism spectrum disorders, including Fragile X syndrome.

34 isorders including schizophrenia and fragile X syndrome.

35 europsychiatric disorders, including fragile X syndrome.

36 n a severe monogenic form of autism, Fragile X Syndrome.

37 likely represents a major feature of fragile X-syndrome.

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

39 Fragile X syndrome, a common cause of intellectual disability an

40 Fragile X syndrome, a common cause of intellectual disability an

41 Fragile X syndrome, a common cause of intellectual disability an

42 Fragile X syndrome, a common form of inherited intellectual disa

43 Fragile X syndrome, a common form of inherited mental retardatio

44 habituation to face and eye gaze in fragile X syndrome, a disorder characterized by eye-gaze aversio

45 sociated with the pathophysiology of fragile X syndrome, a leading inherited cause of intellectual di

46 form of plasticity is deregulated in Fragile X Syndrome, a monogenic form of autism in humans, and un

47 s well-studied, as its loss leads to fragile X syndrome, a neurodevelopmental disorder which is the m

48 ensive manner, we begin by selecting fragile X syndrome, a neurogenetic disease with cognitive-behavi

49 t in the cortex are key hallmarks of fragile X syndrome, a prevalent neurodevelopmental disorder that

50 nd is the major causative factor for fragile X syndrome, a sex-linked disorder associated with cognit

51 These fragile X syndrome-aberrant networks are significantly enriched

52 odels of Alzheimer's disease and the Fragile X syndrome, allowing applications such as genetic or dru

53 l neurological conditions, including Fragile X syndrome and Alzheimer's disease.

54 ndividuals clinically diagnosed with fragile X syndrome and autism spectrum disorder.

55 neocortex, an area affected in both fragile X syndrome and autism spectrum disorder.

56 tudy, we focused on a mouse model of Fragile X syndrome and demonstrate how dendritic spines are inse

57 he Fmr1-knockout (KO) mouse model of Fragile X syndrome and describe potentially treatable underlying

58 s a novel regulator of FMRP and that Fragile X syndrome and Down syndrome may share disturbances in c

59 FMRP, a protein that is deficient in fragile X syndrome and is known to regulate the translation of m

60 0 may be useful for the treatment of fragile-X syndrome and other disorders with decreased cAMP signa

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

62 thogenic mechanisms of Hrp38-related Fragile X syndrome and PARP1-related retinal degeneration diseas

63 ostructure has been reported in both fragile X syndrome and psychiatric disorders, we looked at the i

64 perexcitability are core features of fragile X syndrome and related autism spectrum disorder models.

65 Treatment for fragile X syndrome and related autism spectrum disorders has lon

66 y of Autism Spectrum Disorder (ASD), Fragile X Syndrome and Tuberous Sclerosis, the role of other mGl

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

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

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

70 titive behaviors in a mouse model of Fragile X syndrome, and Arbaclofen improved some clinical sympto

71 ntal disorders, Rett syndrome (RTT), fragile X syndrome, and CDKL5 syndrome, also affects females.

72 c approaches for spinal cord injury, Fragile X syndrome, and genetic learning deficits more generally

73 ses, including Huntington's Disease, Fragile X Syndrome, and hereditary ataxias.

74 role in diseases, such as cancer or fragile X syndrome, and may also occur as a function of aging or

75 olved in Tuberous Sclerosis Complex, Fragile X syndrome, Angelman syndrome and several synaptic ASD c

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

77 ) relevant to the pathophysiology of fragile X syndrome as well as neural correlates of cognitive-beh

78 velopment disorders such as Rett and fragile X syndromes, as well as complex behavioral disorders inc

79 ariety of neural diseases, including Fragile X syndrome, autism, and intellectual disability.

80 iple neuropsychiatric disorders like fragile X syndrome, autism, and others.

81 as a drug target in the treatment of fragile X syndrome, autism, depression, anxiety, addiction and m

82 development and in disorders such as Fragile X syndrome, autism, epilepsy, addiction, anxiety, schizo

83 MRP), the protein that is lacking in fragile X syndrome, binds neuroligin-1 and -3 mRNA.

84 d mGluR-dependent LTD is featured in fragile X syndrome, but the mechanisms that regulate mGluR-LTD r

85 One classic example is Fragile X syndrome caused by loss of an RNA-binding translation

86 terns at specific genomic regions in fragile X syndrome cells, and identified dysregulated gene- and

87 , Meriones shawi (M.sh)-developing metabolic X syndrome, diabetes and possessing a visual streak simi

88 ders, including Alzheimer's disease, fragile X syndrome, Down's syndrome, autism, epilepsy and Parkin

89 suggests that mutant FMRP linked to Fragile-X syndrome elevates the inner mitochondrial membrane pro

90 f RNA-editing alterations in ASD and Fragile X syndrome, establishing this as a molecular link betwee

91 ison group of 25 individuals without fragile X syndrome (females, N=12) matched for general cognitive

92 5-25 years) were 30 individuals with fragile X syndrome (females, N=14) and a comparison group of 25

93 The Fmr1 knock-out mouse model of fragile X syndrome (Fmr1(-/y)) has an epileptogenic phenotype th

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

95 t is deficient in the mouse model of Fragile X Syndrome, Fmr1 KO.

96 the cognitive-behavioral features of fragile X syndrome (FraX) and Williams syndrome and to review th

97 ons, including those associated with fragile X syndrome, Friedreich's ataxia, and Huntington's diseas

98 t in mouse models PFC dysfunction in Fragile X Syndrome (FX) can be attributed to the continued absen

99 Fragile X Syndrome (FX) is generally considered a developmental

100 Glu1/5) is a core pathophysiology of fragile X syndrome (FX); however, the differentially translating

101 TATEMENT Sensory hypersensitivity in fragile X syndrome (FXS) and autism patients significantly inter

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

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

104 thesized to underlie the etiology of fragile X syndrome (FXS) and related autistic disorders.

105 abnormal expression of FMRP occur in fragile X syndrome (FXS) and some forms of autism spectrum disor

106 Cognitive deficits in fragile X syndrome (FXS) are attributed to molecular abnormaliti

107 Many neuropsychiatric symptoms of fragile X syndrome (FXS) are believed to be a consequence of alt

108 notypes reported in individuals with fragile X syndrome (FXS) are deficits in attentional function, i

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

110 oral and anatomical deficits seen in fragile X syndrome (FXS) are widely believed to result from imba

111 differences in PPI in a rat model of Fragile-X Syndrome (FXS) compared with wild-type controls.

112 SIGNIFICANCE STATEMENT Patients with fragile X syndrome (FXS) exhibit signs of neuronal and circuit h

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

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

115 al retardation protein (FMRP) causes fragile X syndrome (FXS) have largely focused on neurons; whethe

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

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

118 Fragile X syndrome (FXS) is a debilitating neurodevelopmental di

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

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

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

122 Fragile X syndrome (FXS) is a neurodevelopmental disease.

123 Fragile X syndrome (FXS) is a neurodevelopmental disorder caused

124 Fragile X syndrome (FXS) is a neurodevelopmental disorder caused

125 Fragile X syndrome (FXS) is a neurodevelopmental disorder that i

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

127 Fragile X syndrome (FXS) is an inherited neurodevelopmental dise

128 Fragile X syndrome (FXS) is an undertreated neurodevelopmental d

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

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

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

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

133 Fragile X syndrome (FXS) is caused by inactivation of the FMR1 g

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

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

136 Fragile X syndrome (FXS) is characteristically displayed intelle

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

138 Fragile X syndrome (FXS) is characterized by sensory hyper-sensi

139 ited intellectual impairment disease fragile X syndrome (FXS) is neuronal hyperexcitability, resultin

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

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

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

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

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

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

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

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

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

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

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

151 Fragile X syndrome (FXS) is the most common genetic cause for in

152 Fragile X syndrome (FXS) is the most common heritable cause of i

153 ficits in FXS.SIGNIFICANCE STATEMENT Fragile X Syndrome (FXS) is the most common inheritable form of

154 Fragile X syndrome (FXS) is the most common inherited form of au

155 Fragile X syndrome (FXS) is the most common inherited form of in

156 Fragile X Syndrome (FXS) is the most common inherited form of in

157 Fragile X syndrome (FXS) is the most common inherited form of in

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

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

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

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

162 Fragile-X syndrome (FXS) patients display intellectual disabilit

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

164 Fragile X syndrome (FXS) results from a genetic mutation in a si

165 Fragile X syndrome (FXS) results from a repeat expansion mutatio

166 Fragile X syndrome (FXS) results in intellectual disability (ID)

167 nostic yield from 1.60% to 1.84% for fragile X syndrome (FXS) using a pooling approach.

168 Fmr1) knockout (KO) mice, a model of Fragile X Syndrome (FXS) with abrogated expression of the Fragil

169 itch behavior in the mouse model of fragile X syndrome (FXS), a common form of inherited intellectua

170 Fragile X Syndrome (FXS), a common inheritable form of intellect

171 Fragile X syndrome (FXS), a common inherited form of intellectua

172 tal retardation protein (FMRP) cause fragile X syndrome (FXS), a genetic disorder characterized by in

173 Fragile X syndrome (FXS), a heritable intellectual and autism sp

174 tardation protein (FMRP) loss causes Fragile X syndrome (FXS), a major disorder characterized by auti

175 Fragile X syndrome (FXS), an X-chromosome linked intellectual di

176 spectrum disorders (ASDs), including fragile X syndrome (FXS), and frequently leads to tactile defens

177 atric diseases including depression, fragile X syndrome (FXS), anxiety, obsessive-compulsive disorder

178 and function is a major hallmark of fragile X syndrome (FXS), autism spectrum disorders (ASDs), and

179 Loss of FMRP causes fragile X syndrome (FXS), but the physiological functions of FMR

180 Fragile X syndrome (FXS), caused by a trinucleotide expansion (&

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

182 Fragile X syndrome (FXS), caused by the loss of functional FMRP,

183 Fragile X syndrome (FXS), characterized by intellectual disabili

184 Fragile X syndrome (FXS), due to mutations of the FMR1 gene, is

185 ut (ko) mice display key features of fragile X syndrome (FXS), including delayed dendritic spine matu

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

187 order (ASD), including in those with fragile X syndrome (FXS), one of the most common genetic syndrom

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

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

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

191 ntal retardation 1 (FMR1) gene cause fragile X syndrome (FXS), the leading single-gene form of intell

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

193 Fragile X syndrome (FXS), the most common cause of inherited men

194 retardation protein (FMRP) leads to Fragile X syndrome (FXS), the most common form of inherited inte

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

196 Fragile X syndrome (FXS), the most common form of inherited ment

197 Fragile X syndrome (FXS), the most common form of inherited ment

198 diseases affecting synapses, such as fragile X syndrome (FXS), the most common heritable autism disor

199 FMR1 gene silencing results in fragile X syndrome (FXS), the most common heritable cause of int

200 Fragile X syndrome (FXS), the most common heritable form of ment

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

202 disability and other afflictions of fragile X syndrome (FXS), the most common inherited cause of int

203 al retardation protein (FMRP) causes fragile X syndrome (FXS), the most common inherited intellectual

204 Fragile X syndrome (FXS), the most common monogenetic cause of A

205 ed RNA-BP, whose deficiency leads to Fragile X Syndrome (FXS), the most prevalent inherited intellect

206 somatosensory cortex (S1) neurons in Fragile X syndrome (FXS), which is a common inherited cause of a

207 One such condition is fragile X syndrome (FXS), which is considered to be caused by ex

208 spectrum of cognitive deficits, the fragile X syndrome (FXS), while aging individuals with decreased

209 Channelopathies are implicated in Fragile X syndrome (FXS), yet the dysfunction of a particular io

210 al retardation protein (FMRP) causes fragile X syndrome (FXS), yet the mechanisms underlying the path

211 one of the major characteristics of fragile X syndrome (FXS), yet the molecular mechanisms of this c

212 able autism spectrum disorder (ASD), fragile X syndrome (FXS).

213 ts absence or mutations leads to the Fragile X syndrome (FXS).

214 rders such as Down syndrome (DS) and fragile X syndrome (FXS).

215 t it is impaired in a mouse model of fragile X syndrome (FXS).

216 me (PWS), Williams Syndrome (WS) and Fragile X syndrome (FXS).

217 n protein (FMRP), which is absent in Fragile X Syndrome (FXS).

218 europsychiatric disorders, including Fragile X syndrome (FXS).

219 tical processing in a mouse model of Fragile X Syndrome (FXS).

220 s at synapses is dysregulated in the Fragile X syndrome (FXS).

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

222 bility and autism spectrum disorder, fragile X syndrome (FXS).

223 neurodevelopmental disorders such as Fragile X Syndrome (FXS).

224 tile perception are core problems in fragile X syndrome (FXS).

225 icits and sensory dysfunction in the fragile X syndrome (FXS).

226 1 knock-out mice, the mouse model of fragile X syndrome (FXS).

227 es of abnormal sensory processing in Fragile X syndrome (FXS).

228 r might hold therapeutic benefits in Fragile X syndrome (FXS).

229 evalent symptoms in individuals with Fragile X syndrome (FXS).

230 rm of mental retardation and autism, fragile X syndrome (FXS).

231 nct molecular pathologies, including fragile X syndrome (FXS; full mutation range, greater than 200 C

232 We report in a mouse model of fragile X syndrome, glutamate uncaging onto individual dendritic

233 nd significant sensitization) in the fragile X syndrome group was found in the cingulate gyrus, fusif

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

235 curs in a mouse model (Fmr1(-/-)) of fragile X syndrome, group I mGluR-activated translation is exagg

236 ence of autistic behaviours, such as fragile X syndrome, has the potential to identify genes and path

237 tudies performed on animal models of fragile X syndrome have revealed links between modifications of

238 mes, the most common of which is the fragile X syndrome, have been described.

239 to dorsal forebrain cell fates, our fragile X syndrome human pluripotent stem cell lines exhibited r

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

241 ns in diseases such as hemophilia A, fragile X syndrome, Hunter syndrome, and Friedreich's ataxia.

242 and trinucleotide repeats (linked to fragile X syndrome, Huntington disease, etc.), account for nearl

243 deletion HNF1 homeobox B (HNF1B) and triple X syndromes in 19 of 419 unrelated CKiD cases as compare

244 ardation Protein, which is absent in Fragile X syndrome, in adult CA1 and L5 PFC neurons regulates th

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

246 it hyperexcitability associated with Fragile X syndrome, including patients with complete deletion of

247 Fragile X syndrome is a common cause of intellectual disability

248 Fragile X syndrome is a neurodevelopmental disorder associated w

249 ATR-X syndrome is a severe intellectual disability disorder

250 Fragile X syndrome is caused by the loss of fragile X mental ret

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

252 Fragile X syndrome is the most common cause of inherited intelle

253 Fragile X syndrome is the most common form of inherited intellec

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

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

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

257 otrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read whole-genome s

258 been implicated in the pathology of fragile X syndrome, it remains unknown whether group I mGluR-med

259 ndrome (34%), CHARGE syndrome (30%), fragile X syndrome (male individuals only 30%; mixed sex 22%), n

260 g that therapeutic interventions for fragile X syndrome may benefit patients with SYNGAP1 haploinsuff

261 The Drosophila Fragile X Syndrome model has long generated insights into this d

262 herapy, which may help patients with fragile X syndrome modulate anxiety and arousal associated with

263 R5 dysfunction and phenotypes in the fragile X syndrome mouse model, Fmr1 knockout (Fmr1(-/y)).

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

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

266 ed maladaptive auditory responses in fragile X syndrome patients and Fmr1 KO mice, suggesting that ad

267 white matter differences reported in fragile X syndrome patients, suggesting common pathogenic mechan

268 ilar results in neurons derived from Fragile X Syndrome patients.

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

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

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

272 Fragile X syndrome results from loss of FMR1 expression.

273 Fragile X syndrome results in widespread reductions in functiona

274 rders where it is disrupted, such as Fragile X syndrome, Rett syndrome, epilepsy, major depressive di

275 ological diseases, including FMRP in fragile X syndrome; TDP-43, FUS (fused in sarcoma), angiogenin,

276 ene- and network-level correlates of fragile X syndrome that are associated with developmental signal

277 n describe what we have learned from fragile X syndrome that may be applicable to other psychiatric d

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

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

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

281 Fragile X syndrome, the most common form of heritable mental ret

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

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

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

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

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

287 Fragile X syndrome, the most common known monogenic cause of aut

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

289 Fragile X syndrome, the most commonly known genetic cause of aut

290 e repeats, which are associated with fragile X syndrome, the most widespread inherited cause of menta

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

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

293 rment in spinogenesis, a hallmark in Fragile X syndrome, thereby linking the regulation of actin dyna

294 al and psychiatric disorders such as fragile X syndrome, this work uncovers a unique translational ta

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

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

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

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

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

300 trophy, spinal muscular atrophy, and fragile X syndrome, with broader implications for other RBP-asso