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 rome associated with alpha-thalassaemia (ATR-X syndrome).

3 luding addiction, schizophrenia, and fragile X syndrome.

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

5 for the treatment of depression and fragile X syndrome.

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

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

8 is and some developmental aspects of fragile X syndrome.

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

10 trajectory of synaptic maturation in fragile X syndrome.

11 enerational transmissions leading to fragile X syndrome.

12 ationships with children affected by fragile X syndrome.

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

14 o maladaptive auditory processing in fragile X syndrome.

15 bute to dendritic pathophysiology in Fragile X syndrome.

16 autism spectrum disorders, including Fragile X syndrome.

17 uropsychiatric conditions, including fragile X syndrome.

18 ual disability are Down syndrome and Fragile X syndrome.

19 erlie perceptual deficits related to fragile X syndrome.

20 isorders including schizophrenia and fragile X syndrome.

21 ding protein whose deficiency causes fragile X syndrome.

22 hat have been shown to be altered in Fragile X syndrome.

23 2P or FMRP in vivo, a mouse model of fragile X syndrome.

24 asticity and cognition impairment in Fragile X syndrome.

25 linical implications for people with fragile X syndrome.

26 atment of individuals afflicted with Fragile X syndrome.

27 rs, including Huntington disease and fragile X syndrome.

28 europsychiatric disorders, including fragile X syndrome.

29 ms relevant to impaired cognition in fragile X syndrome.

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

31 havioural phenotypes associated with fragile X syndrome.

32 autism spectrum disorder as well as fragile X syndrome.

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

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

35 onal prefrontal cortex processing in fragile X syndrome.

36 developmental neurological disorder Fragile X syndrome.

37 y contributors to the development of fragile X syndrome.

38 ncluding nociception, addiction, and fragile X syndrome.

39 lectual disability and autism called fragile X syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

52 These fragile X syndrome-aberrant networks are significantly enriched

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

54 d temporal attention in infants with fragile X syndrome and age-matched neurotypically developing inf

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

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

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

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

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

60 echanistic aspects in the development of ATR-X syndrome and identify crucial functional residues with

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

62 0 may be useful for the treatment of fragile-X syndrome and other disorders with decreased cAMP signa

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

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

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

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

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

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

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

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

82 ) mice recapitulate many features of Fragile X syndrome, but evidence for deficits in executive funct

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

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

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

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

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

88 periments revealed that infants with fragile X syndrome experience drastically reduced resolution of

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

90 5-25 years) were 30 individuals with fragile X syndrome (females, N=14) and a comparison group of 25

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

109 Fragile X syndrome (FXS) causes mental impairment and autism thr

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

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

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

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

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

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

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

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

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

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

120 Fragile X syndrome (FXS) is a neurodevelopmental disorder charac

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

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

123 Fragile X syndrome (FXS) is an inherited neurologic disease caus

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

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

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

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

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

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

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

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

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

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

134 e abnormal spine morphology found in fragile X syndrome (FXS) is suggestive of an error in the signal

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

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

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

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

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

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

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

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

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

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

145 Fragile X Syndrome (FXS) is the most common form of inherited me

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

162 Fragile X syndrome (FXS) results from deficiency of fragile X me

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

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

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

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

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

168 etardation protein (FMRP) results in fragile X syndrome (FXS), an inherited form of intellectual disa

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

185 udinal neuroimaging investigation of fragile X syndrome (FXS), the most common cause of inherited int

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

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

188 ts; full mutation) and methylated in fragile X syndrome (FXS), the most common form of inherited inte

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

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

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

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

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

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

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

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

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

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

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

200 opment can lead to autism, including fragile X syndrome (FXS), which is presently the most common kno

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

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

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

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

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

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

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

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

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

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

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

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

213 1 knock-out mice, the mouse model of fragile X syndrome (FXS).

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

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

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

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

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

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

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

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

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

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

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

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

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

227 ing constitute prominent symptoms of fragile X syndrome; however, little is known about how disrupted

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

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

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

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

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

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

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

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

236 abilities affecting individuals with fragile X syndrome irrespective of age, intelligence level and g

237 Fragile X syndrome is a common cause of intellectual disability

238 ATR-X syndrome is a severe intellectual disability disorder

239 ophila model into the mouse model of Fragile X syndrome is an important advance, in that this identif

240 Fragile X syndrome is caused by the absence of functional fragil

241 Fragile X syndrome is caused by the loss of expression of the fr

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

243 Fragile X syndrome is the leading single gene cause of intellect

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

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

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

247 Fragile X syndrome is the most common type of inherited mental r

248 Fragile X Syndrome is the most prevalent genetic cause of mental

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

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

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

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

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

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

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

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

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

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

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

260 Individuals with fragile X syndrome present with a neurobehavioural phenotype tha

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

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

263 hat at least some of the symptoms of fragile X syndrome reflect impaired homeostatic plasticity and i

264 Fragile X syndrome results from loss of FMR1 expression.

265 Fragile X syndrome results in widespread reductions in functiona

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

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

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

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

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

271 ndrome, Neurofibromatosis Type 1 and Fragile X syndrome, the classical Drosophila genetic system has

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

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

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

275 Fragile X syndrome, the most common form of inherited mental ret

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

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

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

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

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

281 rders of neurodevelopment, including fragile X syndrome, the most common inherited form of intellectu

282 , an RNA-binding protein, results in Fragile X syndrome, the most common inherited form of intellectu

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

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

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

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

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

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

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

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

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

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

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

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

295 of protein dosage to the development of ATR-X syndrome, we also identified three mutations which pri

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

297 everal psychiatric disorders such as Fragile X syndrome, where neurons show a high density of long, t

298 the primary pathogenic signature of fragile X syndrome, which is the most common form of inherited m

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