ライフサイエンスコーパス: Angelman syndrome

1 regulation has been implicated in autism and Angelman syndrome.

2 city contributes to deficits associated with Angelman syndrome.

3 te to neurological deficits in patients with Angelman syndrome.

4 trate(s) are important in the development of Angelman syndrome.

5 mic sperm injection (ICSI) and who developed Angelman syndrome.

6 ve stress in models of Alzheimer disease and Angelman syndrome.

7 ably contributes to the overall phenotype of Angelman syndrome.

8 rmal maternal copy of the same region causes Angelman syndrome.

9 the E3 ubiquitin-protein ligase UBE3A causes Angelman syndrome.

10 ntal trajectory observed in individuals with Angelman syndrome.

11 ction causes the neurodevelopmental disorder Angelman syndrome.

12 13 paternal duplication, and 3 patients with Angelman syndrome.

13 turbance, two prominent clinical features of Angelman syndrome.

14 ated in neurodevelopmental disorders such as Angelman syndrome.

15 ted phenotypes that are distinguishable from Angelman syndrome.

16 disease phenotypes which differ from classic Angelman syndrome.

17 dicating a restricted therapeutic window for Angelman syndrome.

18 ong been pursued as a therapeutic option for Angelman syndrome.

19 rders including Autism, Dup15q syndrome, and Angelman syndrome.

20 ted UBE3A gene in neurons as a treatment for Angelman syndrome.

21 and is among the maternal alleles deleted in Angelman syndrome.

22 Many had prior diagnoses of autism and/or Angelman syndrome.

23 has been associated with development of the Angelman syndrome.

24 ntial therapeutic strategy for patients with Angelman syndrome.

25 diated dopaminergic signaling is affected in Angelman syndrome.

26 e that mimic a neurogenetic disease known as Angelman syndrome.

27 absence of maternal gene expression leads to Angelman syndrome.

28 but dormant allele of Ube3a in patients with Angelman syndrome.

29 elopmental defect in human children known as Angelman syndrome.

30 that may underlie the cognitive deficits in Angelman syndrome.

31 result in deletions causing Prader-Willi and Angelman syndromes.

32 as the deletions that cause Prader-Willi and Angelman syndromes.

33 Duchenne muscular dystrophy and Prader-Willi/Angelman syndromes.

34 ions of common deletions in Prader-Willi and Angelman syndromes.

35 hese is NIPA1 (non-imprinted in Prader-Willi/Angelman syndrome 1) and we have shown recently that its

36 RTT displays phenotypic overlap with Angelman syndrome, a disorder caused by loss of expressi

37 in neurons and loss of maternal UBE3A causes Angelman syndrome, a neurodevelopmental disorder with so

38 E6AP expression or function is the cause of Angelman syndrome, a neurodevelopmental disorder, and in

39 pressor in cervical cancer and is mutated in Angelman syndrome, a neurological disorder.

40 Indeed, Angelman syndrome, a severe neurodevelopmental disorder,

41 iquitin protein ligase 3A (UBE3A) results in Angelman syndrome, also a severe developmental disorder

42 nant disorder caused by MECP2 mutations, and Angelman syndrome, an imprinted disorder caused by mater

43 Childhood neurodevelopmental disorders like Angelman syndrome and autism may be the result of underl

44 plicated in neurological disorders including Angelman syndrome and autism.

45 our understanding of the pathophysiology of Angelman syndrome and be used as a preclinical large ani

46 individual ImpDis are Prader-Willi syndrome, Angelman syndrome and Beckwith-Wiedemann syndrome.

47 t is mutated in the human cognitive disorder Angelman syndrome and duplicated in some forms of Autism

48 ontribute to future treatment strategies for Angelman syndrome and other UBE3A-related diseases.

49 to the cognitive dysfunction that occurs in Angelman Syndrome and possibly other ASDs.

50 erous Sclerosis Complex, Fragile X syndrome, Angelman syndrome and several synaptic ASD candidate gen

51 nderstanding of the disease-causing event in Angelman syndrome and the potential to harness the intac

52 ctivity and the dosage of E6AP are linked to Angelman syndrome and to autism spectrum disorders, resp

53 e abnormal cognitive function that occurs in Angelman syndrome and, possibly, ASDs.

54 igase whose dysfunction is linked to autism, Angelman syndrome, and cancer.

55 n unaffected mother, her three children with Angelman syndrome, and her father.

56 f children with Beckwith-Wiedemann syndrome, Angelman syndrome, and retinoblastoma.

57 with-Wiedemann syndrome, Fragile-X syndrome, Angelman syndrome, and Silver-Russell syndrome.

58 Prader-Willi syndrome and Angelman syndrome are associated with parent-of-origin-s

59 ically, Fmr1 (fragile X syndrome) and Ube3a (Angelman syndrome) are transcriptionally regulated by NP

60 Angelman syndrome arises from the lack of maternal contr

61 rders including Prader-Willi syndrome (PWS), Angelman syndrome (AS) and autism.

62 Angelman syndrome (AS) and Prader-Willi syndrome (PWS) a

63 disorders involving imprinted genes such as Angelman syndrome (AS) and Prader-Willi syndrome (PWS) c

64 domain at 15q11-q13 is responsible for both Angelman syndrome (AS) and Prader-Willi syndrome (PWS),

65 Patients with Angelman syndrome (AS) and Prader-Willi syndrome with mu

66 silence Ube3a-ATS in an adult mouse model of Angelman syndrome (AS) and restore endogenous physiologi

67 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are caused by deficiency of impri

68 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are caused by the loss of imprint

69 Individuals with Angelman syndrome (AS) are characterized by severe cogni

70 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are developmental disorders resul

71 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral diso

72 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are oppositely imprinted autism-s

73 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two clinically distinct neuro

74 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurological dis

75 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two neurodevelopmental disord

76 Angelman syndrome (AS) is a childhood-onset neurogenetic

77 Angelman syndrome (AS) is a debilitating neurodevelopmen

78 3a is silenced by imprinting in neurons, and Angelman syndrome (AS) is a disorder arising from a dele

79 Angelman syndrome (AS) is a disorder of human cognition

80 Angelman syndrome (AS) is a genetic neurodevelopmental d

81 Angelman syndrome (AS) is a human genetic disorder chara

82 Angelman syndrome (AS) is a human neuropsychiatric disor

83 Angelman syndrome (AS) is a neurodevelopment disorder ch

84 Angelman syndrome (AS) is a neurodevelopmental disorder

85 Angelman syndrome (AS) is a neurodevelopmental disorder

86 ts associated with AS.SIGNIFICANCE STATEMENT Angelman syndrome (AS) is a neurodevelopmental disorder

87 Angelman syndrome (AS) is a neurodevelopmental disorder

88 Angelman syndrome (AS) is a neurodevelopmental disorder

89 Angelman syndrome (AS) is a neurodevelopmental disorder

90 Angelman syndrome (AS) is a neurodevelopmental disorder

91 Angelman syndrome (AS) is a neurodevelopmental disorder

92 Angelman syndrome (AS) is a neurogenetic disorder caused

93 Angelman syndrome (AS) is a neurogenetic disorder caused

94 Angelman syndrome (AS) is a neurogenetic disorder caused

95 Angelman syndrome (AS) is a neurogenetic disorder charac

96 Angelman syndrome (AS) is a neurogenetic disorder charac

97 Angelman syndrome (AS) is a neurogenetic disorder charac

98 Angelman syndrome (AS) is a rare genetic neurodevelopmen

99 Angelman syndrome (AS) is a rare genetic neurodevelopmen

100 Angelman syndrome (AS) is a rare neurodevelopmental diso

101 Angelman Syndrome (AS) is a rare neurodevelopmental diso

102 Angelman syndrome (AS) is a rare neurogenetic disorder c

103 Angelman syndrome (AS) is a severe disorder of postnatal

104 Angelman syndrome (AS) is a severe genetic disorder caus

105 Angelman syndrome (AS) is a severe genetic neurodevelopm

106 Angelman syndrome (AS) is a severe neurodevelopmental di

107 Angelman syndrome (AS) is a severe neurodevelopmental di

108 Angelman syndrome (AS) is a severe neurodevelopmental di

109 Angelman syndrome (AS) is a severe neurodevelopmental di

110 Angelman syndrome (AS) is a severe neurodevelopmental di

111 Angelman Syndrome (AS) is a severe neurodevelopmental di

112 Angelman syndrome (AS) is a severe neurodevelopmental di

113 Angelman syndrome (AS) is a severe neurodevelopmental di

114 Angelman syndrome (AS) is a severe neurodevelopmental di

115 n of therapies for AS.SIGNIFICANCE STATEMENT Angelman syndrome (AS) is a severe neurogenetic disorder

116 Angelman syndrome (AS) is a severe neurological disorder

117 Angelman syndrome (AS) is associated with a loss of mate

118 Angelman syndrome (AS) is associated with maternal delet

119 Angelman syndrome (AS) is caused by the loss of Ube3A, a

120 Angelman syndrome (AS) is characterized by mental retard

121 ociated with Prader-Willi syndrome (PWS) and Angelman syndrome (AS) is controlled by two imprinting c

122 The neurodevelopmental disorder Angelman syndrome (AS) is usually caused by the deletion

123 sses the Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) loci, which are subject to parent

124 Angelman syndrome (AS) most frequently results from larg

125 from PWS patients (maternal allele only) and Angelman syndrome (AS) patients (paternal allele only).

126 The Prader-Willi syndrome (PWS)/Angelman syndrome (AS) region, on human chromosome 15q11

127 Most cases of Angelman syndrome (AS) result from loss or inactivation

128 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) result from the loss of function

129 Individuals with Angelman syndrome (AS) suffer sleep disturbances that se

130 ecent study, Berg et al. used a rat model of Angelman Syndrome (AS) to identify Ube3a-dependent socia

131 Ube3a, a gene that causes Angelman syndrome (AS) when maternally deleted and is as

132 d functions, since its deficiency results in Angelman Syndrome (AS) while its over-expression increas

133 he maternal copy of E6-AP is correlated with Angelman syndrome (AS), a genetic neurological disorder

134 Loss of maternal UBE3A causes Angelman syndrome (AS), a neurodevelopmental disorder as

135 Angelman syndrome (AS), a neurodevelopmental disorder ca

136 tions of the maternal UBE3A allele result in Angelman syndrome (AS), a neurodevelopmental disorder ch

137 gene regulated by genomic imprinting, causes Angelman syndrome (AS), a rare neurodevelopmental disord

138 Angelman syndrome (AS), a severe neurodevelopmental diso

139 nonfunctional copy of the UBE3A gene develop Angelman syndrome (AS), a severe neurodevelopmental diso

140 the maternal allele of the UBE3A gene cause Angelman syndrome (AS), a severe neurodevelopmental diso

141 Angelman syndrome (AS), an early-onset neurodevelopmenta

142 (encoding methyl CpG binding protein 2), and Angelman syndrome (AS), caused by maternal deficiency of

143 Angelman syndrome (AS), characterized by mental retardat

144 mpared epilepsy phenotypes with genotypes of Angelman syndrome (AS), including chromosome 15q11-13 de

145 ated with autism spectrum disorder (ASD) and Angelman syndrome (AS), is enriched in contralaterally p

146 Newborn screening for Angelman syndrome (AS), Prader-Willi syndrome (PWS), and

147 15 results in Prader-Willi syndrome (PWS) or Angelman syndrome (AS), respectively.

148 many neurodevelopmental disorders, including Angelman syndrome (AS), which is caused by the loss of t

149 e for the UBE3A ubiquitin ligase gene causes Angelman syndrome (AS), which is characterized by severe

150 UBE3A causes the neurodevelopmental disorder Angelman syndrome (AS), while duplication or triplicatio

151 A ubiquitin ligase, the gene responsible for Angelman syndrome (AS).

152 quitin protein ligase E3A (UBE3A) gene cause Angelman syndrome (AS).

153 rotein, and maternal deficiency causes human Angelman syndrome (AS).

154 gene lead to the neurodevelopmental disorder Angelman syndrome (AS).

155 C plasticity is impaired in a mouse model of Angelman syndrome (AS).

156 and in neurodevelopmental disorders, such as Angelman syndrome (AS).

157 re common in the neurodevelopmental disorder Angelman syndrome (AS).

158 ers, including autism spectrum disorders and Angelman syndrome (AS).

159 llele causes the neurodevelopmental disorder Angelman syndrome (AS).

160 Deletion of the maternal UBE3A allele causes Angelman syndrome (AS); because paternal UBE3A is epigen

161 mical understanding of a previously isolated Angelman syndrome-associated mutation of E6AP that alter

162 rders such as Beckwith-Wiedemann Syndrome or Angelman Syndrome, both of which involve dysregulation o

163 e proband was diagnosed clinically as having Angelman syndrome, but without a detectable cytogenetic

164 ped a potential therapeutic intervention for Angelman syndrome by reducing Ube3a-ATS with antisense o

165 children with Beckwith-Wiedemann syndrome or Angelman syndrome caused by an imprinting defect.

166 cally silenced, raising the possibility that Angelman syndrome could be treated by activating this si

167 alysis within and distal to the Prader-Willi/Angelman syndrome critical region (PWACR).

168 deletions at 15q11.2, near the Prader-Willi/Angelman syndrome critical region, in 0.8% of affected i

169 sorder with duplications of the Prader-Willi/Angelman syndrome critical region, we screened several m

170 ommon breakpoint regions of Prader-Willi and Angelman syndrome deletions.

171 ng the genetic basis of the Prader-Willi and Angelman syndromes; disorders in which genomic imprintin

172 Rodent models of Angelman syndrome do not fully recapitulate all the symp

173 SD-associated risk observed for Prader-Willi/Angelman syndrome duplications (HR, 20.8; 95% CI, 7.9-55

174 elevance to autism, intellectual disability, Angelman syndrome, epilepsy, and regression.

175 These studies include work in Angelman syndrome, epilepsy, behavioural responsiveness

176 overing approximately 2 Mb and including the Angelman syndrome gene (UBE3A) and a cluster of gamma-am

177 These data suggest that, like the candidate Angelman syndrome gene Ube3a (ubiquitin ligase), Usp29 m

178 UBE3A, the Angelman syndrome gene, has, to date, been the only mate

179 The Angelman syndrome gene, UBE3A, is subject to genomic imp

180 ion consisting of two distinct elements, the Angelman syndrome imprinting center (AS-IC) and the Prad

181 veral traits often found in individuals with Angelman syndrome imprinting defects.

182 ations in E6-AP are the genetic basis of the Angelman syndrome in humans.

183 ceptor beta(3) subunit gene have features of Angelman syndrome, including absence-like seizures.

184 ed several symptoms observed in infants with Angelman syndrome, including hypotonia, suckling deficit

185 he paternal UBE3A allele in neurotypical and Angelman syndrome induced pluripotent stem cell-derived

186 Angelman Syndrome is a debilitating neurological disorde

187 Angelman syndrome is a devastating neurogenetic disorder

188 Angelman syndrome is a neurodevelopmental disorder cause

189 Angelman syndrome is a neurodevelopmental disorder chara

190 Angelman syndrome is a neurological disorder whose sympt

191 Angelman syndrome is a severe neurodevelopmental disorde

192 Angelman syndrome is a severe neurodevelopmental disorde

193 Angelman syndrome is a severe neurological disorder char

194 Angelman syndrome is a single-gene disorder characterize

195 therapeutic window of genetic therapies for Angelman syndrome is broader than previously thought, an

196 Since the initial recognition that Angelman syndrome is caused by maternal deficiency of th

197 ommon etiology for Prader-Willi syndrome and Angelman syndrome is de novo interstitial deletion of ch

198 The simplest model for Angelman syndrome is that in the absence of UBE3A, parti

199 Epilepsy in Angelman Syndrome is thought to originate from an imbala

200 A promising therapeutic approach to treating Angelman syndrome is to reactivate the intact paternal U

201 UBE3A, the gene associated with Angelman syndrome, is part of a cluster of genes in the

202 of chromosome 15, and eat uncontrollably; in Angelman syndrome lack of a maternal contribution of 15q

203 types have so far been reported: an X-linked Angelman syndrome-like condition, Christianson syndrome

204 Angelman syndrome mice demonstrated an impaired DAT effl

205 y cortical circuits was severely impaired in Angelman syndrome model mice deficient in Ube3a.

206 set, consistent with phenotypes described in Angelman syndrome model mice.

207 were up-regulated in an equivalent manner in Angelman syndrome mouse (TgAS) brain, which has the same

208 Partial restoration of UBE3A protein in an Angelman syndrome mouse model ameliorated some cognitive

209 tion and that of a specific loss-of-function Angelman syndrome mutation that promotes trimer destabil

210 -thioester bond formation and is the site of Angelman syndrome mutations.

211 1) and typically developing children without Angelman syndrome (n = 48).

212 Unlike Prader-Willi and Angelman syndromes, no chromosomal deletions have yet be

213 Using PWS and Angelman syndrome patient derived cells with either pate

214 t imprinting in induced PSCs derived from an Angelman syndrome patient.

215 ally, missense mutations in UBE3A alleles of Angelman syndrome patients alter amino acid residues con

216 and has recently been shown to be mutated in Angelman syndrome patients who lack 15q11-q13 deletions

217 explanation for some phenotypic features of Angelman syndrome patients.

218 sm and suggest that it may contribute to the Angelman syndrome phenotype.

219 Angelman syndrome, Prader-Will syndrome and Dup15q syndr

220 [15]) that include the Prader-Willi syndrome/Angelman syndrome (PWS/AS) chromosomal region (15q11-q13

221 The Prader-Willi syndrome/Angelman syndrome (PWS/AS) imprinted domain is regulated

222 ments at the imprinted Prader-Willi syndrome/Angelman syndrome (PWS/AS) locus on mouse chromosome 7.

223 SNRPN is located within the Prader-Willi and Angelman syndrome (PWS/AS) region that contains multiple

224 Prader-Willi and Angelman syndromes (PWS and AS) typically result from an

225 Imprinted genes within the Prader-Willi/Angelman syndrome region of human chromosome 15q11-q13 a

226 )-involving breakage within the Prader-Willi/Angelman syndrome region of the paternal homologue, with

227 interstitial duplication of the Prader-Willi/Angelman syndrome region on chromosome 15q, which, if ma

228 and rs11633924) within the Prader-Willi and Angelman syndrome region on chromosome 15q12 showed a ge

229 imately 1.9 Mb of the 15q11-q13 Prader-Willi/Angelman syndrome region, demonstrating that the influen

230 h breakpoint 3 (BP3) of the Prader-Willi and Angelman syndrome region, extending 3.95 Mb distally to

231 istal part of the imprinted Prader-Willi and Angelman syndrome region.

232 rinting defects in the Prader-Willi syndrome/Angelman syndrome region.

233 on of the paternally imprinted gene Ube3a in Angelman syndrome results in selective neuronal loss of

234 enetic defects have been identified, such as Angelman syndrome, Rett syndrome, Neurofibromatosis Type

235 ive developmental disorder, Prader-Willi and Angelman syndromes showed significant differences in MeC

236 associated virus (AAV) Cas9 gene therapy for Angelman syndrome that integrated into the genome and pr

237 antisense oligonucleotide (ASO) therapy for Angelman syndrome that targets an evolutionarily conserv

238 dysfunction, such as Prader-Willi syndrome, Angelman syndrome, Turner's syndrome, bipolar depression

239 or these sleep disorders in a mouse model of Angelman syndrome (Ube3a(m-/p+) mice).

240 to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrom

241 d in the etiology of Alzheimer's disease and Angelman syndrome, was originally reported in neurons as

242 f sporadic cases of the imprinting disorder, Angelman syndrome, which has also been linked with ARTs.

243 families with Prader-Willi syndrome (PWS) or Angelman syndrome who show epigenetic inheritance for th

244 de that dube3a mutants are a valid model for Angelman syndrome, with great potential for identifying