ライフサイエンスコーパス: Angelman syndrome

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

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

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

4 ably contributes to the overall phenotype of Angelman syndrome.

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

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

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

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

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

10 has been associated with development of the Angelman syndrome.

11 ntial therapeutic strategy for patients with Angelman syndrome.

12 diated dopaminergic signaling is affected in Angelman syndrome.

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

14 absence of maternal gene expression leads to Angelman syndrome.

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

16 elopmental defect in human children known as Angelman syndrome.

17 that may underlie the cognitive deficits in Angelman syndrome.

18 regulation has been implicated in autism and Angelman syndrome.

19 city contributes to deficits associated with Angelman syndrome.

20 te to neurological deficits in patients with Angelman syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

44 Angelman syndrome arises from the lack of maternal contr

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

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

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

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

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

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

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

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

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

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

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

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

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

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

59 Angelman syndrome (AS) is a debilitating neurodevelopmen

60 3a is silenced by imprinting in neurons, and Angelman syndrome (AS) is a disorder arising from a dele

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

62 Angelman syndrome (AS) is a genetic neurodevelopmental d

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

64 Angelman syndrome (AS) is a human neuropsychiatric disor

65 Angelman syndrome (AS) is a neurodevelopment disorder ch

66 Angelman syndrome (AS) is a neurodevelopmental disorder

67 Angelman syndrome (AS) is a neurodevelopmental disorder

68 Angelman syndrome (AS) is a neurodevelopmental disorder

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

70 Angelman syndrome (AS) is a neurodevelopmental disorder

71 Angelman syndrome (AS) is a neurodevelopmental disorder

72 Angelman syndrome (AS) is a neurogenetic disorder caused

73 Angelman syndrome (AS) is a neurogenetic disorder caused

74 Angelman syndrome (AS) is a neurogenetic disorder charac

75 Angelman Syndrome (AS) is a rare neurodevelopmental diso

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

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

78 Angelman syndrome (AS) is a severe neurodevelopmental di

79 Angelman syndrome (AS) is a severe neurodevelopmental di

80 Angelman syndrome (AS) is a severe neurodevelopmental di

81 Angelman syndrome (AS) is a severe neurodevelopmental di

82 Angelman syndrome (AS) is a severe neurological disorder

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

84 Angelman syndrome (AS) is associated with maternal delet

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

86 Angelman syndrome (AS) is characterized by mental retard

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

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

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

90 Angelman syndrome (AS) most frequently results from larg

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

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

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

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

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

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

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

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

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

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

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

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

103 Angelman syndrome (AS), characterized by mental retardat

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

105 15 results in Prader-Willi syndrome (PWS) or Angelman syndrome (AS), respectively.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

132 Angelman Syndrome is a debilitating neurological disorde

133 Angelman syndrome is a neurodevelopmental disorder cause

134 Angelman syndrome is a neurological disorder whose sympt

135 Angelman syndrome is a severe neurodevelopmental disorde

136 Angelman syndrome is a severe neurodevelopmental disorde

137 Angelman syndrome is a severe neurological disorder char

138 Angelman syndrome is a single-gene disorder characterize

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

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

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

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

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

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

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

146 Angelman syndrome mice demonstrated an impaired DAT effl

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

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

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

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

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

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

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

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

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

156 explanation for some phenotypic features of Angelman syndrome patients.

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

158 [15]) that include the Prader-Willi syndrome/Angelman syndrome (PWS/AS) chromosomal region (15q11-q13

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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