ライフサイエンスコーパス: Prader

1 Prader-Willi (PWS) and Angelman (AS) syndromes are two c

2 Prader-Willi and Angelman syndromes (PWS and AS) typical

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

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

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

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

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

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

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

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

11 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) r

12 Prader-Willi syndrome (PWS) is a complex disorder that m

13 Prader-Willi syndrome (PWS) is a complex genetic disorde

14 Prader-Willi syndrome (PWS) is a complex neurobehavioral

15 Prader-Willi syndrome (PWS) is a genetic disorder charac

16 Prader-Willi syndrome (PWS) is a genetic neurodevelopmen

17 Prader-Willi syndrome (PWS) is a genomic imprinting diso

18 Prader-Willi syndrome (PWS) is a neurobehavioral and epi

19 Prader-Willi syndrome (PWS) is a neurobehavioral disorde

20 Prader-Willi syndrome (PWS) is a neurobehavioural disord

21 Prader-Willi syndrome (PWS) is a neurodevelopmental diso

22 Prader-Willi syndrome (PWS) is a rare neurodevelopmental

23 Prader-Willi syndrome (PWS) is an imprinting disorder ca

24 Prader-Willi syndrome (PWS) is caused by a loss of pater

25 Prader-Willi syndrome (PWS) is caused by alterations of

26 Prader-Willi syndrome (PWS) is caused by deficiency for

27 Prader-Willi syndrome (PWS) is caused by deficient expre

28 Prader-Willi syndrome (PWS) is caused by lack of paterna

29 Prader-Willi syndrome (PWS) is caused by loss of paterna

30 Prader-Willi syndrome (PWS) is caused by paternal defici

31 Prader-Willi syndrome (PWS) is caused by the absence of

32 Prader-Willi Syndrome (PWS) is caused by the loss of exp

33 Prader-Willi syndrome (PWS) is characterized by neonatal

34 Prader-Willi syndrome (PWS) is most often the result of

35 Prader-Willi syndrome (PWS) is the predominant genetic c

36 Prader-Willi syndrome (PWS) is the prototypic genomic di

37 Prader-Willi syndrome (PWS), a disorder of genomic impri

38 Prader-Willi syndrome (PWS), a genetic disorder of obesi

39 Prader-Willi syndrome (PWS), most notably characterized

40 Prader-Willi syndrome and Angelman syndrome are associat

41 Prader-Willi syndrome is a complex neurodevelopmental di

42 Prader-Willi syndrome is a developmental disorder with d

43 SIM1, were reported in obese children with a Prader-Willi-like syndrome; however, SIM1 involvement in

44 l as patients presenting with trisomy 21 and Prader-Willi syndrome.

45 eletions found in most cases of Angelman and Prader Willi syndrome, the duplications appear to be med

46 e nuclei to distinguish between Angelman and Prader-Willi syndrome patient samples with uniparental d

47 sychological disorders, such as Angelman and Prader-Willi syndromes, and autism spectrum disorder.

48 large deletions associated with Angelman and Prader-Willi syndromes.

49 the region commonly deleted in Angelman and Prader-Willi syndromes.

50 comparable to that of Williams, Angelman and Prader-Willi syndromes.

51 particularly the 15q11-q13 Angelman (AS) and Prader-Willi (PWS) syndrome locus.

52 Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are neurodevelopmental disor

53 ted genes such as Angelman syndrome (AS) and Prader-Willi syndrome (PWS) can have a mutation in the i

54 ponsible for both Angelman syndrome (AS) and Prader-Willi syndrome (PWS), two clinically distinct neu

55 Patients with Angelman syndrome (AS) and Prader-Willi syndrome with mutations in the imprinting p

56 ions causing Duchenne muscular dystrophy and Prader-Willi/Angelman syndromes.

57 y in children with chronic renal failure and Prader-Willi syndrome.

58 oventilation syndrome, myelomeningocele, and Prader-Willi syndrome.

59 therapy for children with Down syndrome and Prader-Willi syndrome as an example.

60 The Angelman/Prader-Willi syndrome (AS/PWS) domain contains at least

61 The most common individual ImpDis are Prader-Willi syndrome, Angelman syndrome and Beckwith-Wi

62 ead to neurodevelopmental disorders, such as Prader-Willi syndrome (PWS), which results from the dele

63 ment of neurodevelopmental disorders such as Prader-Willi syndrome and autism.

64 enetic neurodevelopmental syndromes, such as Prader-Willi syndrome and septo-optic dysplasia.

65 ndromes involving brain dysfunction, such as Prader-Willi syndrome, Angelman syndrome, Turner's syndr

66 ewborn screening for Angelman syndrome (AS), Prader-Willi syndrome (PWS), and chromosome 15 duplicati

67 estigated in Autism Spectrum Disorder (ASD), Prader-Willi Syndrome (PWS), Williams Syndrome (WS) and

68 mosomes, as well as the deletions that cause Prader-Willi and Angelman syndromes.

69 duplications can result in deletions causing Prader-Willi and Angelman syndromes.

70 sponsible for other aspects of the classical Prader-Willi syndrome phenotype.

71 is linked to the neurodevelopmental disease Prader-Willi syndrome.

72 ary to cause the neurodevelopmental disorder Prader-Willi syndrome (PWS).

73 ng autism, pervasive developmental disorder, Prader-Willi and Angelman syndromes showed significant d

74 The neurodevelopmental disorder, Prader-Willi syndrome, is generally regarded as a geneti

75 the epigenetic neurodevelopmental disorders Prader-Willi, Angelman and Rett syndromes and hypothesiz

76 Developmental abnormalities, such as Down, Prader Willi, Angelman and Cri du Chat syndromes, result

77 The most common etiology for Prader-Willi syndrome and Angelman syndrome is de novo i

78 cluded high ASD-associated risk observed for Prader-Willi/Angelman syndrome duplications (HR, 20.8; 9

79 d hypogonadism, in whom diagnostic tests for Prader-Willi syndrome (PWS) had been negative.

80 We also explored ARCOs generated from Prader-Willi syndrome (PWS) patient iPSCs.

81 ngelman, Alagille, Williams, Langer-Giedeon, Prader-Willi, Smith-Magenis, Miller-Dieker, and DiGeorge

82 orders include cri-du-chat, Wolf-Hirschhorn, Prader-Willi, Down, and Turner syndromes.

83 A novel locus in the human Prader-Willi syndrome (PWS) region encodes the imprinted

84 y 800 kb of the distal part of the imprinted Prader-Willi and Angelman syndrome region.

85 n is a candidate for a role in the imprinted Prader-Willi syndrome (PWS) and PWS mouse models.

86 nd asymmetry of L1 elements at the imprinted Prader-Willi syndrome/Angelman syndrome (PWS/AS) locus o

87 In Prader-Willi syndrome, 2 years of growth hormone therapy

88 ately regulated imprinted domain affected in Prader-Willi syndrome patients with imprinting mutations

89 HLH2 gene is associated with obesity; and in Prader-Willi syndrome, a condition characterized by obes

90 he breakpoint regions of common deletions in Prader-Willi and Angelman syndromes.

91 SNORD116 snoRNA cluster and the Imprinted in Prader-Willi (IPW) non-coding RNA.

92 One of these is NIPA1 (non-imprinted in Prader-Willi/Angelman syndrome 1) and we have shown rece

93 MAGEL2 is also inactivated in Prader-Willi syndrome, which overlaps clinically and mec

94 literature the predictors of self-injury in Prader-Willi syndrome are becoming more refined.

95 small population that is selectively lost in Prader-Willi syndrome, a condition involving insatiable

96 ncidence and treatment of vision problems in Prader-Willi syndrome (PWS).

97 ic defects involving chromosome 15q11-q13 in Prader-Willi (PWS) and Angelman (AS) syndromes.

98 range imprinted gene expression resulting in Prader-Willi syndrome.

99 egion or by uniparental disomy 15 results in Prader-Willi syndrome (PWS) or Angelman syndrome (AS), r

100 gene expression from this region results in Prader-Willi syndrome (PWS), while absence of maternal g

101 nally derived gene expression and results in Prader-Willi syndrome (PWS).

102 '/B levels in response to the loss of SmN in Prader-Willi syndrome brain tissue, potentially reducing

103 ole of recombinant growth hormone therapy in Prader-Willi syndrome and the genetic information respon

104 human neurodevelopmental disorders including Prader-Willi syndrome (PWS), Angelman syndrome (AS) and

105 everal neurobehavioural disorders, including Prader-Willi syndrome, affective disorders and obsessive

106 iseases with high prevalence of autism, like Prader-Willi Syndrome (PWS).

107 or within, a region commonly deleted in most Prader-Willi syndrome patients.

108 Although MAGEL2 is deleted in most cases of Prader-Willi syndrome (PWS, OMIM #176270), SYS presents

109 d and reliable in the molecular diagnosis of Prader-Willi syndrome.

110 sults in the clinically distinct disorder of Prader-Willi syndrome.

111 es POMC circuit deficits in a mouse model of Prader-Willi Syndrome.

112 o how they contribute to the pathogenesis of Prader-Willi syndrome.

113 tein N) locus may result in the phenotype of Prader-Willi syndrome (PWS).

114 scovered in the common breakpoint regions of Prader-Willi and Angelman syndrome deletions.

115 d probes for the commonly deleted regions of Prader-Willi, Angelman, Williams, Smith-Magenis, and DiG

116 obesity associated with, or independent of, Prader-Willi-like features.

117 me of the clinical features of the polygenic Prader-Willi syndrome.

118 across approximately 1.9 Mb of the 15q11-q13 Prader-Willi/Angelman syndrome region, demonstrating tha

119 Angelman syndrome, Prader-Will syndrome and Dup15q syndrome map to a cluste

120 cy and conditions such as Turner's syndrome, Prader-Willi syndrome, intrauterine growth restriction,

121 The Prader-Willi syndrome (PWS) genetic interval contains se

122 The Prader-Willi syndrome (PWS) is caused by genomic alterat

123 The Prader-Willi syndrome (PWS)/Angelman syndrome (AS) regio

124 The Prader-Willi syndrome IC (PWS-IC) on human chromosome 15

125 The Prader-Willi syndrome/Angelman syndrome (PWS/AS) imprint

126 n syndrome imprinting center (AS-IC) and the Prader-Willi syndrome imprinting center (PWS-IC).

127 egulation of growth suppressors, such as the Prader-Willi gene NECDIN, whose function was confirmed b

128 are known to be positively regulated by the Prader-Willi syndrome imprinting center (PWS-IC).

129 (MAGEL2) gene deficiency characterizing the Prader-Willi and Schaaf-Yang neurodevelopmental syndrome

130 Human chromosome 15q11-q13 encompasses the Prader-Willi syndrome (PWS) and the Angelman syndrome (A

131 nits have been implicated as a cause for the Prader-Willi syndrome (PWS).

132 S) cells show altered DNA methylation in the Prader-Willi imprinted region and ectopic expression of

133 d, paternally expressed gene, located in the Prader-Willi region of human chromosome 15.

134 at a cluster of four imprinted genes in the Prader-Willi syndrome (PWS) locus on chromosome 7 and ge

135 the smallest deletion region involved in the Prader-Willi syndrome (PWS) within chromosome 15q11-q13.

136 lly expressed, imprinted gene located in the Prader-Willi syndrome critical region (chromosome 15q11-

137 script), H19, and IPW (imprinted gene in the Prader-Willi syndrome region), which are transcribed but

138 letion or uniparental disomy, results in the Prader-Willi syndrome.

139 3a-ATS but not any imprinting defects in the Prader-Willi syndrome/Angelman syndrome region.

140 In studies of genomic imprinting in the Prader-Willi/Angelman domain, an agouti coat color casse

141 chromosome 15 (inv dup[15]) that include the Prader-Willi syndrome/Angelman syndrome (PWS/AS) chromos

142 nine candidate genes/regions, including the Prader-Willi chromosomal region (PWS), the human homolog

143 s and 350 kbp deletions at 15q11.2, near the Prader-Willi/Angelman syndrome critical region, in 0.8%

144 is contiguous with breakpoint 3 (BP3) of the Prader-Willi and Angelman syndrome region, extending 3.9

145 made in determining the genetic basis of the Prader-Willi and Angelman syndromes; disorders in which

146 Deletion of the Prader-Willi imprinting center (PWS-IC) within 15q11.2-1

147 t demonstrated several manifestations of the Prader-Willi syndrome but was clinically atypical.

148 h autistic disorder with duplications of the Prader-Willi/Angelman syndrome critical region, we scree

149 ourth had an interstitial duplication of the Prader-Willi/Angelman syndrome region on chromosome 15q,

150 ternally expressed transcripts mapped to the Prader-Willi syndrome critical region.

151 e by an upstream break may contribute to the Prader-Willi syndrome phenotype and that expression of S

152 n reaction analysis within and distal to the Prader-Willi/Angelman syndrome critical region (PWACR).

153 in the human genome are associated with the Prader-Willi Syndrome (PWS) and Beckwith-Wiedemann Syndr

154 genes are deleted in most patients with the Prader-Willi syndrome (PWS), diminished HTR2C receptor a

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

156 riants (rs4906844 and rs11633924) within the Prader-Willi and Angelman syndrome region on chromosome

157 lenced, gene located at 15q11-13, within the Prader-Willi region.

158 Imprinted genes within the Prader-Willi/Angelman syndrome region of human chromosom

159 )(q37.2;q11.2)-involving breakage within the Prader-Willi/Angelman syndrome region of the paternal ho

160 G), a neurodevelopmental disorder related to Prader-Willi syndrome (PWS).

161 nd might also be therapeutically relevant to Prader-Willi syndrome, characterized after infancy by hy

162 Unlike Prader-Willi and Angelman syndromes, no chromosomal dele

163 s of 18 canine testes were obtained by using Prader and Rochester orchidometers.

164 ed female newborns are profoundly virilized (Prader score of 4/5), and both genders display significa

165 aternal contribution from the locus, whereas Prader-Willi syndrome results from the absence of patern

166 Imprinted gene expression associated with Prader-Willi syndrome (PWS) and Angelman syndrome (AS) i

167 ps to the chromosomal region associated with Prader-Willi Syndrome (PWS), are highly enriched in the

168 tein that suppresses obesity associated with Prader-Willi syndrome - and reduced HFD-induced non-alco

169 , and loss of MAGEL2 is also associated with Prader-Willi syndrome, a neurodevelopmental genetic diso

170 rowth hormone (hGH) therapy in children with Prader-Willi syndrome (PWS) improves linear growth, body

171 Children with Prader-Willi syndrome lack a paternally derived copy of

172 2E, p.R581G, and p.T714A) in 4 children with Prader-Willi-like syndrome features (including severe ob

173 Here, SIM1 was sequenced in 44 children with Prader-Willi-like syndrome features, 198 children with s

174 es in prefrontal cortex (PFC) of donors with Prader-Willi syndrome (PWS) compared to controls and exa

175 ave been identified in several families with Prader-Willi syndrome (PWS) or Angelman syndrome who sho

176 prominent characteristic of individuals with Prader-Willi syndrome (PWS).

177 in hyperphagic behaviors in individuals with Prader-Willi syndrome (PWS).

178 linked to task switching in individuals with Prader-Willi syndrome (PWS).

179 A patient with Prader-Willi syndrome (PWS) was found to carry a de novo

180 receptor stimuli are absent in patients with Prader-Willi syndrome (PWS) during wakefulness.

181 Some patients with Prader-Willi Syndrome (PWS) have symptoms of constipatio

182 ifferent age and sex alongside patients with Prader-Willi syndrome (PWS), Beckwith-Wiedemann syndrome

183 somy, accounts for >95% of all patients with Prader-Willi syndrome.

184 of several that are deleted in patients with Prader-Willi syndrome.

185 ectrum disorder (ASD) and Dravet, Fragile X, Prader-Willi, Turner, and Williams syndromes.