ライフサイエンスコーパス: lissencephaly

1 psy or cognitive impairments associated with lissencephaly.

2 causing the severe human brain malformation lissencephaly.

3 entical neuronal migration defects, known as lissencephaly.

4 pling may contribute to migration defects in lissencephaly.

5 nized genetic anomaly associated with type I lissencephaly.

6 new insights into the pathogenesis of type I lissencephaly.

7 PTEN-related macrocephaly and Miller-Dieker lissencephaly.

8 lopment and is associated with human type II lissencephaly.

9 in the neuronal migration disorder X-linked lissencephaly.

10 vere developmental brain abnormality, type I lissencephaly.

11 d to a very similar phenotype, termed type 1 lissencephaly.

12 neuronal basis for seizures associated with lissencephaly.

13 s a malformation of the human brain known as lissencephaly.

14 spared him from the more severe phenotype of lissencephaly.

15 Lis1, a mouse model of human 17p13.3-linked lissencephaly.

16 doublecortin, is the main cause of classical lissencephaly.

17 le epilepsy, and bilateral temporo-occipital lissencephaly.

18 eterotopia) and affected males show X-linked lissencephaly.

19 mutations in the same exons have had diffuse lissencephaly.

20 structural homology with LIS1, which causes lissencephaly.

21 migration defects observed in Miller-Dieker lissencephaly.

22 an neuronal migration disorder Miller-Dieker lissencephaly.

23 s, DCX is a major genetic locus for X-linked lissencephaly.

24 e molecular and cellular bases of DCX-linked lissencephaly.

25 otypes that frequently accompany cobblestone lissencephaly.

26 ration and a smooth brain phenotype known as lissencephaly.

27 iventricular and subcortical heterotopia and lissencephaly.

28 cerebral cortex malformation in cobblestone lissencephaly.

29 was demonstrated in a mouse model of type I lissencephaly.

30 neocortex and hippocampus known as classical lissencephaly.

31 y contribute to the cell-sparse pathology of lissencephaly.

32 ed with a human cortical malformation termed lissencephaly.

33 fficiency in the neurodevelopmental disorder lissencephaly.

34 eterotopia, subcortical band heterotopia and lissencephaly.

35 ene cause the smooth brain disease classical lissencephaly.

36 ion defects resembling cobblestone (type II) lissencephaly.

37 rms of human brain malformation than classic lissencephalies.

38 as to the broad clinical spectrum of type II lissencephalies.

39 involved in the pathogenesis of cobblestone lissencephalies.

40 n E-like (Nudel or Ndel1) interact with both lissencephaly 1 (Lis1) and dynein.

41 letions on chromosome 17p13.3, including the lissencephaly 1 (LIS1) gene.

42 The microtubule-associated protein lissencephaly 1 (Lis1) is a key regulator of cell divisi

43 verlapping localization patterns of ASUN and lissencephaly 1 (LIS1), a dynein adaptor, suggest that A

44 lear distribution factor E-homolog 1 (NDE1), Lissencephaly 1 (LIS1), and NDE-like 1 (NDEL1) together

45 2, and a third subunit, the dynein regulator lissencephaly 1 (LIS1), mediates the structure and funct

46 We conclude that the NDE1/Lissencephaly 1 and dynactin complexes separately mediat

47 tor acetylhydrolase, isoform Ib, PAFAH1B1 or lissencephaly 1 protein (LIS1) and nuclear distribution

48 and in Lis1, the Drosophila homolog of human lissencephaly 1, reinforcing the role of the dynein comp

49 We identified the protein Lissencephaly-1 (Lis1) and found that minus-end travel d

50 of dynactin, end-binding protein-1 (EB1) and Lissencephaly-1 (LIS1) in the interaction of end trackin

51 Lissencephaly-1 (LIS1) is a highly conserved dynein-regu

52 Here we show that Lissencephaly-1 (Lis1) regulates BMP signaling and E-cad

53 -D2 (BicD2) or the multifunctional regulator Lissencephaly-1 (Lis1).

54 on of muskelin with RanBP9, and its atypical lissencephaly-1 homology motif, which has a nuclear loca

55 ase IB subunit alpha (Pafah1b1), also called Lissencephaly-1, can cause classical lissencephaly, a se

56 Mutations in Lis1 cause classical lissencephaly, a developmental brain abnormality charact

57 Mutation of human LIS1 causes lissencephaly, a developmental brain disorder.

58 ked to LIS-1, the disease gene for a form of lissencephaly, a disorder of cortical development.

59 ng reelin) or PAFAH1B1 (encoding LIS1) cause lissencephaly, a human neuronal migration disorder.

60 Haploinsufficiency of LIS1 results in lissencephaly, a human neuronal migration disorder.

61 e of two major genetic loci underlying human lissencephaly, a neurodevelopmental disorder with defect

62 ales with loss of the X-linked DCX result in lissencephaly, a neuronal migration defect.

63 Type I lissencephaly, a neuronal migration disorder characteriz

64 utations in the human LIS1 gene cause type I lissencephaly, a severe brain developmental disease invo

65 as LIS1) in humans is associated with type I lissencephaly, a severe developmental brain disorder tho

66 ng mutations of the Lis1 gene display type I lissencephaly, a severe form of cortical dysplasia hypot

67 called Lissencephaly-1, can cause classical lissencephaly, a severe malformation of cortical develop

68 pically includes severe brain malformations (lissencephaly, agenesis of the corpus callosum, and midb

69 , which comprises the less severe end of the lissencephaly (agyria-pachygyria-band) spectrum of malfo

70 type of TUBA1A and TUBG1 tubulinopathies are lissencephalies and microlissencephalies, whereas TUBB2B

71 ent progress made in understanding the human lissencephalies and related disorders.

72 X-linked lissencephaly and "double cortex" are allelic human diso

73 ormation syndrome characterized by classical lissencephaly and a characteristic facies.

74 ammalian brain, and its misregulation causes lissencephaly and behavioral and cognitive defects.

75 cloned following the study of children with lissencephaly and cytogenetic abnormalities involving ch

76 Classical lissencephaly and double cortex are genetic neuronal mig

77 results in the severe developmental disorder lissencephaly and is associated with neurological diseas

78 Cobblestone (type II) lissencephaly and mental retardation are characteristic

79 ) are frequently associated with cobblestone lissencephaly and mental retardation.

80 a-tubulin genes have been identified in both lissencephaly and polymicrogyria, usually associated wit

81 ties agree with the classical pathologies of lissencephaly and polymicrogyria.

82 ngenital muscular dystrophy with cobblestone lissencephaly and structural eye defects to a mild form

83 c putative signaling protein, cause X-linked lissencephaly and subcortical band heterotopia.

84 CX (Xq22.3), a gene associated with X-linked lissencephaly and subcortical band heterotopia.

85 ronal migration abnormalities (often type II lissencephaly) and ocular or retinal defects.

86 restriction, ventriculomegaly, microcephaly, lissencephaly, and extensive degenerative changes of the

87 oprosencephaly, periventricular heterotopia, lissencephaly, and Joubert syndrome.

88 nhibitory input may underlie the epilepsy in lissencephaly, and suggest potential therapeutic strateg

89 The lissencephalies are usually single-gene disorders affect

90 Polymicrogyria and lissencephaly are causally heterogeneous disorders of co

91 These data suggest that SBH and X-linked lissencephaly are caused by mutation of a single gene, X

92 Among the clinical consequences of lissencephaly are mental retardation and intractable epi

93 lso occurred, similar to type II cobblestone lissencephaly as seen in congenital muscular dystrophy.

94 Megalencephaly and lissencephaly associated with defective programmed cell

95 experimental paradigm in understanding human lissencephaly, but clear limitations exist in these stud

96 ns of TMTCs provide insight into cobblestone lissencephaly caused by deficiency in TMTC3.

97 Cobblestone lissencephaly (COB) is a severe brain malformation in wh

98 Much of our knowledge about DCX-associated lissencephaly comes from post-mortem analyses of patient

99 Lissencephaly comprises a spectrum of brain malformation

100 MDS and ILS deletion patients, localizes the lissencephaly critical region within the LIS1 gene.

101 d epilepsy, including double cortex/X-linked lissencephaly (DC/XLIS), have been localized to Xq21.3-q

102 ince discovery of the first genetic cause of lissencephaly, deletions of chromosome 17p13.3 in Miller

103 Deletion of the lissencephaly disease gene LIS-1 in humans causes an ext

104 the product of the gene mutated in X-linked lissencephaly/double cortex syndrome, a severe developme

105 otopia, polymicrogyria, band heterotopia and lissencephaly, dysembryoplastic neuroepithelial tumours,

106 Four double cortex/X-linked lissencephaly families and three sporadic double cortex

107 to dissociate the epileptic consequences of lissencephaly from the more phenotypically overt cortica

108 ion factor FOXO1 that represses the X-linked lissencephaly gene encoding doublecortin (DCX).

109 RNA interference (RNAi) of the lissencephaly gene LIS1 (also known as PAFAH1b1) inhibit

110 Two identified lissencephaly genes do not account for all known cases,

111 atients with missense mutations had a milder lissencephaly grade compared with those with mutations l

112 lon delineates patients with the most severe lissencephaly grade.

113 euronal disorganization resulting from Lis1 (lissencephaly) haploinsufficiency contributes to cogniti

114 rved motif within the amino-terminal domain, lissencephaly homology motif (LisH) and C-terminal to Li

115 topias resembling those found in cobblestone lissencephalies in which neuroepithelial cells migrate i

116 ein, whose gene (DCX) has been implicated in lissencephaly in humans.

117 c facial features and a more severe grade of lissencephaly in MDS.

118 rom two males with mutated DCX and classical lissencephaly including smooth brain and abnormal cortic

119 five genes that cause or contribute to human lissencephaly, including LIS1, 14-3-3 epsilon, DCX, RELN

120 Type I lissencephaly is a central nervous system (CNS) malforma

121 Lissencephaly is a cortical malformation secondary to im

122 Classical lissencephaly is a genetic neurological disorder associa

123 Lissencephaly is a human developmental brain abnormality

124 Classical lissencephaly is a human developmental brain disorder ch

125 Lissencephaly is a malformation of cortical development

126 Lissencephaly is a severe brain malformation caused by i

127 Lissencephaly is a severe congenital brain malformation

128 The pathogenesis of type I lissencephaly is believed to be a defect in radial neuro

129 For example, lissencephaly is caused by mutations in the dynein-assoc

130 Classical lissencephaly is characterized by smooth cerebral surfac

131 An autosomal recessive form of lissencephaly (LCH) associated with severe abnormalities

132 pic similarity with existing mouse models of lissencephaly led us to screen a cohort of patients with

133 n in meningeal fibroblasts and a cobblestone lissencephaly-like phenotype in the developing cortex.

134 Classical lissencephaly (LIS) is a neuronal migration disorder res

135 ortical band heterotopia (SBH) and classical lissencephaly (LIS) result from deficient neuronal migra

136 Subcortical band heterotopia (SBH) and lissencephaly (LIS), two distinct neuronal migration dis

137 s PAF and is composed of three subunits [the lissencephaly (LIS1) protein and alpha1 and alpha2 subun

138 devastating human brain malformation, type I lissencephaly (Lis1).

139 tion of cortical development that results in lissencephaly (meaning smooth brain).

140 romes: (i) microlissencephaly (n = 12); (ii) lissencephaly (n = 19); (iii) central pachygyria and pol

141 a relationship between the specific type of lissencephaly observed and deficiency of specific modes

142 of polymicrogyria and five with an atypical lissencephaly on neuroimaging.

143 ene cause gross neocortical disorganization (lissencephaly or "smooth brain") in hemizygous males, wh

144 s resembling defects in type 2 (cobblestone) lissencephaly or congenital muscular dystrophies but app

145 or doublecortin can lead to either classical lissencephaly or double cortex, but because LIS1 is auto

146 The agyria (lissencephaly)/pachygyria phenotypes are catastrophic de

147 racteristic cerebellar dysplasia but without lissencephaly, pachygyria and polymicrogyria typically a

148 ons of cortical development (MCD), typically lissencephaly, pachygyria and polymicrogyria; however, s

149 Such "tubulinopathies" include lissencephaly/pachygyria, polymicrogyria-like malformati

150 remains the strongest candidate gene for the lissencephaly phenotype in ILS and MDS.

151 Given the similarities between the lissencephaly phenotypes that result from aberrations in

152 n array of neurological disorders, including lissencephaly, polymicrogyria and microcephaly.

153 Human cortical malformations, including lissencephaly, polymicrogyria and other diseases of neur

154 The lissencephaly protein Lis1 has been reported to regulate

155 f the PAFAH1B complex and, particularly, the lissencephaly protein Lis1 in spermatogenesis.

156 that Pac1, the yeast homologue of the human lissencephaly protein LIS1, plays a key role in this pro

157 Mutations of doublecortin causing lissencephaly (R59H, D62N, and G253D) abolished binding

158 However, the basis of the epilepsy in lissencephaly remains unclear.

159 idence of additional abnormalities including lissencephaly, schizencephaly, polymicrogyria and, in on

160 S1 may contribute to the more severe form of lissencephaly seen only in patients with MDS.

161 human neuronal migration disorders isolated lissencephaly sequence (ILS) and the more severe Miller-

162 ith Miller-Dieker syndrome (MDS) or isolated lissencephaly sequence (ILS) have a hemizygous deletion

163 Approximately 65% of patients with isolated lissencephaly sequence (ILS) show intragenic mutations o

164 owever, the phenotype can vary from isolated lissencephaly sequence (ILS) to Miller-Dieker syndrome (

165 been observed and is referred to as isolated lissencephaly sequence (ILS).

166 Isolated lissencephaly sequence and Miller-Dieker syndrome are re

167 two related neurological disorders: isolated lissencephaly sequence and Miller-Dieker syndrome.

168 encoding LIS1) in 17p13.3 result in isolated lissencephaly sequence, and extended deletions including

169 Our results suggest that the lissencephaly severity in ILS caused by LIS1 mutations m

170 phenotypes and hypothesize that the greater lissencephaly severity seen in Miller-Dieker syndrome ma

171 rons to arrest in the cortex lead to type II lissencephaly (smooth brain with clusters of neurons alo

172 quired for neuroblast migration cause type I lissencephaly (smooth brain) and subcortical band hetero

173 nsufficiency of human LIS1 results in type I lissencephaly (smooth brain) with severely reduced surfa

174 LIS1, the product of a causal gene for human lissencephaly (smooth brain), has also been implicated i

175 Mutations of the LIS1 gene result in human lissencephaly (smooth brain), which features misplaced c

176 n major brain malformations, including human lissencephaly (smooth brain).

177 Lissencephaly ("smooth brain," from "lissos," meaning sm

178 -epicanthus inversus syndrome, Miller-Dieker lissencephaly syndrome, and Williams-Beuren syndrome--in

179 account for all known cases, and additional lissencephaly syndromes have been described.

180 ule-binding domain resulted in a more severe lissencephaly than later truncation/deletion mutations (

181 a more important role in the development of lissencephaly than previously suspected.

182 In classical lissencephaly, the six-layered cortex is replaced by a f

183 Here we describe a "thin" lissencephaly (TLIS) variant characterized by megalencep

184 e products of genes mutated in Miller-Dieker lissencephaly, Treacher Collins, oral-facial-digital typ

185 tin (Dcx) is the causative gene for X-linked lissencephaly, which encodes a microtubule-binding prote

186 e associated with the anatomical abnormality lissencephaly, which is believed to reflect failure of n

187 h humans and mice that resembles cobblestone lissencephaly, which is characterized by overmigration o

188 LIS1 gene, result in the brain malformation lissencephaly, which is characterized by reduced gyratio

189 est that truncating mutations cause X-linked lissencephaly with abnormal genitalia, and insertion/mis

190 X mutations have also been found in X-linked lissencephaly with abnormal genitalia, which typically i

191 r' phenotype in mice and autosomal recessive lissencephaly with cerebellar hypoplasia in man.

192 Homozygous RELN mutations are known to cause lissencephaly with cerebellar hypoplasia.

193 me, ventriculomegaly, cerebellar hypoplasia, lissencephaly with hydrocephalus, and fetal akinesia def

194 y have severe brain abnormalities resembling lissencephaly, with abnormal layering of neurons in the

195 Lissencephaly without facial dysmorphism has also been o

196 sociated protein that is mutated in X-linked lissencephaly (X-LIS), a neuronal migration disorder ass

197 ex" syndrome (DC) in females and to X-linked lissencephaly (XLIS) in males.