ライフサイエンスコーパス: Cockayne

1 Cockayne syndrome (CS) and cerebro-oculo-facial-skeletal

2 Cockayne syndrome (CS) and xeroderma pigmentosum (XP) ar

3 Cockayne syndrome (CS) is a devastating autosomal recess

4 Cockayne syndrome (CS) is a genetic human disease with c

5 Cockayne syndrome (CS) is a human autosomal recessive di

6 Cockayne syndrome (CS) is a human disease characterized

7 Cockayne syndrome (CS) is a human DNA repair-deficient d

8 Cockayne syndrome (CS) is a human genetic disorder chara

9 Cockayne syndrome (CS) is a human genetic disorder chara

10 Cockayne Syndrome (CS) is a human genetic disorder with

11 Cockayne syndrome (CS) is a human hereditary disease bel

12 Cockayne syndrome (CS) is a human premature aging disord

13 Cockayne syndrome (CS) is a human premature aging disord

14 Cockayne syndrome (CS) is a multisystem disorder with se

15 Cockayne syndrome (CS) is a premature aging condition ch

16 Cockayne syndrome (CS) is a premature aging disorder cha

17 Cockayne syndrome (CS) is a premature aging disorder cha

18 Cockayne syndrome (CS) is a rare autosomal recessive neu

19 Cockayne syndrome (CS) is a rare genetic disorder in whi

20 Cockayne syndrome (CS) is a rare human disorder characte

21 Cockayne syndrome (CS) is a rare inherited human genetic

22 Cockayne syndrome (CS) is a rare inherited human genetic

23 Cockayne Syndrome (CS) is a rare neurodegenerative disea

24 Cockayne syndrome (CS) is a rare recessive childhood-ons

25 Cockayne syndrome (CS) is a recessively inherited neurod

26 Cockayne syndrome (CS) is a recessively inherited neurod

27 Cockayne syndrome (CS) is a segmental premature aging sy

28 Cockayne syndrome (CS) is an autosomal recessive genetic

29 Cockayne syndrome (CS) is an inherited neurodevelopmenta

30 Cockayne syndrome (CS) is characterized by impaired phys

31 Cockayne syndrome (CS) is characterized by increased pho

32 Cockayne syndrome (CS), caused by defects in TCR, is a r

33 Cockayne syndrome B (CSB), best known for its role in tr

34 Cockayne syndrome B protein (CSB), or its yeast ortholog

35 Cockayne syndrome group A and B (CSB) proteins act in tr

36 Cockayne syndrome group B (CSB, also known as ERCC6) pro

37 Cockayne syndrome is a neurodegenerative accelerated agi

38 Cockayne syndrome is a premature aging disease associate

39 Cockayne syndrome is an accelerated aging disorder, caus

40 Cockayne syndrome is an autosomal recessive disorder pri

41 Cockayne syndrome patients exhibit severe developmental

42 Cockayne syndrome protein B (CSB) belongs to the SWI2/SN

43 Cockayne syndrome type B ATPase (CSB) belongs to the SwI

44 Cockayne's syndrome (CS) is a disease characterized by d

45 Cockayne's syndrome cells lack transcription-coupled nuc

46 ir: xeroderma pigmentosum group A (XP-A) and Cockayne syndrome group B (CS-B).

47 erma pigmentosum variant (two biopsies), and Cockayne syndrome (one biopsy).

48 -lines RT4 and RT112, normal fibroblasts and Cockayne Syndrome (CS) fibroblasts following gamma-radia

49 e, Alagille syndrome, neurofibromatosis, and Cockayne's syndrome can secondarily result in renal vasc

50 ion of the 8-oxoguanine in DNA by normal and Cockayne Syndrome (CS) cell extracts has been investigat

51 asses, elucidating xeroderma pigmentosum and Cockayne syndrome disease etiology.

52 hanisms underlying xeroderma pigmentosum and Cockayne syndrome, the two main diseases linked to mutat

53 UV-sensitive syndrome (UV(S)S) and Cockayne syndrome (CS) are human disorders caused by CSA

54 hmund-Thomson syndrome, Werner syndrome, and Cockayne syndrome, also exhibit skin disease.

55 appears common to ataxia-telangiectasia and Cockayne syndrome, two other DNA repair disorders with n

56 t transcription elongation factors TFIIS and Cockayne's syndrome complementation group B protein did

57 roderma pigmentosum, trichothiodystrophy and Cockayne syndrome onto defined communities reveals clust

58 ementation group D, trichothiodystrophy, and Cockayne syndrome.

59 oderma pigmentosum, trichothiodystrophy, and Cockayne's syndrome, characterized by a wide spectrum of

60 Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) cells have specific DNA repair de

61 eases such as xeroderma pigmentosum (XP) and Cockayne syndrome (CS).

62 Several human mutations, such as Cockayne syndrome complementation groups A and B, are de

63 RCC6 protein is more commonly referred to as Cockayne Syndrome B protein (CSB).

64 he transcription-blocking lesion, perhaps by Cockayne syndrome group B translocase, or during the syn

65 Mutations in the human CSB gene cause Cockayne syndrome (CS).

66 ee gene products, Cockayne syndrome A (CSA), Cockayne syndrome B (CSB), and ultraviolet stimulated sc

67 an transcription-repair coupling factor CSB (Cockayne syndrome 8) are highly homologous to known heli

68 more, transcription coupled repair-deficient Cockayne syndrome cells are not hypersensitive to UVA/6-

69 ls in transcription-coupled repair-deficient Cockayne syndrome group A (Csa(-/-)) and group B (Csb(-/

70 The hereditary disease Cockayne syndrome (CS) is a complex clinical syndrome ch

71 e implicated in the human hereditary disease Cockayne syndrome, may have a role in transcription.

72 This response is absent in the human disease Cockayne syndrome, which is caused by loss of the Cockay

73 d in the severe human neurocutaneous disease Cockayne syndrome.

74 TCR gives rise to the severe human disorder Cockayne's syndrome (CS).

75 -G) or the fatal neurodevelopmental disorder Cockayne syndrome (XP-G/CS).

76 he autosomal-recessive neurological disorder Cockayne syndrome, which is characterized by progeriod f

77 ciated with the severe neurological disorder Cockayne syndrome.

78 se the neurodevelopmental progeroid disorder Cockayne syndrome, but little is known about how XPG los

79 somal recessive segmental progeroid disorder Cockayne syndrome.

80 roderma pigmentosum (XP), or aging disorders Cockayne syndrome (CS), and trichothiodystrophy (TTD).

81 even-nineteen lysine-rich in leukemia (ELL), Cockayne syndrome complementation group B (CSB), and elo

82 CSB/ERCC6 (Cockayne syndrome B protein/excision repair cross-comple

83 s [xeroderma pigmentosum (XP)-A, XP-C, XP-F, Cockayne's syndrome-B, Fanconi anemia] but did require t

84 d nucleotide excision repair (TC-NER) factor Cockayne syndrome group B (CSB), but not the global geno

85 NER machinery and they have implications for Cockayne syndrome.

86 t to identify protein partners and roles for Cockayne syndrome group B (CSB) protein in this organell

87 Like the rad26 mutant, cells from Cockayne syndrome patients are defective in TCR.

88 Cells from Cockayne syndrome patients with mutations in the XPG gen

89 Cells from Cockayne's syndrome (CS) patients are sensitive to ultra

90 Studies with cell lines derived from Cockayne syndrome (CS) and Xeroderma pigmentosum (XP) gr

91 pecies have been found in cells derived from Cockayne syndrome patients.

92 igmentosum group A (XP-A), XP-D, XP-F, XP-G, Cockayne syndrome group A (CS-A), and CS-B] are hypersen

93 ncluding other xeroderma pigmentosum groups, Cockayne syndrome, and a newly established ultraviolet-s

94 syndrome A (CSA) gene, and the remaining had Cockayne syndrome B (CSB) gene mutations.

95 family suspected on clinical grounds to have Cockayne syndrome.

96 Rad26p, a yeast homologue of human Cockayne syndrome B with an ATPase activity, plays a piv

97 independent of Rad26, the homologue of human Cockayne syndrome complementation group B protein.

98 Rad26, the yeast homologue of human Cockayne syndrome group B protein, and Rpb9, a nonessent

99 kidney failure, features that resemble human Cockayne syndrome.

100 lack the RAD26 gene, a homolog of the human Cockayne syndrome group B (CSB) gene, and, importantly,

101 s cerevisiae is the counterpart of the human Cockayne syndrome group B (CSB) gene.

102 diated by specific factors such as the human Cockayne syndrome group B (CSB) protein or its yeast hom

103 Rad26, the yeast homolog of the human Cockayne syndrome group B (CSB) protein, plays an import

104 e RAD26 gene, the yeast homolog of the human Cockayne syndrome group B gene (CSB).

105 g on the roles of stalled RNA polymerase II, Cockayne syndrome protein B (CSB), CSA and UV-stimulated

106 Finally, the process is activated in Cockayne's syndrome but not Xeroderma pigmentosum group

107 that requires the gene products defective in Cockayne syndrome (CS).

108 Notably, this blockage is exacerbated in Cockayne Syndrome and xeroderma pigmentosum patient-deri

109 , and the CSB protein which is implicated in Cockayne syndrome (CS).

110 ficient in XPC or in the genes implicated in Cockayne syndrome (CSA and CSB) indicated that the drug

111 lobal genome repair, which are implicated in Cockayne syndrome and xeroderma pigmentosum group C, res

112 e lack of ubiquitylation of RNA pol II LS in Cockayne's syndrome cells does not cause their defect in

113 We suggest that other genes are mutated in Cockayne syndrome cells that contribute to the deficienc

114 The human CSB gene, mutated in Cockayne's syndrome group B (partially defective in both

115 e majority of CS patients carry mutations in Cockayne syndrome group B (CSB), best known for its role

116 While loss-of-function mutations in Cockayne syndrome group B protein (CSB) cause neurologic

117 Neurodegeneration in Cockayne syndrome may therefore be associated with ROS-i

118 n xeroderma pigmentosum group A cells nor in Cockayne's syndrome group B cells, indicating a requirem

119 might contribute to the cachexia observed in Cockayne syndrome as well as chemotherapy-induced anorec

120 ion underlies the failure of this process in Cockayne syndrome B cells.

121 n the human RAD2 counterpart, XPG, result in Cockayne syndrome.

122 pair defect in UV61 is homologous to that in Cockayne's syndrome (complementation group B) cells.

123 for impaired ribosomal DNA transcription in Cockayne syndrome and suggests that transcription-couple

124 ER-associated DNA repair disorders including Cockayne syndrome and some forms of xeroderma pigmentosu

125 Numerous human disorders, including Cockayne syndrome, UV-sensitive syndrome, xeroderma pigm

126 utations of OGG1 acetylation sites increased Cockayne syndrome group B (CSB) protein expression.

127 During investigating Cockayne Syndrome-associated genome instability, we unco

128 roject, which revealed that Drosophila lacks Cockayne syndrome WD repeat protein (CSA), CSB, or UV-st

129 y virus-1 infection, acute myeloid leukemia, Cockayne syndrome, and the familial cancer predispositio

130 CSA-1, which is an ortholog of the mammalian Cockayne Syndrome type-A protein involved in transcripti

131 d nucleotide excision repair factor (TC-NER) Cockayne syndrome group B (CSB) and the global genome NE

132 diseases with progressive neurodegeneration (Cockayne syndrome, Xeroderma pigmentosum, and Ataxia tel

133 CDK5RAP2 and progeria-associated defects of Cockayne syndrome.

134 functional interpretation of the effects of Cockayne syndrome disease mutations.

135 repair, leading to sequential engagement of Cockayne syndrome (CS) proteins CSB and CSA, and to prot

136 defect in UV61 is the hamster equivalent of Cockayne's syndrome, the RNA polymerase II transcription

137 lso explain the diverse clinical features of Cockayne syndrome.

138 broblasts from individuals with two forms of Cockayne syndrome (CS-A and CS-B), a rare disorder in wh

139 s in this association underlie some forms of Cockayne syndrome.

140 ependent translocases and yeast homologue of Cockayne syndrome B.

141 The level of Cockayne syndrome B protein (CSB), a member of the TC-NE

142 Mutations of CSB account for the majority of Cockayne syndrome (CS), a devastating hereditary disorde

143 The majority of Cockayne syndrome cases contain mutations in the ATP-dep

144 insight into the clinical manifestations of Cockayne syndrome.

145 (also known as Ercc5(-/-)) mice, a model of Cockayne syndrome, responded similarly.

146 We show that mouse models of Cockayne syndrome, a progeroid disorder resulting from a

147 Although the pathogenesis of Cockayne syndrome has remained elusive, recent work impl

148 logical degeneracy and growth retardation of Cockayne's syndrome.

149 ions in the human XPG gene cause early onset Cockayne syndrome (CS).

150 Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy are three dist

151 the genetic diseases xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy, highlighting

152 ludes the porphyrias, xeroderma pigmentosum, Cockayne syndrome, Bloom syndrome, and Rothmund-Thomson

153 different syndromes, xeroderma pigmentosum, Cockayne syndrome, or trichothiodystrophy, depending on

154 sease states, such as xeroderma pigmentosum, Cockayne's syndrome, Bloom's syndrome and Werner's syndr

155 igmentosum (n = 77) or xeroderma pigmentosum/Cockayne syndrome (n = 2).

156 ties suggestive of the xeroderma pigmentosum/Cockayne syndrome complex including sun sensitivity, neu

157 associated with severe xeroderma pigmentosum/Cockayne syndrome neurologic symptoms.

158 genetically linked to xeroderma pigmentosum/Cockayne syndrome, Warsaw breakage syndrome, and dyskera

159 ere form a functional description of a plant Cockayne syndrome factor A (CSA) ortholog, and demonstra

160 Previously, Cockayne syndrome proteins and BRCA1 were implicated in

161 repair (TCR), in which three gene products, Cockayne syndrome A (CSA), Cockayne syndrome B (CSB), an

162 -sensitive syndrome and the severe progeroid Cockayne syndrome.

163 the first example of an endogenous protein, Cockayne Syndrome B (CSB), that can bind selectively wit

164 tion due to genetic disorders of DNA repair (Cockayne syndrome and xeroderma pigmentosum).

165 ome (HGPS), Werner syndrome, Bloom syndrome, Cockayne syndrome, trichothiodystrophy, ataxia-telangiec

166 efective transcription-coupled repair (TCR), Cockayne syndrome (CS), and early death, but the molecul

167 in adducts, DPC sequencing, we discover that Cockayne syndrome (CS) proteins CSB and CSA provide resi

168 Previous work indicated that Cockayne syndrome group B interacts with RNA polymerase

169 The Cockayne syndrome B (CSB) protein--defective in a majori

170 The Cockayne syndrome complementation group B (CSB) protein

171 The Cockayne Syndrome group B (CSB) protein plays important

172 The Cockayne syndrome group B protein (CSB) is a member of t

173 The Cockayne syndrome mice thus represent a model for testin

174 The Cockayne syndrome sample showed the high susceptibility

175 l subcategories, the Pasini (DDEB-P) and the Cockayne-Touraine (DDEB-CT) variants, on the basis of th

176 Proteins enabling TCR are the Cockayne syndrome B (CSB) protein in humans and its yeas

177 emoval of chromosomal DPCs requires both the Cockayne syndrome group B gene as well as "downstream" T

178 e CSA or CSB complementation genes cause the Cockayne syndrome, a severe genetic disorder that result

179 In mammalian cells, the Cockayne syndrome B protein (Csb) mediates transcription

180 st-TCR recovery of transcription and for the Cockayne syndrome.

181 Six patients (38%) had mutations in the Cockayne syndrome A (CSA) gene, and the remaining had Co

182 Mutations in the Cockayne Syndrome group B (CSB) gene cause cancer in mic

183 the Saccharomyces cerevisiae homolog of the Cockayne syndrome A (CSA) gene, which we designate as RA

184 yne syndrome, which is caused by loss of the Cockayne syndrome A (CSA) or CSB proteins(5-7).

185 We now show that loss of the Cockayne syndrome group B protein (CSB) or overexpressio

186 ns and suggest that the manifestation of the Cockayne Syndrome phenotype in humans results from the p

187 eated cells, which might explain part of the Cockayne syndrome phenotypes.

188 scription-coupled repair is dependent on the Cockayne syndrome group A and B proteins, as well as TFI

189 In the absence of Senataxin, the Cockayne syndrome protein CSB was required for the recru

190 Finally, we also propose that the Cockayne's syndrome B protein factor, believed to be the

191 DNA damage but cannot begin repair until the Cockayne syndrome group B protein (CSB) binds ubiquitin.

192 Elongin ubiquitin ligase assembles with the Cockayne syndrome B helicase (CSB) in response to DNA da

193 ermore, VCP/p97 and UBXD7 associate with the Cockayne syndrome group A-DDB1-Cul4A complex, an E3 liga

194 AD26 encodes a protein that is homologous to Cockayne syndrome group B protein (CSB) and is a member

195 led DNA repair, and mutations in CSB lead to Cockayne syndrome.

196 Its mutations are linked to Cockayne syndrome phenotypes and classically are thought

197 Two Cockayne syndrome (CS) complementation group proteins, C

198 ve transcription and requires both wild-type Cockayne syndrome protein B (CSB) function and the prese

199 classified in three main subtypes: EBS Weber-Cockayne (EBS-WC), EBS Kobner (EBS-K), and EBS Dowling-M

200 of NEIL2 with RNA polymerase II, along with Cockayne syndrome group B protein, TFIIH, and other BER

201 Defective TCR in humans is associated with Cockayne syndrome (CS), typically caused by defects in e

202 utations in the CSB gene are associated with Cockayne syndrome.

203 position, or in rare cases, XP combined with Cockayne syndrome.

204 Cells isolated from individuals with Cockayne syndrome (CS) have a defect in transcription-co

205 n the developing tissues of individuals with Cockayne's syndrome, a hereditary disorder characterized

206 ite the DNA repair deficiency, patients with Cockayne's syndrome do not experience an elevated risk f

207 It was found that cells from patients with Cockayne's syndrome, which are deficient in the processi

208 eroid disorders (xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD)), w

209 Xeroderma pigmentosum (XP)/Cockayne syndrome (CS) complex is a combination of clini

210 esult in combined xeroderma pigmentosum (XP)/Cockayne syndrome (CS), a severe DNA repair disorder cha

211 sorders xeroderma pigmentosum (XP) or the XP-Cockayne syndrome complex.

212 hty-three patients had XP, 3 patients had XP/Cockayne syndrome complex, and 1 patient had XP/trichoth