ライフサイエンスコーパス: Cockayne syndrome

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

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

3 lso explain the diverse clinical features of Cockayne syndrome.

4 NER machinery and they have implications for Cockayne syndrome.

5 ementation group D, trichothiodystrophy, and Cockayne syndrome.

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

7 d in the severe human neurocutaneous disease Cockayne syndrome.

8 -sensitive syndrome and the severe progeroid Cockayne syndrome.

9 kidney failure, features that resemble human Cockayne syndrome.

10 family suspected on clinical grounds to have Cockayne syndrome.

11 CDK5RAP2 and progeria-associated defects of Cockayne syndrome.

12 ciated with the severe neurological disorder Cockayne syndrome.

13 insight into the clinical manifestations of Cockayne syndrome.

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

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

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

17 somal recessive segmental progeroid disorder Cockayne syndrome.

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

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

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

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

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

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

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

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

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

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

28 Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy are three dist

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

51 ependent translocases and yeast homologue of Cockayne syndrome B.

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

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

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

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

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

57 The Cockayne syndrome complementation group B (CSB) protein

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

76 Cockayne syndrome (CS) is a devastating autosomal recess

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

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

79 Cockayne syndrome (CS) is a human disease characterized

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

96 Cockayne Syndrome (CS) is a rare neurodegenerative disea

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

98 Cockayne syndrome (CS) is a recessively inherited neurod

99 Cockayne syndrome (CS) is a recessively inherited neurod

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

101 Cockayne syndrome (CS) is an autosomal recessive genetic

102 Cockayne syndrome (CS) is an inherited neurodevelopmenta

103 Cockayne syndrome (CS) is characterized by impaired phys

104 Cockayne syndrome (CS) is characterized by increased pho

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

153 Cockayne syndrome is a neurodegenerative accelerated agi

154 Cockayne syndrome is a premature aging disease associate

155 Cockayne syndrome is an accelerated aging disorder, caus

156 Cockayne syndrome is an autosomal recessive disorder pri

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

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

159 The Cockayne syndrome mice thus represent a model for testin

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

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

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

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

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

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

166 Cockayne syndrome patients exhibit severe developmental

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

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

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

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

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

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

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

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

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

176 Previously, Cockayne syndrome proteins and BRCA1 were implicated in

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

178 The Cockayne syndrome sample showed the high susceptibility

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

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

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

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

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

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

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

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

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

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

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

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