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 recessive childhood-ons

24 Cockayne syndrome (CS) is a recessively inherited neurod

25 Cockayne syndrome (CS) is a recessively inherited neurod

26 Cockayne syndrome (CS) is an inherited neurodevelopmenta

27 Cockayne syndrome (CS) is characterized by impaired phys

28 Cockayne syndrome (CS) is characterized by increased pho

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

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

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

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

33 Cockayne syndrome is a neurodegenerative accelerated agi

34 Cockayne syndrome is a premature aging disease associate

35 Cockayne syndrome is an autosomal recessive disorder pri

36 Cockayne syndrome patients exhibit severe developmental

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

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

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

40 Cockayne's syndrome cells lack transcription-coupled nuc

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

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

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

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

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

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

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

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

49 ementation group D, trichothiodystrophy, and Cockayne syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

66 somal recessive segmental progeroid disorder Cockayne syndrome.

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

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

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

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

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

72 NER machinery and they have implications for Cockayne syndrome.

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

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

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

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

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

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

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

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

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

82 family suspected on clinical grounds to have Cockayne syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

112 lso explain the diverse clinical features of Cockayne syndrome.

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

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

115 ependent translocases and yeast homologue of Cockayne syndrome B.

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

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

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

119 insight into the clinical manifestations of Cockayne syndrome.

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

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

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

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

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

125 Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy are three dist

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

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

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

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

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

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

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

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

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

135 Previously, Cockayne syndrome proteins and BRCA1 were implicated in

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

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

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

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

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

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

142 The Cockayne syndrome complementation group B (CSB) protein

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

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

145 The Cockayne syndrome mice thus represent a model for testin

146 The Cockayne syndrome sample showed the high susceptibility

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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