ライフサイエンスコーパス: Cockayne syndrome

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

2 lso explain the diverse clinical features of Cockayne syndrome.

3 NER machinery and they have implications for Cockayne syndrome.

4 ementation group D, trichothiodystrophy, and Cockayne syndrome.

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

6 insight into the clinical manifestations of Cockayne syndrome.

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

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

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

10 somal recessive segmental progeroid disorder Cockayne syndrome.

11 family suspected on clinical grounds to have Cockayne syndrome.

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

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

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

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

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

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

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

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

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

21 Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy are three dist

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

38 ependent translocases and yeast homologue of Cockayne syndrome B.

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

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

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

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

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

44 The Cockayne syndrome complementation group B (CSB) protein

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

63 Cockayne syndrome (CS) is a devastating autosomal recess

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

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

66 Cockayne syndrome (CS) is a human disease characterized

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

84 Cockayne syndrome (CS) is a recessively inherited neurod

85 Cockayne syndrome (CS) is a recessively inherited neurod

86 Cockayne syndrome (CS) is an inherited neurodevelopmenta

87 Cockayne syndrome (CS) is characterized by impaired phys

88 Cockayne syndrome (CS) is characterized by increased pho

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

129 Cockayne syndrome is a neurodegenerative accelerated agi

130 Cockayne syndrome is a premature aging disease associate

131 Cockayne syndrome is an autosomal recessive disorder pri

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

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

134 The Cockayne syndrome mice thus represent a model for testin

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

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

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

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

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

140 Cockayne syndrome patients exhibit severe developmental

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

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

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

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

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

146 Previously, Cockayne syndrome proteins and BRCA1 were implicated in

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

148 The Cockayne syndrome sample showed the high susceptibility

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

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

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

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

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

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

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