ライフサイエンスコーパス: pigmentosum

1 DNA repair (Cockayne syndrome and xeroderma pigmentosum).

2 ia, Rothmund-Thomson syndrome, and xeroderma pigmentosum.

3 such as ataxia telangiectasia and xeroderma pigmentosum.

4 ockayne syndrome and some forms of xeroderma pigmentosum.

5 use the skin cancer-prone syndrome xeroderma pigmentosum.

6 rone syndrome, the variant form of xeroderma pigmentosum.

7 esult in the cancer-prone disorder xeroderma pigmentosum.

8 itable, skin cancer-prone disorder xeroderma pigmentosum.

9 rone syndrome, the variant form of xeroderma pigmentosum.

10 rone syndrome, the variant form of xeroderma pigmentosum.

11 new skin cancers in patients with xeroderma pigmentosum.

12 the human NER deficiency disorder, xeroderma pigmentosum.

13 repair and the hereditary disease xeroderma pigmentosum.

14 rone syndrome, the variant form of xeroderma pigmentosum.

15 rone syndrome, the variant form of xeroderma pigmentosum.

16 in tumors from human patients with xeroderma pigmentosum.

17 rone syndrome, the variant form of xeroderma pigmentosum.

18 d to the repair deficiency disease xeroderma pigmentosum.

19 oma/dysplastic nevus syndrome, and xeroderma pigmentosum.

20 the devastating inherited syndrome xeroderma pigmentosum.

21 phenotypes of the genetic disorder Xeroderma pigmentosum.

22 nteraction with the key NER factor xeroderma pigmentosum A (XPA) and facilitated recruitment of an XP

23 ex with the key DNA repair protein xeroderma pigmentosum A (XPA).

24 y the circadian oscillation of the xeroderma pigmentosum A DNA damage recognition protein.

25 The XPA (Xeroderma pigmentosum A) protein is one of the six core factors of

26 ta are implicated in nearly 20% of xeroderma pigmentosum, a human disease characterized by extreme se

27 ER) pathway by mutations can cause xeroderma pigmentosum, a syndrome predisposing affected individual

28 In patients with xeroderma pigmentosum, aged 4-30 years, a four-frequency pure-tone

29 genetic complementation group E of xeroderma pigmentosum, an autosomal recessive disease manifested c

30 We have assessed the ability of xeroderma pigmentosum and normal keratinocytes grown out from skin

31 understanding of mutations causing xeroderma pigmentosum and trichothiodystrophy in humans.

32 basis for defects in patients with xeroderma pigmentosum and trichothiodystrophy, with mutations foun

33 erstanding the differences between xeroderma pigmentosum and TTD and illustrate the value of suppress

34 e syndrome, UV-sensitive syndrome, xeroderma pigmentosum, and trichothiodystrophy, result from the mu

35 ore that includes the DNA helicase Xeroderma pigmentosum B (XPB) and a kinase subcomplex.

36 The xeroderma pigmentosum C (XPC) complex initiates nucleotide excisio

37 ogation of NER, by deletion of the xeroderma pigmentosum C (Xpc) gene, will heighten melanoma photoca

38 iquitinated proteins and decreased xeroderma pigmentosum C (XPC) levels in mice, indicative of HR23A

39 ntal sources are recognized by the xeroderma pigmentosum C (XPC) nucleotide excision repair complex.

40 The xeroderma pigmentosum C (XPC) protein has a central role in initia

41 Xeroderma pigmentosum C (XPC) protein initiates the global genomic

42 The xeroderma pigmentosum C (XPC) protein is essential for initiating

43 pression of the key GG-NER protein xeroderma pigmentosum C (XPC) through the AKT/p38 signaling axis.

44 h suppressing the transcription of xeroderma pigmentosum C (XPC), a factor essential for initiating t

45 NA damage repair and expression of xeroderma pigmentosum C (XPC), a protein critical for repairing UV

46 t in global genomic repair [Csb-/-/xeroderma pigmentosum C (Xpc)-/-] are more profoundly affected, ex

47 identified the DNA-repair complex xeroderma pigmentosum C (XPC)-RAD23B-CETN2 as a stem cell coactiva

48 sic genomic instability arising in xeroderma pigmentosum C (XPC).

49 ubiquitylation of SUMOylated XPC (xeroderma pigmentosum C) protein, a central DNA damage recognition

50 Xeroderma pigmentosum cells deficient in the NER genes XPG, XPA, X

51 ivator of the collagenase gene, to xeroderma pigmentosum cells did not detectably alter the initial l

52 propensity in the genetic diseases xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy,

53 Disease states, such as xeroderma pigmentosum, Cockayne's syndrome, Bloom's syndrome and W

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

55 re abnormalities suggestive of the xeroderma pigmentosum/Cockayne syndrome complex including sun sens

56 leles, were associated with severe xeroderma pigmentosum/Cockayne syndrome neurologic symptoms.

57 metabolism), genetically linked to xeroderma pigmentosum/Cockayne syndrome, Warsaw breakage syndrome,

58 d shuttle vector and replicated in xeroderma pigmentosum complementation group A (XPA) cells.

59 r than that previously measured in Xeroderma pigmentosum complementation group A (XPA) mice that are

60 Xeroderma pigmentosum complementation group A (XPA) protein plays

61 ively recruits the key NER protein xeroderma pigmentosum complementation group A (XPA) to sites of nu

62 ic repeat binding factor 1 (TRF1), xeroderma pigmentosum complementation group A (XPA), pygopus homol

63 inding proteins of excision repair xeroderma pigmentosum complementation group A and C proteins.

64 Xeroderma pigmentosum complementation group A protein (XPA) is an

65 otide excision repair factor, XPA (xeroderma pigmentosum complementation group A protein).

66 Expression of DNA repair gene XPA (xeroderma pigmentosum complementation group A) was significantly l

67 tor antagonists into UV-irradiated Xeroderma pigmentosum complementation group A-deficient mice, whic

68 s two DNA helicases encoded by the Xeroderma pigmentosum complementation group B (XPB) and D (XPD) ge

69 lls expressing only a mutated p89 (xeroderma pigmentosum complementation group B [XPB]), the largest

70 ively regulating the expression of xeroderma pigmentosum complementation group C (XPC) and DNA damage

71 The Xeroderma pigmentosum complementation group C (XPC) complex is a v

72 repair (NER) via deubiquitinating xeroderma pigmentosum complementation group C (XPC) protein, a cri

73 ins (UBA1 and UBA2) separated by a xeroderma pigmentosum complementation group C binding (XPCB) domai

74 nd accumulates in the nucleus in a xeroderma pigmentosum complementation group C protein (XPC)-depend

75 The xeroderma pigmentosum complementation group E (XP-E) gene product

76 ss-complementing protein 1 (ERCC1)/xeroderma pigmentosum complementation group F (XPF) nuclease essen

77 -complementation group 1) and XPF (xeroderma pigmentosum complementation group F), leads to severe NE

78 el and argue that the endonuclease xeroderma pigmentosum complementation group F-excision repair cros

79 ree fibroblast strains to the rare xeroderma pigmentosum complementation group G (only 10 other patie

80 wed residual ability to complement xeroderma pigmentosum complementation group G cells.

81 We studied three newly diagnosed xeroderma pigmentosum complementation group G patients with marked

82 ratinocytes have been studied from xeroderma pigmentosum complementation groups A (three biopsies), C

83 e repair of 8-MOP-ICLs and -MAs in xeroderma pigmentosum, complementation group A-deficient human ski

84 , our results establish a role for xeroderma pigmentosum, complementation group C (XPC) in telomere s

85 We also analyzed the role of the xeroderma pigmentosum, complementation group G (XPG) protein in th

86 s when tested in the cancer-prone, xeroderma-pigmentosum-complementation-group-C-deficient genetic ba

87 proteins involved in NER, such as xeroderma pigmentosum complimentation group A (XPA).

88 ed with various conditions such as xeroderma pigmentosum continue to be uncovered, the literature on

89 Xeroderma pigmentosum factor D (XPD) is a 5'-3' superfamily 2 heli

90 tion of CSA, CSB, or some types of xeroderma pigmentosum genes.

91 eport that TC-NER-deficient cells [xeroderma pigmentosum group A (XP-A), XP-D, XP-F, XP-G, Cockayne s

92 Xeroderma pigmentosum group A (XPA) is a core nucleotide excision

93 Xeroderma pigmentosum Group A (XPA) is a crucial factor in mammali

94 Human xeroderma pigmentosum group A (XPA) is an essential protein for nu

95 ng subunit of excision repair, the xeroderma pigmentosum group A (XPA) protein, and the excision repa

96 wing that the cellular function of xeroderma pigmentosum group A (XPA), a major nucleotide excision r

97 ntify mitochondrial dysfunction in xeroderma pigmentosum group A (XPA), a nucleotide excision DNA rep

98 id cells exhibited nuclear foci of xeroderma pigmentosum group A (XPA), a unique nucleotide excision

99 FIID, TFIIH, RNA polymerase II and xeroderma pigmentosum group A (XPA), in the triplex-mediated TCR p

100 activity, which in turn activated Xeroderma pigmentosum group A (XPA)-binding protein 1 and induced

101 ally interacts with the NER factor Xeroderma pigmentosum group A (XPA).

102 The three xeroderma pigmentosum group A and the xeroderma pigmentosum group

103 ted in Cockayne's syndrome but not Xeroderma pigmentosum group A cells providing evidence that ssDNA

104 The xeroderma pigmentosum group A complementing protein (XPA) and euka

105 nd cells with defective Artemis or xeroderma pigmentosum group A genes.

106 nuclear foci formed with RecQ4 and xeroderma pigmentosum group A in human cells.

107 Bioassays were conducted in xeroderma pigmentosum group A knockout mice and diethylnitrosamine

108 a-OHPdG levels in the liver DNA of xeroderma pigmentosum group A knockout mice and remarkably reduced

109 ient in DNA repair (derived from a xeroderma pigmentosum group A patient) failed to augment DNA repai

110 Two proteins, xeroderma pigmentosum group A protein (XPA) and replication protei

111 ER proteins, but low levels of the xeroderma pigmentosum group A protein (XPA) and the ERCC1-XPF endo

112 ct interaction between RPA and the xeroderma pigmentosum group A protein (XPA) facilitates the assemb

113 n that can form a complex with the xeroderma pigmentosum group A protein (XPA).

114 he damage recognition protein XPA (xeroderma pigmentosum group A protein).

115 decreases in zinc content for XPA (xeroderma pigmentosum group A) protein (CCCC zinc finger), but not

116 that the essential NER factor XPA (xeroderma pigmentosum group A) underwent nuclear accumulation upon

117 RecQ4 could directly interact with xeroderma pigmentosum group A, and this interaction was stimulated

118 The human xeroderma pigmentosum group B (XPB) helicase is essential for tran

119 mage to DNA, is lost or mutated in xeroderma pigmentosum group C (XP-C), a rare inherited disease cha

120 interaction of DDB2 with PARP-1 or xeroderma pigmentosum group C (XPC) and also decreases localizatio

121 e mRNA and protein products of the xeroderma pigmentosum group C (XPC) gene are UV-inducible in a tim

122 vestigated the contribution of the xeroderma pigmentosum group C (XPC) gene to DNA repair.

123 Recognition of DNA lesions by xeroderma pigmentosum group C (XPC) protein in chromatin is stimul

124 The Xeroderma Pigmentosum group C (XPC) protein is indispensable to gl

125 The xeroderma pigmentosum group C (XPC)-Rad23B complex is involved in

126 lex mimics the interaction between xeroderma pigmentosum group C and HR23B, thereby providing a first

127 catalytic core in complex with the xeroderma pigmentosum group C binding domain from HR23B.

128 rent interaction interfaces of the xeroderma pigmentosum group C binding domains in yeast and mammals

129 of cellular transformation of this xeroderma pigmentosum group C cell strain involves the progressive

130 ed with the transformation of this xeroderma pigmentosum group C cell strain, we examined the express

131 Cells from humans with xeroderma pigmentosum group C do not perform NER in the bulk of th

132 ed from normal appearing skin of a xeroderma pigmentosum group C patient that repeatedly underwent ch

133 -length centrin-2 complexed with a xeroderma pigmentosum group C peptide.

134 Two xeroderma pigmentosum group C peptides both bound to centrin-2 als

135 r interactions between centrin and xeroderma pigmentosum group C protein, we characterized the crysta

136 excision repair by binding to the xeroderma pigmentosum group C protein.

137 ge recognition in complex with the xeroderma pigmentosum group C protein.

138 Xeroderma pigmentosum group C samples proved heterogeneous: one sh

139 epair factor Rad4 (termed XPC, for xeroderma pigmentosum group C, in humans).

140 mplicated in Cockayne syndrome and xeroderma pigmentosum group C, respectively, modulates cisplatin-i

141 ncoding allele at codon 751 of the xeroderma pigmentosum group D (XPD) DNA repair gene were significa

142 The xeroderma pigmentosum group D (XPD) gene encodes a DNA helicase th

143 The xeroderma pigmentosum group D (XPD) helicase is a component of the

144 Xeroderma pigmentosum group D (XPD) helicase is a component of the

145 The xeroderma pigmentosum group D (XPD) helicase is a subunit of trans

146 The xeroderma pigmentosum group D (XPD) protein is a subunit of transc

147 The Xeroderma pigmentosum group D (XPD) protein is an essential partic

148 ymorphisms in the DNA repair gene, Xeroderma pigmentosum group D (XPD), modified the risk.

149 In a subset of 55 patients, the xeroderma pigmentosum group D (XPD)-751, x-ray cross-complementing

150 Xeroderma pigmentosum group D (XPD/ERCC2) encodes an ATP-dependent

151 The archaeal Rad3 (xeroderma pigmentosum group D protein (XPD)) helicase is a prototy

152 The archaeal Rad3 helicase XPD (xeroderma pigmentosum group D protein) from Ferroplasma acidarmanu

153 oderma pigmentosum group A and the xeroderma pigmentosum group D samples were at least six times more

154 posed that the 5'-3' helicase XPD (xeroderma pigmentosum group D) protein plays a decisive role in da

155 The xeroderma pigmentosum group E (XP-E) causing K244E mutant of DDB2

156 DB2 cause a cancer prone syndrome, xeroderma pigmentosum group E (XP-E).

157 Here, we show that the xeroderma pigmentosum group E (XPE) gene product, damaged DNA-bind

158 from cells of a subset (Ddb(-)) of xeroderma pigmentosum Group E (XPE) patients.

159 H2A at UV-damaged DNA sites in the xeroderma pigmentosum group E cells contributes to the faulty NER

160 ed by UV, is absent in a subset of xeroderma pigmentosum group E cells, and is required for global ge

161 The xeroderma pigmentosum group E gene product DDB2, a protein involve

162 Cell strains derived from xeroderma pigmentosum group E individuals also have enhanced resis

163 vity (UV-DDB) is deficient in some xeroderma pigmentosum group E individuals due to mutation of the p

164 the latter of which is mutated in xeroderma pigmentosum group E patients, is a substrate-recruiting

165 nt IMR-90 and two repair-deficient xeroderma pigmentosum group E strains (XP95TO and XP3RO).

166 n the human DDB2 gene give rise to xeroderma pigmentosum group E, a disease characterized by increase

167 ations in DDB2 are responsible for xeroderma pigmentosum group E, a disorder with defects in nucleoti

168 ations in DDB2 are responsible for Xeroderma Pigmentosum group E, but no mutants of mammalian DDB1 ha

169 The DDB2 gene, which is mutated in xeroderma pigmentosum group E, enhances global genomic repair of c

170 elated with the hereditary disease xeroderma pigmentosum group E.

171 in partially purified extracts of xeroderma pigmentosum group-D fibroblasts.

172 d in the repair-deficiency disease xeroderma pigmentosum (Group E).

173 from the repair deficiency disease xeroderma pigmentosum (group E).

174 r cross-complementing 1 and 3, and Xeroderma pigmentosum, group D (XRCC1-Arg399Gln, XRCC3-Thr241Met,

175 showed the high susceptibility of xeroderma pigmentosum groups A and D only at a higher fluence.

176 nsitive disorders, including other xeroderma pigmentosum groups, Cockayne syndrome, and a newly estab

177 ecrosis factor-alpha from cultured xeroderma pigmentosum keratinocytes tended to occur at lower fluen

178 the human NER deficiency disease, xeroderma pigmentosum, leading to speculation that the recombinati

179 sun-damaged skin of patients with xeroderma pigmentosum lowered the rate of development of two forms

180 In addition to xeroderma pigmentosum, mutations in the human XPG gene cause early

181 ed 1-61 years, were diagnosed with xeroderma pigmentosum (n = 77) or xeroderma pigmentosum/Cockayne s

182 sis: DNA polymerase eta, the yeast Xeroderma pigmentosum ortholog, and Rev1, a deoxycytidyl transfera

183 acerbated in Cockayne Syndrome and xeroderma pigmentosum patient-derived lymphoblastoid and fibroblas

184 e etiology of neurodegeneration in xeroderma pigmentosum patients.

185 r hereditary disease (albinism and xeroderma pigmentosum), prior to the start date, conducted using T

186 repair (NER) pathway can cause the xeroderma pigmentosum skin cancer predisposition syndrome.

187 In patients with xeroderma pigmentosum the frequency of all forms of skin cancer is

188 arget of mutation in patients with xeroderma pigmentosum, trichothiodystrophy, and Cockayne's syndrom

189 ficiency of the DNA repair protein xeroderma pigmentosum type A (XPA).

190 17 were in complementation groups xeroderma pigmentosum type A or type D and reported acute burning

191 histology in a patient with severe xeroderma pigmentosum-type neurological degeneration revealed mark

192 ts with xeroderma pigmentosum with xeroderma pigmentosum-type neurological degeneration was 54 years

193 ng on minimal sun exposure without xeroderma pigmentosum-type neurological degeneration was present i

194 Of the 17 patients with xeroderma pigmentosum-type neurological degeneration, 13 (76%) dev

195 rological decline in patients with xeroderma pigmentosum-type neurological degeneration.

196 creased risk (P = 0.002) of having xeroderma pigmentosum-type neurological degeneration.

197 d age were important predictors of xeroderma pigmentosum-type neurological degeneration.

198 (three biopsies), D (one biopsy), xeroderma pigmentosum variant (two biopsies), and Cockayne syndrom

199 e regions from three patients with xeroderma pigmentosum variant (XP-V) disease, who lack polymerase

200 from lymphocytes of patients with xeroderma pigmentosum variant (XP-V) disease, whose polymerase eta

201 n polymerase eta, a product of the xeroderma pigmentosum variant (XP-V) gene, catalyzed the most effi

202 ay and, as a consequence, protects xeroderma pigmentosum variant (XP-V) patient cells from UV-induced

203 polymerase POLH gene is mutated in xeroderma pigmentosum variant (XP-V) patients who exhibit an incre

204 ch is defective in humans with the Xeroderma pigmentosum variant (XP-V) phenotype, little is known ab

205 -induced replication arrest in the xeroderma pigmentosum variant (XPV) but not in normal cells leads

206 s, have been evaluated in HeLa and xeroderma pigmentosum variant (XPV) cell extracts.

207 roblasts (NHF1) were compared with xeroderma pigmentosum variant (XPV) cells (polymerase eta-null) af

208 e eta (PolH) is the product of the xeroderma pigmentosum variant (XPV) gene and a well-characterized

209 ase eta (Pol(eta)), encoded by the Xeroderma pigmentosum variant (XPV) gene, is known for its activit

210 The xeroderma pigmentosum variant (XPV) is a genetic disease involving

211 Xeroderma pigmentosum variant (XPV) patients have normal DNA excis

212 s, and PolH deficiency predisposes xeroderma pigmentosum variant (XPV) patients to cancer.

213 Xeroderma pigmentosum variant (XPV) patients with mutations in the

214 herited cancer-propensity syndrome xeroderma pigmentosum variant (XPV) results from error-prone TLS o

215 nant skin cancers in patients with xeroderma pigmentosum variant (XPV), an autosomal recessive disord

216 traviolet-sensitive syndrome, only xeroderma pigmentosum variant cells exhibited normal unscheduled D

217 ining gamma-HOPdG in wild type and xeroderma pigmentosum variant cells revealed a somewhat decreased

218 Experiments with xeroderma pigmentosum variant cells, which lack pol eta, confirmed

219 at decreased mutation frequency in xeroderma pigmentosum variant cells.

220 lymphocytes of three patients with xeroderma pigmentosum variant disease, whose polymerase eta had ge

221 r after ultraviolet irradiation in xeroderma pigmentosum variant fibroblasts, and is involved in the

222 sunlight-sensitive, cancer-prone, Xeroderma pigmentosum variant group phenotype.

223 These results suggest that xeroderma pigmentosum variant heterozygotes can be identified by t

224 ponsible for the genetic defect in xeroderma pigmentosum variant patients.

225 to be defective in humans with the Xeroderma pigmentosum variant phenotype.

226 The xeroderma pigmentosum variant samples showed intermediate suscepti

227 Patients with xeroderma pigmentosum variant show clinical photosensitivity, skin

228 simple method for the diagnosis of xeroderma pigmentosum variant that measures by autoradiography thr

229 rearrangements from a patient with xeroderma pigmentosum variant with a defect in pol eta was conduct

230 t but not in Poleta-deficient XPV (Xeroderma pigmentosum variant) cells, suggesting that USP7 facilit

231 DNA polymerase eta (Pol(eta), xeroderma pigmentosum variant, or Rad30) plays an important role i

232 f damaged DNA in the human disease xeroderma pigmentosum variant.

233 e patients that were identified as xeroderma pigmentosum variant.

234 Xeroderma pigmentosum-variant (XP-V) patients have sun sensitivity

235 causes the UV-sensitivity syndrome xeroderma pigmentosum-variant (XP-V) which is linked to the abilit

236 ta (poleta), which is defective in xeroderma pigmentosum variants, there is little information on the

237 ta (poleta), which is defective in xeroderma pigmentosum variants, there is little information on the

238 cer-prone human disorders, such as xeroderma pigmentosum, which are also characterized by symptoms of

239 in individuals with NER-defective xeroderma pigmentosum who accumulate dimers, errors made by Pol et

240 patients with the genetic disease xeroderma pigmentosum who are unable to carry out nucleotide excis

241 neal specimens of 11 patients with xeroderma pigmentosum who underwent keratoplasty (lamellar/full-th

242 sun exposure in all patients with xeroderma pigmentosum, who had at least one complete audiogram, ex

243 hearing loss in the patients with xeroderma pigmentosum with xeroderma pigmentosum-type neurological

244 iquimod enhanced the expression of xeroderma pigmentosum (XP) A and other DNA repair genes (quantitat

245 ads to hereditary diseases such as xeroderma pigmentosum (XP) and Cockayne syndrome (CS).

246 enetic disorders, the cancer-prone xeroderma pigmentosum (XP) and the cancer-free, multisystem develo

247 tities, including the cancer-prone xeroderma pigmentosum (XP) and the multisystem disorder trichothio

248 Xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) are rare

249 clinical features associated with xeroderma pigmentosum (XP) and trichothiodystrophy (TTD).

250 prone DNA repair-defective disease xeroderma pigmentosum (XP) are highly predisposed to UV radiation-

251 Cockayne syndrome (CS) and xeroderma pigmentosum (XP) are human photosensitive diseases with

252 ons of the TFIIH helicase subunits xeroderma pigmentosum (XP) B or XPD yield overlapping DNA repair a

253 of the involved proteins cause the xeroderma pigmentosum (XP) cancer predisposition syndrome.

254 The use of xeroderma pigmentosum (XP) cells, which are deficient in DNA repai

255 Xeroderma pigmentosum (XP) complementation group A (XPA) is an ess

256 Xeroderma pigmentosum (XP) complementation group E gene product, d

257 l strains derived from a subset of Xeroderma Pigmentosum (XP) complementation group E individuals (Dd

258 mutational defects associated with xeroderma pigmentosum (XP) disease, a series of stable bacterially

259 ed from Cockayne syndrome (CS) and Xeroderma pigmentosum (XP) group C patients, that are defective in

260 dividuals with the genetic disease xeroderma pigmentosum (XP) have impaired nucleotide excision repai

261 epair gene in 74% of families with xeroderma pigmentosum (XP) in the Maghreb region (Algeria, Morocco

262 Xeroderma pigmentosum (XP) is a heritable human disorder character

263 Xeroderma pigmentosum (XP) is a human disorder which is characteri

264 Xeroderma pigmentosum (XP) is a human genetic disease which is cau

265 Xeroderma pigmentosum (XP) is a rare autosomal recessive disease c

266 Xeroderma pigmentosum (XP) is a rare DNA repair disorder character

267 Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder

268 Xeroderma pigmentosum (XP) is a skin cancer-prone autosomal recess

269 sult in the cancer-prone disorders xeroderma pigmentosum (XP) or the XP-Cockayne syndrome complex.

270 Xeroderma pigmentosum (XP) patients are highly sensitive to sunlig

271 Xeroderma pigmentosum (XP) patients have 1,000-fold higher inciden

272 ous melanoma induction, we studied xeroderma pigmentosum (XP) patients who have defective DNA repair

273 heterozygous skin fibroblasts from xeroderma pigmentosum (XP) patients with different PTCs in the XPC

274 Xeroderma pigmentosum (XP) patients with inherited defects in nucl

275 fibroblasts from individuals with Xeroderma Pigmentosum (XP) that harbor mutations in the TFIIH DNA

276 The xeroderma pigmentosum (XP) variant (XPV) is a form of XP that has

277 photoproducts and is deficient in xeroderma pigmentosum (XP) variants.

278 uman fibroblasts and NER-defective xeroderma pigmentosum (XP) XPA and XPG cells.

279 initially classified as group E of xeroderma pigmentosum (XP), a hereditary, photosensitive disease w

280 Xeroderma pigmentosum (XP), a UV-sensitivity syndrome characterize

281 ly complementing UV sensitivity in xeroderma pigmentosum (XP), but this was not explored further.

282 humans, a deficiency in NER causes xeroderma pigmentosum (XP), characterized by extreme sensitivity t

283 enerative and progeroid disorders (xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiod

284 distinct phenotypes: cancer-prone xeroderma pigmentosum (XP), or aging disorders Cockayne syndrome (

285 ument the ocular manifestations of xeroderma pigmentosum (XP), presenting via the United Kingdom (UK)

286 Using repair-deficient xeroderma pigmentosum (XP)-A cells that stably express photoproduc

287 ed in the repair of psoralen ICLs [xeroderma pigmentosum (XP)-A, XP-C, XP-F, Cockayne's syndrome-B, F

288 h the autosomal recessive disorder xeroderma pigmentosum (XP).

289 in the skin cancer-prone disorder, xeroderma pigmentosum (XP).

290 features of another NER syndrome, xeroderma pigmentosum (XP).

291 -induced skin cancer-prone disease xeroderma pigmentosum (XP).

292 ng NER factors are associated with xeroderma pigmentosum (XP).

293 tion factor IIH result in combined xeroderma pigmentosum (XP)/Cockayne syndrome (CS), a severe DNA re

294 B2 gene generate the E subgroup of xeroderma pigmentosum (XP-E).

295 rase eta (pol eta), encoded by the xeroderma pigmentosum (XP-V) gene, plays an essential role in prev

296 t, POLH, cause the variant form of xeroderma pigmentosum (XP-V), and XP-V individuals suffer from a h

297 plicated in the hereditary disease xeroderma pigmentosum (XPG, also known as Ercc5).

298 variant form of the human syndrome xeroderma pigmentosum (XPV) is caused by a deficiency in DNA polym

299 rone syndrome, the variant form of xeroderma pigmentosum (XPV).

300 humans causes the variant form of xeroderma pigmentosum (XPV).