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 rone syndrome, the variant form of xeroderma pigmentosum.

5 esult in the cancer-prone disorder xeroderma pigmentosum.

6 itable, skin cancer-prone disorder xeroderma pigmentosum.

7 rone syndrome, the variant form of xeroderma pigmentosum.

8 rone syndrome, the variant form of xeroderma pigmentosum.

9 new skin cancers in patients with xeroderma pigmentosum.

10 the human NER deficiency disorder, xeroderma pigmentosum.

11 ockayne syndrome and some forms of xeroderma pigmentosum.

12 repair and the hereditary disease xeroderma pigmentosum.

13 rone syndrome, the variant form of xeroderma pigmentosum.

14 use the skin cancer-prone syndrome 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 the devastating inherited syndrome xeroderma pigmentosum.

20 phenotypes of the genetic disorder Xeroderma pigmentosum.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

58 Xeroderma pigmentosum complementation group A (XPA) protein plays

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

88 iously uncovered a family of three xeroderma pigmentosum G (XPG)-related nucleases (XRNs), known as A

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

117 ironolactone causes degradation of xeroderma pigmentosum group B-complementing protein (XPB), a compo

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

137 Xeroderma pigmentosum group C samples proved heterogeneous: one sh

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

169 elated with the hereditary disease xeroderma pigmentosum group E.

170 Xeroderma pigmentosum group G (XPG) protein is both a functional p

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 Structure-function data indicate xeroderma pigmentosum patient mutations frequently compromise the

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

185 e etiology of neurodegeneration in xeroderma pigmentosum patients.

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

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

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

189 disease mutations associated with xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome o

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

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

192 17 were in complementation groups xeroderma pigmentosum type A or type D and reported acute burning

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

221 at decreased mutation frequency in xeroderma pigmentosum variant cells.

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

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

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

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

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

227 The xeroderma pigmentosum variant samples showed intermediate suscepti

228 Patients with xeroderma pigmentosum variant show clinical photosensitivity, skin

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

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

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

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

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

234 e patients that were identified as xeroderma pigmentosum variant.

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

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

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

238 (p.Arg799Trp) variant that causes Xeroderma pigmentosum were more susceptible to sunburn.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

291 periocular tumors in patients with xeroderma pigmentosum (XP).

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

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

294 tinct human diseases: Cancer-prone xeroderma pigmentosum (XP-G) or the fatal neurodevelopmental disor

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

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