ライフサイエンスコーパス: xeroderma

1 by a report demonstrating a low level of the xeroderma pigmentosa group A (XPA) protein and induction

2 ), a protein implicated in the human disease xeroderma pigmentosa.

3 The R273H mutant of p48 identified from a xeroderma pigmentosium (group E) patient is not subjecte

4 is mutated in the repair-deficiency disease xeroderma pigmentosum (Group E).

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

6 tients, aged 1-61 years, were diagnosed with xeroderma pigmentosum (n = 77) or xeroderma pigmentosum/

7 Imiquimod enhanced the expression of xeroderma pigmentosum (XP) A and other DNA repair genes

8 nd CSA, leads to hereditary diseases such as xeroderma pigmentosum (XP) and Cockayne syndrome (CS).

9 two rare genetic disorders, the cancer-prone xeroderma pigmentosum (XP) and the cancer-free, multisys

10 linical entities, including the cancer-prone xeroderma pigmentosum (XP) and the multisystem disorder

11 Xeroderma pigmentosum (XP) and trichothiodystrophy (TTD)

12 he diverse clinical features associated with xeroderma pigmentosum (XP) and trichothiodystrophy (TTD)

13 Cockayne syndrome (CS) and xeroderma pigmentosum (XP) are human photosensitive dise

14 ted mutations of the TFIIH helicase subunits xeroderma pigmentosum (XP) B or XPD yield overlapping DN

15 Mutations of the involved proteins cause the xeroderma pigmentosum (XP) cancer predisposition syndrom

16 The use of xeroderma pigmentosum (XP) cells, which are deficient in

17 Xeroderma pigmentosum (XP) complementation group A (XPA)

18 Xeroderma pigmentosum (XP) complementation group E gene

19 t from cell strains derived from a subset of Xeroderma Pigmentosum (XP) complementation group E indiv

20 ction and mutational defects associated with xeroderma pigmentosum (XP) disease, a series of stable b

21 ines derived from Cockayne syndrome (CS) and Xeroderma pigmentosum (XP) group C patients, that are de

22 Individuals with the genetic disease xeroderma pigmentosum (XP) have impaired nucleotide exci

23 XPC DNA repair gene in 74% of families with xeroderma pigmentosum (XP) in the Maghreb region (Algeri

24 Xeroderma pigmentosum (XP) is a heritable human disorder

25 Xeroderma pigmentosum (XP) is a human disorder which is

26 Xeroderma pigmentosum (XP) is a human genetic disease wh

27 Xeroderma pigmentosum (XP) is a rare autosomal recessive

28 Xeroderma pigmentosum (XP) is a rare DNA repair disorder

29 Xeroderma pigmentosum (XP) is a rare, autosomal recessiv

30 Xeroderma pigmentosum (XP) is a skin cancer-prone autoso

31 ene can result in the cancer-prone disorders xeroderma pigmentosum (XP) or the XP-Cockayne syndrome c

32 Xeroderma pigmentosum (XP) patients are highly sensitive

33 Xeroderma pigmentosum (XP) patients have 1,000-fold high

34 in cutaneous melanoma induction, we studied xeroderma pigmentosum (XP) patients who have defective D

35 compound heterozygous skin fibroblasts from xeroderma pigmentosum (XP) patients with different PTCs

36 Xeroderma pigmentosum (XP) patients with inherited defec

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

38 h normal human fibroblasts and NER-defective xeroderma pigmentosum (XP) XPA and XPG cells.

39 dividuals initially classified as group E of xeroderma pigmentosum (XP), a hereditary, photosensitive

40 Xeroderma pigmentosum (XP), a UV-sensitivity syndrome ch

41 NA partially complementing UV sensitivity in xeroderma pigmentosum (XP), but this was not explored fu

42 In humans, a deficiency in NER causes xeroderma pigmentosum (XP), characterized by extreme sen

43 e neurodegenerative and progeroid disorders (xeroderma pigmentosum (XP), Cockayne syndrome (CS) and t

44 ause three distinct phenotypes: cancer-prone xeroderma pigmentosum (XP), or aging disorders Cockayne

45 To document the ocular manifestations of xeroderma pigmentosum (XP), presenting via the United Ki

46 Using repair-deficient xeroderma pigmentosum (XP)-A cells that stably express p

47 be involved in the repair of psoralen ICLs [xeroderma pigmentosum (XP)-A, XP-C, XP-F, Cockayne's syn

48 milies with the autosomal recessive disorder xeroderma pigmentosum (XP).

49 on result in the skin cancer-prone disorder, xeroderma pigmentosum (XP).

50 e clinical features of another NER syndrome, xeroderma pigmentosum (XP).

51 nes encoding NER factors are associated with xeroderma pigmentosum (XP).

52 cular and periocular tumors in patients with xeroderma pigmentosum (XP).

53 transcription factor IIH result in combined xeroderma pigmentosum (XP)/Cockayne syndrome (CS), a sev

54 e human DDB2 gene generate the E subgroup of xeroderma pigmentosum (XP-E).

55 of two distinct human diseases: Cancer-prone xeroderma pigmentosum (XP-G) or the fatal neurodevelopme

56 DNA polymerase eta (pol eta), encoded by the xeroderma pigmentosum (XP-V) gene, plays an essential ro

57 counterpart, POLH, cause the variant form of xeroderma pigmentosum (XP-V), and XP-V individuals suffe

58 he gene implicated in the hereditary disease xeroderma pigmentosum (XPG, also known as Ercc5).

59 The variant form of the human syndrome xeroderma pigmentosum (XPV) is caused by a deficiency in

60 s POLH) in humans causes the variant form of xeroderma pigmentosum (XPV).

61 e cancer prone syndrome, the variant form of xeroderma pigmentosum (XPV).

62 ed ATR's interaction with the key NER factor xeroderma pigmentosum A (XPA) and facilitated recruitmen

63 ated complex with the key DNA repair protein xeroderma pigmentosum A (XPA).

64 in part by the circadian oscillation of the xeroderma pigmentosum A DNA damage recognition protein.

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

66 We have assessed the ability of xeroderma pigmentosum and normal keratinocytes grown out

67 molecular understanding of mutations causing xeroderma pigmentosum and trichothiodystrophy in humans.

68 tructural basis for defects in patients with xeroderma pigmentosum and trichothiodystrophy, with muta

69 ns for understanding the differences between xeroderma pigmentosum and TTD and illustrate the value o

70 sts of a core that includes the DNA helicase Xeroderma pigmentosum B (XPB) and a kinase subcomplex.

71 The xeroderma pigmentosum C (XPC) complex initiates nucleoti

72 s that abrogation of NER, by deletion of the xeroderma pigmentosum C (Xpc) gene, will heighten melano

73 tion of ubiquitinated proteins and decreased xeroderma pigmentosum C (XPC) levels in mice, indicative

74 environmental sources are recognized by the xeroderma pigmentosum C (XPC) nucleotide excision repair

75 The xeroderma pigmentosum C (XPC) protein has a central role

76 Xeroderma pigmentosum C (XPC) protein initiates the glob

77 The xeroderma pigmentosum C (XPC) protein is essential for i

78 pressed expression of the key GG-NER protein xeroderma pigmentosum C (XPC) through the AKT/p38 signal

79 air through suppressing the transcription of xeroderma pigmentosum C (XPC), a factor essential for in

80 -induced DNA damage repair and expression of xeroderma pigmentosum C (XPC), a protein critical for re

81 o deficient in global genomic repair [Csb-/-/xeroderma pigmentosum C (Xpc)-/-] are more profoundly af

82 e recently identified the DNA-repair complex xeroderma pigmentosum C (XPC)-RAD23B-CETN2 as a stem cel

83 the intrinsic genomic instability arising in xeroderma pigmentosum C (XPC).

84 1 promoted ubiquitylation of SUMOylated XPC (xeroderma pigmentosum C) protein, a central DNA damage r

85 Xeroderma pigmentosum cells deficient in the NER genes X

86 rigin-based shuttle vector and replicated in xeroderma pigmentosum complementation group A (XPA) cell

87 is greater than that previously measured in Xeroderma pigmentosum complementation group A (XPA) mice

88 Xeroderma pigmentosum complementation group A (XPA) prot

89 which actively recruits the key NER protein xeroderma pigmentosum complementation group A (XPA) to s

90 1, telomeric repeat binding factor 1 (TRF1), xeroderma pigmentosum complementation group A (XPA), pyg

91 e damage-binding proteins of excision repair xeroderma pigmentosum complementation group A and C prot

92 Xeroderma pigmentosum complementation group A protein (X

93 the nucleotide excision repair factor, XPA (xeroderma pigmentosum complementation group A protein).

94 Expression of DNA repair gene XPA (xeroderma pigmentosum complementation group A) was signi

95 5-HT receptor antagonists into UV-irradiated Xeroderma pigmentosum complementation group A-deficient

96 at includes two DNA helicases encoded by the Xeroderma pigmentosum complementation group B (XPB) and

97 ompared cells expressing only a mutated p89 (xeroderma pigmentosum complementation group B [XPB]), th

98 ough positively regulating the expression of xeroderma pigmentosum complementation group C (XPC) and

99 The Xeroderma pigmentosum complementation group C (XPC) comp

100 e excision repair (NER) via deubiquitinating xeroderma pigmentosum complementation group C (XPC) prot

101 iated domains (UBA1 and UBA2) separated by a xeroderma pigmentosum complementation group C binding (X

102 ytoplasm and accumulates in the nucleus in a xeroderma pigmentosum complementation group C protein (X

103 The xeroderma pigmentosum complementation group E (XP-E) gen

104 repair cross-complementing protein 1 (ERCC1)/xeroderma pigmentosum complementation group F (XPF) nucl

105 pair cross-complementation group 1) and XPF (xeroderma pigmentosum complementation group F), leads to

106 urrent model and argue that the endonuclease xeroderma pigmentosum complementation group F-excision r

107 ned all three fibroblast strains to the rare xeroderma pigmentosum complementation group G (only 10 o

108 ) that showed residual ability to complement xeroderma pigmentosum complementation group G cells.

109 We studied three newly diagnosed xeroderma pigmentosum complementation group G patients w

110 Keratinocytes have been studied from xeroderma pigmentosum complementation groups A (three bi

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

112 s associated with various conditions such as xeroderma pigmentosum continue to be uncovered, the lite

113 Xeroderma pigmentosum factor D (XPD) is a 5'-3' superfam

114 have previously uncovered a family of three xeroderma pigmentosum G (XPG)-related nucleases (XRNs),

115 the disruption of CSA, CSB, or some types of xeroderma pigmentosum genes.

116 Here, we report that TC-NER-deficient cells [xeroderma pigmentosum group A (XP-A), XP-D, XP-F, XP-G,

117 Xeroderma pigmentosum group A (XPA) is a core nucleotide

118 Xeroderma pigmentosum Group A (XPA) is a crucial factor

119 Human xeroderma pigmentosum group A (XPA) is an essential prot

120 ate-limiting subunit of excision repair, the xeroderma pigmentosum group A (XPA) protein, and the exc

121 idence showing that the cellular function of xeroderma pigmentosum group A (XPA), a major nucleotide

122 We identify mitochondrial dysfunction in xeroderma pigmentosum group A (XPA), a nucleotide excisi

123 se progeroid cells exhibited nuclear foci of xeroderma pigmentosum group A (XPA), a unique nucleotide

124 ncluding TFIID, TFIIH, RNA polymerase II and xeroderma pigmentosum group A (XPA), in the triplex-medi

125 te cyclase activity, which in turn activated Xeroderma pigmentosum group A (XPA)-binding protein 1 an

126 ATR physically interacts with the NER factor Xeroderma pigmentosum group A (XPA).

127 The three xeroderma pigmentosum group A and the xeroderma pigmento

128 is activated in Cockayne's syndrome but not Xeroderma pigmentosum group A cells providing evidence t

129 The xeroderma pigmentosum group A complementing protein (XPA

130 JW cells and cells with defective Artemis or xeroderma pigmentosum group A genes.

131 on of the nuclear foci formed with RecQ4 and xeroderma pigmentosum group A in human cells.

132 Bioassays were conducted in xeroderma pigmentosum group A knockout mice and diethyln

133 eased gamma-OHPdG levels in the liver DNA of xeroderma pigmentosum group A knockout mice and remarkab

134 asts deficient in DNA repair (derived from a xeroderma pigmentosum group A patient) failed to augment

135 Two proteins, xeroderma pigmentosum group A protein (XPA) and replicat

136 A direct interaction between RPA and the xeroderma pigmentosum group A protein (XPA) facilitates

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

138 that of the damage recognition protein XPA (xeroderma pigmentosum group A protein).

139 omparable decreases in zinc content for XPA (xeroderma pigmentosum group A) protein (CCCC zinc finger

140 we showed that the essential NER factor XPA (xeroderma pigmentosum group A) underwent nuclear accumul

141 istently, RecQ4 could directly interact with xeroderma pigmentosum group A, and this interaction was

142 The human xeroderma pigmentosum group B (XPB) helicase is essentia

143 Since spironolactone causes degradation of xeroderma pigmentosum group B-complementing protein (XPB

144 of UVB damage to DNA, is lost or mutated in xeroderma pigmentosum group C (XP-C), a rare inherited d

145 V-induced interaction of DDB2 with PARP-1 or xeroderma pigmentosum group C (XPC) and also decreases l

146 te that the mRNA and protein products of the xeroderma pigmentosum group C (XPC) gene are UV-inducibl

147 We investigated the contribution of the xeroderma pigmentosum group C (XPC) gene to DNA repair.

148 Recognition of DNA lesions by xeroderma pigmentosum group C (XPC) protein in chromatin

149 The Xeroderma Pigmentosum group C (XPC) protein is indispens

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

151 HR23B complex mimics the interaction between xeroderma pigmentosum group C and HR23B, thereby providi

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

153 The different interaction interfaces of the xeroderma pigmentosum group C binding domains in yeast a

154 e process of cellular transformation of this xeroderma pigmentosum group C cell strain involves the p

155 s associated with the transformation of this xeroderma pigmentosum group C cell strain, we examined t

156 Cells from humans with xeroderma pigmentosum group C do not perform NER in the

157 5), isolated from normal appearing skin of a xeroderma pigmentosum group C patient that repeatedly un

158 oaded full-length centrin-2 complexed with a xeroderma pigmentosum group C peptide.

159 Two xeroderma pigmentosum group C peptides both bound to cen

160 f molecular interactions between centrin and xeroderma pigmentosum group C protein, we characterized

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

162 le in damage recognition in complex with the xeroderma pigmentosum group C protein.

163 Xeroderma pigmentosum group C samples proved heterogeneo

164 the DNA repair factor Rad4 (termed XPC, for xeroderma pigmentosum group C, in humans).

165 hich are implicated in Cockayne syndrome and xeroderma pigmentosum group C, respectively, modulates c

166 lutamine-encoding allele at codon 751 of the xeroderma pigmentosum group D (XPD) DNA repair gene were

167 The xeroderma pigmentosum group D (XPD) gene encodes a DNA h

168 The xeroderma pigmentosum group D (XPD) helicase is a compon

169 Xeroderma pigmentosum group D (XPD) helicase is a compon

170 The xeroderma pigmentosum group D (XPD) helicase is a subuni

171 The xeroderma pigmentosum group D (XPD) protein is a subunit

172 The Xeroderma pigmentosum group D (XPD) protein is an essent

173 hether polymorphisms in the DNA repair gene, Xeroderma pigmentosum group D (XPD), modified the risk.

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

175 Xeroderma pigmentosum group D (XPD/ERCC2) encodes an ATP

176 The archaeal Rad3 (xeroderma pigmentosum group D protein (XPD)) helicase is

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

178 three xeroderma pigmentosum group A and the xeroderma pigmentosum group D samples were at least six

179 s been proposed that the 5'-3' helicase XPD (xeroderma pigmentosum group D) protein plays a decisive

180 The xeroderma pigmentosum group E (XP-E) causing K244E mutan

181 tions in DDB2 cause a cancer prone syndrome, xeroderma pigmentosum group E (XP-E).

182 Here, we show that the xeroderma pigmentosum group E (XPE) gene product, damage

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

184 g histone H2A at UV-damaged DNA sites in the xeroderma pigmentosum group E cells contributes to the f

185 DNA damaged by UV, is absent in a subset of xeroderma pigmentosum group E cells, and is required for

186 The xeroderma pigmentosum group E gene product DDB2, a prote

187 Cell strains derived from xeroderma pigmentosum group E individuals also have enha

188 nding activity (UV-DDB) is deficient in some xeroderma pigmentosum group E individuals due to mutatio

189 and DDB2, the latter of which is mutated in xeroderma pigmentosum group E patients, is a substrate-r

190 r-proficient IMR-90 and two repair-deficient xeroderma pigmentosum group E strains (XP95TO and XP3RO)

191 utations in the human DDB2 gene give rise to xeroderma pigmentosum group E, a disease characterized b

192 Mutations in DDB2 are responsible for xeroderma pigmentosum group E, a disorder with defects i

193 Mutations in DDB2 are responsible for Xeroderma Pigmentosum group E, but no mutants of mammali

194 The DDB2 gene, which is mutated in xeroderma pigmentosum group E, enhances global genomic r

195 been correlated with the hereditary disease xeroderma pigmentosum group E.

196 Xeroderma pigmentosum group G (XPG) protein is both a fu

197 is missing in partially purified extracts of xeroderma pigmentosum group-D fibroblasts.

198 ome sample showed the high susceptibility of xeroderma pigmentosum groups A and D only at a higher fl

199 ry photosensitive disorders, including other xeroderma pigmentosum groups, Cockayne syndrome, and a n

200 nd tumor necrosis factor-alpha from cultured xeroderma pigmentosum keratinocytes tended to occur at l

201 enzymes to sun-damaged skin of patients with xeroderma pigmentosum lowered the rate of development of

202 ion synthesis: DNA polymerase eta, the yeast Xeroderma pigmentosum ortholog, and Rev1, a deoxycytidyl

203 Structure-function data indicate xeroderma pigmentosum patient mutations frequently compr

204 kage is exacerbated in Cockayne Syndrome and xeroderma pigmentosum patient-derived lymphoblastoid and

205 role in the etiology of neurodegeneration in xeroderma pigmentosum patients.

206 excision repair (NER) pathway can cause the xeroderma pigmentosum skin cancer predisposition syndrom

207 In patients with xeroderma pigmentosum the frequency of all forms of skin

208 ith the deficiency of the DNA repair protein xeroderma pigmentosum type A (XPA).

209 s, and all 17 were in complementation groups xeroderma pigmentosum type A or type D and reported acut

210 opsies), C (three biopsies), D (one biopsy), xeroderma pigmentosum variant (two biopsies), and Cockay

211 ed variable regions from three patients with xeroderma pigmentosum variant (XP-V) disease, who lack p

212 DNA from lymphocytes of patients with xeroderma pigmentosum variant (XP-V) disease, whose poly

213 Human polymerase eta, a product of the xeroderma pigmentosum variant (XP-V) gene, catalyzed the

214 dent pathway and, as a consequence, protects xeroderma pigmentosum variant (XP-V) patient cells from

215 cific DNA polymerase POLH gene is mutated in xeroderma pigmentosum variant (XP-V) patients who exhibi

216 leta), which is defective in humans with the Xeroderma pigmentosum variant (XP-V) phenotype, little i

217 UV-induced replication arrest in the xeroderma pigmentosum variant (XPV) but not in normal ce

218 ging agents, have been evaluated in HeLa and xeroderma pigmentosum variant (XPV) cell extracts.

219 human fibroblasts (NHF1) were compared with xeroderma pigmentosum variant (XPV) cells (polymerase et

220 polymerase eta (PolH) is the product of the xeroderma pigmentosum variant (XPV) gene and a well-char

221 NA polymerase eta (Pol(eta)), encoded by the Xeroderma pigmentosum variant (XPV) gene, is known for i

222 The xeroderma pigmentosum variant (XPV) is a genetic disease

223 Xeroderma pigmentosum variant (XPV) patients have normal

224 A synthesis, and PolH deficiency predisposes xeroderma pigmentosum variant (XPV) patients to cancer.

225 Xeroderma pigmentosum variant (XPV) patients with mutati

226 The inherited cancer-propensity syndrome xeroderma pigmentosum variant (XPV) results from error-p

227 t of malignant skin cancers in patients with xeroderma pigmentosum variant (XPV), an autosomal recess

228 blished ultraviolet-sensitive syndrome, only xeroderma pigmentosum variant cells exhibited normal uns

229 DNAs containing gamma-HOPdG in wild type and xeroderma pigmentosum variant cells revealed a somewhat

230 Experiments with xeroderma pigmentosum variant cells, which lack pol eta,

231 d a somewhat decreased mutation frequency in xeroderma pigmentosum variant cells.

232 ral blood lymphocytes of three patients with xeroderma pigmentosum variant disease, whose polymerase

233 tion repair after ultraviolet irradiation in xeroderma pigmentosum variant fibroblasts, and is involv

234 These results suggest that xeroderma pigmentosum variant heterozygotes can be ident

235 ne are responsible for the genetic defect in xeroderma pigmentosum variant patients.

236 and shown to be defective in humans with the Xeroderma pigmentosum variant phenotype.

237 The xeroderma pigmentosum variant samples showed intermediat

238 Patients with xeroderma pigmentosum variant show clinical photosensiti

239 ernative, simple method for the diagnosis of xeroderma pigmentosum variant that measures by autoradio

240 roductive rearrangements from a patient with xeroderma pigmentosum variant with a defect in pol eta w

241 -proficient but not in Poleta-deficient XPV (Xeroderma pigmentosum variant) cells, suggesting that US

242 DNA polymerase eta (Pol(eta), xeroderma pigmentosum variant, or Rad30) plays an import

243 lication of damaged DNA in the human disease xeroderma pigmentosum variant.

244 tosensitive patients that were identified as xeroderma pigmentosum variant.

245 lymerase eta (poleta), which is defective in xeroderma pigmentosum variants, there is little informat

246 c.2395C>T (p.Arg799Trp) variant that causes Xeroderma pigmentosum were more susceptible to sunburn.

247 rticularly in individuals with NER-defective xeroderma pigmentosum who accumulate dimers, errors made

248 ssues from patients with the genetic disease xeroderma pigmentosum who are unable to carry out nucleo

249 irteen corneal specimens of 11 patients with xeroderma pigmentosum who underwent keratoplasty (lamell

250 ignificant hearing loss in the patients with xeroderma pigmentosum with xeroderma pigmentosum-type ne

251 splants, or hereditary disease (albinism and xeroderma pigmentosum), prior to the start date, conduct

252 sorders of DNA repair (Cockayne syndrome and xeroderma pigmentosum).

253 ding pol eta are implicated in nearly 20% of xeroderma pigmentosum, a human disease characterized by

254 repair (NER) pathway by mutations can cause xeroderma pigmentosum, a syndrome predisposing affected

255 In patients with xeroderma pigmentosum, aged 4-30 years, a four-frequency

256 cause the genetic complementation group E of xeroderma pigmentosum, an autosomal recessive disease ma

257 ng Cockayne syndrome, UV-sensitive syndrome, xeroderma pigmentosum, and trichothiodystrophy, result f

258 nd cancer propensity in the genetic diseases xeroderma pigmentosum, Cockayne syndrome, and trichothio

259 Disease states, such as xeroderma pigmentosum, Cockayne's syndrome, Bloom's synd

260 was little repair of 8-MOP-ICLs and -MAs in xeroderma pigmentosum, complementation group A-deficient

261 n together, our results establish a role for xeroderma pigmentosum, complementation group C (XPC) in

262 We also analyzed the role of the xeroderma pigmentosum, complementation group G (XPG) pro

263 -ray repair cross-complementing 1 and 3, and Xeroderma pigmentosum, group D (XRCC1-Arg399Gln, XRCC3-T

264 models for the human NER deficiency disease, xeroderma pigmentosum, leading to speculation that the r

265 In addition to xeroderma pigmentosum, mutations in the human XPG gene c

266 Mapping disease mutations associated with xeroderma pigmentosum, trichothiodystrophy and Cockayne

267 e is the target of mutation in patients with xeroderma pigmentosum, trichothiodystrophy, and Cockayne

268 on minimal sun exposure in all patients with xeroderma pigmentosum, who had at least one complete aud

269 oral bone histology in a patient with severe xeroderma pigmentosum-type neurological degeneration rev

270 cute burning on minimal sun exposure without xeroderma pigmentosum-type neurological degeneration was

271 the patients with xeroderma pigmentosum with xeroderma pigmentosum-type neurological degeneration was

272 Of the 17 patients with xeroderma pigmentosum-type neurological degeneration, 13

273 allels neurological decline in patients with xeroderma pigmentosum-type neurological degeneration.

274 39-fold increased risk (P = 0.002) of having xeroderma pigmentosum-type neurological degeneration.

275 xposure and age were important predictors of xeroderma pigmentosum-type neurological degeneration.

276 Xeroderma pigmentosum-variant (XP-V) patients have sun s

277 (pol eta) causes the UV-sensitivity syndrome xeroderma pigmentosum-variant (XP-V) which is linked to

278 langiectasia, Rothmund-Thomson syndrome, and xeroderma pigmentosum.

279 disorders such as ataxia telangiectasia and xeroderma pigmentosum.

280 e cancer-prone syndrome, the variant form of xeroderma pigmentosum.

281 utations result in the cancer-prone disorder xeroderma pigmentosum.

282 of the heritable, skin cancer-prone disorder xeroderma pigmentosum.

283 e cancer-prone syndrome, the variant form of xeroderma pigmentosum.

284 e cancer-prone syndrome, the variant form of xeroderma pigmentosum.

285 he rate of new skin cancers in patients with xeroderma pigmentosum.

286 ncluding Cockayne syndrome and some forms of xeroderma pigmentosum.

287 model for the human NER deficiency disorder, xeroderma pigmentosum.

288 e excision repair and the hereditary disease xeroderma pigmentosum.

289 e cancer-prone syndrome, the variant form of xeroderma pigmentosum.

290 tations cause the skin cancer-prone syndrome xeroderma pigmentosum.

291 e cancer prone syndrome, the variant form of xeroderma pigmentosum.

292 rted in skin tumors from human patients with xeroderma pigmentosum.

293 e cancer-prone syndrome, the variant form of xeroderma pigmentosum.

294 trated by the devastating inherited syndrome xeroderma pigmentosum.

295 clinical phenotypes of the genetic disorder Xeroderma pigmentosum.

296 nosed with xeroderma pigmentosum (n = 77) or xeroderma pigmentosum/Cockayne syndrome (n = 2).

297 ) had severe abnormalities suggestive of the xeroderma pigmentosum/Cockayne syndrome complex includin

298 in both alleles, were associated with severe xeroderma pigmentosum/Cockayne syndrome neurologic sympt

299 (telomere metabolism), genetically linked to xeroderma pigmentosum/Cockayne syndrome, Warsaw breakage

300 morigenesis when tested in the cancer-prone, xeroderma-pigmentosum-complementation-group-C-deficient