ライフサイエンスコーパス: XP

1 XP and BN are useful for screening for RSV in respirator

2 XP cells are hypersensitive to killing by UV radiation,

3 XP cells were found to have defects in seven of the prot

4 XP mutations map along the HD1 ATP-binding edge and HD2

5 XP patients have a nucleotide excision repair defect and

6 XP shares phenotypical characteristics with telomere-ass

7 XP variant (XP-V) cells lack the damage-specific polymer

8 XP-C patients are specifically hypersensitive to ocular

9 XP-GWAS is expected to be particularly valuable for dete

10 XP-GWAS was able to resolve several linked QTL and detec

11 XP/CS mutations both impair helicase activity and likely

12 n developed and implemented as the Glide 4.0 XP scoring function and docking protocol.

13 eotide excision repair (TC-NER) (category 1: XP-A, B, D, F, and G) and preserved TC-NER (category 2:

14 et oxygen, (2) the formation of a stable L(2)XPd(I)OOH triplet species, (3) a spin transition resulti

15 a spin transition resulting in a stable L(2)XPd(II)OOH singlet species, and (4) the loss of H(2)O(2)

16 F, and G) and preserved TC-NER (category 2: XP-C, E, and V).

17 erating systems including Windows 9X/NT/2000/XP.

18 We identified 238 (XP-EHH) and 213 (XP-CLR) positively selected genes, of which 97 were dete

19 We identified 238 (XP-EHH) and 213 (XP-CLR) positively selected genes, of w

20 as in situ and 12 invasive melanomas) from 8 XP patients showed mutations in the PTEN tumor suppresso

21 ary XP service has provided follow-up for 89 XP patients, representing most of the XP patients in the

22 Group A XP cells are defective in the XPA protein essential for

23 icient cells [xeroderma pigmentosum group A (XP-A), XP-D, XP-F, XP-G, Cockayne syndrome group A (CS-A

24 cells [xeroderma pigmentosum group A (XP-A), XP-D, XP-F, XP-G, Cockayne syndrome group A (CS-A), and

25 psoralen ICLs [xeroderma pigmentosum (XP)-A, XP-C, XP-F, Cockayne's syndrome-B, Fanconi anemia] but d

26 (1/2)) of 7.1 h, whereas NER-deficient XP-A, XP-C, and XP-F cells were severely compromised in their

27 spectrum of mutations in the POLH gene among XP-V patients in different countries, suggesting that ma

28 Both ChargeSwitch and AMPure XP tested negative in the fluorescence assay while the W

29 o contaminants in magnetic bead-based AMPure XP solutions.

30 PCR Purification, and Beckman Coulter AMPure XP.

31 Taken together, our findings suggest AMPure XP would be the best choice for analyses requiring very

32 oup A (XPA), XP complementation group C, and XP complementation group G cells are deficient in ODD re

33 7.1 h, whereas NER-deficient XP-A, XP-C, and XP-F cells were severely compromised in their ability to

34 's capacity for NER, by transfecting CHO and XP cells with DNA constructs containing a single cyclo-d

35 fically hypersensitive to ocular damage, and XP-F and XP-G patients appear to be much less susceptibl

36 kin cancer is most common in XP-C, XP-E, and XP-V patients, previously considered to be the milder gr

37 d by consensus of results of both XP-EHH and XP-CLR methods.

38 a) breeds using cross-population (XP-EHH and XP-CLR) statistical methods.

39 een population statistical tests (XP-EHH and XP-CLR).

40 ypersensitive to ocular damage, and XP-F and XP-G patients appear to be much less susceptible to skin

41 toproducts and the repair capacity in MC and XP cells for ODD and UV-induced photoproducts.

42 thus also contribute to melanomagenesis, and XP gene products may participate in the repair of ODD.

43 persensitive to killing by UV radiation, and XP cancers have characteristic "UV signature" mutations.

44 n the phenotypic differences between TTD and XP.

45 nt form of xeroderma pigmentosum (XP-V), and XP-V individuals suffer from a high incidence of sunligh

46 utation frequency in MCs than in NHSFs; and, XP complementation group A (XPA), XP complementation gro

47 N-aryl-2,3,4,5,6-pentaphenylpyridiniums (Ar-XP), and N-aryl-3,5-dimethyl-2,4,6-triphenylpyridinium (

48 most, if not all DDB(+) cells classified as XP-E were misclassified, suggests a direct correlation b

49 y, have defects in some of the same genes as XP, but they have primary developmental abnormalities wi

50 ice, and to analyze the correlations between XP genotype and ophthalmic phenotype.

51 nged J(H)4 gene segments was similar between XP-V and control clones; however, there were fewer mutat

52 The newer BIS XP software package may be a useful adjunctive tool in o

53 In 15 patients monitored with the newer BIS XP version, the BIS values correlated significantly with

54 , we examined UV-induced mutagenesis in both XP-C and CS cells, using duplex sequencing for high-sens

55 ere detected by consensus of results of both XP-EHH and XP-CLR methods.

56 t of the transcriptional arrest displayed by XP-D/CS cells arises as a result of an active repression

57 or mutated in xeroderma pigmentosum group C (XP-C), a rare inherited disease characterized by high in

58 Skin cancer is most common in XP-C, XP-E, and XP-V patients, previously considered to be the

59 en ICLs [xeroderma pigmentosum (XP)-A, XP-C, XP-F, Cockayne's syndrome-B, Fanconi anemia] but did req

60 n this study, we propose an approach, called XP-BLUP, which ameliorates this ethnic disparity by comb

61 kin cancer predisposition, or in rare cases, XP combined with Cockayne syndrome.

62 nalysis of ELF tests using the ADVIA Centaur XP system and its commercially available reagents.

63 AAA+ protease casein lytic proteinase (Clp) XP.

64 ients seen by the UK Nationally Commissioned XP Service, from April 2010 to December 2014, with a gen

65 ed for this defect by c-DNA complementation (XP-G(+)).

66 Although complemented XP cell lines have been studied for years, data on cyclo

67 In six of eight PTC-containing XP-C cells, treatment with Geneticin and gentamicin resu

68 By contrast, XP-C cells with selective defect in GG-NER but with norm

69 In contrast, XP-V cells deficient in the UV bypass polymerase eta exh

70 [xeroderma pigmentosum group A (XP-A), XP-D, XP-F, XP-G, Cockayne syndrome group A (CS-A), and CS-B]

71 age t((1/2)) of 7.1 h, whereas NER-deficient XP-A, XP-C, and XP-F cells were severely compromised in

72 nly in nucleotide excision repair-deficient (XP-A) cells but were not found in repair-proficient cell

73 Consistent with the human disease (XP-E), the DDB2-/- mice were susceptible to UV-induced s

74 ents that are distinct from the NER disorder XP.

75 the already known spectrum of NER disorders: XP, CS, and trichothiodystrophy.

76 moving UV irradiation-induced damage to DNA, XP patients are hypersensitive to sunlight and are prone

77 The xeroderma pigmentosum group E (XP-E) causing K244E mutant of DDB2 found in patient XP82

78 roderma pigmentosum complementation group E (XP-E) gene product damaged-DNA binding protein 2 (DDB2)

79 Cells from XP group E (XP-E) patients have a defect in the UV-damaged DNA-bindi

80 one syndrome, xeroderma pigmentosum group E (XP-E).

81 c information and management advice for each XP patient, as well as providing new insights into the f

82 he commercially available vaccine Vetera EHV(XP) 1/4 (Vetera; Boehringer Ingelheim Vetmedica) resulte

83 tane pyrimidine dimer by DNA polymerase eta (XP-V or Rad30) or bypass of a (6-4) TT photoproduct by D

84 w, nonclassical ITIM motif, (V/I/L)XpY(M/L/F)XP, which corresponds to the class IV peptides selected

85 erma pigmentosum group A (XP-A), XP-D, XP-F, XP-G, Cockayne syndrome group A (CS-A), and CS-B] are hy

86 lecular and biochemical features typical for XP-E.

87 Cells from XP group E (XP-E) patients have a defect in the UV-damag

88 es most of the phenotypes seen in cells from XP-V patients with inactivating mutations in POLH.

89 Extracts from XP-V cells, which are defective in poleta, exhibit sever

90 crodissection samples of skin melanomas from XP patients studied at the National Institutes of Health

91 Patients suffering from XP and 50% of TTD afflicted individuals are photosensiti

92 xes and compared with the Glide SP and Glide XP models; significant improvements are obtained.

93 between E-model scores (obtained from GLIDE XP/QPLD docking calculations) vs log(ED(50)) values via

94 ontains two parallel ligand-binding grooves, XP (formed by residues Y269 and W280) and XP2 (formed by

95 B is defective in one complementation group (XP-E) of the heritable, skin cancer-prone disorder xerod

96 is assigned to eight complementation groups (XP-A to -G and variant).

97 Cockayne syndrome complex, and 1 patient had XP/trichothiodystrophy complex.

98 Eighty-three patients had XP, 3 patients had XP/Cockayne syndrome complex, and 1 p

99 Eighty-three patients had XP, 3 patients had XP/Cockayne syndrome complex, and 1 patient had XP/trich

100 -population extended haplotype homozygosity (XP-EHH) and cross-population composite likelihood ratio

101 In XP-E cell lines with impaired UV-DDB binding, p48 is res

102 tion, but similar levels of Mre11 foci as in XP-V cells.

103 early 10,000-fold increase in skin cancer in XP patients under the age of 20 years, demonstrating the

104 The high incidence of skin cancers in XP-C patients suggests that loss of expression of XPC pr

105 Skin cancer is most common in XP-C, XP-E, and XP-V patients, previously considered to

106 B2 gene account for the underlying defect in XP-E.

107 these domains fail to correct the defects in XP-variant cells.

108 Mutation spectra were determined in XP-G fibroblasts and a repair-proficient line corrected

109 creased with dose and to a greater extent in XP-V cells.

110 ions and in inactivation of the PTEN gene in XP melanomas including in situ, the earliest stage of me

111 of a large portion of the repressed genes in XP-D/CS cells after UV irradiation.

112 two alternative pathways that are greater in XP-V cells.

113 also showed that UV-induced HR was higher in XP-V cells.

114 ontributes to the high melanoma incidence in XP patients.

115 ed significantly following UV irradiation in XP-A cells in which sumoylation of XPC does not occur.

116 hat might contribute to neurodegeneration in XP.

117 The defect is observed in TTD and not in XP and is specific for fibroblasts, which are the main p

118 encodes the XPD subunit of TFIIH, but not in XP cells with ERCC2 mutations.

119 progressive neurodegeneration that occur in XP patients.

120 ull mutation (previously seen in patients in XP complementation group D) and a unique D681N mutation-

121 ences in ocular features between patients in XP subgroups with impaired transcription coupled nucleot

122 lactic therapy for skin cancer prevention in XP-C patients.

123 vide one mechanism for cancer progression in XP/CS.

124 nd that the repression of these promoters in XP-D/CS cells was not a simple consequence of deficient

125 n Francisco reported defective DNA repair in XP cells.

126 iated with decreased global genome repair in XP-E cells, this study suggests that histone modificatio

127 or the progressive neurodegeneration seen in XP-A individuals.

128 ing affinity and the severity of symptoms in XP patients.

129 of telomerase, critically short telomeres in XP mutants seem to aggravate this pathology, associated

130 However, unlike in XP-A cells, the absence of pol eta expression resulted i

131 Here, we show that independent XP-V cell lines are dramatically more sensitive to cispl

132 Instead XP-GWAS (extreme-phenotype GWAS) relies on genotyping po

133 enerates the nominal 30-mer in UV-irradiated XP-C mutant cells.

134 Within 1 h of irradiation, XP-V cells showed more Rad51-positive cells than normal

135 y, we showed that, following UV irradiation, XP-D/CS cells displayed a gross transcriptional dysregul

136 methasone-induced reactivation from latency, XP-specific sncRNA levels were reduced, suggesting that

137 ein identifications when compared with a LCQ XP Max.

138 n trap mass spectrometers (an LTQ and an LCQ XP Max).

139 variants and for the individual full-length XP-MLV ERVs found in the sequenced C57BL mouse genome.

140 e the subspecies origins of laboratory mouse XP-MLV ERVs and their coevolutionary trajectory with the

141 last 5 y, the UK national multidisciplinary XP service has provided follow-up for 89 XP patients, re

142 ly lost in squamous cell carcinomas from non XP-C patients, we examined XPC expression by immunohisto

143 st half of squamous cell carcinomas from non XP-C patients.

144 on and progression of similar cancers in non XP-C patients in the general population.

145 ogression of squamous cell carcinomas in non XP-C patients.

146 ults demonstrate the importance of the novel XP molecular recognition and water scoring in separating

147 Approximately 25% of XP patients have progressive neurological degeneration w

148 To survey the molecular basis of XP-V worldwide, we measured pol eta protein in skin fibr

149 ics can help refine diagnoses in the case of XP complex phenotypes.

150 Our findings on this large cohort of XP patients under long-term follow-up reveal that XP is

151 elated to XP, before any formal diagnosis of XP was made.

152 or genetic counseling and early diagnosis of XP.

153 4, with a genetically confirmed diagnosis of XP.

154 no reports of combined clinical features of XP and TTD.

155 but only in TTD patients with no features of XP.

156 The major form of XP is defective in nucleotide excision repair (NER) and

157 The variant form of XP results from mutations in the hRAD30A gene, which enc

158 The XP-C group of XP patients have mutations in the global genome repair (

159 eport describes the ocular manifestations of XP in patients systematically evaluated in the Clinical

160 Clinical manifestations of XP include mild to extreme sensitivity to ultraviolet ra

161 telomere dysfunction in the pathobiology of XP by comparing Xpc(-/-)-mutant mice and Xpc(-/-)G1-G3Te

162 Ninety-three percent of XP patients in our cohort had ocular involvement, with 6

163 The gene product of XP complementation group G (XPG) is a structure-specific

164 A large proportion of XP patients have ocular involvement.

165 to enable comparisons between the results of XP-GWAS and conventional GWAS.

166 itization observed was comparable to that of XP-A cells deficient in nucleotide excision repair, a re

167 oubiquitination of H2A after UV treatment of XP-E cells, compared with repair-proficient cells.

168 entation changes and skin cancers typical of XP, has a mutation that has been identified previously,

169 tive value, and negative predictive value of XP were 75%, 98%, 95%, and 90%, respectively; and those

170 s were bonded with Clearfil SE Bond (CSE) or XP Bond (XPB).

171 However, other XP-E patients have been reported not to lack UV-damaged

172 h less susceptible to skin cancer than other XP groups.

173 Moreover, unlike other XP-deficient mice, the DDB2-deficient mice developed spo

174 PERSEVERE-XP combines protein and mRNA biomarkers to provide morta

175 PERSEVERE-XP significantly improves on PERSEVERE and suggests a ro

176 In the derivation cohort, PERSEVERE-XP had an area under the receiver operating characterist

177 The AUC of PERSEVERE-XP was superior to that of PERSEVERE.

178 The derived tree, PERSEVERE-XP, was then tested in a separate cohort (n = 77).

179 photoelectron peaks in X-ray photoelectron (XP) spectra.

180 ced the expression of xeroderma pigmentosum (XP) A and other DNA repair genes (quantitative real-time

181 tary diseases such as xeroderma pigmentosum (XP) and Cockayne syndrome (CS).

182 ers, the cancer-prone xeroderma pigmentosum (XP) and the cancer-free, multisystem developmental disor

183 ding the cancer-prone xeroderma pigmentosum (XP) and the multisystem disorder trichothiodystrophy (TT

184 Xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) are rare heritable dis

185 tures associated with xeroderma pigmentosum (XP) and trichothiodystrophy (TTD).

186 yne syndrome (CS) and xeroderma pigmentosum (XP) are human photosensitive diseases with mutations in

187 IIH helicase subunits xeroderma pigmentosum (XP) B or XPD yield overlapping DNA repair and transcript

188 ed proteins cause the xeroderma pigmentosum (XP) cancer predisposition syndrome.

189 The use of xeroderma pigmentosum (XP) cells, which are deficient in DNA repair, rendered t

190 Xeroderma pigmentosum (XP) complementation group A (XPA) is an essential scaffo

191 Xeroderma pigmentosum (XP) complementation group E gene product, damaged DNA-bi

192 ived from a subset of Xeroderma Pigmentosum (XP) complementation group E individuals (Ddb(-)).

193 fects associated with xeroderma pigmentosum (XP) disease, a series of stable bacterially expressed N-

194 yne syndrome (CS) and Xeroderma pigmentosum (XP) group C patients, that are defective in the NER sub-

195 h the genetic disease xeroderma pigmentosum (XP) have impaired nucleotide excision repair (NER).

196 74% of families with xeroderma pigmentosum (XP) in the Maghreb region (Algeria, Morocco, and Tunisia

197 Xeroderma pigmentosum (XP) is a heritable human disorder characterized by defec

198 Xeroderma pigmentosum (XP) is a human disorder which is characterized by hypers

199 Xeroderma pigmentosum (XP) is a human genetic disease which is caused by defect

200 Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by muta

201 Xeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by incre

202 Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repai

203 Xeroderma pigmentosum (XP) is a skin cancer-prone autosomal recessive disease c

204 ancer-prone disorders xeroderma pigmentosum (XP) or the XP-Cockayne syndrome complex.

205 Xeroderma pigmentosum (XP) patients have 1,000-fold higher incidence of melanom

206 induction, we studied xeroderma pigmentosum (XP) patients who have defective DNA repair resulting in

207 skin fibroblasts from xeroderma pigmentosum (XP) patients with different PTCs in the XPC DNA repair g

208 s and is deficient in xeroderma pigmentosum (XP) variants.

209 sts and NER-defective xeroderma pigmentosum (XP) XPA and XPG cells.

210 ssified as group E of xeroderma pigmentosum (XP), a hereditary, photosensitive disease with a high in

211 Xeroderma pigmentosum (XP), a UV-sensitivity syndrome characterized by skin hyp

212 ing UV sensitivity in xeroderma pigmentosum (XP), but this was not explored further.

213 iciency in NER causes xeroderma pigmentosum (XP), characterized by extreme sensitivity to sunlight an

214 progeroid disorders (xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD

215 notypes: cancer-prone xeroderma pigmentosum (XP), or aging disorders Cockayne syndrome (CS), and tric

216 lar manifestations of xeroderma pigmentosum (XP), presenting via the United Kingdom (UK) XP service,

217 sing repair-deficient xeroderma pigmentosum (XP)-A cells that stably express photoproduct-specific ph

218 air of psoralen ICLs [xeroderma pigmentosum (XP)-A, XP-C, XP-F, Cockayne's syndrome-B, Fanconi anemia

219 al recessive disorder xeroderma pigmentosum (XP).

220 ancer-prone disorder, xeroderma pigmentosum (XP).

221 another NER syndrome, xeroderma pigmentosum (XP).

222 s are associated with xeroderma pigmentosum (XP).

223 IH result in combined xeroderma pigmentosum (XP)/Cockayne syndrome (CS), a severe DNA repair disorder

224 ate the E subgroup of xeroderma pigmentosum (XP-E).

225 eta), encoded by the xeroderma pigmentosum (XP-V) gene, plays an essential role in preventing cutane

226 e the variant form of xeroderma pigmentosum (XP-V), and XP-V individuals suffer from a high incidence

227 , and Kenana) breeds using cross-population (XP-EHH and XP-CLR) statistical methods.

228 Primary XP-C cells had increased UV-induced mutation frequencies

229 bp region within the LR gene (the XbaI-PstI [XP] fragment) that inhibited bICP0 protein and RNA expre

230 RSX(pS/pT)XP and RXPhiX(pS/pT)XP are two canonical consensus bindi

231 RSX(pS/pT)XP and RXPhiX(pS/pT)XP are two canonical consensus binding motifs for 14-3-3

232 the majority of genes after UV, whereas pure XP-D cells did not.

233 riptional dysregulation compared with "pure" XP-D cells or WT cells.

234 ta protein in skin fibroblasts from putative XP-V patients (aged 8-66 years) from 10 families in Nort

235 cross-population composite likelihood ratio (XP-CLR), and further analyzed the results to find genomi

236 he performance characteristics of Xpect RSV (XP) and Binax Now RSV (BN) were compared to those of dir

237 adapted a common test for natural selection, XP-EHH (cross-population extended haplotype homozygosity

238 Some XP patients also develop a characteristic neurodegenerat

239 The cells of some XP-E patients are deficient in a protein complex (consis

240 plying between population statistical tests (XP-EHH and XP-CLR).

241 dies and real data analyses demonstrate that XP-BLUP adaptively utilizes trans-ethnic information and

242 eping genes as a model, we demonstrated that XP-D/CS cells were unable to reassemble these gene promo

243 We report here that XP-E strains are defective in UV irradiation-induced apo

244 tients under long-term follow-up reveal that XP is more heterogeneous than has previously been apprec

245 , global RNA-sequencing analysis showed that XP-D/CS cells repressed the majority of genes after UV,

246 carcinogenesis after UV-irradiation, so that XP-E heterozygotes might be at risk for carcinogenesis.

247 segregation within XP patients suggests that XP is a heterogeneous and complex disease.

248 The XP scoring function and docking protocol have been devel

249 The XP-C group of XP patients have mutations in the global g

250 rect correlation between DDB2 levels and the XP-E phenotype.

251 We then apply the XP-PCM method to a selection of other pericyclic reactio

252 through selection of the PPPPP motif by the XP and XP2 grooves.

253 lesions that, if unrepaired, might cause the XP neurodegeneration.

254 A C 1s peak at 284.1 eV was observed in the XP spectra, consistent with the formation of a C-Ge bond

255 ingly more substitutions of C:G bases in the XP-V clones (p < 10(-7)).

256 ions of A compared with T nucleotides in the XP-V clones compared with control clones, whereas the fr

257 were fewer mutations of A and T bases in the XP-V clones, similar to variable gene mutations from the

258 recently developed computational method, the XP-PCM (extreme pressure polarizable continuum model) me

259 One of the XP complementation groups, XPE, involves mutation in ddb

260 for 89 XP patients, representing most of the XP patients in the United Kingdom.

261 iding new insights into the functions of the XP proteins.

262 disorders xeroderma pigmentosum (XP) or the XP-Cockayne syndrome complex.

263 ween nucleotides 20 and 25 hybridized to the XP fragment.

264 rfering RNAs (siRNAs) were compared with the XP-V cellular phenotype that results from naturally occu

265 noncoding RNAs (sncRNAs) encoded within the XP fragment (20 to 90 nucleotides in length) were detect

266 These XP melanomas have the same anatomic distribution as mela

267 ss of damage discrimination observed in this XP-E patient.

268 strains from patients previously assigned to XP-E, allowed us to reclassify all of them into other gr

269 logists with ocular surface signs related to XP, before any formal diagnosis of XP was made.

270 Besides confirming that the true XP-E phenotype is DDB(-), resulting from defects in a si

271 hermore, we have identified mutations in two XP variant patients that leave the polymerase motifs int

272 (XP), presenting via the United Kingdom (UK) XP service, and to analyze the correlations between XP g

273 re we describe several genetically unrelated XP-E patients, not previously analyzed in depth, each ca

274 patients with xeroderma pigmentosum variant (XP-V) disease, who lack polymerase eta.

275 patients with xeroderma pigmentosum variant (XP-V) disease, whose polymerase eta is defective, had th

276 roduct of the xeroderma pigmentosum variant (XP-V) gene, catalyzed the most efficient bypass of the t

277 nce, protects xeroderma pigmentosum variant (XP-V) patient cells from UV-induced cytotoxicity.

278 is mutated in xeroderma pigmentosum variant (XP-V) patients who exhibit an increased skin cancer inci

279 mans with the Xeroderma pigmentosum variant (XP-V) phenotype, little is known about the cellular func

280 Xeroderma pigmentosum-variant (XP-V) patients have sun sensitivity and increased skin c

281 vity syndrome xeroderma pigmentosum-variant (XP-V) which is linked to the ability of pol eta to accur

282 XP variant (XP-V) cells lack the damage-specific polymerase eta and

283 ProMAT requires either Windows XP or Mac OS 10.4 or newer versions.

284 anguage for the .NET2 environment in WINDOWS XP.

285 0.1 and were tested on Ubuntu Linux, Windows XP and 7, and MacOSX.

286 uded with the installer and works on Windows XP SP2 or better.

287 domain software, has been tested on WIndows XP, Linux and Mac OS, and is freely available from http:

288 has been developed and tested under Windows XP, and is capable of running on any PC or MAC platform

289 It runs in a standard MS Windows (XP or Vista) environment, and can be downloaded http://t

290 DNA-binding domain (DBD) are associated with XP disease.

291 n (Trp690Ser) found in certain patients with XP disease revealed that this mutation is associated wit

292 Burning and nonburning patients with XP exhibit different rates of important ophthalmologic f

293 status of the largest group of patients with XP systematically examined at 1 facility over an extende

294 us severe clinical features in patients with XP-D/CS that cannot be explained by a DNA repair defect.

295 arameters were normal in three patients with XP.

296 D)), which are inexplicably associated with (XP) or without (CS/TTD) cancer.

297 Within XP groups, different mutations confer susceptibility or

298 ocular phenotype-genotype segregation within XP patients suggests that XP is a heterogeneous and comp

299 , an RNA-dependent RNA polymerase, and an XH/XP domain-containing protein, which is part of the RNA-d

300 HSFs; and, XP complementation group A (XPA), XP complementation group C, and XP complementation group