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 is frequently associated with ocular surface, eyelid,

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

6 XP patients have a nucleotide excision repair defect and

7 XP shares phenotypical characteristics with telomere-ass

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

9 XP-C patients are specifically hypersensitive to ocular

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

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

12 XP-knockout astroviruses are attenuated and pseudo-rever

13 XP-knockout replicons have only a minor replication defe

14 XP-V cell extracts did not add dNTPs to DNA primers hybr

15 XP/CS mutations both impair helicase activity and likely

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

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

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

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

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

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

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

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

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

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

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

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

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

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

30 (1/2)) of 7.1 h, whereas NER-deficient XP-A, XP-C, and XP-F cells were severely compromised in their

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

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

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

34 PCR Purification, and Beckman Coulter AMPure XP.

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

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

37 7.1 h, whereas NER-deficient XP-A, XP-C, and XP-F cells were severely compromised in their ability to

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

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

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

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

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

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

44 t mutations map to XPGcat, and both XP-G and XP-G/CS mutations destabilize XPG and reduce its cellula

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

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

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

48 n the phenotypic differences between TTD and XP.

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

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

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

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

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

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

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

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

57 enic point mutations map to XPGcat, and both XP-G and XP-G/CS mutations destabilize XPG and reduce it

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

74 Here, we show that DNGR-1 is a dedicated XP receptor that signals upon ligand engagement to promo

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

76 was investigated in human pol eta-deficient (XP-V) cells through whole-exome sequencing.

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

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

79 ents that are distinct from the NER disorder XP.

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

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

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

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

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

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

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

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

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

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

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

91 that binds dead-cell debris and facilitates XP of corpse-associated antigens.

92 lecular and biochemical features typical for XP-E.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

107 Human XP-V fibroblast extracts, devoid of hpol eta, could not

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

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

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

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

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

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

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

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

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

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

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

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

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

121 ontributes to the high melanoma incidence in XP patients.

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

123 for disease phenotypes: Residues mutated in XP-G are positioned to reduce local stability and NER ac

124 nd NER activity, whereas residues mutated in XP-G/CS have implied long-range structural defects that

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

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

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

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

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

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

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

132 n Francisco reported defective DNA repair in XP cells.

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

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

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

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

137 stress may be related to internal tumours in XP-V patients.

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

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

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

141 d bases, was also observed in non-irradiated XP-V cells, indicating that basal mutagenesis caused by

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

143 mutation signature profile of UVA-irradiated XP-V cells is highly similar to the human skin cancer pr

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

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

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

147 ein identifications when compared with a LCQ XP Max.

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

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

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

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

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

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

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

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

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

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

158 uccess of this first reported application of XP-GWAS for an obligate outcrossing and highly heterozyg

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

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

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

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

163 or genetic counseling and early diagnosis of XP.

164 4, with a genetically confirmed diagnosis of XP.

165 The discovery of XP advances our knowledge of these important human virus

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

167 Further investigation into the function of XP revealed plasma and trans Golgi network membrane-asso

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

169 A family history of XP was present in 32 (27%) patients.

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

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

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

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

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

175 A large proportion of XP patients have ocular involvement.

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

177 eplication defect, demonstrating the role of XP at late stages of infection.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

204 74% of families with xeroderma pigmentosum (XP) in the Maghreb region (Algeria, Morocco, and Tunisia

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

223 s are associated with xeroderma pigmentosum (XP).

224 mors in patients with xeroderma pigmentosum (XP).

225 al recessive disorder xeroderma pigmentosum (XP).

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

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

228 iseases: Cancer-prone xeroderma pigmentosum (XP-G) or the fatal neurodevelopmental disorder Cockayne

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

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

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

232 alternative-frame ORF, encoding the protein XP.

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

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

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

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

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

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

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

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

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

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

243 eme-phenotype genome-wide association study (XP-GWAS) was used to enrich for alkyl cannabinoid polymo

244 urodevelopmental disorder Cockayne syndrome (XP-G/CS).

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

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

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

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

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

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

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

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

253 The XP scoring function and docking protocol have been devel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

269 These XP melanomas have the same anatomic distribution as mela

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

286 anguage for the .NET2 environment in WINDOWS XP.

287 0.1 and were tested on Ubuntu Linux, Windows XP and 7, and MacOSX.

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

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

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 institution study included 120 patients with XP who underwent intervention with excisional biopsy, en

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

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