xeroderma pigmentosum - Medical Dictionary

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xeroderma pigmentosum		A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ultraviolet rays as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA. [ Articles \| Books \| Images \| Discussion groups ]

Additional comments : (Kaposi's Disease) See also: Ultraviolet Rays, References [Epidermal stem cells and ex vivo cutaneous gene therapy: application to xeroderma pigmentosum.] Authors: Warrick E, Bergoglio V, Bernerd F, Magnaldo T Journal: J Soc Biol Repairing DNA damage in xeroderma pigmentosum: T4N5 lotion and gene therapy. Authors: Zahid S, Brownell I Journal: J Drugs Dermatol Nucleotide excision repair and neurological diseases. Authors: Nouspikel T Journal: DNA Repair (Amst) A rare presentation of squamous cell carcinoma in a patient with PIBIDS-type trichothiodystrophy. Authors: Charles CA, Connelly EA, Aber CG, Herman AR, Schachner LA Journal: Pediatr Dermatol Polymorphisms of the XRCC1 and XPD Genes and Breast Cancer Risk: A Case-Control Study. Authors: Kipika?ová L, Wolaschka T, Bohu? P, Baumohlová H, Bober J, Bla?ejová J, Mirossay L, Sari?ský M, Miro??ay A, Ci?máriková M, Poto?eková D, Moj?i? J Journal: Pathol Oncol Res Mutation frequencies and spectra in DNA polymerase eta-deficient mice. Authors: Busuttil RA, Lin Q, Stambrook PJ, Kucherlapati R, Vijg J Journal: Cancer Res Use of RNAi in C. elegans. Authors: Ohkumo T, Masutani C, Eki T, Hanaoka F Journal: Methods Mol Biol Xeroderma Pigmentosum-Variant Patients from America, Europe, and Asia. Authors: Inui H, Oh KS, Nadem C, Ueda T, Khan SG, Metin A, Gozukara E, Emmert S, Slor H, Busch DB, Baker CC, Digiovanna JJ, Tamura D, Seitz CS, Gratchev A, Wu WH, Chung KY, Chung HJ, Azizi E, Woodgate R, Schneider TD, Kraemer KH Journal: J Invest Dermatol BOOK REVIEW: Joel L. Spitz, editor. Genodermatoses. Authors: Pasi? A Journal: Acta Dermatovenerol Croat Photosensitivity skin disorders in childhood. Authors: Horkay I, Emri G, Varga V, Simics E, Remenyik E Journal: Photodermatol Photoimmunol Photomed No association between hOGG1, XRCC1, and XPD polymorphisms and risk of reflux esophagitis, Barrett's esophagus, or esophageal adenocarcinoma: results from the factors influencing the Barrett's adenocarcinoma relationship case-control study. Authors: Ferguson HR, Wild CP, Anderson LA, Murphy SJ, Johnston BT, Murray LJ, Watson RG, McGuigan J, Reynolds JV, Hardie LJ Journal: Cancer Epidemiol Biomarkers Prev UV damage and DNA repair in malignant melanoma and nonmelanoma skin cancer. Authors: Rass K, Reichrath J Journal: Adv Exp Med Biol Correlation of CDA, ERCC1, and XPD polymorphisms with response and survival in gemcitabine/cisplatin-treated advanced non-small cell lung cancer patients. Authors: Tibaldi C, Giovannetti E, Vasile E, Mey V, Laan AC, Nannizzi S, Di Marsico R, Antonuzzo A, Orlandini C, Ricciardi S, Del Tacca M, Peters GJ, Falcone A, Danesi R Journal: Clin Cancer Res [Ocular malignancies of xeroderma pigmentosum: clinical and therapeutic features] Authors: Touzri RA, Mohamed Z, Khalil E, Ilhem MB, Insaf M, Bassima F, Amel MO Journal: Ann Dermatol Venereol Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage? Authors: Brooks PJ, Cheng TF, Cooper L Journal: DNA Repair (Amst) Clinical implications of the basic defects in Cockayne syndrome and xeroderma pigmentosum and the DNA lesions responsible for cancer, neurodegeneration and aging. Authors: Cleaver JE, Revet I Journal: Mech Ageing Dev Cisplatin induces cytoplasmic to nuclear translocation of nucleotide excision repair factors among spiral ganglion neurons. Authors: Guthrie OW, Li-Korotky HS, Durrant JD, Balaban C Journal: Hear Res Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Authors: Kleijer WJ, Laugel V, Berneburg M, Nardo T, Fawcett H, Gratchev A, Jaspers NG, Sarasin A, Stefanini M, Lehmann AR Journal: DNA Repair (Amst) A review of DNA repair and possible DNA-repair adjuvants and selected natural anti-oxidants. Authors: Emanuel P, Scheinfeld N Journal: Dermatol Online J DNA repair gene polymorphisms may be associated with prognosis of upper urinary tract transitional cell carcinoma. Authors: Sasaki M, Sakano S, Okayama N, Akao J, Hara T, Kawai Y, Ohmi C, Hinoda Y, Naito K Journal: Neoplasia The involvement of DNA-damage and -repair defects in neurological dysfunction. Authors: Kulkarni A, Wilson DM Journal: Am J Hum Genet Mouse models for xeroderma pigmentosum group A and group C show divergent cancer phenotypes. Authors: Melis JP, Wijnhoven SW, Beems RB, Roodbergen M, van den Berg J, Moon H, Friedberg E, van der Horst GT, Hoeijmakers JH, Vijg J, van Steeg H Journal: Cancer Res Photoprotection of bacterial-derived melanin against ultraviolet A-induced cell death and its potential application as an active sunscreen. Authors: Geng J, Tang W, Wan X, Zhou Q, Wang XJ, Shen P, Lei TC, Chen XD Journal: J Eur Acad Dermatol Venereol Xeroderma pigmentosum. Authors: Webb S Journal: BMJ Nucleotide excision repair deficient mouse models and neurological disease. Authors: Niedernhofer LJ Journal: DNA Repair (Amst) ERCC2 2251A>C genetic polymorphism was highly correlated with early relapse in high-risk stage II and stage III colorectal cancer patients: a preliminary study. Authors: Huang MY, Fang WY, Lee SC, Cheng TL, Wang JY, Lin SR Journal: BMC Cancer [Skin cancer in Tunisia: a retrospective study: 1379 cases and risk factors] Authors: Maalej M, Hentati D, Slimène M, Kanoun S, Héchiche M, Ben Romdhane K, Ben Abdallah M Journal: Tunis Med [Hint and luck for identification of a gene for Fukuyama muscular dystrophy, fukutin] Authors: Toda T Journal: Rinsho Shinkeigaku Single nucleotide polymorphisms in nucleotide excision repair genes XPA, XPD, XPG and ERCC1 in advanced colorectal cancer patients treated with first-line oxaliplatin/fluoropyrimidine. Authors: Monzo M, Moreno I, Navarro A, Ibeas R, Artells R, Gel B, Martinez F, Moreno J, Hernandez R, Navarro-Vigo M Journal: Oncology Catalase overexpression reduces UVB-induced apoptosis in a human xeroderma pigmentosum reconstructed epidermis. Authors: Rezvani HR, Ged C, Bouadjar B, de Verneuil H, Taïeb A Journal: Cancer Gene Ther Xeroderma pigmentosum: a glimpse into nucleotide excision repair, genetic instability, and cancer. Authors: Dworaczek H, Xiao W Journal: Crit Rev Oncog Polymorphisms in XPC and ERCC2 genes, smoking and breast cancer risk. Authors: Shore RE, Zeleniuch-Jacquotte A, Currie D, Mohrenweiser H, Afanasyeva Y, Koenig KL, Arslan AA, Toniolo P, Wirgin I Journal: Int J Cancer Interstrand crosslink repair: can XPF-ERCC1 be let off the hook? Authors: Bergstralh DT, Sekelsky J Journal: Trends Genet Predicting cisplatin and trabectedin drug sensitivity in ovarian and colon cancers. Authors: Stevens EV, Nishizuka S, Antony S, Reimers M, Varma S, Young L, Munson PJ, Weinstein JN, Kohn EC, Pommier Y Journal: Mol Cancer Ther Inhibition of DNA replication fork progression and mutagenic potential of 1, N6-ethenoadenine and 8-oxoguanine in human cell extracts. Authors: Tolentino JH, Burke TJ, Mukhopadhyay S, McGregor WG, Basu AK Journal: Nucleic Acids Res Ocular manifestations of xeroderma pigmentosum. Authors: Zafar SN, Khan A, Rubab S, Zafar N Journal: J Coll Physicians Surg Pak X-ray repair cross-complementing group 4 (XRCC4) promoter -1394( )T-related genotype, but not XRCC4 codon 247/intron 3 or xeroderma pigmentosum group D codon 312, 751/promoter -114, polymorphisms are correlated with higher susceptibility to myoma. Authors: Hsieh YY, Chang CC, Bau DT, Yeh LS, Tsai FJ, Tsai CH Journal: Fertil Steril The carboxy-terminal domain of xeroderma pigmentosum complementation group C protein, involved in TFIIH and centrin binding, is highly disordered. Authors: Miron S, Duchambon P, Blouquit Y, Durand D, Craescu CT Journal: Biochemistry Xeroderma pigmentosum genes: functions inside and outside DNA repair. Authors: Sugasawa K Journal: Carcinogenesis UV protective effects of DNA repair enzymes and RNA lotion. Authors: Ke MS, Camouse MM, Swain FR, Oshtory S, Matsui M, Mammone T, Maes D, Cooper KD, Stevens SR, Baron ED Journal: Photochem Photobiol Reaction of the XPA zinc finger with S-nitrosoglutathione. Authors: Smirnova J, Zhukova L, Witkiewicz-Kucharczyk A, Kopera E, Oledzki J, Wys?ouch-Cieszy?ska A, Palumaa P, Hartwig A, Bal W Journal: Chem Res Toxicol Eukaryotic nucleotide excision repair: from understanding mechanisms to influencing biology. Authors: Shuck SC, Short EA, Turchi JJ Journal: Cell Res The role of protein binding of trivalent arsenicals in arsenic carcinogenesis and toxicity. Authors: Kitchin KT, Wallace K Journal: J Inorg Biochem Centrin/Cdc31 is a novel regulator of protein degradation. Authors: Chen L, Madura K Journal: Mol Cell Biol Elevated levels of somatic mutation in a manifesting BRCA1 mutation carrier. Authors: Grant SG, Das R, Cerceo CM, Rubinstein WS, Latimer JJ Journal: Pathol Oncol Res A meta-analysis of DNA repair gene XPC polymorphisms and cancer risk. Authors: Zhang D, Chen C, Fu X, Gu S, Mao Y, Xie Y, Huang Y, Li Y Journal: J Hum Genet CPDs and 6-4PPs play different roles in UV-induced cell death in normal and NER-deficient human cells. Authors: de Lima-Bessa KM, Armelini MG, Chiganças V, Jacysyn JF, Amarante-Mendes GP, Sarasin A, Menck CF Journal: DNA Repair (Amst) Determination of ERCC2 Lys751Gln and GSTP1 Ile105Val gene polymorphisms in colorectal cancer patients: relationships with treatment outcome. Authors: Le Morvan V, Smith D, Laurand A, Brouste V, Bellott R, Soubeyran I, Mathoulin-Pelissier S, Robert J Journal: Pharmacogenomics Attenuation of DNA damage-induced p53 expression by arsenic: A possible mechanism for arsenic co-carcinogenesis. Authors: Shen S, Lee J, Weinfeld M, Le XC Journal: Mol Carcinog Protein expression levels of excision repair cross-complementation group 1 and xeroderma pigmentosum D correlate with response to platinum-based chemotherapy in the patients with advanced epithelial ovarian cancer. Authors: Lin K, Ye D, Xie X Journal: Int J Gynecol Cancer Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts. Authors: Arlett CF, Green MH, Rogers PB, Lehmann AR, Plowman PN Journal: Br J Radiol Hot topics in DNA repair: the molecular basis for different disease states caused by mutations in TFIIH and XPG. Authors: Schärer OD Journal: DNA Repair (Amst) Single nucleotide polymorphisms of the DNA repair gene XPD/ERCC2 alter mRNA expression. Authors: Wolfe KJ, Wickliffe JK, Hill CE, Paolini M, Ammenheuser MM, Abdel-Rahman SZ Journal: Pharmacogenet Genomics Polymorphisms in excision repair cross-complementing group 4 (ERCC4) and susceptibility to primary lung cancer in a Chinese Han population. Authors: Shao M, Ma H, Wang Y, Xu L, Yuan J, Wang Y, Hu Z, Yang L, Wang F, Liu H, Qian J, Xun P, Chen W, Yuan W, Jing G, Chen F, Jin L, Wei Q, Wu T, Shen H, Huang W, Lu D Journal: Lung Cancer DNA polymerase eta reduces the gamma-H2AX response to psoralen interstrand crosslinks in human cells. Authors: Mogi S, Butcher CE, Oh DH Journal: Exp Cell Res XPC gene polymorphisms and risk of idiopathic azoospermia or oligozoospermia in a Chinese population. Authors: Liang J, Gu A, Xia Y, Wu B, Lu N, Wang W, Lu C, Zheng Q, Wang S, Wang X Journal: Int J Androl Functional characterization of the putative Aspergillus nidulans DNA damage binding protein homologue DdbA. Authors: Lima JF, Malavazi I, da Silva Ferreira ME, Savoldi M, Mota AO, Capellaro JL, de Souza Goldman MH, Goldman GH Journal: Mol Genet Genomics Different patterns of in vivo pro-oxidant states in a set of cancer- or aging-related genetic diseases. Authors: Lloret A, Calzone R, Dunster C, Manini P, d'Ischia M, Degan P, Kelly FJ, Pallardó FV, Zatterale A, Pagano G Journal: Free Radic Biol Med Xeroderma pigmentosum complementation group C genotypes/diplotypes play no independent or interaction role with polycyclic aromatic hydrocarbons-DNA adducts for breast cancer risk. Authors: Shen J, Gammon MD, Terry MB, Teitelbaum SL, Eng SM, Neugut AI, Santella RM Journal: Eur J Cancer [Polymorphism Lys751Gln of XPD gene and breast cancer risk in women] Authors: Romanowicz-Makowska H, Smolarz B Journal: Pol Merkur Lekarski Exploring DNA damage responses in human cells with recombinant adenoviral vectors. Authors: Armelini MG, Lima-Bessa KM, Marchetto MC, Muotri AR, Chiganças V, Leite RA, Carvalho H, Menck CF Journal: Hum Exp Toxicol Repair of 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone-induced DNA pyridyloxobutylation by nucleotide excision repair. Authors: Brown PJ, Bedard LL, Massey TE Journal: Cancer Lett The iron-containing domain is essential in Rad3 helicases for coupling of ATP hydrolysis to DNA translocation and for targeting the helicase to the single-stranded DNA-double-stranded DNA junction. Authors: Pugh RA, Honda M, Leesley H, Thomas A, Lin Y, Nilges MJ, Cann IK, Spies M Journal: J Biol Chem Xeroderma pigmentosum C is involved in Epstein Barr virus DNA replication. Authors: Lu CC, Chen YC, Wang JT, Yang PW, Chen MR Journal: J Gen Virol [Xeroderma pigmentosum] Authors: Lafourcade P, Pommier S Journal: Rev Prat Processing of a psoralen DNA interstrand cross-link by XPF-ERCC1 complex in vitro. Authors: Fisher LA, Bessho M, Bessho T Journal: J Biol Chem Discovery of protein interaction networks shared by diseases. Authors: Sam L, Liu Y, Li J, Friedman C, Lussier YA Journal: Pac Symp Biocomput Quantitative analysis of the binding affinity of poly(ADP-ribose) to specific binding proteins as a function of chain length. Authors: Fahrer J, Kranaster R, Altmeyer M, Marx A, Bürkle A Journal: Nucleic Acids Res Xeroderma pigmentosum: a Turkish case series. Authors: Gül U, Kiliç A, Gönül M, Cakmak SK, Soylu S Journal: Int J Dermatol Isolation of XAB2 complex involved in pre-mRNA splicing, transcription, and transcription-coupled repair. Authors: Kuraoka I, Ito S, Wada T, Hayashida M, Lee L, Saijo M, Nakatsu Y, Matsumoto M, Matsunaga T, Handa H, Qin J, Nakatani Y, Tanaka K Journal: J Biol Chem Breast cancer susceptibility genes. Authors: Lubinski J, Korzen M, Gorski B, Cybulski C, Debniak T, Jakubowska A, Medrek K, Matyjasik J, Huzarski T, Byrski T, Gronwald J, Masojc B, Lener M, Szymanska A, Szymanska-Pasternak J, Fernandez PS, Wokolorczyk D, Piegat A, Ucinski M, Domagala P, Kladny J, Gorecka B, Scott R, Narod S Journal: J BUON Basal cell carcinoma in childhood: case report and literature review. Authors: Griffin JR, Cohen PR, Tschen JA, Mullans EA, Schulze KE, Martinelli PT, Nelson BR Journal: J Am Acad Dermatol The xeroderma pigmentosum group E gene product DDB2 activates nucleotide excision repair by regulating the level of p21Waf1/Cip1. Authors: Stoyanova T, Yoon T, Kopanja D, Mokyr MB, Raychaudhuri P Journal: Mol Cell Biol The ERCC1/XPF endonuclease is required for efficient single-strand annealing and gene conversion in mammalian cells. Authors: Al-Minawi AZ, Saleh-Gohari N, Helleday T Journal: Nucleic Acids Res Inherited susceptibility to bleomycin-induced micronuclei: correlating polymorphisms in GSTT1, GSTM1 and DNA repair genes with mutagen sensitivity. Authors: Angelini S, Kumar R, Carbone F, Bermejo JL, Maffei F, Cantelli-Forti G, Hemminki K, Hrelia P Journal: Mutat Res Xeroderma pigmentosum complementation group G in association with malignant melanoma. Authors: Yoneda K, Moriue J, Matsuoka Y, Moriwaki S, Moriue T, Nakai K, Yokoi I, Nibu N, Demitsu T, Kubota Y Journal: Eur J Dermatol Structural basis for the recruitment of ERCC1-XPF to nucleotide excision repair complexes by XPA. Authors: Tsodikov OV, Ivanov D, Orelli B, Staresincic L, Shoshani I, Oberman R, Schärer OD, Wagner G, Ellenberger T Journal: EMBO J Interventions for preventing non-melanoma skin cancers in high-risk groups. Authors: Bath-Hextall F, Leonardi-Bee J, Somchand N, Webster A, Delitt J, Perkins W Journal: Cochrane Database Syst Rev Polymorphisms in nucleotide excision repair genes, polycyclic aromatic hydrocarbon-DNA adducts, and breast cancer risk. Authors: Crew KD, Gammon MD, Terry MB, Zhang FF, Zablotska LB, Agrawal M, Shen J, Long CM, Eng SM, Sagiv SK, Teitelbaum SL, Neugut AI, Santella RM Journal: Cancer Epidemiol Biomarkers Prev A new disorder in UV-induced skin cancer with defective DNA repair distinct from xeroderma pigmentosum or Cockayne syndrome. Authors: Hashimoto S, Egawa K, Ihn H, Igarashi A, Matsunaga T, Tateishi S, Yamaizumi M Journal: J Invest Dermatol Polymorphisms in nucleotide excision repair genes, smoking and intake of fruit and vegetables in relation to lung cancer. Authors: Raaschou-Nielsen O, Sørensen M, Overvad K, Tjønneland A, Vogel U Journal: Lung Cancer The HhH domain of the human DNA repair protein XPF forms stable homodimers. Authors: Das D, Tripsianes K, Jaspers NG, Hoeijmakers JH, Kaptein R, Boelens R, Folkers GE Journal: Proteins DNA repair gene XRCC1 and XPD polymorphisms and the risk of idiopathic azoospermia in a Chinese population. Authors: Gu A, Ji G, Liang J, Xia Y, Lu N, Wu B, Wang W, Song L, Wang S, Wang X Journal: Int J Mol Med Sensing of DNA damage by XPC/Rad4: one protein for many lesions. Authors: Sugasawa K, Hanaoka F Journal: Nat Struct Mol Biol Dynamic changes of XPA, XPC, XPF, XPG and ERCC1 protein expression and their correlations with levels of DNA damage in human bronchial epithelia cells exposed to benzo[a]pyrene. Authors: Yang J, Liu X, Niu P, Zou Y, Gong Z, Yuan J, Wu T Journal: Toxicol Lett Structural, thermodynamic, and cellular characterization of human centrin 2 interaction with xeroderma pigmentosum group C protein. Authors: Charbonnier JB, Renaud E, Miron S, Le Du MH, Blouquit Y, Duchambon P, Christova P, Shosheva A, Rose T, Angulo JF, Craescu CT Journal: J Mol Biol Ultraviolet light exposure triggers nuclear accumulation of p21(WAF1) and accelerated senescence in human normal and nucleotide excision repair-deficient fibroblast strains. Authors: Mirzayans R, Scott A, Andrais B, Pollock S, Murray D Journal: J Cell Physiol Bacterial DNA repair genes and their eukaryotic homologues: 4. The role of nucleotide excision DNA repair (NER) system in mammalian cells. Authors: Maddukuri L, Dudzi?ska D, Tudek B Journal: Acta Biochim Pol The xeroderma pigmentosum group C gene polymorphisms and genetic susceptibility of nasopharyngeal carcinoma. Authors: Yang ZH, Liang WB, Jia J, Wei YS, Zhou B, Zhang L Journal: Acta Oncol Recognition of DNA damage by the Rad4 nucleotide excision repair protein. Authors: Min JH, Pavletich NP Journal: Nature Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk. Authors: Kleijer WJ, van der Sterre ML, Garritsen VH, Raams A, Jaspers NG Journal: Prenat Diagn Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A. Authors: Liu Y, Wang Y, Rusinol AE, Sinensky MS, Liu J, Shell SM, Zou Y Journal: FASEB J Atypical fibroxanthoma in a child without xeroderma pigmentosum. Authors: Berk DR, Lind AC, Tapia B, Kane AA, Bayliss SJ Journal: Pediatr Dermatol Moving toward individualized therapy based on NER polymorphisms that predict platinum sensitivity in ovarian cancer patients. Authors: Saldivar JS, Lu KH, Liang D, Gu J, Huang M, Vlastos AT, Follen M, Wu X Journal: Gynecol Oncol p53 suppression overwhelms DNA polymerase eta deficiency in determining the cellular UV DNA damage response. Authors: Laposa RR, Feeney L, Crowley E, de Feraudy S, Cleaver JE Journal: DNA Repair (Amst) Xeroderma pigmentosum complementation group A protein is driven to nucleotide excision repair sites by the electrostatic potential of distorted DNA. Authors: Camenisch U, Dip R, Vitanescu M, Naegeli H Journal: DNA Repair (Amst) Repair capacity for platinum-DNA adducts determines the severity of cisplatin-induced peripheral neuropathy. Authors: Dzagnidze A, Katsarava Z, Makhalova J, Liedert B, Yoon MS, Kaube H, Limmroth V, Thomale J Journal: J Neurosci Analysis of the XPA and ssDNA-binding surfaces on the central domain of human ERCC1 reveals evidence for subfunctionalization. Authors: Tripsianes K, Folkers GE, Zheng C, Das D, Grinstead JS, Kaptein R, Boelens R Journal: Nucleic Acids Res The association of DNA repair gene polymorphisms with the development and progression of renal cell carcinoma. Authors: Sakano S, Hinoda Y, Okayama N, Kawai Y, Korenaga Y, Eguchi S, Nagao K, Ohmi C, Naito K Journal: Ann Oncol Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of northern Spain. Authors: López-Cima MF, González-Arriaga P, García-Castro L, Pascual T, Marrón MG, Puente XS, Tardón A Journal*: BMC Cancer

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