{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T21:58:47Z","timestamp":1787003927831,"version":"build-2736575974"},"reference-count":43,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Photochem Photobiol Sci"],"published-print":{"date-parts":[[2012,1]]},"DOI":"10.1039\/c2pp25267h","type":"journal-article","created":{"date-parts":[[2012,10,4]],"date-time":"2012-10-04T07:07:27Z","timestamp":1349334447000},"page":"78-84","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Spotlight on \u2018xeroderma pigmentosum\u2019"],"prefix":"10.1007","volume":"12","author":[{"given":"Hiva","family":"Fassihi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,12,1]]},"reference":[{"key":"120109_CR1","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1001\/archderm.1987.01660260111026","volume":"123","author":"K H Kraemer","year":"1987","unstructured":"K. H. Kraemer, M. M. Lee, and J. Scotto, Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases, Arch. Dermatol., 1987, 123, 241\u2013250.","journal-title":"Arch. Dermatol."},{"key":"120109_CR2","first-page":"252","volume":"61","author":"F Hebra","year":"1874","unstructured":"F. Hebra, and M. Kaposi, On diseases of the skin including exanthemata, volume III, New Sydenham Soc., 1874, 61, 252\u2013258.","journal-title":"New Sydenham Soc."},{"key":"120109_CR3","first-page":"47","volume-title":"Vierteljahrschr. Dermatol. Syphil.","author":"A Neisser","year":"1883","unstructured":"A. Neisser, Ueber das \u2018Xeroderma pigmentosum\u2019 (Kaposi): Lioderma essentialis cum melanosi et telangiectasia, Vierteljahrschr. Dermatol. Syphil., 1883, 47\u201362."},{"key":"120109_CR4","first-page":"269","volume":"56","author":"C de Sanctis","year":"1932","unstructured":"C. de Sanctis, and A. Cacchione, L\u2018idiozia xerodermica, Riv. Sper. Freniatr., 1932, 56, 269\u2013292.","journal-title":"Riv. Sper. Freniatr."},{"key":"120109_CR5","doi-asserted-by":"publisher","first-page":"652","DOI":"10.1038\/218652a0","volume":"218","author":"J E Cleaver","year":"1968","unstructured":"J. E. Cleaver, Defective repair replication of DNA in xeroderma pigmentosum, Nature, 1968, 218, 652\u2013656.","journal-title":"Nature"},{"key":"120109_CR6","doi-asserted-by":"publisher","first-page":"1250","DOI":"10.1073\/pnas.48.7.1250","volume":"48","author":"R B Setlow","year":"1962","unstructured":"R. B. Setlow, and J. K. Setlow, Evidence that ultraviolet-induced thymine dimers in DNA cause biological damage, Proc. Natl. Acad. Sci. U. S. A., 1962, 48, 1250\u20131257.","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"120109_CR7","doi-asserted-by":"publisher","first-page":"1477","DOI":"10.1126\/science.168.3938.1477","volume":"168","author":"J H Epstein","year":"1970","unstructured":"J. H. Epstein, K. Fukuyama, W. B. Reed, and W. L. Epstein, Defect in DNA synthesis in skin of patients with xeroderma pigmentosum demonstrated in vivo, Science, 1970, 168, 1477\u20131478.","journal-title":"Science"},{"key":"120109_CR8","first-page":"759","volume":"77","author":"P G Burk","year":"1971","unstructured":"P. G. Burk, M. A. Lutzner, D. D. Clarke, and J. H. Robbins, Ultraviolet-stimulated thymidine incorporation in xeroderma pigmentosum lymphocytes, J. Lab Clin. Med., 1971, 77, 759\u2013767.","journal-title":"J. Lab Clin. Med."},{"key":"120109_CR9","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1111\/1523-1747.ep12538913","volume":"58","author":"J E Cleaver","year":"1972","unstructured":"J. E. Cleaver, Xeroderma pigmentosum: variants with normal DNA repair and normal sensitivity to ultraviolet light, J. Invest. Dermatol., 1972, 58, 124\u2013128.","journal-title":"J. Invest. Dermatol."},{"key":"120109_CR10","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1073\/pnas.72.1.219","volume":"72","author":"A R Lehmann","year":"1975","unstructured":"A. R. Lehmann, S. Kirk-Bell, C. F. Arlett, M. C. Paterson, P. H. Lohman, E. A. de Weerd-Kastelein, and D. Bootsma, Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation, Proc. Natl. Acad. Sci. U. S. A., 1975, 72, 219\u2013223.","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"120109_CR11","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1038\/newbio238080a0","volume":"238","author":"E A de Weerd-Kastelein","year":"1972","unstructured":"E. A. de Weerd-Kastelein, W. Keijzer, and D. Bootsma, Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridization, Nat. New Biol., 1972, 238, 80\u201383.","journal-title":"Nat. New Biol."},{"key":"120109_CR12","first-page":"771","volume-title":"Neurocutaneous Diseases","author":"M Stefanini","year":"2008","unstructured":"M. Stefanini, and K. H. Kraemer, Xeroderma pigmentosum, in Neurocutaneous Diseases, ed. M. Ruggieri, I. Pascual-Castroviejo and C. Di Rocco, 2008, ch. 51, 771\u2013792."},{"key":"120109_CR13","doi-asserted-by":"publisher","first-page":"756","DOI":"10.1038\/nrg2663","volume":"10","author":"J E Cleaver","year":"2009","unstructured":"J. E. Cleaver, E. T. Lam, and I. Revet, Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity, Nat. Rev. Genet., 2009, 10, 756\u2013768.","journal-title":"Nat. Rev. Genet."},{"key":"120109_CR14","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1038\/nature01408","volume":"421","author":"E C Friedberg","year":"2003","unstructured":"E. C. Friedberg, DNA damage and repair, Nature, 2003, 421, 436\u2013440.","journal-title":"Nature"},{"key":"120109_CR15","doi-asserted-by":"publisher","first-page":"700","DOI":"10.1038\/21447","volume":"399","author":"C Masutani","year":"1999","unstructured":"C. Masutani, R. Kusumoto, A. Yamada, N. Dohmae, M. Yokoi, M. Yuasa, M. Araki, S. Iwai, K. Takio, and F. Hanaoka, The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta, Nature, 1999, 399, 700\u2013704.","journal-title":"Nature"},{"key":"120109_CR16","doi-asserted-by":"publisher","first-page":"221","DOI":"10.7326\/0003-4819-80-2-221","volume":"80","author":"J H Robbins","year":"1974","unstructured":"J. H. Robbins, K. H. Kraemer, M. A. Lutzner, B. W. Festoff, and H. G. Coon, Xeroderma pigmentosum: an inherited disease with sun-sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair, Ann. Intern. Med, 1974, 80, 221\u2013248.","journal-title":"Ann. Intern. Med"},{"key":"120109_CR17","first-page":"490","volume":"37","author":"H Takebe","year":"1977","unstructured":"H. Takebe, Y. Miki, T. Kozuka, J. I. Furuyama, K. Tanaka, M. S. Sasaki, Y. Fujiwara, and H. Akiba, DNA repair characteristics and skin cancers of xeroderma pigmentosum patients in Japan, Cancer Res., 1977, 37, 490\u2013495.","journal-title":"Cancer Res."},{"key":"120109_CR18","doi-asserted-by":"publisher","first-page":"744","DOI":"10.1016\/j.dnarep.2008.01.014","volume":"7","author":"W J Kleijer","year":"2008","unstructured":"W. J. Kleijer, V. Laugel, M. Berneburg, T. Nardo, H. Fawcett, A. Gratchev, N. G. Jaspers, A. Sarasin, M. Stefanini, and A. R. Lehmann, Incidence of DNA repair deficiency disorders in western Europe: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy, DNA Repair (Amst), 2008, 7, 744\u2013750.","journal-title":"DNA Repair (Amst)"},{"key":"120109_CR19","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1136\/jmg.2010.083022","volume":"48","author":"P T Bradford","year":"2010","unstructured":"P. T. Bradford, A. M. Goldstein, D. Tamura, S. G. Khan, T. Ueda, J. Boyle, K. S. Oh, K. Imoto, H. Inui, S. I. Moriwaki, S. Emmert, K. M. Pike, A. Raziuddin, T. M. Plona, J. J. Digiovanna, M. A. Tucker, and K. H. Kraemer, Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair, J. Med. Genet., 2010, 48, 168\u2013176.","journal-title":"J. Med. Genet."},{"key":"120109_CR20","doi-asserted-by":"publisher","first-page":"432","DOI":"10.1111\/j.1751-1097.1996.tb03064.x","volume":"63","author":"A Ziegler","year":"1996","unstructured":"A. Ziegler, A. Jonason, J. Simon, D. Leffell, and D. E. Brash, Tumor suppressor gene mutations and photocarcinogenesis, Photochem. Photobiol., 1996, 63, 432\u2013435.","journal-title":"Photochem. Photobiol."},{"key":"120109_CR21","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1038\/nature08658","volume":"463","author":"E D Pleasance","year":"2010","unstructured":"E. D. Pleasance, and R. K. Cheetham, et al., A comprehensive catalogue of somatic mutations from a human cancer genome, Nature, 2010, 463, 191\u2013197.","journal-title":"Nature"},{"key":"120109_CR22","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1016\/j.mrfmmm.2004.11.013","volume":"571","author":"L Daya-Grosjean","year":"2005","unstructured":"L. Daya-Grosjean, and A. Sarasin, The role of UV induced lesions in skin carcinogenesis: an overview of oncogene and tumor suppressor gene modifications in xeroderma pigmentosum skin tumors, Mutat. Res., 2005, 571, 43\u201356.","journal-title":"Mutat. Res."},{"key":"120109_CR23","doi-asserted-by":"publisher","first-page":"1018","DOI":"10.1001\/archderm.1994.01690080084012","volume":"130","author":"K H Kraemer","year":"1994","unstructured":"K. H. Kraemer, M. M. Lee, A. D. Andrews, and W. C. Lambert, The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm, Arch. Dermatol., 1994, 130, 1018\u20131021.","journal-title":"Arch. Dermatol."},{"key":"120109_CR24","first-page":"4128","volume":"11","author":"J Venema","year":"1991","unstructured":"J. Venema, A. van Hoffen, V. Karcagi, A. T. Natarajan, A. A. van Zeeland, and L. H. Mullenders, Xeroderma pigmentosum complementation group C cells remove pyrimidine dimers selectively from the transcribed strand of active genes, Mol. Cell Biol., 1991, 11, 4128\u20134134.","journal-title":"Mol. Cell Biol."},{"key":"120109_CR25","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1111\/j.1523-1747.1998.00173.x","volume":"110","author":"R J Berg","year":"1998","unstructured":"R. J. Berg, H. J. Ruven, A. T. Sands, F. R. de Gruijl, and L. H. Mullenders, Defective global genome repair in XPC mice is associated with skin cancer susceptibility but not with sensitivity to UVB induced erythema and edema, J. Invest. Dermatol., 1998, 110, 405\u2013409.","journal-title":"J. Invest. Dermatol."},{"key":"120109_CR26","doi-asserted-by":"publisher","first-page":"6199","DOI":"10.4049\/jimmunol.164.12.6199","volume":"164","author":"J Garssen","year":"2000","unstructured":"J. Garssen, H. van Steeg, F. de Gruijl, J. de Boer, G. T. van der Horst, H. van Kranen, H. van Loveren, M. van Dijk, A. Fluitman, G. Weeda, and J. H. Hoeijmakers, Transcription-coupled and global genome repair differentially influence UV-B-induced acute skin effects and systemic immunosuppression, J. Immunol., 2000, 164, 6199\u20136205.","journal-title":"J. Immunol."},{"key":"120109_CR27","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1289\/ehp.877633","volume":"76","author":"V M Maher","year":"1987","unstructured":"V. M. Maher, J. D. Patton, J. L. Yang, Y. Y. Wang, L. L. Yang, A. E. Aust, N. Bhattacharyya, and J. J. McCormick, Mutations and homologous recombination induced in mammalian cells by metabolites of benzo[a]-pyrene and 1-nitropyrene, Environ. Health Perspect., 1987, 76, 33\u201339.","journal-title":"Environ. Health Perspect."},{"key":"120109_CR28","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1177\/120347549800200308","volume":"2","author":"J J DiGiovanna","year":"1998","unstructured":"J. J. DiGiovanna, N. Patronas, D. Katz, D. Abangan, and K. H. Kraemer, Xeroderma pigmentosum: spinal cord astrocytoma with 9-year survival after radiation and isotretinoin therapy, J. Cutan. Med. Surg., 1998, 2, 153\u2013158.","journal-title":"J. Cutan. Med. Surg."},{"key":"120109_CR29","doi-asserted-by":"publisher","first-page":"194","DOI":"10.2307\/3575764","volume":"88","author":"F Giannelli","year":"1981","unstructured":"F. Giannelli, J. Avery, P. E. Polani, C. Terrell, and V. Giammusso, Xeroderma pigmentosum and medulloblastoma: chromosomal damage to lymphocytes during radiotherapy, Radiat. Res., 1981, 88, 194\u2013208.","journal-title":"Radiat. Res."},{"key":"120109_CR30","first-page":"1580","volume":"60","author":"D L Cheo","year":"2000","unstructured":"D. L. Cheo, L. B. Meira, D. K. Burns, A. M. Reis, T. Issac, and E. C. Friedberg, Ultraviolet B radiation-induced skin cancer in mice defective in the Xpc, Trp53, and Apex (HAP1) genes: genotype-specific effects on cancer predisposition and pathology of tumors, Cancer Res., 2000, 60, 1580\u20131584.","journal-title":"Cancer Res."},{"key":"120109_CR31","doi-asserted-by":"publisher","first-page":"1984","DOI":"10.1073\/pnas.75.4.1984","volume":"75","author":"A D Andrews","year":"1978","unstructured":"A. D. Andrews, S. F. Barrett, and J. H. Robbins, Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation, Proc. Natl. Acad. Sci. U. S. A., 1978, 75, 1984\u20131988.","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"120109_CR32","doi-asserted-by":"publisher","first-page":"1168","DOI":"10.1016\/j.dnarep.2008.03.016","volume":"7","author":"P J Brooks","year":"2008","unstructured":"P. J. Brooks, The 8,5\u2032-cyclopurine-2\u2032-deoxynucleosides: candidate neurodegenerative DNA lesions in xeroderma pigmentosum, and unique probes of transcription and nucleotide excision repair, DNA Repair (Amst), 2008, 7, 1168\u20131179.","journal-title":"DNA Repair (Amst)"},{"key":"120109_CR33","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1007\/BF00278968","volume":"54","author":"M Stefanini","year":"1980","unstructured":"M. Stefanini, W. Keijzer, L. Dalpra, R. Elli, M. N. Porro, B. Nicoletti, and F. Nuzzo, Differences in the levels of UV repair and in clinical symptoms in two sibs affected by xeroderma pigmentosum, Hum. Genet., 1980, 54, 177\u2013182.","journal-title":"Hum. Genet."},{"key":"120109_CR34","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1016\/0027-5107(80)90187-6","volume":"69","author":"A R Lehmann","year":"1980","unstructured":"A. R. Lehmann, and S. Stevens, A rapid procedure for measurement of DNA repair in human fibroblasts and for complementation analysis of xeroderma pigmentosum cells, Mutat. Res., 1980, 69, 177\u2013190.","journal-title":"Mutat. Res."},{"key":"120109_CR35","doi-asserted-by":"publisher","first-page":"e31","DOI":"10.1093\/nar\/gkp023","volume":"37","author":"S Limsirichaikul","year":"2009","unstructured":"S. Limsirichaikul, A. Niimi, H. Fawcett, A. Lehmann, S. Yamashita, and T. Ogi, A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU), Nucl. Acids Res., 2009, 37, e31.","journal-title":"Nucl. Acids Res."},{"key":"120109_CR36","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1016\/0027-5107(75)90209-2","volume":"33","author":"C F Arlett","year":"1975","unstructured":"C. F. Arlett, S. A. Harcourt, and B. C. Broughton, The influence of caffeine on cell survival in excision-proficient and excision-deficient xeroderma pigmentosum and normal human cell strains following ultraviolet light irradiation, Mutat. Res., 1975, 33, 341\u2013346.","journal-title":"Mutat. Res."},{"key":"120109_CR37","doi-asserted-by":"publisher","first-page":"815","DOI":"10.1073\/pnas.022473899","volume":"99","author":"B C Broughton","year":"2002","unstructured":"B. C. Broughton, A. Cordonnier, W. J. Kleijer, N. G. Jaspers, H. Fawcett, A. Raams, V. H. Garritsen, A. Stary, M. F. Avril, F. Boudsocq, C. Masutani, F. Hanaoka, R. P. Fuchs, A. Sarasin, and A. R. Lehmann, Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients, Proc. Natl. Acad. Sci. U. S. A., 2002, 99, 815\u2013820.","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"120109_CR38","first-page":"1974","volume":"60","author":"F Chavanne","year":"2000","unstructured":"F. Chavanne, B. C. Broughton, D. Pietra, T. Nardo, A. Browitt, A. R. Lehmann, and M. Stefanini, Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein and transcript levels, Cancer Res., 2000, 60, 1974\u20131982.","journal-title":"Cancer Res."},{"key":"120109_CR39","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1097\/DAD.0b013e3181af0a5e","volume":"32","author":"S de Feraudy","year":"2010","unstructured":"S. de Feraudy, I. Boubakour-Azzouz, S. Fraitag, M. Berneburg, L. Chan, K. Chew, C. L. Clericuzio, B. Cunningham, W. D. Tope, and J. E. Cleaver, Diagnosing xeroderma pigmentosum group C by immunohistochemistry, Am. J. Dermatopathol., 2010, 32, 109\u2013117.","journal-title":"Am. J. Dermatopathol."},{"key":"120109_CR40","unstructured":"Xeroderma pigmentosum support group [http:\/\/joomla.xpsupportgroup.org.uk]."},{"key":"120109_CR41","unstructured":"XP family support group [http:\/\/www.xpfamilysupport.org] and xeroderma pigmentosum society [http:\/\/www.xps.org\/]."},{"key":"120109_CR42","unstructured":"Enfants de la lune [http:\/\/asso.orpha.net\/AXP]."},{"key":"120109_CR43","unstructured":"XP Freu(n)de [http:\/\/www.xerodermapigmentosum.de]."}],"updated-by":[{"DOI":"10.1039\/c4pp90022g","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2014,9,1]],"date-time":"2014-09-01T00:00:00Z","timestamp":1409529600000}}],"container-title":["Photochemical &amp; Photobiological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1039\/c2pp25267h.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1039\/c2pp25267h\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/pubs.rsc.org\/en\/content\/articlepdf\/2013\/PP\/C2PP25267H","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1039\/c2pp25267h.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,2]],"date-time":"2022-11-02T09:56:25Z","timestamp":1667382985000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1039\/c2pp25267h"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1]]},"references-count":43,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,1]]}},"alternative-id":["120109"],"URL":"https:\/\/doi.org\/10.1039\/c2pp25267h","relation":{},"ISSN":["1474-905X","1474-9092"],"issn-type":[{"value":"1474-905X","type":"print"},{"value":"1474-9092","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,1]]},"assertion":[{"value":"25 July 2012","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 October 2012","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 December 2012","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 September 2014","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"A Correction to this paper has been published:","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"https:\/\/doi.org\/10.1039\/C4PP90022G","URL":"https:\/\/doi.org\/10.1039\/C4PP90022G","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}}]}}