Bradford PT, Goldstein AM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Pike KM, Raziuddin A, Plona TM, DiGiovanna JJ, Tucker MA, Kraemer KH: Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. J Med Genet 2011, 48: 168–176. 10.1136/jmg.2010.083022
Article
PubMed Central
PubMed
Google Scholar
Kraemer KH, Lee MM, Andrews AD, Lambert WC: The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm. Arch Dermatol 1994, 130: 1018–1021. 10.1001/archderm.1994.01690080084012
Article
CAS
PubMed
Google Scholar
Kraemer KH, Lee MM, Scotto J: Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 1987, 123: 241–250. 10.1001/archderm.1987.01660260111026
Article
CAS
PubMed
Google Scholar
Robbins JH, Kraemer KH, Lutzner MA, Festoff BW, Coon HG: Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann Intern Med 1974, 80: 221–248. 10.7326/0003-4819-80-2-221
Article
CAS
PubMed
Google Scholar
Anttinen A, Koulu L, Nikoskelainen E, Portin R, Kurki T, Erkinjuntti M, Jaspers NG, Raams A, Green MH, Lehmann AR, Wing JF, Arlett CF, Marttila RJ: Neurological symptoms and natural course of xeroderma pigmentosum. Brain 2008, 131: 1979–1989. 10.1093/brain/awn126
Article
PubMed
Google Scholar
Itoh M, Hayashi M, Shioda K, Minagawa M, Isa F, Tamagawa K, Morimatsu Y, Oda M: Neurodegeneration in hereditary nucleotide repair disorders. Brain Dev 1999, 21: 326–333. 10.1016/S0387-7604(99)00033-9
Article
CAS
PubMed
Google Scholar
Kanda T, Oda M, Yonezawa M, Tamagawa K, Isa F, Hanakago R, Tsukagoshi H: Peripheral neuropathy in xeroderma pigmentosum. Brain 1990, 113: 1025–1044. 10.1093/brain/113.4.1025
Article
PubMed
Google Scholar
Robbins JH: Xeroderma pigmentosum. Defective DNA repair causes skin cancer and neurodegeneration. JAMA 1988, 260: 384–388. 10.1001/jama.1988.03410030100038
Article
CAS
PubMed
Google Scholar
Robbins JH, Brumback RA, Mendiones M, Barrett SF, Carl JR, Cho S, Denckla MB, Ganges MB, Gerber LH, Guthrie RA: Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form. Brain 1991, 114: 1335–1361.
PubMed
Google Scholar
Robbins JH, Kraemer KH, Merchant SN, Brumback RA: Adult-onset xeroderma pigmentosum neurological disease–observations in an autopsy case. Clin Neuropathol 2002, 21: 18–23.
CAS
PubMed
Google Scholar
Ueda T, Kanda F, Aoyama N, Fujii M, Nishigori C, Toda T: Neuroimaging features of xeroderma pigmentosum group A. Brain Behav 2012, 2: 1–5.
Article
PubMed Central
PubMed
Google Scholar
DiGiovanna JJ, Kraemer KH: Shining a light on xeroderma pigmentosum. J Invest Dermatol 2012, 132: 785–796. 10.1038/jid.2011.426
Article
PubMed Central
CAS
PubMed
Google Scholar
Hoeijmakers JH: DNA damage, aging, and cancer. N Engl J Med 2009, 361: 1475–1485. 10.1056/NEJMra0804615
Article
CAS
PubMed
Google Scholar
Totonchy MB, Tamura D, Pantell MS, Zalewski C, Bradford PT, Merchant SN, Nadol J, Khan SG, Schiffmann R, Pierson TM, Wiggs E, Griffith AJ, DiGiovanna JJ, Kraemer KH, Brewer CC: Auditory analysis of xeroderma pigmentosum 1971–2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration. Brain 2013, 136: 194–208.
Article
PubMed Central
PubMed
Google Scholar
de Sanctis C, Cacchione A: L'idiozia xerodermica. Rivista Sperimentale di Freniatria e Medicina Legale delle Alienazioni Mentali 1932, 56: 269–292.
Google Scholar
Hayashi M: Roles of oxidative stress in xeroderma pigmentosum. Adv Exp Med Biol 2008, 637: 120–127.
Article
CAS
PubMed
Google Scholar
Hayashi M: Oxidative stress in developmental brain disorders. Neuropathology 2009, 29: 1–8. 10.1111/j.1440-1789.2008.00888.x
Article
PubMed
Google Scholar
Hayashi M, Araki S, Kohyama J, Shioda K, Fukatsu R: Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome. Brain Dev 2005, 27: 34–38. 10.1016/j.braindev.2004.04.001
Article
PubMed
Google Scholar
Hayashi M, Araki S, Kohyama J, Shioda K, Fukatsu R, Tamagawa K: Brainstem and basal ganglia lesions in xeroderma pigmentosum group A. J Neuropathol Exp Neurol 2004, 63: 1048–1057.
PubMed
Google Scholar
Hayashi M, Itoh M, Araki S, Kumada S, Shioda K, Tamagawa K, Mizutani T, Morimatsu Y, Minagawa M, Oda M: Oxidative stress and disturbed glutamate transport in hereditary nucleotide repair disorders. J Neuropathol Exp Neurol 2001, 60: 350–356.
CAS
PubMed
Google Scholar
Hayashi M, Miwa-Saito N: Tanuma N. Neuropathology: Kubota M Brain vascular changes in Cockayne syndrome; 2011.
Google Scholar
Hayashi M, Ohto T: Shioda K. Brain Dev: Fukatsu R Lesions of cortical GABAergic interneurons and acetylcholine neurons in xeroderma pigmentosum group A; 2011.
Google Scholar
Kenyon GS, Booth JB, Prasher DK: Rudge P Neuro-otological abnormalities in xeroderma pigmentosum with particular reference to deafness. Brain 1985,108(Pt 3):771–784.
Article
PubMed
Google Scholar
Kohji T, Hayashi M, Shioda K, Minagawa M, Morimatsu Y, Tamagawa K, Oda M: Cerebellar neurodegeneration in human hereditary DNA repair disorders. Neurosci Lett 1998, 243: 133–136. 10.1016/S0304-3940(98)00109-8
Article
CAS
PubMed
Google Scholar
Okayasu I, Satoh Y, Irimajiri T, Mitoh Y: Fetal case of xeroderma pigmentosum–first report of an autopsy case. Acta Pathol Jpn 1978, 28: 459–464.
CAS
PubMed
Google Scholar
Ramkumar HL, Brooks BP, Cao X, Tamura D, DiGiovanna JJ, Kraemer KH, Chan CC: Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature. Surv Ophthalmol 2011, 56: 348–361. 10.1016/j.survophthal.2011.03.001
Article
PubMed Central
PubMed
Google Scholar
Rapin I, Lindenbaum Y, Dickson DW, Kraemer KH, Robbins JH: Cockayne syndrome and xeroderma pigmentosum. Neurology 2000, 55: 1442–1449. 10.1212/WNL.55.10.1442
Article
PubMed Central
CAS
PubMed
Google Scholar
Reed WB, Landing B, Sugarman G, Cleaver JE, Melnyk J: Xeroderma pigmentosum. Clinical and laboratory investigation of its basic defect. JAMA 1969, 207: 2073–2079.
CAS
PubMed
Google Scholar
Reed WB, MARY SB, NICKEL WR: Xeroderma pigmentosum with neurological complications: The deSanctis-Cacchione syndrome. Arch Dermatol 1965, 91: 224–226. 10.1001/archderm.1965.01600090032005
Article
CAS
PubMed
Google Scholar
Reed WB, Sugarman GI, Mathis RA: DeSanctis-Cacchione syndrome. A case report with autopsy findings. Arch Dermatol 1977, 113: 1561–1563. 10.1001/archderm.1977.01640110081013
Article
CAS
PubMed
Google Scholar
Roytta M, Anttinen A: Xeroderma pigmentosum with neurological abnormalities. A clinical and neuropathological study. Acta Neurol Scand 1986, 73: 191–199. 10.1111/j.1600-0447.1986.tb10586.x
Article
CAS
PubMed
Google Scholar
Takagi M: Xeroderma pigmentosum–report of two autopsy cases (author's transl). Kokubyo Gakkai Zasshi 1979, 46: 389–396.
Article
CAS
PubMed
Google Scholar
Wang Y, Tan XH, DiGiovanna JJ, Lee CC, Stern JB, Raffeld M, Jaffe ES, Kraemer KH: Genetic diversity in melanoma metastases from a patient with xeroderma pigmentosum. J Invest Dermatol 2010, 130: 1188–1191. 10.1038/jid.2009.377
Article
PubMed Central
CAS
PubMed
Google Scholar
Yano K: Xeroderma pigmentosum with disorders of the central nervous system; a histopathological study. Folia Psychiatr Neurol Jpn 1950, 4: 143–175.
CAS
PubMed
Google Scholar
Kraemer KH, Coon HG, Petinga RA, Barrett SF, Rahe AE, Robbins JH: Genetic heterogeneity in xeroderma pigmentosum: complementation groups and their relationship to DNA repair rates. Proc Natl Acad Sci U S A 1975, 72: 59–63. 10.1073/pnas.72.1.59
Article
PubMed Central
CAS
PubMed
Google Scholar
Kraemer KH, DiGiovanna JJ, Moshell AN, Tarone RE, Peck GL: Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin. N Engl J Med 1988, 318: 1633–1637. 10.1056/NEJM198806233182501
Article
CAS
PubMed
Google Scholar
States JC, Myrand SP: Splice site mutations in a xeroderma pigmentosum group A patient with delayed onset of neurological disease. Mutat Res 1996, 363: 171–177. 10.1016/0921-8777(96)00004-3
Article
PubMed
Google Scholar
Terunuma A, Ye J, Emmert S, Khan SG, Kraemer KH, Vogel JC: Ultraviolet light selection assay to optimize oligonucleotide correction of mutations in endogenous xeroderma pigmentosum genes. Gene Ther 2004, 11: 1729–1734. 10.1038/sj.gt.3302344
Article
CAS
PubMed
Google Scholar
Kraemer KH, De Weerd-Kastelein EA, Robbins JH, Keijzer W, Barrett SF, Petinga RA, Bootsma D: Five complementation groups in xeroderma pigmentosum. Mutat Res 1975, 33: 327–340. 10.1016/0027-5107(75)90208-0
Article
CAS
PubMed
Google Scholar
Petinga RA, Andrews AD, Tarone RE, Robbins JH: Typical xeroderma pigmentosum complementation group A fibroblasts have detectable ultraviolet light-induced unscheduled DNA synthesis. Biochim Biophys Acta 1977, 479: 400–410. 10.1016/0005-2787(77)90033-8
Article
CAS
PubMed
Google Scholar
Andrews AD, Barrett SF, Robbins JH: Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation. Proc Natl Acad Sci U S A 1978, 75: 1984–1988. 10.1073/pnas.75.4.1984
Article
PubMed Central
CAS
PubMed
Google Scholar
DiGiovanna JJ, Patronas N, Katz D, Abangan D, Kraemer KH: Xeroderma pigmentosum: spinal cord astrocytoma with 9-year survival after radiation and isotretinoin therapy. J Cutan Med Surg 1998, 2: 153–158.
CAS
PubMed
Google Scholar
Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB, Inui H, Emmert S, Imoto K, Muniz-Medina V, Baker CC, DiGiovanna JJ, Schmidt D, Khadavi A, Metin A, Gozukara E, Slor H, Sarasin A, Kraemer KH: Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. Carcinogenesis 2006, 27: 84–94.
Article
CAS
PubMed
Google Scholar
Robbins JH, Brumback RA, Moshell AN: Clinically asymptomatic xeroderma pigmentosum neurological disease in an adult: evidence for a neurodegeneration in later life caused by defective DNA repair. Eur Neurol 1993, 33: 188–190. 10.1159/000116932
Article
CAS
PubMed
Google Scholar
Robbins JH, Polinsky RJ, Moshell AN: Evidence that lack of deoxyribonucleic acid repair causes death of neurons in xeroderma pigmentosum. Ann Neurol 1983, 13: 682–684. 10.1002/ana.410130621
Article
CAS
PubMed
Google Scholar
Stern JB, Peck GL, Haupt HM, Hollingsworth HC, Beckerman T: Malignant melanoma in xeroderma pigmentosum: search for a precursor lesion. J Am Acad Dermatol 1993, 28: 591–594. 10.1016/0190-9622(93)70079-9
Article
CAS
PubMed
Google Scholar
Turner ML, Moshell AN, Corbett DW, Stern JB, Roth MJ, DiGiovanna J, Horn TD, Kraemer KH: Clearing of melanoma in situ with intralesional interferon alfa in a patient with xeroderma pigmentosum. Arch Dermatol 1994, 130: 1491–1494. 10.1001/archderm.1994.01690120027003
Article
CAS
PubMed
Google Scholar
Gaasterland DE, Rodrigues MM, Moshell AN: Ocular involvement in xeroderma pigmentosum. Ophthalmology 1982, 89: 980–986.
Article
CAS
PubMed
Google Scholar
Li L, Bales ES, Peterson CA, Legerski RJ: Characterization of molecular defects in xeroderma pigmentosum group C. Nat Genet 1993, 5: 413–417. 10.1038/ng1293-413
Article
CAS
PubMed
Google Scholar
Dobbing J, Sands J: Quantitative growth and development of human brain. Arch Dis Child 1973, 48: 757–767. 10.1136/adc.48.10.757
Article
PubMed Central
CAS
PubMed
Google Scholar
Fukuhara N, Kumamoto T, Takasawa H, Tsubaki T, Origuchi Y: The peripheral neuropathy in De Sanctis-Cacchione syndrome. Histological, ultrastructural, and morphometric studies. Acta Neuropathol (Berl) 1982, 56: 194–200. 10.1007/BF00690635
Article
CAS
Google Scholar
Yan H, Parsons DW, Jin G, McLendon R, Rasheed BA, Yuan W, Kos I, Batinic-Haberle I, Jones S, Riggins GJ, Friedman H, Friedman A, Reardon D, Herndon J, Kinzler KW, Velculescu VE, Vogelstein B, Bigner DD: IDH1 and IDH2 mutations in gliomas. N Engl J Med 2009, 360: 765–773. 10.1056/NEJMoa0808710
Article
PubMed Central
CAS
PubMed
Google Scholar
Robbins JH, Moshell AN: DNA repair processes protect human beings from premature solar skin damage: evidence from studies on xeroderma pigmentosum. J Invest Dermatol 1979, 73: 102–107. 10.1111/1523-1747.ep12532789
Article
CAS
PubMed
Google Scholar
Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ: Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype-phenotype relationship. Neuroscience 2007, 145: 1388–1396. 10.1016/j.neuroscience.2006.12.020
Article
PubMed Central
CAS
PubMed
Google Scholar
Jaarsma D, Van DP I, De Waard MC, Haasdijk ED, Brandt R, Vermeij M, Rijksen Y, Maas A, Van SH, Hoeijmakers JH: Van der Horst GT Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology. PLoS Genet 2011, 7: 1002405. 10.1371/journal.pgen.1002405
Article
Google Scholar
Faghri S, Tamura D, Kraemer KH, DiGiovanna JJ: Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. J Med Genet 2008, 45: 609–621. 10.1136/jmg.2008.058743
Article
PubMed Central
CAS
PubMed
Google Scholar
Daya-Grosjean L, Sarasin A: 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: 43–56. 10.1016/j.mrfmmm.2004.11.013
Article
CAS
PubMed
Google Scholar
Wang Y, DiGiovanna JJ, Stern JB, Hornyak TJ, Raffeld M, Khan SG, Oh KS, Hollander MC, Dennis PA, Kraemer KH: Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas. Proc Natl Acad Sci U S A 2009, 106: 6279–6284. 10.1073/pnas.0812401106
Article
PubMed Central
CAS
PubMed
Google Scholar
Brooks PJ: The case for 8,5'-cyclopurine-2'-deoxynucleosides as endogenous DNA lesions that cause neurodegeneration in xeroderma pigmentosum. Neuroscience 2007, 145: 1407–1417. 10.1016/j.neuroscience.2006.10.025
Article
PubMed Central
CAS
PubMed
Google Scholar
de Waard MC, van dP I, Zuiderveen BN, Comley LH, Haasdijk ED, Rijksen Y, Ridwan Y, Zondag G, Hoeijmakers JH, Elgersma Y, Gillingwater TH, Jaarsma D: Age-related motor neuron degeneration in DNA repair-deficient Ercc1 mice. Acta Neuropathol 2010, 120: 461–475. 10.1007/s00401-010-0715-9
Article
PubMed Central
PubMed
Google Scholar