xeroderma pigmentosum

Summary

Summary: 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.

Top Publications

  1. Adair J, Maloney S, Dement G, Wertzler K, Smerdon M, Reeves R. High-mobility group A1 proteins inhibit expression of nucleotide excision repair factor xeroderma pigmentosum group A. Cancer Res. 2007;67:6044-52 pubmed
    ..One possible mechanism for this NER inhibition is down-regulation of proteins involved in NER, such as xeroderma pigmentosum complimentation group A (XPA). Microarray and reverse transcription-PCR data indicate a 2...
  2. Brooks P. The case for 8,5'-cyclopurine-2'-deoxynucleosides as endogenous DNA lesions that cause neurodegeneration in xeroderma pigmentosum. Neuroscience. 2007;145:1407-17 pubmed
    Patients with the genetic disease xeroderma pigmentosum (XP) lack the capacity to carry out a specific type of DNA repair process called nucleotide excision repair (NER)...
  3. Warrick E, Garcia M, Chagnoleau C, Chevallier O, Bergoglio V, Sartori D, et al. Preclinical corrective gene transfer in xeroderma pigmentosum human skin stem cells. Mol Ther. 2012;20:798-807 pubmed publisher
    b>Xeroderma pigmentosum (XP) is a devastating disease associated with dramatic skin cancer proneness. XP cells are deficient in nucleotide excision repair (NER) of bulky DNA adducts including ultraviolet (UV)-induced mutagenic lesions...
  4. Limsirichaikul S, Niimi A, Fawcett H, Lehmann A, Yamashita S, Ogi T. A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU). Nucleic Acids Res. 2009;37:e31 pubmed publisher
    b>Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder. Afflicted patients show extreme sun-sensitivity and skin cancer predisposition...
  5. Chen Z, Xu X, Harrison J, Wang G. Defining the function of xeroderma pigmentosum group F protein in psoralen interstrand cross-link-mediated DNA repair and mutagenesis. Biochem J. 2004;379:71-8 pubmed
    ..We have studied the role of XPF (xeroderma pigmentosum group F) protein in psoralen-induced ICL-mediated DNA repair and mutagenesis...
  6. Biertümpfel C, Zhao Y, Kondo Y, Ramón Maiques S, GREGORY M, Lee J, et al. Structure and mechanism of human DNA polymerase eta. Nature. 2010;465:1044-8 pubmed publisher
    The variant form of the human syndrome xeroderma pigmentosum (XPV) is caused by a deficiency in DNA polymerase eta (Poleta), a DNA polymerase that enables replication through ultraviolet-induced pyrimidine dimers...
  7. Arora R, Sharma A, Gupta R, Vijayaraghavan M. Cutaneous angiosarcoma in a patient with xeroderma pigmentosum. Indian J Pathol Microbiol. 2008;51:504-6 pubmed
    b>Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder characterized by photosensitivity, cutaneous pigmentary changes, premature skin ageing and development of various cutaneous and internal malignancies at an early age as a ..
  8. Niedernhofer L. Nucleotide excision repair deficient mouse models and neurological disease. DNA Repair (Amst). 2008;7:1180-9 pubmed publisher
    ..b>Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy are three human diseases caused by inherited defects in NER...
  9. Sugasawa K. XPC: its product and biological roles. Adv Exp Med Biol. 2008;637:47-56 pubmed
    ..Furthermore, recent studies have suggested that XPC may also be involved in base excision repair and possibly in other cellular functions that may be mediated by posttranslational modifications. ..

More Information

Publications96

  1. Fan L, FUSS J, Cheng Q, Arvai A, Hammel M, Roberts V, et al. XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations. Cell. 2008;133:789-800 pubmed publisher
    ..NER) as part of the transcription/repair complex TFIIH, cause three distinct phenotypes: cancer-prone xeroderma pigmentosum (XP), or aging disorders Cockayne syndrome (CS), and trichothiodystrophy (TTD)...
  2. Cleaver J. Cancer in xeroderma pigmentosum and related disorders of DNA repair. Nat Rev Cancer. 2005;5:564-73 pubmed
    ..Cancer is the hallmark of xeroderma pigmentosum (XP), and neurodegeneration and developmental disorders are the hallmarks of Cockayne syndrome and ..
  3. Kapetanaki M, Guerrero Santoro J, Bisi D, Hsieh C, Rapic Otrin V, Levine A. The DDB1-CUL4ADDB2 ubiquitin ligase is deficient in xeroderma pigmentosum group E and targets histone H2A at UV-damaged DNA sites. Proc Natl Acad Sci U S A. 2006;103:2588-93 pubmed
    b>Xeroderma pigmentosum (XP) is a heritable human disorder characterized by defects in nucleotide excision repair (NER) and the development of skin cancer...
  4. Yasuda G, Nishi R, Watanabe E, Mori T, Iwai S, Orioli D, et al. In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutation. Mol Cell Biol. 2007;27:6606-14 pubmed
    b>Xeroderma pigmentosum group C (XPC) protein plays an essential role in DNA damage recognition in mammalian global genome nucleotide excision repair (NER)...
  5. Kawamoto T, Araki K, Sonoda E, Yamashita Y, Harada K, Kikuchi K, et al. Dual roles for DNA polymerase eta in homologous DNA recombination and translesion DNA synthesis. Mol Cell. 2005;20:793-9 pubmed
    ..clones deficient in DNA polymerase eta (poleta), which, in humans, is defective in the variant form of xeroderma pigmentosum (XP-V)...
  6. Cheng H, Xie C, Zhang R, Hu S, Wang Z, Yue W. Xeroderma pigmentosum complementation group f polymorphisms influence risk of glioma. Asian Pac J Cancer Prev. 2013;14:4083-7 pubmed
    We conducted an exploratory investigation of whether variation in six common SNPs of xeroderma pigmentosum complementation group F (XPF) is associated with risk of glioma in a Chinese population...
  7. Sugasawa K. Xeroderma pigmentosum genes: functions inside and outside DNA repair. Carcinogenesis. 2008;29:455-65 pubmed publisher
    b>Xeroderma pigmentosum (XP) is an autosomal recessive disease, which is characterized by susceptibility to ultraviolet light (UV)-induced skin cancer...
  8. Park S, Dock M. Xeroderma pigmentosum: a case report. Pediatr Dent. 2003;25:397-400 pubmed
    This paper presents a case study of a child with xeroderma pigmentosum (XP). The disease results in sensitivity to UV radiation as a result of reduced activity in a defective enzyme responsible for DNA repair...
  9. Emmert S, Ueda T, Zumsteg U, Weber P, Khan S, Oh K, et al. Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). Exp Dermatol. 2009;18:64-8 pubmed publisher
    We examined the clinical, molecular and genetic features of a 16-year-old boy (XP2GO) with xeroderma pigmentosum (XP) and progressive neurological symptoms. The parents are not consanguineous...
  10. Messaoud O, Rekaya M, Ouragini H, Benfadhel S, Azaiez H, Kefi R, et al. Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity. Arch Dermatol Res. 2012;304:171-6 pubmed publisher
    b>Xeroderma pigmentosum (XP) is a rare disorder characterized by a high skin sun-sensitivity predisposing to skin cancers at an early age...
  11. Yang A, Miron S, Mouawad L, Duchambon P, Blouquit Y, Craescu C. Flexibility and plasticity of human centrin 2 binding to the xeroderma pigmentosum group C protein (XPC) from nuclear excision repair. Biochemistry. 2006;45:3653-63 pubmed
    ..2 is a component of the nucleotide excision repair system, as a subunit of the heterotrimer including xeroderma pigmentosum group C protein (XPC) and hHR23B...
  12. Honecker F, Mayer F, Stoop H, Oosterhuis J, Koch S, Bokemeyer C, et al. Xeroderma pigmentosum group a protein and chemotherapy resistance in human germ cell tumors. Lab Invest. 2003;83:1489-95 pubmed
    ..adolescents and adults to chemotherapy, in particular to cisplatin, has been attributed to low levels of xeroderma pigmentosum group A protein (XPA), a crucial component of the nucleotide excision repair DNA repair pathway...
  13. Blankenburg S, Konig I, Moessner R, Laspe P, Thoms K, Krueger U, et al. Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study. Carcinogenesis. 2005;26:1085-90 pubmed
    Individuals with the rare DNA repair deficiency syndrome xeroderma pigmentosum (XP) are sensitive to the sun and exhibit a 1000-fold increased risk for developing skin cancers, including cutaneous melanoma...
  14. 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;63:1048-57 pubmed
    b>Xeroderma pigmentosum group A (XPA) is a hereditary disorder characterized by cutaneous symptoms and progressive neurodegeneration...
  15. Ramkumar H, Brooks B, Cao X, Tamura D, DiGiovanna J, Kraemer K, et al. Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature. Surv Ophthalmol. 2011;56:348-61 pubmed publisher
    b>Xeroderma pigmentosum is a rare, autosomal recessive disease caused by a defect in DNA repair...
  16. Blankenburg S, Konig I, Moessner R, Laspe P, Thoms K, Krueger U, et al. No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma. Eur J Hum Genet. 2005;13:253-5 pubmed
    b>Xeroderma pigmentosum (XP) patients exhibit a 1000-fold increased risk for developing skin cancers including malignant melanoma...
  17. Herlin C, Saunière D, Huertas D. [Xeroderma pigmentosum: radical therapeutic procedure on the face using artificial skin]. Ann Chir Plast Esthet. 2009;54:594-9 pubmed publisher
    b>Xeroderma pigmentosum is a rare and severe photodermatitis without cure. Skin cancers are inevitable and give rise to iterative skin resections often mutilating especially in the face...
  18. Kleijer W, Laugel V, Berneburg M, Nardo T, Fawcett H, Gratchev A, et al. Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst). 2008;7:744-50 pubmed publisher
    ..diagnosis for DNA repair diseases has been performed in western Europe from the early seventies for xeroderma pigmentosum (XP) and from the mid-eighties for Cockayne syndrome (CS) and trichothiodystrophy (TTD)...
  19. Wang Y, DiGiovanna J, Stern J, Hornyak T, Raffeld M, Khan S, et al. Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas. Proc Natl Acad Sci U S A. 2009;106:6279-84 pubmed publisher
    ..To look for a direct role of ultraviolet radiation (UV) exposure in cutaneous melanoma induction, we studied xeroderma pigmentosum (XP) patients who have defective DNA repair resulting in a 1000-fold increase in melanoma risk...
  20. Lehmann A. DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Biochimie. 2003;85:1101-11 pubmed
    b>Xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD) are genetic disorders with very different clinical features, but all associated with defects in nucleotide excision repair...
  21. Andressoo J, Mitchell J, de Wit J, Hoogstraten D, Volker M, Toussaint W, et al. An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria. Cancer Cell. 2006;10:121-32 pubmed
    ..defects in nucleotide excision DNA repair (NER) can paradoxically result in elevated cancer incidence (xeroderma pigmentosum [XP]) or segmental progeria without cancer predisposition (Cockayne syndrome [CS] and trichothiodystrophy [..
  22. Liu G, Chen X. DNA polymerase eta, the product of the xeroderma pigmentosum variant gene and a target of p53, modulates the DNA damage checkpoint and p53 activation. Mol Cell Biol. 2006;26:1398-413 pubmed
    DNA polymerase eta (PolH) is the product of the xeroderma pigmentosum variant (XPV) gene and a well-characterized Y-family DNA polymerase for translesion synthesis...
  23. 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 pubmed
    b>Xeroderma pigmentosum (XP), a rare hereditary syndrome, is characterized by a hypersensitivity to solar irradiation due to a defect in nucleotide excision repair resulting in a predisposition to squamous and basal cell carcinomas as well ..
  24. Liu X, Zhang X, Qiao J, Fang H. Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type. Int J Med Sci. 2013;10:766-70 pubmed publisher
    b>Xeroderma pigmentosum-variant (XPV) is one type of XP, a rare autosomal recessive disorder, and caused by defects in the post replication repair machinery while nucleotide-excision repair (NER) is not impaired...
  25. Zahid S, Brownell I. Repairing DNA damage in xeroderma pigmentosum: T4N5 lotion and gene therapy. J Drugs Dermatol. 2008;7:405-8 pubmed
    Patients with xeroderma pigmentosum (XP) have defective DNA repair and are at a high risk for cutaneous malignancies. Standard treatments for XP are limited in scope and effectiveness...
  26. Boyle J, Ueda T, Oh K, Imoto K, Tamura D, Jagdeo J, et al. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. Hum Mutat. 2008;29:1194-208 pubmed publisher
    Patients with xeroderma pigmentosum (XP) have a 1,000-fold increase in ultraviolet (UV)-induced skin cancers while trichothiodystrophy (TTD) patients, despite mutations in the same genes, ERCC2 (XPD) or ERCC3 (XPB), are cancer-free...
  27. Kuschal C, DiGiovanna J, Khan S, Gatti R, Kraemer K. Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. Proc Natl Acad Sci U S A. 2013;110:19483-8 pubmed publisher
    ..the efficiency of readthrough, we selected homozygous and compound heterozygous skin fibroblasts from xeroderma pigmentosum (XP) patients with different PTCs in the XPC DNA repair gene...
  28. Scrima A, Konícková R, Czyzewski B, Kawasaki Y, Jeffrey P, Groisman R, et al. Structural basis of UV DNA-damage recognition by the DDB1-DDB2 complex. Cell. 2008;135:1213-23 pubmed publisher
    ..The structure provides insights into damage recognition in chromatin and suggests a mechanism by which the DDB1-associated CUL4 ubiquitin ligase targets proteins surrounding the site of damage...
  29. Thompson J, Ryan Z, Salisbury J, Kumar R. The structure of the human centrin 2-xeroderma pigmentosum group C protein complex. J Biol Chem. 2006;281:18746-52 pubmed
    ..plays a key role in centrosome function and stimulates nucleotide excision repair by binding to the xeroderma pigmentosum group C protein...
  30. Faili A, Aoufouchi S, Weller S, Vuillier F, Stary A, Sarasin A, et al. DNA polymerase eta is involved in hypermutation occurring during immunoglobulin class switch recombination. J Exp Med. 2004;199:265-70 pubmed
    ..It has been proposed, based on the V gene mutation pattern of patients with the cancer-prone xeroderma pigmentosum variant (XP-V) syndrome who are deficient in DNA polymerase eta (pol eta), that this enzyme could be ..
  31. Di Lucca J, Guedj M, Lacapere J, Fargnoli M, Bourillon A, Dieude P, et al. Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk. Eur J Cancer. 2009;45:3228-36 pubmed publisher
    b>Xeroderma pigmentosum variant (XPV) is a rare recessive autosomal genodermatosis predisposing to multiple early onset skin cancers, including melanoma. XPV results from mutations of the POLH gene that encodes a DNA translesion polymerase...
  32. Takahashi Y, Endo Y, Sugiyama Y, Inoue S, Iijima M, Tomita Y, et al. XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms. J Invest Dermatol. 2010;130:2481-8 pubmed publisher
    Comparisons of the clinical manifestations with gene mutations in patients with xeroderma pigmentosum group A (XPA) have suggested that those with mutations closer to the C-terminal coding region of the XPA gene have milder neurological ..
  33. Miyauchi Hashimoto H, Sugihara A, Tanaka K, Horio T. Ultraviolet radiation-induced impairment of tumor rejection is enhanced in xeroderma pigmentosum a gene-deficient mice. J Invest Dermatol. 2005;124:1313-7 pubmed
    b>Xeroderma pigmentosum (XP)A gene-deficient mice display dermatologic abnormalities similar to human XP, such as enhanced ultraviolet (UV)-induced acute inflammation and high incidence of UVB-induced skin cancer...
  34. Terunuma A, Ye J, Emmert S, Khan S, Kraemer K, Vogel J. Ultraviolet light selection assay to optimize oligonucleotide correction of mutations in endogenous xeroderma pigmentosum genes. Gene Ther. 2004;11:1729-34 pubmed
    ..can be used to evaluate and compare gene correction frequencies in different cell types obtained from a xeroderma pigmentosum (XP) patient, following treatment by different ODN-based approaches...
  35. Matakidou A, Eisen T, Fleischmann C, Bridle H, Houlston R. Evaluation of xeroderma pigmentosum XPA, XPC, XPD, XPF, XPB, XPG and DDB2 genes in familial early-onset lung cancer predisposition. Int J Cancer. 2006;119:964-7 pubmed
    Epidemiological data has implicated heterozygosity for xeroderma pigmentosum (XP) as a risk factor for lung cancer...
  36. Sidwell R, Sandison A, Wing J, Fawcett H, Seet J, Fisher C, et al. A novel mutation in the XPA gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma. Br J Dermatol. 2006;155:81-8 pubmed
    b>Xeroderma pigmentosum (XP) is an autosomal recessive disorder of, in most cases, defective nucleotide excision repair (NER) of ultraviolet radiation (UV)- and chemical-induced DNA damage...
  37. Theron T, Fousteri M, Volker M, Harries L, Botta E, Stefanini M, et al. Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome. Mol Cell Biol. 2005;25:8368-78 pubmed
    Defects in the XPD gene can result in several clinical phenotypes, including xeroderma pigmentosum (XP), trichothiodystrophy, and, less frequently, the combined phenotype of XP and Cockayne syndrome (XP-D/CS)...
  38. Kuru S, Yasuma M, Sakai M, Konagaya M, Moriwaki S. [Siblings with xeroderma pigmentosum group A showing mild cutaneous and various neurological manifestations]. Rinsho Shinkeigaku. 2006;46:134-9 pubmed
    We report siblings with xeroderma pigmentosum group A (XP-A) showing mild cutaneous and late-onset severe neurological manifestations. The elder brother first noticed unstability in walking at 16 years of age...
  39. Arbault S, Sojic N, Bruce D, Amatore C, Sarasin A, Vuillaume M. Oxidative stress in cancer prone xeroderma pigmentosum fibroblasts. Real-time and single cell monitoring of superoxide and nitric oxide production with microelectrodes. Carcinogenesis. 2004;25:509-15 pubmed
    ..These features are exacerbated in patients with Xeroderma pigmentosum (XP), a hereditary disease associated at the cellular level with DNA repair defects and a low catalase ..
  40. Senhaji M, Abidi O, Nadifi S, Benchikhi H, Khadir K, Ben Rekaya M, et al. c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum. Arch Dermatol Res. 2013;305:53-57 pubmed publisher
    b>Xeroderma pigmentosum is a rare autosomal recessive disease characterized by hypersensitivity to UV light which is due to alterations of the nucleotide excision repair pathway...
  41. Ueda T, Compe E, Catez P, Kraemer K, Egly J. Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients. J Exp Med. 2009;206:3031-46 pubmed publisher
    ..the XPD subunit of the DNA repair/transcription factor TFIIH result in the rare recessive genetic disorder xeroderma pigmentosum (XP)...
  42. Arlett C, Green M, Rogers P, Lehmann A, Plowman P. Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts. Br J Radiol. 2008;81:51-8 pubmed
    We have examined our ionizing radiation survival data for 33 xeroderma pigmentosum (XP) primary fibroblast lines and compared the data to that of 53 normal fibroblast lines, 7 Cockayne syndrome (CS) lines, 4 combined XP/CS lines and 8 ..
  43. Khan S, Oh K, Emmert S, Imoto K, Tamura D, DiGiovanna J, et al. XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms. DNA Repair (Amst). 2009;8:114-25 pubmed publisher
    Two unrelated xeroderma pigmentosum (XP) patients, with and without neurological abnormalities, respectively, had identical defects in the XPC DNA nucleotide excision repair (NER) gene...
  44. Kannouche P, Stary A. Xeroderma pigmentosum variant and error-prone DNA polymerases. Biochimie. 2003;85:1123-32 pubmed
    ..polymerases, polymerase eta carries out TLS past UV photoproducts and is deficient in the variant form of xeroderma pigmentosum (XP-V)...
  45. Totonchy M, Tamura D, Pantell M, Zalewski C, Bradford P, Merchant S, et al. Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration. Brain. 2013;136:194-208 pubmed publisher
    ..DNA repair complementation group and history of acute burning on minimal sun exposure in all patients with xeroderma pigmentosum, who had at least one complete audiogram, examined at the National Institutes of Health from 1971 to 2012...
  46. Jorgensen T, Visvanathan K, Ruczinski I, Thuita L, Hoffman S, Helzlsouer K. Breast cancer risk is not associated with polymorphic forms of xeroderma pigmentosum genes in a cohort of women from Washington County, Maryland. Breast Cancer Res Treat. 2007;101:65-71 pubmed
    The genes mutated in the cancer-prone syndrome, xeroderma pigmentosum (XP genes), have been well studied both biochemically and mechanistically...
  47. Hayashi M. Roles of oxidative stress in xeroderma pigmentosum. Adv Exp Med Biol. 2008;637:120-7 pubmed
    ..In xeroderma pigmentosum (XP) and Cockayne syndrome (CS), oxidative stress is associated with promoted occurrence of skin cancers ..
  48. Khan S, Oh K, Shahlavi T, Ueda T, Busch D, Inui H, et al. Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. Carcinogenesis. 2006;27:84-94 pubmed
    b>Xeroderma pigmentosum group C (XP-C) is a rare autosomal recessive disorder. Patients with two mutant alleles of the XPC DNA repair gene have sun sensitivity and a 1000-fold increase in skin cancers...
  49. Gratchev A, Strein P, Utikal J, Sergij G. Molecular genetics of Xeroderma pigmentosum variant. Exp Dermatol. 2003;12:529-36 pubmed
    b>Xeroderma pigmentosum (XP) is an autosomal recessive disease characterized by sun sensitivity, early onset of freckling and subsequent neoplastic changes on sun-exposed skin...
  50. Velez Cruz R, Zadorin A, Coin F, Egly J. Sirt1 suppresses RNA synthesis after UV irradiation in combined xeroderma pigmentosum group D/Cockayne syndrome (XP-D/CS) cells. Proc Natl Acad Sci U S A. 2013;110:E212-20 pubmed publisher
    Specific mutations in the XPD subunit of transcription factor IIH result in combined xeroderma pigmentosum (XP)/Cockayne syndrome (CS), a severe DNA repair disorder characterized at the cellular level by a transcriptional arrest ..
  51. Niedernhofer L, Bohr V, Sander M, Kraemer K. Xeroderma pigmentosum and other diseases of human premature aging and DNA repair: molecules to patients. Mech Ageing Dev. 2011;132:340-7 pubmed publisher
    A workshop(1) to share, consider and discuss the latest developments in understanding xeroderma pigmentosum and other human diseases caused by defects in nucleotide excision repair (NER) of DNA damage was held on September 21-24, 2010 in ..
  52. Magnaldo T, Sarasin A. Xeroderma pigmentosum: from symptoms and genetics to gene-based skin therapy. Cells Tissues Organs. 2004;177:189-98 pubmed
    b>Xeroderma pigmentosum (XP) is a rare, recessively inherited genodermatosis prone to ultraviolet (UV)-induced skin neoplasms from keratinocyte origin, i.e. basal and squamous cell carcinoma...
  53. Khan S, Yamanegi K, Zheng Z, Boyle J, Imoto K, Oh K, et al. XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients. Hum Mutat. 2010;31:167-75 pubmed publisher
    ..sequences (BPS) in intron 3 of the XPC DNA repair gene affect pre-mRNA splicing in association with xeroderma pigmentosum (XP) with many skin cancers (XP101TMA) or no skin cancer (XP72TMA), respectively...
  54. Kraemer K, Patronas N, Schiffmann R, Brooks B, Tamura D, DiGiovanna J. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience. 2007;145:1388-96 pubmed
    Patients with the rare genetic disorders, xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS) have defects in DNA nucleotide excision repair (NER). The NER pathway involves at least 28 genes...
  55. Couve Privat S, Le Bret M, Traiffort E, Queille S, Coulombe J, Bouadjar B, et al. Functional analysis of novel sonic hedgehog gene mutations identified in basal cell carcinomas from xeroderma pigmentosum patients. Cancer Res. 2004;64:3559-65 pubmed
    ..We present data showing unique SHH mutations in BCCs from repair-deficient, skin cancer-prone xeroderma pigmentosum (XP) patients, which are characterized by high levels of UV-specific mutations in key genes involved in ..
  56. Fernandes M, Sangwan V, Vemuganti G. Limbal stem cell deficiency and xeroderma pigmentosum: a case report. Eye (Lond). 2004;18:741-3 pubmed
  57. Nishi R, Okuda Y, Watanabe E, Mori T, Iwai S, Masutani C, et al. Centrin 2 stimulates nucleotide excision repair by interacting with xeroderma pigmentosum group C protein. Mol Cell Biol. 2005;25:5664-74 pubmed
    b>Xeroderma pigmentosum group C (XPC) protein plays a key role in DNA damage recognition in global genome nucleotide excision repair (NER)...
  58. Rubió Casadevall J, Graña Suárez B, Hernández Yagüe X, Vayreda Ribera J, Huc Grasa O, Brunet Vidal J. Xeroderma pigmentosum: neck lymph node metastasis of a squamous cell carcinoma of the skin treated with cetuximab. Eur J Dermatol. 2009;19:163-5 pubmed publisher
    b>Xeroderma pigmentosum is a genodermatosis characterized by defects in the DNA nucleotide excision repair pathway, which increases the risk of suffering skin cancers...
  59. Abbaszadeh F, Clingen P, Arlett C, Plowman P, Bourton E, Themis M, et al. A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensitivity in a patient with xeroderma pigmentosum. J Med Genet. 2010;47:176-81 pubmed publisher
    ..A patient with xeroderma pigmentosum complementation group C, with a scalp angiosarcoma, exhibited dramatic clinical radiosensitivity following ..
  60. Bradford P, Goldstein A, Tamura D, Khan S, Ueda T, Boyle J, et al. Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. J Med Genet. 2011;48:168-76 pubmed publisher
    The frequency of cancer, neurologic degeneration and mortality in xeroderma pigmentosum (XP) patients with defective DNA repair was determined in a four decade natural history study...
  61. Cleaver J, Lam E, Revet I. Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity. Nat Rev Genet. 2009;10:756-68 pubmed publisher
    Mutations in genes on the nucleotide excision repair pathway are associated with diseases, such as xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy, that involve skin cancer and developmental and neurological symptoms...
  62. Messaoud O, Ben Rekaya M, Cherif W, Talmoudi F, Boussen H, Mokhtar I, et al. Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients. Int J Dermatol. 2010;49:544-8 pubmed publisher
    b>Xeroderma Pigmentosum (XP) is a rare autosomal recessive disorder characterized by cutaneous and ocular alterations...
  63. Kleijer W, van der Sterre M, Garritsen V, Raams A, Jaspers N. Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk. Prenat Diagn. 2007;27:1133-7 pubmed
    Evaluation of results in a consecutive series of 76 prenatal diagnoses for xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) made since 1977.
  64. Charbonnier J, Renaud E, Miron S, Le Du M, Blouquit Y, Duchambon P, et al. Structural, thermodynamic, and cellular characterization of human centrin 2 interaction with xeroderma pigmentosum group C protein. J Mol Biol. 2007;373:1032-46 pubmed
    ..biological action is mediated by the binding to a short fragment (N847-R863) from the C-terminal region of xeroderma pigmentosum group C (XPC) protein...
  65. Inui H, Oh K, Nadem C, Ueda T, Khan S, Metin A, et al. Xeroderma pigmentosum-variant patients from America, Europe, and Asia. J Invest Dermatol. 2008;128:2055-68 pubmed publisher
    b>Xeroderma pigmentosum-variant (XP-V) patients have sun sensitivity and increased skin cancer risk...
  66. Hoeijmakers J. DNA damage, aging, and cancer. N Engl J Med. 2009;361:1475-85 pubmed publisher
  67. Redondo P, Prieto J, Muñoz I, Alibés A, Stricher F, Serrano L, et al. Molecular basis of xeroderma pigmentosum group C DNA recognition by engineered meganucleases. Nature. 2008;456:107-11 pubmed publisher
    b>Xeroderma pigmentosum is a monogenic disease characterized by hypersensitivity to ultraviolet light...
  68. Hirai Y, Kodama Y, Moriwaki S, Noda A, Cullings H, MacPhee D, et al. Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population. Mutat Res. 2006;601:171-8 pubmed
    ..To address the issue, xeroderma pigmentosum (XP) in Japan is an interesting candidate because of three major reasons: XP is an autosomal recessive ..
  69. Mseddi M, Sellami D, Elloumi Y, Aloulou Y, Kammoun B, Turki H, et al. [Ophtalmologic manifestations of the xeroderma pigmentosum]. Tunis Med. 2006;84:542-4 pubmed
    ..Tumor size was 1 to 6 cm. Ocular involvement occurs in up to 80% of cases of XP. Infection, néoplasia, conjonctiva are the most commun finding. Patients with XP can acquire squamous cell carcinoma at an early age...
  70. Miyazaki R, Nagata T, Kai T, Takahashi S. [Anesthesia for a patient with xeroderma pigmentosum]. Masui. 2007;56:439-41 pubmed
    A 23-year-old man with xeroderma pigmentosum underwent laparoscopic cholecystectomy. He experienced transient worsening of the neurological symptom after anesthesia with volatile agents in the previous surgery...
  71. Chowdhury R, Padhi T, Das G. Keratoacanthoma of the conjunctiva complicating xeroderma pigmentosum. Indian J Dermatol Venereol Leprol. 2005;71:430-1 pubmed
  72. Itoh T, O Shea C, Linn S. Impaired regulation of tumor suppressor p53 caused by mutations in the xeroderma pigmentosum DDB2 gene: mutual regulatory interactions between p48(DDB2) and p53. Mol Cell Biol. 2003;23:7540-53 pubmed
    ..Mutations in the human DDB2 gene generate the E subgroup of xeroderma pigmentosum (XP-E)...
  73. Arlett C, Plowman P, Rogers P, Parris C, Abbaszadeh F, Green M, et al. Clinical and cellular ionizing radiation sensitivity in a patient with xeroderma pigmentosum. Br J Radiol. 2006;79:510-7 pubmed
    XP14BR is a cell line derived from a xeroderma pigmentosum (XP) patient from complementation group C. The patient was unusual in presenting with an angiosarcoma of the scalp, treated by surgical excision and radiotherapy...
  74. Zhou N, Bates S, Bouziane M, Stary A, Sarasin A, O Connor T. Efficient repair of cyclobutane pyrimidine dimers at mutational hot spots is restored in complemented Xeroderma pigmentosum group C and trichothiodystrophy/xeroderma pigmentosum group D cells. J Mol Biol. 2003;332:337-51 pubmed
    b>Xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) are rare heritable diseases. Patients suffering from XP and 50% of TTD afflicted individuals are photosensitive and have a high susceptibility to develop skin tumors...
  75. Itoh T. Xeroderma pigmentosum group E and DDB2, a smaller subunit of damage-specific DNA binding protein: proposed classification of xeroderma pigmentosum, Cockayne syndrome, and ultraviolet-sensitive syndrome. J Dermatol Sci. 2006;41:87-96 pubmed
    b>Xeroderma pigmentosum is a rare photosensitive syndrome that comprises eight different genetic diseases (A to G; variant (V))...
  76. Tanioka M, Masaki T, Ono R, Nagano T, Otoshi Honda E, Matsumura Y, et al. Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type. J Invest Dermatol. 2007;127:1745-51 pubmed
    ..in 16 Japanese patients, who were diagnosed, both clinically and at a cellular level, as being of the xeroderma pigmentosum variant type (XPV)...
  77. Matsuda N, Azuma K, Saijo M, Iemura S, Hioki Y, Natsume T, et al. DDB2, the xeroderma pigmentosum group E gene product, is directly ubiquitylated by Cullin 4A-based ubiquitin ligase complex. DNA Repair (Amst). 2005;4:537-45 pubmed
    b>Xeroderma pigmentosum (XP) is a genetic disease characterized by hypersensitivity to UV irradiation and high incidence of skin cancer caused by inherited defects in DNA repair...
  78. Bienko M, Green C, Crosetto N, Rudolf F, Zapart G, Coull B, et al. Ubiquitin-binding domains in Y-family polymerases regulate translesion synthesis. Science. 2005;310:1821-4 pubmed
    ..UBZ domain of poleta is essential to efficiently restore a normal response to ultraviolet irradiation in xeroderma pigmentosum variant (XP-V) fibroblasts...
  79. SCHARER O. XPG: its products and biological roles. Adv Exp Med Biol. 2008;637:83-92 pubmed
    ..Another set of XP-G patient is much more severely affected, displaying combined symptoms of xeroderma pigmentosum and Cockayne syndrome, referred to as XP/CS complex...
  80. Daya Grosjean L. Xeroderma pigmentosum and skin cancer. Adv Exp Med Biol. 2008;637:19-27 pubmed
    The hypersensitivity of DNA repair deficient xeroderma pigmentosum (XP) patients to solar irradiation results in the development of high levels of squamous and basal cell carcinomas as well as malignant melanomas in early childhood...
  81. Wijnhoven S, Hoogervorst E, de Waard H, van der Horst G, van Steeg H. Tissue specific mutagenic and carcinogenic responses in NER defective mouse models. Mutat Res. 2007;614:77-94 pubmed
    ..As such these models (Xpa, Xpc and Xpe) recapitulate the human xeroderma pigmentosum (XP) syndrome...
  82. Marini F, Nardo T, Giannattasio M, Minuzzo M, Stefanini M, Plevani P, et al. DNA nucleotide excision repair-dependent signaling to checkpoint activation. Proc Natl Acad Sci U S A. 2006;103:17325-30 pubmed
    ..phosphorylation of the key checkpoint proteins Chk1 and p53, in primary fibroblasts from patients with xeroderma pigmentosum (XP), Cockayne syndrome (CS), trichothiodystrophy (TTD), or UV light-sensitive syndrome...
  83. SCHARER O. Hot topics in DNA repair: the molecular basis for different disease states caused by mutations in TFIIH and XPG. DNA Repair (Amst). 2008;7:339-44 pubmed
    ..in genes involved in nucleotide excision repair (NER) are associated with three genetic disorders, xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD)...
  84. Ito S, Kuraoka I, Chymkowitch P, Compe E, Takedachi A, Ishigami C, et al. XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients. Mol Cell. 2007;26:231-43 pubmed
    Mutations in the human XPG gene give rise to an inherited photosensitive disorder, xeroderma pigmentosum (XP) associated with Cockayne syndrome (XP-G/CS)...
  85. Wang Y, Woodgate R, McManus T, Mead S, McCormick J, Maher V. Evidence that in xeroderma pigmentosum variant cells, which lack DNA polymerase eta, DNA polymerase iota causes the very high frequency and unique spectrum of UV-induced mutations. Cancer Res. 2007;67:3018-26 pubmed
    b>Xeroderma pigmentosum variant (XPV) patients have normal DNA excision repair, yet are predisposed to develop sunlight-induced cancer...
  86. Niedernhofer L. Tissue-specific accelerated aging in nucleotide excision repair deficiency. Mech Ageing Dev. 2008;129:408-15 pubmed publisher
    ..Defects in NER cause three distinct human diseases: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy...
  87. Kashiyama K, Nakazawa Y, Pilz D, Guo C, Shimada M, Sasaki K, et al. Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. Am J Hum Genet. 2013;92:807-19 pubmed publisher
    ..For the rare combined xeroderma pigmentosum (XP) and CS phenotype, all identified mutations are in three of the XP-associated genes, ERCC3 (XPB), ..