{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T16:18:10Z","timestamp":1786119490300,"version":"build-2736575974"},"reference-count":32,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,4]]},"DOI":"10.1097\/dad.0b013e3181af0a5e","type":"journal-article","created":{"date-parts":[[2010,3,20]],"date-time":"2010-03-20T03:23:36Z","timestamp":1269055416000},"page":"109-117","source":"Crossref","is-referenced-by-count":18,"title":["Diagnosing Xeroderma Pigmentosum Group C by Immunohistochemistry"],"prefix":"10.1097","volume":"32","author":[{"given":"S\u00e9bastien","family":"de Feraudy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imenne","family":"Boubakour-Azzouz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Fraitag","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Berneburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loretta","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Chew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol L","family":"Clericuzio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bari","family":"Cunningham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Whitney D","family":"Tope","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James E","family":"Cleaver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-1-20210202","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1038\/218652a0","article-title":"Defective repair replication in xeroderma pigmentosum.","volume":"218","author":"Cleaver","year":"1968","journal-title":"Nature"},{"key":"R3-1-20210202","first-page":"d1024","article-title":"UV damage, DNA repair and skin carcinogenesis.","volume":"7","author":"Cleaver","year":"2002","journal-title":"Front Bioscience"},{"key":"R5-1-20210202","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1001\/archderm.1987.01660260111026","article-title":"Xeroderma pigmentosum: cutaneous, ocular and neurological abnormalities in 830 published cases.","volume":"123","author":"Kraemer","year":"1987","journal-title":"Arch Dermatol"},{"key":"R6-1-20210202","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1038\/nrc1652","article-title":"Cancer in xeroderma pigmentosum and related disorders of DNA repair.","volume":"5","author":"Cleaver","year":"2005","journal-title":"Nat Rev Cancer"},{"key":"R7-1-20210202","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1038\/35077232","article-title":"Genome maintenance mechanisms for preventing cancer.","volume":"411","author":"Hoeijmakers","year":"2001","journal-title":"Nature"},{"key":"R8-1-20210202","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/S0079-6603(04)79004-2","article-title":"Nucleotide excision repair.","volume":"79","author":"Reardon","year":"2005","journal-title":"Prog Nucleic Acid Res Mol Biol"},{"key":"R9-1-20210202","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.molcel.2007.03.009","article-title":"Distinct roles for the XPB\/p52 and XPD\/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair.","volume":"26","author":"Coin","year":"2007","journal-title":"Mol Cell"},{"key":"R10-1-20210202","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1016\/j.dnarep.2007.03.025","article-title":"Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage.","volume":"6","author":"Oh","year":"2007","journal-title":"DNA Repair (Amst)"},{"key":"R11-1-20210202","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1038\/ncb1417","article-title":"The Y-family DNA polymerase kappa (pol kappa) functions in mammalian nucleotide-excision repair.","volume":"8","author":"Ogi","year":"2006","journal-title":"Nat Cell Biol"},{"key":"R12-1-20210202","doi-asserted-by":"crossref","first-page":"10124","DOI":"10.1073\/pnas.88.22.10124","article-title":"A role for sunlight in skin cancer: UV-induced p53 mutations in squamous cell carcinoma.","volume":"88","author":"Brash","year":"1991","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R13-1-20210202","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1111\/j.1751-1097.1995.tb05262.x","article-title":"p53 gene mutations and photocarcinogenesis.","volume":"62","author":"Nataraj","year":"1995","journal-title":"Photochem Photobiol"},{"key":"R14-1-20210202","doi-asserted-by":"crossref","first-page":"10519","DOI":"10.1073\/pnas.90.22.10529","article-title":"Specific UV-induced mutation spectrum in the p53 gene of skin tumors from DNA-repair-deficient xeroderma pigmentosum patients.","volume":"90","author":"Dumaz","year":"1993","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R16-1-20210202","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1038\/sj.jid.5700555","article-title":"Xeroderma pigmentosum group C in an isolated region of Guatemala.","volume":"127","author":"Cleaver","year":"2007","journal-title":"J Invest Dermatol"},{"key":"R17-1-20210202","first-page":"1001","article-title":"High prevalence of point mutations in exon 6 of xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia.","volume":"53","author":"Nishigori","year":"1993","journal-title":"Am J Hum Genet"},{"key":"R18-1-20210202","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/0921-8777(92)90081-D","article-title":"Identification of splicing mutations of the last nucleotide of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum.","volume":"273","author":"Satokata","year":"1992","journal-title":"Mutat Res"},{"key":"R19-1-20210202","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.dnarep.2008.01.014","article-title":"Incidence of DNA repair deficiency disorders in Western Europe: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.","volume":"7","author":"Kleijer","year":"2008","journal-title":"DNA Repair (Amst)"},{"key":"R20-1-20210202","doi-asserted-by":"crossref","first-page":"1821","DOI":"10.1093\/carcin\/21.10.1821","article-title":"A new xeroderma pigmentosum group C poly(AT) insertion\/deletion polymorphism.","volume":"21","author":"Khan","year":"2000","journal-title":"Carcinogenesis"},{"key":"R21-1-20210202","doi-asserted-by":"crossref","first-page":"3624","DOI":"10.1093\/nar\/gkf469","article-title":"The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function.","volume":"30","author":"Khan","year":"2002","journal-title":"Nucleic Acids Res"},{"key":"R22-1-20210202","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1093\/hmg\/ddh026","article-title":"Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.","volume":"13","author":"Khan","year":"2004","journal-title":"Hum Mol Genet"},{"key":"R23-1-20210202","first-page":"1974","article-title":"Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.","volume":"60","author":"Chavanne","year":"2000","journal-title":"Cancer Res"},{"key":"R24-1-20210202","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.dnarep.2006.09.008","article-title":"A novel XPC pathogenic variant detected in archival material from a patient diagnosed with xeroderma pigmentosum: a case report and review of the genetic variants reported in XPC.","volume":"6","author":"Rivera-Begeman","year":"2007","journal-title":"DNA Repair (Amst)"},{"key":"R25-1-20210202","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1038\/nmeth1110","article-title":"Multiplex amplification of large sets of human exons.","volume":"4","author":"Porreca","year":"2007","journal-title":"Nat Methods"},{"key":"R26-1-20210202","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1111\/j.1365-2133.2004.06311.x","article-title":"Incidence of xeroderma pigmentosum in Larkana, Pakistan: a seven year study.","volume":"152","author":"Bhutto","year":"2005","journal-title":"Br J Dermatol"},{"key":"R27-1-20210202","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1093\/carcin\/bgi204","article-title":"Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.","volume":"27","author":"Khan","year":"2006","journal-title":"Carcinogenesis"},{"key":"R28-1-20210202","doi-asserted-by":"crossref","first-page":"7","DOI":"10.2174\/187221509787236219","article-title":"Studies on nonsense mediated decay reveal novel therapeutic options for genetic diseases.","volume":"3","author":"Bashyam","year":"2009","journal-title":"Recent Pat DNA Gene Seq"},{"key":"R29-1-20210202","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1046\/j.1523-1747.2002.01782.x","article-title":"Relationship of neurologic degeneration to genotype in xeroderma pigmentosum group G patients.","volume":"118","author":"Emmert","year":"2002","journal-title":"J Invest Dermatol"},{"key":"R30-1-20210202","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1073\/pnas.022473899","article-title":"Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients.","volume":"99","author":"Broughton","year":"2002","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R31-1-20210202","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1002\/humu.20392","article-title":"Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.","volume":"27","author":"Oh","year":"2006","journal-title":"Hum Mutat"},{"key":"R32-1-20210202","doi-asserted-by":"crossref","first-page":"8658","DOI":"10.1073\/pnas.94.16.8658","article-title":"Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair\/transcription gene.","volume":"94","author":"Taylor","year":"1997","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R33-1-20210202","doi-asserted-by":"crossref","first-page":"2919","DOI":"10.1093\/hmg\/11.23.2919","article-title":"Reduced level of the repair\/transcription factor TFIIH in trichothiodystrophy.","volume":"11","author":"Botta","year":"2002","journal-title":"Hum Mol Genet"},{"key":"R34-1-20210202","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1086\/302063","article-title":"Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.","volume":"63","author":"Botta","year":"1998","journal-title":"Am J Hum Genet"},{"key":"R35-1-20210202","doi-asserted-by":"crossref","first-page":"3353","DOI":"10.1128\/MCB.7.9.3353","article-title":"Unique DNA repair properties of a xeroderma pigmentosum revertant.","volume":"7","author":"Cleaver","year":"1987","journal-title":"Mol Cell Biol"}],"container-title":["The American Journal of Dermatopathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.1097\/DAD.0b013e3181af0a5e","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T18:17:10Z","timestamp":1786040230000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00000372-201004000-00001"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,4]]},"references-count":32,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010]]}},"URL":"https:\/\/doi.org\/10.1097\/dad.0b013e3181af0a5e","relation":{},"ISSN":["0193-1091"],"issn-type":[{"value":"0193-1091","type":"print"}],"subject":[],"published":{"date-parts":[[2010,4]]}}}