{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T22:58:17Z","timestamp":1791068297816,"version":"4.1.0"},"reference-count":48,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2008,2,1]],"date-time":"2008-02-01T00:00:00Z","timestamp":1201824000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["DNA Repair"],"published-print":{"date-parts":[[2008,2]]},"DOI":"10.1016\/j.dnarep.2007.10.007","type":"journal-article","created":{"date-parts":[[2008,1,7]],"date-time":"2008-01-07T15:53:42Z","timestamp":1199721222000},"page":"339-344","source":"Crossref","is-referenced-by-count":38,"title":["The molecular basis for different disease states caused by mutations in TFIIH and XPG"],"prefix":"10.1016","volume":"7","author":[{"given":"Orlando D.","family":"Sch\u00e4rer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.dnarep.2007.10.007_bib1","series-title":"DNA Repair and Mutagenesis","author":"Friedberg","year":"2005"},{"key":"10.1016\/j.dnarep.2007.10.007_bib2","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1021\/cr040483f","article-title":"Molecular mechanisms of Mammalian global genome nucleotide excision repair","volume":"106","author":"Gillet","year":"2006","journal-title":"Chem. Rev."},{"key":"10.1016\/j.dnarep.2007.10.007_bib3","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/nrm703","article-title":"Mechanisms of transcription-coupled DNA repair","volume":"3","author":"Svejstrup","year":"2002","journal-title":"Nat. Rev. Mol. Cell. Biol."},{"key":"10.1016\/j.dnarep.2007.10.007_bib4","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1016\/j.biochi.2003.09.010","article-title":"DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy","volume":"85","author":"Lehmann","year":"2003","journal-title":"Biochimie"},{"key":"10.1016\/j.dnarep.2007.10.007_bib5","doi-asserted-by":"crossref","first-page":"5955","DOI":"10.1093\/emboj\/16.19.5955","article-title":"The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex","volume":"16","author":"van Gool","year":"1997","journal-title":"EMBO J."},{"key":"10.1016\/j.dnarep.2007.10.007_bib6","doi-asserted-by":"crossref","first-page":"6803","DOI":"10.1128\/MCB.17.12.6803","article-title":"Recruitment of the putative transcription-repair coupling factor CSB\/ERCC6 to RNA polymerase II elongation complexes","volume":"17","author":"Tantin","year":"1997","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.dnarep.2007.10.007_bib7","doi-asserted-by":"crossref","first-page":"4306","DOI":"10.1073\/pnas.94.9.4306","article-title":"Reduced RNA polymerase II transcription in intact and permeabilized Cockayne syndrome group B cells","volume":"94","author":"Balajee","year":"1997","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.dnarep.2007.10.007_bib8","doi-asserted-by":"crossref","first-page":"10503","DOI":"10.1073\/pnas.180169797","article-title":"UV-induced inhibition of transcription involves repression of transcription initiation and phosphorylation of RNA polymerase II","volume":"97","author":"Rockx","year":"2000","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.dnarep.2007.10.007_bib9","doi-asserted-by":"crossref","first-page":"15410","DOI":"10.1073\/pnas.0404587101","article-title":"Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome","volume":"101","author":"Horibata","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.dnarep.2007.10.007_bib10","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":"10.1016\/j.dnarep.2007.10.007_bib11","doi-asserted-by":"crossref","first-page":"3116","DOI":"10.1073\/pnas.94.7.3116","article-title":"A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function","volume":"94","author":"Nouspikel","year":"1997","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.dnarep.2007.10.007_bib12","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1126\/science.8465201","article-title":"DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor","volume":"260","author":"Schaeffer","year":"1993","journal-title":"Science"},{"key":"10.1016\/j.dnarep.2007.10.007_bib13","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1038\/368769a0","article-title":"Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II","volume":"368","author":"Drapkin","year":"1994","journal-title":"Nature"},{"key":"10.1016\/j.dnarep.2007.10.007_bib14","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1038\/369578a0","article-title":"RAD25 is a DNA helicase required for DNA repair and RNA polymerase II transcription","volume":"369","author":"Guzder","year":"1994","journal-title":"Nature"},{"key":"10.1016\/j.dnarep.2007.10.007_bib15","doi-asserted-by":"crossref","first-page":"2388","DOI":"10.1002\/j.1460-2075.1994.tb06522.x","article-title":"The ERCC2\/DNA repair protein is associated with the class II BTF2\/TFIIH transcription factor","volume":"13","author":"Schaeffer","year":"1994","journal-title":"EMBO J."},{"key":"10.1016\/j.dnarep.2007.10.007_bib16","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1016\/S0092-8674(02)00795-X","article-title":"Requirement of yeast RAD2, a homolog of human XPG gene, for efficient RNA polymerase II transcription implications for Cockayne syndrome","volume":"109","author":"Lee","year":"2002","journal-title":"Cell"},{"key":"10.1016\/j.dnarep.2007.10.007_bib17","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/81603","article-title":"Sublimiting concentration of TFIIH transcription\/DNA repair factor causes TTD-A trichothiodystrophy disorder","volume":"26","author":"Vermeulen","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.dnarep.2007.10.007_bib18","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":"10.1016\/j.dnarep.2007.10.007_bib19","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1016\/S1097-2765(00)80098-2","article-title":"A mouse model for the basal transcription\/DNA repair syndrome trichothiodystrophy","volume":"1","author":"de Boer","year":"1998","journal-title":"Mol. Cell"},{"key":"10.1016\/j.dnarep.2007.10.007_bib20","doi-asserted-by":"crossref","first-page":"2797","DOI":"10.1093\/hmg\/10.24.2797","article-title":"Mutations in the general transcription factor TFIIH result in beta-thalassemia in individuals with trichothiodystrophy","volume":"10","author":"Viprakasit","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.dnarep.2007.10.007_bib21","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/j.molcel.2007.03.013","article-title":"XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G\/CS patients","volume":"26","author":"Ito","year":"2007","journal-title":"Mol. Cell"},{"key":"10.1016\/j.dnarep.2007.10.007_bib22","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1101\/gad.14.3.349","article-title":"Nucleotide excision repair of DNA with recombinant human proteins: definition of the minimal set of factors, active forms of TFIIH, and modulation by CAK","volume":"14","author":"Araujo","year":"2000","journal-title":"Genes Dev."},{"key":"10.1016\/j.dnarep.2007.10.007_bib23","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.molcel.2005.10.024","article-title":"p8\/TTD-A as a repair-specific TFIIH subunit","volume":"21","author":"Coin","year":"2006","journal-title":"Mol. Cell"},{"key":"10.1016\/j.dnarep.2007.10.007_bib24","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/S0092-8674(02)00692-X","article-title":"XPD mutations prevent TFIIH-dependent transactivation by nuclear receptors and phosphorylation of RARalpha","volume":"109","author":"Keriel","year":"2002","journal-title":"Cell"},{"key":"10.1016\/j.dnarep.2007.10.007_bib25","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1016\/S1097-2765(03)00182-5","article-title":"Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients","volume":"11","author":"Dubaele","year":"2003","journal-title":"Mol. Cell"},{"key":"10.1016\/j.dnarep.2007.10.007_bib26","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1016\/j.biochi.2003.10.014","article-title":"The XPG story","volume":"85","author":"Clarkson","year":"2003","journal-title":"Biochimie"},{"key":"10.1016\/j.dnarep.2007.10.007_bib27","doi-asserted-by":"crossref","first-page":"5637","DOI":"10.1074\/jbc.274.9.5637","article-title":"Conserved residues of human XPG protein important for nuclease activity and function in nucleotide excision repair","volume":"274","author":"Constantinou","year":"1999","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.dnarep.2007.10.007_bib28","doi-asserted-by":"crossref","first-page":"2415","DOI":"10.1074\/jbc.270.6.2415","article-title":"Reconstitution of human DNA repair excision nuclease in a highly defined system","volume":"270","author":"Mu","year":"1995","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.dnarep.2007.10.007_bib29","doi-asserted-by":"crossref","first-page":"2281","DOI":"10.1128\/MCB.21.7.2281-2291.2001","article-title":"Strong functional interactions of TFIIH with XPC and XPG in human DNA nucleotide excision repair, without a preassembled repairosome","volume":"21","author":"Araujo","year":"2001","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.dnarep.2007.10.007_bib30","doi-asserted-by":"crossref","first-page":"6065","DOI":"10.1128\/MCB.25.14.6065-6076.2005","article-title":"Dysregulation of the peroxisome proliferator-activated receptor target genes by XPD mutations","volume":"25","author":"Compe","year":"2005","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.dnarep.2007.10.007_bib31","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.molcel.2004.10.007","article-title":"Selective regulation of vitamin D receptor-responsive genes by TFIIH","volume":"16","author":"Drane","year":"2004","journal-title":"Mol. Cell"},{"key":"10.1016\/j.dnarep.2007.10.007_bib32","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/85864","article-title":"A temperature-sensitive disorder in basal transcription and DNA repair in humans","volume":"27","author":"Vermeulen","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.dnarep.2007.10.007_bib33","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1038\/ng1385","article-title":"Identification of TFB5, a new component of general transcription and DNA repair factor IIH","volume":"36","author":"Ranish","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.dnarep.2007.10.007_bib34","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1038\/ng1387","article-title":"A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A","volume":"36","author":"Giglia-Mari","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.dnarep.2007.10.007_bib35","doi-asserted-by":"crossref","first-page":"e156","DOI":"10.1371\/journal.pbio.0040156","article-title":"Dynamic interaction of TTDA with TFIIH is stabilized by nucleotide excision repair in living cells","volume":"4","author":"Giglia-Mari","year":"2006","journal-title":"PLoS Biol."},{"key":"10.1016\/j.dnarep.2007.10.007_bib36","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1038\/2491","article-title":"Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH","volume":"20","author":"Coin","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.dnarep.2007.10.007_bib37","doi-asserted-by":"crossref","first-page":"3640","DOI":"10.1128\/MCB.00030-07","article-title":"DNA repair and transcriptional deficiencies caused by mutations in the Drosophila p52 subunit of TFIIH generate developmental defects and chromosome fragility","volume":"27","author":"Fregoso","year":"2007","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.dnarep.2007.10.007_bib38","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":"10.1016\/j.dnarep.2007.10.007_bib39","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":"10.1016\/j.dnarep.2007.10.007_bib40","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1093\/emboj\/19.5.1157","article-title":"UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome","volume":"19","author":"Berneburg","year":"2000","journal-title":"EMBO J."},{"key":"10.1016\/j.dnarep.2007.10.007_bib41","doi-asserted-by":"crossref","first-page":"8368","DOI":"10.1128\/MCB.25.18.8368-8378.2005","article-title":"Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome","volume":"25","author":"Theron","year":"2005","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.dnarep.2007.10.007_bib42","doi-asserted-by":"crossref","first-page":"2157","DOI":"10.1021\/bi9524124","article-title":"Interactions involving the human RNA polymerase II transcription\/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein","volume":"35","author":"Iyer","year":"1996","journal-title":"Biochemistry"},{"key":"10.1016\/j.dnarep.2007.10.007_bib43","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1038\/nsmb782","article-title":"TFIIH contains a PH domain involved in DNA nucleotide excision repair","volume":"11","author":"Gervais","year":"2004","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.dnarep.2007.10.007_bib44","doi-asserted-by":"crossref","first-page":"10670","DOI":"10.1128\/MCB.24.24.10670-10680.2004","article-title":"Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage","volume":"24","author":"Thorel","year":"2004","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.dnarep.2007.10.007_bib45","doi-asserted-by":"crossref","first-page":"7030","DOI":"10.1074\/jbc.M412228200","article-title":"The spacer region of XPG mediates recruitment to nucleotide excision repair complexes and determines substrate specificity","volume":"280","author":"Dunand-Sauthier","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.dnarep.2007.10.007_bib46","doi-asserted-by":"crossref","first-page":"3053","DOI":"10.1093\/nar\/gkm092","article-title":"Domain swapping between FEN-1 and XPG defines regions in XPG that mediate nucleotide excision repair activity and substrate specificity","volume":"35","author":"Hohl","year":"2007","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.dnarep.2007.10.007_bib47","doi-asserted-by":"crossref","first-page":"5293","DOI":"10.1093\/emboj\/cdg489","article-title":"The comings and goings of nucleotide excision repair factors on damaged DNA","volume":"22","author":"Riedl","year":"2003","journal-title":"EMBO J."},{"key":"10.1016\/j.dnarep.2007.10.007_bib48","doi-asserted-by":"crossref","first-page":"8868","DOI":"10.1128\/MCB.00695-06","article-title":"Recruitment of the nucleotide excision repair endonuclease XPG to sites of UV-induced DNA damage depends on functional TFIIH","volume":"26","author":"Zotter","year":"2006","journal-title":"Mol. Cell Biol."}],"container-title":["DNA Repair"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1568786407003771?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1568786407003771?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,5,15]],"date-time":"2023-05-15T18:24:40Z","timestamp":1684175080000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1568786407003771"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2]]},"references-count":48,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2008,2]]}},"alternative-id":["S1568786407003771"],"URL":"https:\/\/doi.org\/10.1016\/j.dnarep.2007.10.007","relation":{},"ISSN":["1568-7864"],"issn-type":[{"value":"1568-7864","type":"print"}],"subject":[],"published":{"date-parts":[[2008,2]]}}}