{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T15:05:12Z","timestamp":1767971112734,"version":"3.49.0"},"reference-count":41,"publisher":"Oxford University Press (OUP)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Molecular Genetics"],"published-print":{"date-parts":[[2013,3,15]]},"DOI":"10.1093\/hmg\/dds508","type":"journal-article","created":{"date-parts":[[2012,12,8]],"date-time":"2012-12-08T07:43:31Z","timestamp":1354952611000},"page":"1061-1073","source":"Crossref","is-referenced-by-count":25,"title":["XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression"],"prefix":"10.1093","volume":"22","author":[{"given":"D.","family":"Orioli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Compe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Nardo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Mura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Giraudon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Botta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Arrigoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. A.","family":"Peverali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. M.","family":"Egly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Stefanini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2012,12,5]]},"reference":[{"issue":"10","key":"2_31369212","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1136\/jmg.2008.058743","volume":"45","year":"2008","journal-title":"Journal of Medical Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"issue":"R2","key":"3_35695826","doi-asserted-by":"publisher","first-page":"R224","DOI":"10.1093\/hmg\/ddp390","volume":"18","year":"2009","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"key":"4_44802870","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.dnarep.2009.10.005","volume":"9","year":"2010","journal-title":"DNA repair","ISSN":"https:\/\/id.crossref.org\/issn\/1568-7864","issn-type":"print"},{"issue":"6","key":"5_42566087","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/nrm3350","volume":"13","author":"Compe","year":"2012","journal-title":"Nature reviews. Molecular cell biology","ISSN":"https:\/\/id.crossref.org\/issn\/1471-0072","issn-type":"print"},{"issue":"5104","key":"6_10193080","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1126\/science.8465201","volume":"260","author":"Schaeffer","year":"1993","journal-title":"Science","ISSN":"https:\/\/id.crossref.org\/issn\/0036-8075","issn-type":"print"},{"issue":"10","key":"7_23309784","doi-asserted-by":"crossref","first-page":"2388","DOI":"10.1002\/j.1460-2075.1994.tb06522.x","volume":"13","author":"Schaeffer","year":"1994","journal-title":"The EMBO Journal","ISSN":"https:\/\/id.crossref.org\/issn\/0261-4189","issn-type":"print"},{"issue":"6425","key":"8_10220773","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1038\/363114a0","volume":"363","author":"Bootsma","year":"1993","journal-title":"Nature; Physical Science (London)","ISSN":"https:\/\/id.crossref.org\/issn\/1476-4687","issn-type":"print"},{"issue":"10","key":"9_16083710","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1016\/S0968-0004(00)89088-X","volume":"20","author":"Lehmann","year":"1995","journal-title":"Trends in biochemical sciences","ISSN":"https:\/\/id.crossref.org\/issn\/0167-7640","issn-type":"print"},{"issue":"16","key":"10_16862878","doi-asserted-by":"publisher","first-page":"8658","DOI":"10.1073\/pnas.94.16.8658","volume":"94","author":"Taylor","year":"1997","journal-title":"PNAS","ISSN":"https:\/\/id.crossref.org\/issn\/0027-8424","issn-type":"print"},{"issue":"3","key":"11_10537699","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1038\/81603","volume":"26","author":"Vermeulen","year":"2000","journal-title":"Nature genetics","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"issue":"23","key":"12_17295296","doi-asserted-by":"publisher","first-page":"2919","DOI":"10.1093\/hmg\/11.23.2919","volume":"11","author":"Botta","year":"2002","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"6","key":"13_17688093","doi-asserted-by":"publisher","first-page":"1635","DOI":"10.1016\/S1097-2765(03)00182-5","volume":"11","author":"Dubaele","year":"2003","journal-title":"Molecular cell","ISSN":"https:\/\/id.crossref.org\/issn\/1097-2765","issn-type":"print"},{"issue":"1","key":"14_17008363","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1016\/S0092-8674(02)00692-X","volume":"109","author":"Keriel","year":"2002","journal-title":"Cell","ISSN":"https:\/\/id.crossref.org\/issn\/0092-8674","issn-type":"print"},{"issue":"14","key":"15_18958954","doi-asserted-by":"publisher","first-page":"6065","DOI":"10.1128\/MCB.25.14.6065-6076.2005","volume":"25","author":"Compe","year":"2005","journal-title":"Molecular and Cellular Biology","ISSN":"https:\/\/id.crossref.org\/issn\/0270-7306","issn-type":"print"},{"issue":"11","key":"16_29538778","doi-asserted-by":"publisher","first-page":"1414","DOI":"10.1038\/nn1990","volume":"10","author":"Arganda","year":"2007","journal-title":"Nature neuroscience","ISSN":"https:\/\/id.crossref.org\/issn\/1097-6256","issn-type":"print"},{"issue":"2","key":"17_13963038","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1007\/BF00282072","volume":"74","author":"Stefanini","year":"1986","journal-title":"Human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0340-6717","issn-type":"print"},{"issue":"7","key":"18_6064681","doi-asserted-by":"publisher","first-page":"981","DOI":"10.1016\/S1097-2765(00)80098-2","volume":"1","author":"de Boer","year":"1998","journal-title":"Molecular cell","ISSN":"https:\/\/id.crossref.org\/issn\/1097-2765","issn-type":"print"},{"issue":"3","key":"19_11432139","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1046\/j.1365-2249.2001.01625.x","volume":"126","author":"Racioppi","year":"2001","journal-title":"Clinical and experimental immunology","ISSN":"https:\/\/id.crossref.org\/issn\/0009-9104","issn-type":"print"},{"issue":"24","key":"20_11425154","doi-asserted-by":"publisher","first-page":"2797","DOI":"10.1093\/hmg\/10.24.2797","volume":"10","author":"Viprakasit","year":"2001","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"11","key":"21_19529894","doi-asserted-by":"publisher","first-page":"1325","DOI":"10.1016\/j.dnarep.2005.07.011","volume":"4","author":"Backendorf","year":"2005","journal-title":"DNA repair","ISSN":"https:\/\/id.crossref.org\/issn\/1568-7864","issn-type":"print"},{"issue":"6","key":"22_5134738","doi-asserted-by":"crossref","first-page":"3494","DOI":"10.1016\/S0021-9258(18)94093-7","volume":"264","author":"Hatamochi","year":"1989","journal-title":"Journal of Biological Chemistry","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"issue":"3","key":"23_11061295","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1038\/85864","volume":"27","author":"Vermeulen","year":"2001","journal-title":"Nature genetics","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"issue":"36","key":"24_19576044","doi-asserted-by":"publisher","first-page":"31368","DOI":"10.1074\/jbc.M501546200","volume":"280","year":"2005","journal-title":"Journal of Biological Chemistry","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"issue":"0","key":"25_32169689","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1101\/sqb.1998.63.105","volume":"63","author":"COIN","year":"1998","journal-title":"Cold Spring Harbor Symposia on Quantitative Biology","ISSN":"https:\/\/id.crossref.org\/issn\/0091-7451","issn-type":"print"},{"issue":"7","key":"26_23310912","doi-asserted-by":"crossref","first-page":"1666","DOI":"10.1002\/j.1460-2075.1996.tb00512.x","volume":"15","author":"Holstege","year":"1996","journal-title":"The EMBO Journal","ISSN":"https:\/\/id.crossref.org\/issn\/0261-4189","issn-type":"print"},{"issue":"1","key":"27_10437011","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/S1097-2765(00)00014-9","volume":"6","author":"Chen","year":"2000","journal-title":"Molecular cell","ISSN":"https:\/\/id.crossref.org\/issn\/1097-2765","issn-type":"print"},{"issue":"6","key":"28_5882999","doi-asserted-by":"publisher","first-page":"3408","DOI":"10.1074\/jbc.273.6.3408","volume":"273","author":"Batt","year":"1998","journal-title":"Journal of Biological Chemistry","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"issue":"9","key":"29_37155129","doi-asserted-by":"publisher","first-page":"862","DOI":"10.1101\/gad.1909210","volume":"24","author":"Zhao","year":"2010","journal-title":"Genes & Development","ISSN":"https:\/\/id.crossref.org\/issn\/0890-9369","issn-type":"print"},{"issue":"6","key":"30_37683458","doi-asserted-by":"publisher","first-page":"981","DOI":"10.1093\/hmg\/7.6.981","volume":"7","year":"1998","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"4","key":"31_29831655","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1002\/ana.21213","volume":"62","author":"Baker","year":"2007","journal-title":"Annals of neurology","ISSN":"https:\/\/id.crossref.org\/issn\/0364-5134","issn-type":"print"},{"issue":"4","key":"32_6171247","doi-asserted-by":"publisher","first-page":"1036","DOI":"10.1086\/302063","volume":"63","author":"Botta","year":"1998","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"7","key":"33_6552037","first-page":"1974","volume":"60","author":"Chavanne","year":"2000","journal-title":"Cancer Research","ISSN":"https:\/\/id.crossref.org\/issn\/0008-5472","issn-type":"print"},{"issue":"5","key":"34_21724287","doi-asserted-by":"publisher","first-page":"2391","DOI":"10.1091\/mbc.E05-08-0753","volume":"17","year":"2006","journal-title":"Molecular Biology of the Cell","ISSN":"https:\/\/id.crossref.org\/issn\/1059-1524","issn-type":"print"},{"issue":"13","key":"35_17680591","doi-asserted-by":"publisher","first-page":"1507","DOI":"10.1093\/hmg\/ddg174","volume":"12","author":"Rapic-Otrin","year":"2003","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"9","key":"36_22089418","doi-asserted-by":"publisher","first-page":"1915","DOI":"10.1038\/sj.emboj.7601071","volume":"25","author":"Proietti-De-Santis","year":"2006","journal-title":"The EMBO Journal","ISSN":"https:\/\/id.crossref.org\/issn\/0261-4189","issn-type":"print"},{"issue":"1","key":"37_10730759","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/S1097-2765(00)80177-X","volume":"3","author":"Tirode","year":"1999","journal-title":"Molecular cell","ISSN":"https:\/\/id.crossref.org\/issn\/1097-2765","issn-type":"print"},{"issue":"13","key":"38_18924036","doi-asserted-by":"publisher","first-page":"2933","DOI":"10.1093\/bioinformatics\/bti473","volume":"21","year":"2005","journal-title":"Bioinformatics","ISSN":"https:\/\/id.crossref.org\/issn\/1367-4803","issn-type":"print"},{"issue":"2","key":"39_9759773","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/0921-8777(92)90073-C","volume":"273","author":"Stefanini","year":"1992","journal-title":"Mutation Research","ISSN":"https:\/\/id.crossref.org\/issn\/0027-5107","issn-type":"print"},{"issue":"6","key":"40_10257574","doi-asserted-by":"publisher","first-page":"1101","DOI":"10.1093\/carcin\/14.6.1101","volume":"14","author":"Stefanini","year":"1993","journal-title":"Carcinogenesis","ISSN":"https:\/\/id.crossref.org\/issn\/0143-3334","issn-type":"print"},{"issue":"3","key":"41_32938895","doi-asserted-by":"publisher","first-page":"438","DOI":"10.1002\/humu.20912","volume":"30","author":"Botta","year":"2009","journal-title":"Human mutation","ISSN":"https:\/\/id.crossref.org\/issn\/1059-7794","issn-type":"print"},{"issue":"2","key":"42_16162500","first-page":"263","volume":"58","author":"Takayama","year":"1996","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/22\/6\/1061\/1563823\/dds508.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,2]],"date-time":"2022-02-02T20:40:20Z","timestamp":1643834420000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/dds508"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12,5]]},"references-count":41,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2013,2,21]]},"published-print":{"date-parts":[[2013,3,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/dds508","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,12,5]]}}}