{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T13:12:48Z","timestamp":1790860368820,"version":"4.1.0"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2008,1,9]],"date-time":"2008-01-09T00:00:00Z","timestamp":1199836800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2008,3]]},"DOI":"10.1038\/sj.ejhg.5201991","type":"journal-article","created":{"date-parts":[[2008,1,9]],"date-time":"2008-01-09T11:29:40Z","timestamp":1199878180000},"page":"320-327","source":"Crossref","is-referenced-by-count":42,"title":["Deletion of 5\u2032 sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome"],"prefix":"10.1038","volume":"16","author":[{"given":"Vincent","family":"Laugel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecile","family":"Dalloz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Stary","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Cormier-Daire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Desguerre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Renouil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Fourmaintraux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renier","family":"Velez-Cruz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Marc","family":"Egly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Sarasin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helene","family":"Dollfus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,1,9]]},"reference":[{"key":"BF5201991_CR1","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1002\/ajmg.1320420115","volume":"42","author":"MA Nance","year":"1992","unstructured":"Nance MA, Berry SA : Cockayne syndrome: review of 140 cases. Am J Med Genet 1992; 42: 68\u201384.","journal-title":"Am J Med Genet"},{"key":"BF5201991_CR2","doi-asserted-by":"publisher","first-page":"1101","DOI":"10.1016\/j.biochi.2003.09.010","volume":"85","author":"AR Lehmann","year":"2003","unstructured":"Lehmann AR : DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Biochimie 2003; 85: 1101\u20131111.","journal-title":"Biochimie"},{"key":"BF5201991_CR3","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1016\/j.tig.2006.06.006","volume":"22","author":"JP Laine","year":"2006","unstructured":"Laine JP, Egly JM : When transcription and repair meet: a complex system. Trends Genet 2006; 22: 430\u2013436.","journal-title":"Trends Genet"},{"key":"BF5201991_CR4","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1016\/j.dnarep.2006.12.001","volume":"6","author":"A Sarasin","year":"2007","unstructured":"Sarasin A, Stary A : New insights for understanding the transcription-coupled repair pathway. DNA Repair (Amst) 2007; 6: 265\u2013269.","journal-title":"DNA Repair (Amst)"},{"key":"BF5201991_CR5","doi-asserted-by":"publisher","first-page":"939","DOI":"10.1016\/0092-8674(92)90390-X","volume":"71","author":"C Troelstra","year":"1992","unstructured":"Troelstra C, van Gool A, de Wit J, Vermeulen W, Bootsma D, Hoeijmakers JH : ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell 1992; 71: 939\u2013953.","journal-title":"Cell"},{"key":"BF5201991_CR6","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1016\/0092-8674(95)90028-4","volume":"82","author":"KA Henning","year":"1995","unstructured":"Henning KA, Li L, Iyer N et al: The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell 1995; 82: 555\u2013564.","journal-title":"Cell"},{"key":"BF5201991_CR7","doi-asserted-by":"publisher","first-page":"1915","DOI":"10.1038\/sj.emboj.7601071","volume":"25","author":"L Proietti-De-Santis","year":"2006","unstructured":"Proietti-De-Santis L, Drane P, Egly JM : Cockayne syndrome B protein regulates the transcriptional program after UV irradiation. EMBO J 2006; 25: 1915\u20131923.","journal-title":"EMBO J"},{"key":"BF5201991_CR8","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1016\/j.dnarep.2005.06.017","volume":"5","author":"G Spivak","year":"2006","unstructured":"Spivak G, Hanawalt PC : Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. DNA Repair (Amst) 2006; 5: 13\u201322.","journal-title":"DNA Repair (Amst)"},{"key":"BF5201991_CR9","doi-asserted-by":"publisher","first-page":"4436","DOI":"10.1128\/MCB.16.8.4436","volume":"16","author":"MF van Oosterwijk","year":"1996","unstructured":"van Oosterwijk MF, Versteeg A, Filon R, van Zeeland AA, Mullenders LH : The sensitivity of Cockayne's syndrome cells to DNA-damaging agents is not due to defective transcription-coupled repair of active genes. Mol Cell Biol 1996; 16: 4436\u20134444.","journal-title":"Mol Cell Biol"},{"key":"BF5201991_CR10","doi-asserted-by":"publisher","first-page":"7643","DOI":"10.1128\/MCB.20.20.7643-7653.2000","volume":"20","author":"E Citterio","year":"2000","unstructured":"Citterio E, Van Den Boom V, Schnitzler G et al: ATP-dependent chromatin remodeling by the Cockayne syndrome B DNA repair-transcription-coupling factor. Mol Cell Biol 2000; 20: 7643\u20137653.","journal-title":"Mol Cell Biol"},{"key":"BF5201991_CR11","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1086\/301686","volume":"62","author":"DL Mallery","year":"1998","unstructured":"Mallery DL, Tanganelli B, Colella S et al: Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Am J Hum Genet 1998; 62: 77\u201385.","journal-title":"Am J Hum Genet"},{"key":"BF5201991_CR12","doi-asserted-by":"publisher","first-page":"15410","DOI":"10.1073\/pnas.0404587101","volume":"101","author":"K Horibata","year":"2004","unstructured":"Horibata K, Iwamoto Y, Kuraoka I et al: Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. Proc Natl Acad Sci USA 2004; 101: 15410\u201315415.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201991_CR13","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1111\/1523-1747.ep12482447","volume":"77","author":"Y Fujiwara","year":"1981","unstructured":"Fujiwara Y, Ichihashi M, Kano Y, Goto K, Shimizu K : A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation. J Invest Derm 1981; 77: 256\u2013263.","journal-title":"J Invest Derm"},{"key":"BF5201991_CR14","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1016\/0921-8777(94)90068-X","volume":"314","author":"T Itoh","year":"1994","unstructured":"Itoh T, Ono T, Yamaizumi M : A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome: siblings showing biochemical characteristics of Cockayne syndrome without typical clinical manifestations. Mutat Res 1994; 314: 233\u2013248.","journal-title":"Mutat Res"},{"key":"BF5201991_CR15","doi-asserted-by":"publisher","first-page":"935","DOI":"10.1093\/hmg\/8.5.935","volume":"8","author":"S Colella","year":"1999","unstructured":"Colella S, Nardo T, Mallery D et al: Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity. Hum Mol Genet 1999; 8: 935\u2013941.","journal-title":"Hum Mol Genet"},{"key":"BF5201991_CR16","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1111\/j.1365-2133.1992.tb14845.x","volume":"127","author":"A Sarasin","year":"1992","unstructured":"Sarasin A, Blanchet-Bardon C, Renault G, Lehmann A, Arlett C, Dumez Y : Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair. Br J Dermatol 1992; 127: 485\u2013491.","journal-title":"Br J Dermatol"},{"key":"BF5201991_CR17","doi-asserted-by":"publisher","first-page":"1077","DOI":"10.1038\/sj.gt.3300495","volume":"4","author":"L Zeng","year":"1997","unstructured":"Zeng L, Quilliet X, Chevallier-Lagente O, Eveno E, Sarasin A, Mezzina M : Retrovirus-mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C. Gene Therapy 1997; 4: 1077\u20131084.","journal-title":"Gene Therapy"},{"key":"BF5201991_CR18","first-page":"1267","volume":"56","author":"T Itoh","year":"1995","unstructured":"Itoh T, Fujiwara Y, Ono T, Yamaizumi M : UV(S) syndrome, a new general category of photosensitive disorder with defective DNA repair, is distinct from xeroderma pigmentosum variant and rodent complementation group I. Am J Hum Genet 1995; 56: 1267\u20131276.","journal-title":"Am J Hum Genet"},{"key":"BF5201991_CR19","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1136\/jmg.30.8.679","volume":"30","author":"AR Lehmann","year":"1993","unstructured":"Lehmann AR, Thompson AF, Harcourt SA, Stefanini M, Norris PG : Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation. J Med Genet 1993; 30: 679\u2013682.","journal-title":"J Med Genet"},{"key":"BF5201991_CR20","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1016\/j.mrfmmm.2005.03.017","volume":"577","author":"G Spivak","year":"2005","unstructured":"Spivak G : UV-sensitive syndrome. Mutat Res 2005; 577: 162\u2013169.","journal-title":"Mutat Res"},{"key":"BF5201991_CR21","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1016\/S1568-7864(02)00056-3","volume":"1","author":"G Spivak","year":"2002","unstructured":"Spivak G, Itoh T, Matsunaga T, Nikaido O, Hanawalt P, Yamaizumi M : Ultraviolet-sensitive syndrome cells are defective in transcription-coupled repair of cyclobutane pyrimidine dimers. DNA Repair (Amst) 2002; 1: 629\u2013643.","journal-title":"DNA Repair (Amst)"},{"key":"BF5201991_CR22","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1016\/S0092-8674(00)80223-8","volume":"89","author":"GT van der Horst","year":"1997","unstructured":"van der Horst GT, van Steeg H, Berg RJ et al: Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. Cell 1997; 89: 425\u2013435.","journal-title":"Cell"},{"key":"BF5201991_CR23","doi-asserted-by":"publisher","first-page":"13379","DOI":"10.1073\/pnas.231329598","volume":"98","author":"M Murai","year":"2001","unstructured":"Murai M, Enokido Y, Inamura N et al: Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes. Proc Natl Acad Sci USA 2001; 98: 13379\u201313384.","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201991.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201991","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201991.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:40:11Z","timestamp":1684374011000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201991"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1,9]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,3]]}},"alternative-id":["BF5201991"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201991","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,1,9]]}}}