{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T05:00:42Z","timestamp":1773205242608,"version":"3.50.1"},"reference-count":46,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2020,1]]},"DOI":"10.1016\/j.ejmg.2019.01.002","type":"journal-article","created":{"date-parts":[[2019,1,8]],"date-time":"2019-01-08T23:02:28Z","timestamp":1546988548000},"page":"103612","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":15,"title":["Renal disease in Cockayne syndrome"],"prefix":"10.1016","volume":"63","author":[{"given":"Am\u00e9lie","family":"Stern-Delfils","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie-Aude","family":"Spitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myriam","family":"Durand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cathy","family":"Obringer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nad\u00e8ge","family":"Calmels","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00e9r\u00f4me","family":"Olagne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Komala","family":"Pillay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Fieggen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Laugel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ariane","family":"Zaloszyc","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2019.01.002_bib1","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1161\/01.HYP.0000150783.79172.bb","article-title":"Childhood uric acid predicts adult blood pressure: the Bogalusa Heart Study","volume":"45","author":"Alper","year":"2005","journal-title":"Hypertension"},{"key":"10.1016\/j.ejmg.2019.01.002_bib2","first-page":"253","article-title":"Renal involvement in 2 siblings with Cockayne syndrome","volume":"11","author":"Ben Chehida","year":"2017","journal-title":"Iran J. Kidney Dis."},{"key":"10.1016\/j.ejmg.2019.01.002_bib3","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/1750-1172-8-9","article-title":"A possible cranio-oro-facial phenotype in Cockayne syndrome","volume":"8","author":"Bloch-Zupan","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ejmg.2019.01.002_bib4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s004310050001","article-title":"Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature","volume":"159","author":"Boerkoel","year":"2000","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ejmg.2019.01.002_bib5","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/s13023-016-0408-0","article-title":"Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing","volume":"11","author":"Calmels","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ejmg.2019.01.002_bib6","doi-asserted-by":"crossref","first-page":"E2910","DOI":"10.1073\/pnas.1422264112","article-title":"Reversal of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndrome","volume":"112","author":"Chatre","year":"2015","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ejmg.2019.01.002_bib7","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1136\/adc.21.105.52","article-title":"Dwarfism with retinal atrophy and deafness","volume":"21","author":"Cockayne","year":"1946","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.ejmg.2019.01.002_bib8","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1136\/jmg.2008.058743","article-title":"Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations","volume":"45","author":"Faghri","year":"2008","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2019.01.002_bib9","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1007\/s00467-013-2549-x","article-title":"Uric acid and the kidney","volume":"29","author":"Fathallah-Shaykh","year":"2014","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ejmg.2019.01.002_bib10","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1097\/MNH.0b013e328330d9d0","article-title":"Uric acid: a novel mediator and marker of risk in chronic kidney disease?","volume":"18","author":"Feig","year":"2009","journal-title":"Curr. Opin. Nephrol. Hypertens."},{"key":"10.1016\/j.ejmg.2019.01.002_bib11","doi-asserted-by":"crossref","first-page":"2075","DOI":"10.1002\/ajmg.a.32995","article-title":"A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome","volume":"149A","author":"Forsythe","year":"2009","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2019.01.002_bib12","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1111\/j.1440-1827.2006.02029.x","article-title":"Cockayne syndrome with recurrent acute tubulointerstitial nephritis","volume":"56","author":"Funaki","year":"2006","journal-title":"Pathol. Int."},{"key":"10.1016\/j.ejmg.2019.01.002_bib13","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1016\/j.clinph.2014.10.014","article-title":"Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome","volume":"126","author":"Gitiaux","year":"2015","journal-title":"Clin. Neurophysiol."},{"key":"10.1016\/j.ejmg.2019.01.002_bib14","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1080\/03014469300002832","article-title":"Relation between serum uric acid and blood pressure in adolescents","volume":"20","author":"Goldstein","year":"1993","journal-title":"Ann. Hum. Biol."},{"key":"10.1016\/j.ejmg.2019.01.002_bib15","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/0092-8674(95)90028-4","article-title":"The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH","volume":"82","author":"Henning","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.ejmg.2019.01.002_bib16","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1542\/peds.64.6.929","article-title":"The Cockayne syndrome: an evaluation of hypertension and studies of renal pathology","volume":"64","author":"Higginbottom","year":"1979","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejmg.2019.01.002_bib17","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1007\/BF00862599","article-title":"Renal lesions in Cockayne syndrome","volume":"2","author":"Hirooka","year":"1988","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ejmg.2019.01.002_bib18","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"},{"key":"10.1016\/j.ejmg.2019.01.002_bib19","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1620\/tjem.239.231","article-title":"Elevated urinary levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese child of xeroderma pigmentosum\/cockayne syndrome complex with infantile onset of nephrotic syndrome","volume":"239","author":"Kondo","year":"2016","journal-title":"Tohoku J. Exp. Med."},{"key":"10.1016\/j.ejmg.2019.01.002_bib20","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1111\/ped.12635","article-title":"Nationwide survey of Cockayne syndrome in Japan: incidence, clinical course and prognosis","volume":"57","author":"Kubota","year":"2015","journal-title":"Pediatr. Int."},{"key":"10.1016\/j.ejmg.2019.01.002_bib21","series-title":"GeneReviews((R)) (Seattle (WA))","article-title":"Cockayne syndrome","author":"Laugel","year":"1993"},{"key":"10.1016\/j.ejmg.2019.01.002_bib22","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.mad.2013.02.006","article-title":"Cockayne syndrome: the expanding clinical and mutational spectrum","volume":"134","author":"Laugel","year":"2013","journal-title":"Mech. Ageing Dev."},{"key":"10.1016\/j.ejmg.2019.01.002_bib23","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1002\/humu.21154","article-title":"Mutation update for the CSB\/ERCC6 and CSA\/ERCC8 genes involved in Cockayne syndrome","volume":"31","author":"Laugel","year":"2010","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2019.01.002_bib24","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1136\/jmg.2007.057141","article-title":"Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation","volume":"45","author":"Laugel","year":"2008","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2019.01.002_bib25","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0180926","article-title":"Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia","volume":"12","author":"Lipska-Zietkiewicz","year":"2017","journal-title":"PLoS One"},{"key":"10.1016\/j.ejmg.2019.01.002_bib26","first-page":"1473","article-title":"Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum","volume":"42","author":"Mayne","year":"1982","journal-title":"Cancer Res."},{"key":"10.1016\/j.ejmg.2019.01.002_bib27","series-title":"GeneReviews((R)) (Seattle (WA))","article-title":"Schimke immunoosseous dysplasia","author":"Morimoto","year":"1993"},{"key":"10.1016\/j.ejmg.2019.01.002_bib28","first-page":"311","article-title":"Clinical examination of renal function in Cockayne syndrome","volume":"46","author":"Motojima","year":"2014","journal-title":"No To Hattatsu"},{"key":"10.1016\/j.ejmg.2019.01.002_bib29","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1002\/ajmg.1320420115","article-title":"Cockayne syndrome: review of 140 cases","volume":"42","author":"Nance","year":"1992","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2019.01.002_bib30","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1002\/ajmg.a.33933","article-title":"A comprehensive description of the severity groups in Cockayne syndrome","volume":"155A","author":"Natale","year":"2011","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2019.01.002_bib31","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1542\/peds.114.S2.555","article-title":"The fourth report on the diagnosis, evaluation, and treatment of high blood pressure in children and adolescents","volume":"114","author":"National High Blood Pressure Education Program Working Group on High Blood Pressure in, Children, and Adolescents","year":"2004","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejmg.2019.01.002_bib32","first-page":"S1","article-title":"K\/DOQI clinical practice guidelines for chronic kidney disease: evaluation, classification, and stratification","volume":"39","author":"National Kidney, Foundation","year":"2002","journal-title":"Am. J. Kidney Dis."},{"key":"10.1016\/j.ejmg.2019.01.002_bib33","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1620\/tjem.89.151","article-title":"Renal lesions in Cockayne's syndrome","volume":"89","author":"Ohno","year":"1966","journal-title":"Tohoku J. Exp. Med."},{"key":"10.1016\/j.ejmg.2019.01.002_bib34","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1177\/08830738060210110101","article-title":"Cockayne syndrome in adults: review with clinical and pathologic study of a new case","volume":"21","author":"Rapin","year":"2006","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.ejmg.2019.01.002_bib35","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1007\/s004670050170","article-title":"Nephrotic syndrome, hypertension, and adrenal failure in atypical Cockayne syndrome","volume":"10","author":"Reiss","year":"1996","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ejmg.2019.01.002_bib36","first-page":"206","article-title":"Renal lesions in Cockayne's syndrome","volume":"29","author":"Sato","year":"1988","journal-title":"Clin. Nephrol."},{"key":"10.1016\/j.ejmg.2019.01.002_bib37","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1111\/j.1740-8709.2005.00033.x","article-title":"Association between chronic undernutrition and hypertension","volume":"1","author":"Sawaya","year":"2005","journal-title":"Matern. Child Nutr."},{"key":"10.1016\/j.ejmg.2019.01.002_bib38","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.mad.2013.02.007","article-title":"Mitochondrial deficiency in Cockayne syndrome","volume":"134","author":"Scheibye-Knudsen","year":"2013","journal-title":"Mech. Ageing Dev."},{"key":"10.1016\/j.ejmg.2019.01.002_bib39","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1542\/peds.60.2.135","article-title":"Cockayne syndrome: a cellular sensitivity to ultraviolet light","volume":"60","author":"Schmickel","year":"1977","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejmg.2019.01.002_bib40","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1681\/ASN.2008030287","article-title":"New equations to estimate GFR in children with CKD","volume":"20","author":"Schwartz","year":"2009","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ejmg.2019.01.002_bib41","doi-asserted-by":"crossref","first-page":"c61","DOI":"10.1159\/000078402","article-title":"Malnutrition is associated with increased blood pressure in childhood","volume":"97","author":"Sesso","year":"2004","journal-title":"Nephron Clin. Pract."},{"key":"10.1016\/j.ejmg.2019.01.002_bib42","doi-asserted-by":"crossref","first-page":"6995","DOI":"10.1007\/s11033-012-1529-8","article-title":"DNA repair XRCC1 Arg399Gln polymorphism is associated with the risk of development of end-stage renal disease","volume":"39","author":"Trabulus","year":"2012","journal-title":"Mol. Biol. Rep."},{"key":"10.1016\/j.ejmg.2019.01.002_bib43","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1016\/0092-8674(92)90390-X","article-title":"ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes","volume":"71","author":"Troelstra","year":"1992","journal-title":"Cell"},{"key":"10.1016\/j.ejmg.2019.01.002_bib44","doi-asserted-by":"crossref","first-page":"4155","DOI":"10.1093\/emboj\/16.14.4155","article-title":"Cockayne syndrome: defective repair of transcription?","volume":"16","author":"van Gool","year":"1997","journal-title":"EMBO J."},{"key":"10.1016\/j.ejmg.2019.01.002_bib45","series-title":"French Recommendations from VIDAL in Uric Acid, Analysis of Medical Biology: Usual Values","author":"Vidal","year":"2018"},{"key":"10.1016\/j.ejmg.2019.01.002_bib46","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1038\/gim.2015.110","article-title":"The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care","volume":"18","author":"Wilson","year":"2016","journal-title":"Genet. Med."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721218305524?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721218305524?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:48:29Z","timestamp":1761709709000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721218305524"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1]]},"references-count":46,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["S1769721218305524"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2019.01.002","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2020,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Renal disease in Cockayne syndrome","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2019.01.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"103612"}}