{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T13:37:09Z","timestamp":1770903429295,"version":"3.50.1"},"reference-count":35,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2001,4,1]]},"DOI":"10.1136\/jmg.38.4.244","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:34:46Z","timestamp":1027751686000},"page":"244-249","source":"Crossref","is-referenced-by-count":56,"title":["Interaction of coding region mutations and the Gilbert-type promoter abnormality of the <i>UGT1A1<\/i> gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus"],"prefix":"10.1136","volume":"38","author":[{"given":"AJIT","family":"KADAKOL","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"BALJIT S","family":"SAPPAL","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"SIDDHARTHA S","family":"GHOSH","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MARK","family":"LOWENHEIM","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"ABHIJIT","family":"CHOWDHURY","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"SUJIT","family":"CHOWDHURY","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"AMAL","family":"SANTRA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"IRWIN M","family":"ARIAS","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JAYANTA ROY","family":"CHOWDHURY","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"NAMITA ROY","family":"CHOWDHURY","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2001,4,1]]},"reference":[{"key":"2025101714020942000_38.4.244.1","first-page":"169","article-title":"Congenital familial non-hemolytic jaundice with kernicterus.","volume":"10","author":"Crigler","year":"1952","journal-title":"Pediatrics"},{"key":"2025101714020942000_38.4.244.2","doi-asserted-by":"crossref","first-page":"2233","DOI":"10.1172\/JCI104682","article-title":"Chronic unconjugated hyperbilirubinemia without overt signs of hemolysis in adolescents and adults.","volume":"41","author":"Arias","year":"1962","journal-title":"J Clin Invest"},{"key":"2025101714020942000_38.4.244.3","first-page":"241","article-title":"La cholemae simple familiale.","volume":"21","author":"Gilbert","year":"1901","journal-title":"Semin Med"},{"key":"2025101714020942000_38.4.244.4","unstructured":"Jansen PLM Bosma PJ Roy Chowdhury J (1995) Molecular biology of bilirubin metabolism. Boyer JL, Ockner RK, eds Progress in liver diseases. (WB Saunders, Philadelphia), pp 125\u2013150."},{"key":"2025101714020942000_38.4.244.5","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1542\/peds.23.5.903","article-title":"Glucuronic acid conjugation by patients with familial non-hemolytic jaundice and their relatives.","volume":"23","author":"Childs","year":"1959","journal-title":"Pediatrics"},{"key":"2025101714020942000_38.4.244.6","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1016\/S0016-5085(79)80188-2","article-title":"Crigler-Najjar syndrome (type I) in an adult male.","volume":"76","author":"Wolkoff","year":"1979","journal-title":"Gastroenterology"},{"key":"2025101714020942000_38.4.244.7","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1203\/00006450-197405000-00006","article-title":"Crigler-Najjar syndrome: an unusual course with development of neurologic damage at age eighteen.","volume":"8","author":"Blaschke","year":"1974","journal-title":"Pediatr Res"},{"key":"2025101714020942000_38.4.244.8","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199805143382004"},{"key":"2025101714020942000_38.4.244.9","doi-asserted-by":"publisher","DOI":"10.1542\/peds.102.3.647"},{"key":"2025101714020942000_38.4.244.10","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1097\/00007890-199511270-00006","article-title":"Orthotopic liver transplantation for Crigler-Najjar type I disease in six children.","volume":"60","author":"Sokal","year":"1995","journal-title":"Transplantation"},{"key":"2025101714020942000_38.4.244.11","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1002\/hep.510240205","article-title":"Current therapy for Crigler-Najjar syndrome type 1: report of a world registry.","volume":"24","author":"Van der Veere","year":"1996","journal-title":"Hepatology"},{"key":"2025101714020942000_38.4.244.12","doi-asserted-by":"crossref","first-page":"3257","DOI":"10.1016\/S0021-9258(19)50724-4","article-title":"A novel complex locus, UGT1, encodes human bilirubin, phenol and other UDP-glucuronosyltransferase isoenzymes with identical carboxytermini.","volume":"267","author":"Ritter","year":"1992","journal-title":"J Biol Chem"},{"key":"2025101714020942000_38.4.244.13","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1159\/000133513","article-title":"Assignment of the human UDP-glucuronosyltransferase gene (UGT1A1) to the chromosome region 2q37.","volume":"63","author":"Van Es","year":"1993","journal-title":"Cytogenet Cell Genet"},{"key":"2025101714020942000_38.4.244.14","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1002\/hep.1840150531","article-title":"Sequence of exons and flanking regions of human bilirubin UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, type I.","volume":"15","author":"Bosma","year":"1992","journal-title":"Hepatology"},{"key":"2025101714020942000_38.4.244.15","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200010)16:4<297::AID-HUMU2>3.0.CO;2-Z"},{"key":"2025101714020942000_38.4.244.16","doi-asserted-by":"publisher","DOI":"10.1086\/301756"},{"key":"2025101714020942000_38.4.244.17","doi-asserted-by":"crossref","first-page":"2385","DOI":"10.1172\/JCI117604","article-title":"Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.","volume":"94","author":"Seppen","year":"1994","journal-title":"J Clin Invest"},{"key":"2025101714020942000_38.4.244.18","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199511023331802"},{"key":"2025101714020942000_38.4.244.19","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.14.8170"},{"key":"2025101714020942000_38.4.244.20","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(96)91273-8"},{"key":"2025101714020942000_38.4.244.21","first-page":"21","article-title":"Genotype analysis and correlation phenotype in children.","volume":"63","author":"Tsezou","year":"2000","journal-title":"Pediatriki"},{"key":"2025101714020942000_38.4.244.22","first-page":"194","article-title":"TATA-box mutant in the promoter of the uridine diphosphate glucuronosyltransferase gene in Italian patients with Gilbert's syndrome.","volume":"30","author":"Sampietro","year":"1998","journal-title":"Ital J Gastroenterol Hepatol"},{"key":"2025101714020942000_38.4.244.23","first-page":"221","article-title":"The assessment of red cell survival in idiopathic unconjugated hyperbilirubinaemia (Gilbert's syndrome) by the use of radioactive diisopropylfluorophosphate and chromium.","volume":"16","author":"Powell","year":"1967","journal-title":"Aust Ann Med"},{"key":"2025101714020942000_38.4.244.24","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.7.1183"},{"key":"2025101714020942000_38.4.244.25","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)90702-5"},{"key":"2025101714020942000_38.4.244.26","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1007\/s100380050100","article-title":"Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene.","volume":"44","author":"Akaba","year":"1999","journal-title":"Jpn J Hum Genet"},{"key":"2025101714020942000_38.4.244.27","doi-asserted-by":"publisher","DOI":"10.1136\/gut.14.1.46"},{"key":"2025101714020942000_38.4.244.28","doi-asserted-by":"publisher","DOI":"10.1053\/gast.1997.v112.pm9178703"},{"key":"2025101714020942000_38.4.244.29","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/S0925-4439(98)00030-1","article-title":"Coding and a TATA box mutation at the bilirubin UDP-glucuronosyl transferase gene cause Crigler-Najjar syndrome type 1 disease.","volume":"1407","author":"Ciotti","year":"1998","journal-title":"Biochim Biophys Acta"},{"key":"2025101714020942000_38.4.244.30","doi-asserted-by":"publisher","DOI":"10.1007\/s100380050050"},{"key":"2025101714020942000_38.4.244.31","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.12.5463"},{"key":"2025101714020942000_38.4.244.32","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(76)90527-3"},{"key":"2025101714020942000_38.4.244.33","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1002\/hep.1840010610","article-title":"Bilirubin monoglucuronide and diglucuronide formation by human liver in vitro: Assay by high pressure liquid chromatography.","volume":"1","author":"Roy Chowdhury","year":"1981","journal-title":"Hepatology"},{"key":"2025101714020942000_38.4.244.34","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70408-1"},{"key":"2025101714020942000_38.4.244.35","doi-asserted-by":"crossref","first-page":"1494","DOI":"10.1016\/S0140-6736(95)92514-7","article-title":"Predicted homozygous missense mutation in Gilbert's syndrome.","volume":"346","author":"Soeda","year":"1995","journal-title":"Lancet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.38.4.244","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:02:19Z","timestamp":1760734939000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.38.4.244"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,4,1]]},"references-count":35,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2001,4,1]]},"published-print":{"date-parts":[[2001,4,1]]}},"alternative-id":["10.1136\/jmg.38.4.244"],"URL":"https:\/\/doi.org\/10.1136\/jmg.38.4.244","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,4,1]]}}}