{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T19:59:54Z","timestamp":1791489594438,"version":"4.3.4"},"reference-count":31,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T00:00:00Z","timestamp":1721865600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82000543"],"award-info":[{"award-number":["82000543"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82101951"],"award-info":[{"award-number":["82101951"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009601","name":"Beijing Municipal Administration of Hospitals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009601","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016126","name":"Beijing Hospital Authority","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016126","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100015850","name":"Digestive Medical Coordinated Development Center of Beijing Hospitals Authority","doi-asserted-by":"publisher","award":["XXZ05"],"award-info":[{"award-number":["XXZ05"]}],"id":[{"id":"10.13039\/501100015850","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100015850","name":"Digestive Medical Coordinated Development Center of Beijing Hospitals Authority","doi-asserted-by":"publisher","award":["XXX0101"],"award-info":[{"award-number":["XXX0101"]}],"id":[{"id":"10.13039\/501100015850","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100015850","name":"Digestive Medical Coordinated Development Center of Beijing Hospitals Authority","doi-asserted-by":"publisher","award":["XXT06"],"award-info":[{"award-number":["XXT06"]}],"id":[{"id":"10.13039\/501100015850","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2024,10]]},"DOI":"10.1016\/j.ejmg.2024.104962","type":"journal-article","created":{"date-parts":[[2024,7,26]],"date-time":"2024-07-26T19:46:24Z","timestamp":1722023184000},"page":"104962","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"special_numbering":"C","title":["Analysis of UGT1A1 genotype-phenotype correlation in Chinese patients with gilbert and crigler-Najjar II syndrome"],"prefix":"10.1016","volume":"71","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3220-6041","authenticated-orcid":false,"given":"Lina","family":"Wu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenkun","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanmeng","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuemei","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoming","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojuan","family":"Ou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2024.104962_bib1","article-title":"UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: a retrospective analysis and quantitative correlation","volume":"97","author":"Abuduxikuer","year":"2018","journal-title":"Medicine (Baltim.)"},{"key":"10.1016\/j.ejmg.2024.104962_bib2","doi-asserted-by":"crossref","first-page":"328","DOI":"10.3389\/fped.2019.00328","article-title":"Profiling of UGT1A1 * 6, UGT1A1 * 60, UGT1A1 * 93, and UGT1A1 * 28 polymorphisms in Indonesian neonates with hyperbilirubinemia using multiplex PCR sequencing","volume":"7","author":"Amandito","year":"2019","journal-title":"Front Pediatr"},{"key":"10.1016\/j.ejmg.2024.104962_bib3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fgene.2019.00001","article-title":"Targeted next generation sequencing revealed a novel homozygous loss-of-function mutation in ILDR1 gene causes autosomal recessive nonsyndromic sensorineural hearing loss in a Chinese family","volume":"10","author":"An","year":"2019","journal-title":"Front. Genet."},{"key":"10.1016\/j.ejmg.2024.104962_bib4","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1006\/bbrc.1993.2610","article-title":"Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II","volume":"197","author":"Aono","year":"1993","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ejmg.2024.104962_bib5","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1111\/exd.12610","article-title":"Next-generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma","volume":"24","author":"Banerjee","year":"2015","journal-title":"Exp. Dermatol."},{"key":"10.1016\/j.ejmg.2024.104962_bib6","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1111\/jgh.14853","article-title":"Disease burden of Crigler-Najjar syndrome: systematic review and future perspectives","volume":"35","author":"Dhawan","year":"2020","journal-title":"J. Gastroenterol. Hepatol."},{"key":"10.1016\/j.ejmg.2024.104962_bib7","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1053\/j.gastro.2014.03.047","article-title":"Inherited disorders of bilirubin transport and conjugation: new insights into molecular mechanisms and consequences","volume":"146","author":"Erlinger","year":"2014","journal-title":"Gastroenterology"},{"key":"10.1016\/j.ejmg.2024.104962_bib8","doi-asserted-by":"crossref","first-page":"1094","DOI":"10.1111\/liv.13351","article-title":"The molecular basis of jaundice: an old symptom revisited","volume":"37","author":"Gazzin","year":"2017","journal-title":"Liver Int."},{"key":"10.1016\/j.ejmg.2024.104962_bib9","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.1958","article-title":"Genetic testing of UGT1A1 in the diagnosis of Gilbert syndrome: the discovery of seven novel variants in the Chinese population","volume":"10","author":"Gu","year":"2022","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.ejmg.2024.104962_bib10","doi-asserted-by":"crossref","first-page":"1627","DOI":"10.1002\/hep.32437","article-title":"Cholestatic liver diseases of genetic etiology: advances and controversies","volume":"75","author":"Ibrahim","year":"2022","journal-title":"Hepatology"},{"key":"10.1016\/j.ejmg.2024.104962_bib11","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1124\/dmd.104.001800","article-title":"Racial variability in haplotype frequencies of UGT1A1 and glucuronidation activity of a novel single nucleotide polymorphism 686C> T (P229L) found in an African-American","volume":"33","author":"Kaniwa","year":"2005","journal-title":"Drug Metab. Dispos."},{"key":"10.1016\/j.ejmg.2024.104962_bib12","doi-asserted-by":"crossref","DOI":"10.3389\/fphar.2021.586973","article-title":"UGT1A1 rs4148323 A allele is associated with increased 2-hydroxy atorvastatin formation and higher death risk in Chinese patients with coronary artery disease","volume":"12","author":"Lei","year":"2021","journal-title":"Front. Pharmacol."},{"key":"10.1016\/j.ejmg.2024.104962_bib13","first-page":"1","article-title":"UGT1A1The relationship between gene & various diseases and prevention strategies","author":"Liu","year":"2021","journal-title":"Drug Metab. Rev."},{"key":"10.1016\/j.ejmg.2024.104962_bib14","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1111\/j.1442-200X.2011.03337.x","article-title":"Association of neonatal hyperbilirubinemia with uridine diphosphate-glucuronosyltransferase 1A1 gene polymorphisms: meta-analysis","volume":"53","author":"Long","year":"2011","journal-title":"Pediatr. Int."},{"key":"10.1016\/j.ejmg.2024.104962_bib15","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/j.apsb.2018.09.005","article-title":"Recent progress and challenges in screening and characterization of UGT1A1 inhibitors","volume":"9","author":"Lv","year":"2019","journal-title":"Acta Pharm. Sin. B"},{"key":"10.1016\/j.ejmg.2024.104962_bib16","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1111\/jgh.13071","article-title":"Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome","volume":"31","author":"Maruo","year":"2016","journal-title":"J. Gastroenterol. Hepatol."},{"key":"10.1016\/j.ejmg.2024.104962_bib17","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.jpeds.2021.12.038","article-title":"Clinical and genetic etiologies of neonatal unconjugated hyperbilirubinemia in the China neonatal genomes Project","volume":"243","author":"Mei","year":"2022","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ejmg.2024.104962_bib18","doi-asserted-by":"crossref","DOI":"10.1155\/2019\/6272174","article-title":"Analysis of the UGT1A1 genotype in hyperbilirubinemia patients: differences in allele frequency and distribution","volume":"2019","author":"Mi","year":"2019","journal-title":"BioMed Res. Int."},{"key":"10.1016\/j.ejmg.2024.104962_bib19","doi-asserted-by":"crossref","first-page":"2000","DOI":"10.3390\/antiox10122000","article-title":"Association of serum bilirubin and functional variants of heme oxygenase 1 and bilirubin UDP-glucuronosyl transferase genes in Czech adult patients with non-alcoholic fatty liver disease","volume":"10","author":"Petrt\u00fdl","year":"2021","journal-title":"Antioxidants"},{"key":"10.1016\/j.ejmg.2024.104962_bib20","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"ACMG laboratory quality assurance committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2024.104962_bib21","first-page":"591","article-title":"Establishment and application of NGS method for inherited disorders of hyperbilirubinemia and Cholestasis","volume":"12","author":"Song","year":"2022","journal-title":"Curr. Biotechnol."},{"key":"10.1016\/j.ejmg.2024.104962_bib22","doi-asserted-by":"crossref","first-page":"1923","DOI":"10.1002\/hep.30959","article-title":"Crigler-najjar syndrome type 1: pathophysiology, natural history, and therapeutic frontier","volume":"71","author":"Strauss","year":"2020","journal-title":"Hepatology"},{"key":"10.1016\/j.ejmg.2024.104962_bib23","article-title":"Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II","volume":"96","author":"Sun","year":"2017","journal-title":"Medicine (Baltim.)"},{"key":"10.1016\/j.ejmg.2024.104962_bib24","doi-asserted-by":"crossref","DOI":"10.1016\/j.fct.2022.113246","article-title":"Irinotecan decreases intestinal UDP-glucuronosyltransferase (UGT) 1A1 via TLR4\/MyD88 pathway prior to the onset of diarrhea","volume":"166","author":"Tao","year":"2022","journal-title":"Food Chem. Toxicol."},{"key":"10.1016\/j.ejmg.2024.104962_bib25","doi-asserted-by":"crossref","first-page":"231","DOI":"10.2174\/187231208786734120","article-title":"Induction of human UGT1A1 by bilirubin through AhR dependent pathway","volume":"2","author":"Togawa","year":"2008","journal-title":"Drug Metabol. Lett."},{"key":"10.1016\/j.ejmg.2024.104962_bib26","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0065-2423(06)43001-8","article-title":"The heme catabolic pathway and its protective effects on oxidative stress-mediated diseases","volume":"43","author":"V\u00edtek","year":"2007","journal-title":"Adv. Clin. Chem."},{"key":"10.1016\/j.ejmg.2024.104962_bib27","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1002\/cpt.1341","article-title":"Induction of mild hyperbilirubinemia: hype or real therapeutic opportunity?","volume":"106","author":"Vitek","year":"2019","journal-title":"Clin. Pharmacol. Ther."},{"key":"10.1016\/j.ejmg.2024.104962_bib28","doi-asserted-by":"crossref","DOI":"10.1016\/j.gene.2020.144409","article-title":"Roles of UGT1A1 Gly71Arg and TATA promoter polymorphisms in neonatal hyperbilirubinemia: a meta-analysis","volume":"736","author":"Wang","year":"2020","journal-title":"Gene"},{"key":"10.1016\/j.ejmg.2024.104962_bib29","doi-asserted-by":"crossref","DOI":"10.1016\/j.phymed.2021.153726","article-title":"Upregulation of UGT1A1 expression by ursolic acid and oleanolic acid via the inhibition of the PKC\/NF-\u03baB signaling pathway","volume":"92","author":"Yuan","year":"2021","journal-title":"Phytomedicine"},{"key":"10.1016\/j.ejmg.2024.104962_bib30","doi-asserted-by":"crossref","first-page":"8749","DOI":"10.1074\/jbc.M610790200","article-title":"Nrf2-Keap1 signaling pathway regulates human UGT1A1 expression in vitro and in transgenic UGT1 mice","volume":"282","author":"Yueh","year":"2007","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ejmg.2024.104962_bib31","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.clinbiochem.2019.05.012","article-title":"Spectrum of UGT1A1 variants in Pakistani children affected with inherited unconjugated hyperbilirubinemias","volume":"69","author":"Zubaida","year":"2019","journal-title":"Clin. Biochem."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721224000545?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721224000545?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,10,9]],"date-time":"2024-10-09T18:33:49Z","timestamp":1728498829000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721224000545"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10]]},"references-count":31,"alternative-id":["S1769721224000545"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2024.104962","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-2343035\/v1","asserted-by":"object"}]},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2024,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Analysis of UGT1A1 genotype-phenotype correlation in Chinese patients with gilbert and crigler-Najjar II 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.2024.104962","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"104962"}}