{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T23:35:19Z","timestamp":1790897719054,"version":"4.1.0"},"reference-count":115,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2022,6,8]],"date-time":"2022-06-08T00:00:00Z","timestamp":1654646400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Choledochal cysts (CC) is characterized by extra- and\/or intra-hepatic b\\ile duct dilations. There are two main theories, \u201cpancreaticobiliary maljunction\u201d and \u201ccongenital stenosis of bile ducts\u201d proposed for the pathogenesis of CC. Although family cases or CC associated with other anomalies have been reported, the molecular pathogenesis of CC is still poorly understood. Recent advances in transcriptomics and genomics analysis platforms have unveiled key expression signatures\/genes\/signaling pathways in the pathogenesis of human diseases including CC. This review summarizes insights from genomics and transcriptomics studies into the pathogenesis of CC, with the aim to improve (i) our understanding of its underlying complex pathomechanisms, and (ii) clinical management of different subtypes of CC, in particular their associated hepatic fibrotic change and their risk of malignancy transformation.<\/jats:p>","DOI":"10.3390\/genes13061030","type":"journal-article","created":{"date-parts":[[2022,6,10]],"date-time":"2022-06-10T00:22:39Z","timestamp":1654820559000},"page":"1030","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Pathogenesis of Choledochal Cyst: Insights from Genomics and Transcriptomics"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2414-7990","authenticated-orcid":false,"given":"Yongqin","family":"Ye","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Macau University of Science and Technology, Macau, China"},{"name":"Department of Surgery, School of Clinical Medicine, University of Hong Kong, Hong Kong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1758-8854","authenticated-orcid":false,"given":"Vincent Chi Hang","family":"Lui","sequence":"additional","affiliation":[{"name":"Department of Surgery, School of Clinical Medicine, University of Hong Kong, Hong Kong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul Kwong Hang","family":"Tam","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Macau University of Science and Technology, Macau, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/0002-9610(77)90359-2","article-title":"Congenital bile duct cysts: Classification, operative procedures, and review of thirty-seven cases including cancer arising from choledochal cyst","volume":"134","author":"Todani","year":"1977","journal-title":"Am. 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