{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T18:09:16Z","timestamp":1792001356205,"version":"4.4.0"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,8,21]],"date-time":"2024-08-21T00:00:00Z","timestamp":1724198400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100010724","name":"Health Systems Research Institute","doi-asserted-by":"publisher","award":["RA\u2010MF\u201012\/66"],"award-info":[{"award-number":["RA\u2010MF\u201012\/66"]}],"id":[{"id":"10.13039\/501100010724","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009417","name":"Care-for-Rare Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009417","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Plectin is a cytoskeletal linker of intermediate filaments, encoded by the\n                    <jats:italic>PLEC<\/jats:italic>\n                    gene. Recently, plectin mutations have been identified in a pair of siblings with progressive familial intrahepatic cholestasis. Here, we reported two unrelated infants with plectinopathy causing cholestatic jaundice with novel variants in the\n                    <jats:italic>PLEC<\/jats:italic>\n                    gene. Trio exome sequencing identified compound heterozygous variants in the\n                    <jats:italic>PLEC<\/jats:italic>\n                    gene for each patient: c.71\u201011768C&gt;T and c.4331G&gt;T (p.Arg1444Leu) in Patient 1, and c.592C&gt;T (p.Arg198Trp) and c.4322G&gt;A (p.Arg1441His) in Patient 2. Immunofluorescence staining of liver samples from both patients revealed scattered signals of plectin in the cytoplasm of hepatocytes and reduced colocalization of plectin and cytokeratin 8. This study not only underscores the involvement of plectin in cholestasis but also highlights the utility of exome sequencing as a powerful diagnostic tool in identifying genetic underpinnings of infantile cholestasis.\n                  <\/jats:p>","DOI":"10.1111\/cge.14611","type":"journal-article","created":{"date-parts":[[2024,8,21]],"date-time":"2024-08-21T23:09:48Z","timestamp":1724281788000},"page":"769-775","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Novel\n                    <i>PLEC<\/i>\n                    variants associated with infantile cholestasis"],"prefix":"10.1111","volume":"106","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9318-3974","authenticated-orcid":false,"given":"Phawin","family":"Kor\u2010anantakul","sequence":"first","affiliation":[{"name":"Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics Faculty of Medicine, Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Genomics and Precision Medicine King Chulalongkorn Memorial Hospital, the Thai Red Cross Society  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4074-5838","authenticated-orcid":false,"given":"Huey\u2010Ling","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics National Taiwan University College of Medicine and Children's Hospital  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3578-3546","authenticated-orcid":false,"given":"Ya\u2010Hui","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics National Taiwan University College of Medicine and Children's Hospital  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7238-589X","authenticated-orcid":false,"given":"Chupong","family":"Ittiwut","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics Faculty of Medicine, Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Genomics and Precision Medicine King Chulalongkorn Memorial Hospital, the Thai Red Cross Society  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7540-7564","authenticated-orcid":false,"given":"Rungnapa","family":"Ittiwut","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics Faculty of Medicine, Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Genomics and Precision Medicine King Chulalongkorn Memorial Hospital, the Thai Red Cross Society  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nataruks","family":"Chaijitraruch","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology and Hepatology, Department of Pediatrics Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5679-7547","authenticated-orcid":false,"given":"Kanya","family":"Suphapeetiporn","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics Faculty of Medicine, Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Genomics and Precision Medicine King Chulalongkorn Memorial Hospital, the Thai Red Cross Society  Bangkok 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Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,8,21]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24434"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2017.12.011"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.30841"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/pai.13701"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14060"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2022.10.013"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.202105146"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells10092453"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11070716"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.10.017"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells10092480"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv066"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2016.09.032"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg345"}],"container-title":["Clinical 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