{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T18:09:17Z","timestamp":1792001357224,"version":"4.4.0"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,10,23]],"date-time":"2024-10-23T00:00:00Z","timestamp":1729641600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. pediatr. gastroenterol. nutr."],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Ubiquitin\u2010specific protease 53 (USP53) is essential for formation of cellular tight junctions and variations in this gene disrupt the tight junctions, resulting in cholestasis. We describe the clinical manifestations and outcomes of patients with USP53 mutations from the Indian progressive familial intrahepatic cholestasis registry. All 29 patients who harbored mutations in the USP53 gene either in the homozygous, compound heterozygous, or heterozygous state and presented with cholestasis were included. USP53 variants related to cholestasis had good outcomes, with native liver survival in 82.7%, whereas 17.3% required liver transplantation. Jaundice developed in 93% and within 3 months of age in 48.8%. Jaundice resolved in 21 (72.4%). Pruritus 76% at a median age of 7 months (severe in 10\/22, 45% and refractory to medical therapy in 4, 18.1%). Majority of them (82.7%) had biallelic mutations. Protein\u2010truncating mutations were present in 20 (69%) and missense mutations in 9 (31%). No correlation was found between the genotype and the outcome.<\/jats:p>","DOI":"10.1002\/jpn3.12392","type":"journal-article","created":{"date-parts":[[2024,10,23]],"date-time":"2024-10-23T06:05:53Z","timestamp":1729663553000},"page":"1199-1208","source":"Crossref","is-referenced-by-count":8,"title":["Natural course and outcomes of children with ubiquitin\u2010specific protease 53 (USP53)\u2010related genetic chronic cholestasis"],"prefix":"10.1002","volume":"79","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0888-8625","authenticated-orcid":false,"given":"Seema","family":"Alam","sequence":"first","affiliation":[{"name":"Department of Pediatric Hepatology Institute of Liver and Biliary Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bikrant Bihari","family":"Lal","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hepatology Institute of Liver and Biliary Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aathira","family":"Ravindranath","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology Apollo BGS Hospital Mysuru Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashish","family":"Bavdekar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics KEM Hospital and Research Centre Pune India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nirmala","family":"Dheivamani","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology Institute of Child Health and Hospital for Children Chennai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pandey","family":"Snehavardhan","sequence":"additional","affiliation":[{"name":"Sahyadri Superspeciality Hospital Pvt Ltd Pune India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aashay","family":"Shah","sequence":"additional","affiliation":[{"name":"PRISM Pediatric Gastro Ahmedabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parijat Ram","family":"Tripathi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology Ankura Hospital for Women and Children Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aabha","family":"Nagral","sequence":"additional","affiliation":[{"name":"Jaslok Hospital and Research Center Mumbai India"},{"name":"Apollo Hospital Navi Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. 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