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Page 1
Cholestasis Due to USP53 Deficiency.
Bull LN, Ellmers R, Foskett P, Strautnieks S, Sambrotta M, Czubkowski P, Jankowska I, Wagner B, Deheragoda M, Thompson RJ. Bull LN, et al. J Pediatr Gastroenterol Nutr. 2021 May 1;72(5):667-673. doi: 10.1097/MPG.0000000000002926. J Pediatr Gastroenterol Nutr. 2021. PMID: 33075013 Free PMC article.
Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.
Pham DH, Kudira R, Xu L, Valencia CA, Ellis JL, Shi T, Evason KJ, Osuji I, Matuschek N, Pfuhler L, Mullen M, Mohanty SK, Husami A, Bull LN, Zhang K, Wali S, Yin C, Miethke A. Pham DH, et al. Gastroenterology. 2021 Jul;161(1):287-300.e16. doi: 10.1053/j.gastro.2021.03.026. Epub 2021 Mar 23. Gastroenterology. 2021. PMID: 33771553 Free PMC article.
Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1.
Grammatikopoulos T, Hadzic N, Foskett P, Strautnieks S, Samyn M, Vara R, Dhawan A, Hertecant J, Al Jasmi F, Rahman O, Deheragoda M, Bull LN, Thompson RJ; University of Washington Center for Mendelian Genomics. Grammatikopoulos T, et al. Hepatol Commun. 2022 Mar;6(3):473-479. doi: 10.1002/hep4.1824. Epub 2021 Oct 22. Hepatol Commun. 2022. PMID: 34677006 Free PMC article.
Mutations in TJP2 cause progressive cholestatic liver disease.
Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, Logan CV, Newbury LJ, Kamath BM, Ling S, Grammatikopoulos T, Wagner BE, Magee JC, Sokol RJ, Mieli-Vergani G; University of Washington Center for Mendelian Genomics; Smith JD, Johnson CA, McClean P, Simpson MA, Knisely AS, Bull LN, Thompson RJ. Sambrotta M, et al. Nat Genet. 2014 Apr;46(4):326-8. doi: 10.1038/ng.2918. Epub 2014 Mar 9. Nat Genet. 2014. PMID: 24614073 Free PMC article.
Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies.
Bull LN, Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Dodge JL, Emerick K, Wanty C, Wali S, Blanchard S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Houwen R, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Sokal E, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ. Bull LN, et al. Hepatol Commun. 2018 Mar 30;2(5):515-528. doi: 10.1002/hep4.1168. eCollection 2018 May. Hepatol Commun. 2018. PMID: 29761168 Free PMC article.
Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.
Grammatikopoulos T, Sambrotta M, Strautnieks S, Foskett P, Knisely AS, Wagner B, Deheragoda M, Starling C, Mieli-Vergani G, Smith J; University of Washington Center for Mendelian Genomics; Bull L, Thompson RJ. Grammatikopoulos T, et al. J Hepatol. 2016 Dec;65(6):1179-1187. doi: 10.1016/j.jhep.2016.07.017. Epub 2016 Jul 25. J Hepatol. 2016. PMID: 27469900 Free PMC article.
Hepatocellular carcinoma associated with tight-junction protein 2 deficiency.
Zhou S, Hertel PM, Finegold MJ, Wang L, Kerkar N, Wang J, Wong LJ, Plon SE, Sambrotta M, Foskett P, Niu Z, Thompson RJ, Knisely AS. Zhou S, et al. Hepatology. 2015 Dec;62(6):1914-6. doi: 10.1002/hep.27872. Epub 2015 Jun 19. Hepatology. 2015. PMID: 25921221 Free PMC article. No abstract available.