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Page 1
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.
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. Among authors: sambrotta m. 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.
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. Among authors: sambrotta m. 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.
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. Among authors: sambrotta m. 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.
Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology.
Hegarty R, Gibson P, Sambrotta M, Strautnieks S, Foskett P, Ellard S, Baptista J, Lillis S, Bansal S, Vara R, Dhawan A, Grammatikopoulos T, Thompson RJ. Hegarty R, et al. Among authors: sambrotta m. J Pediatr. 2021 Sep;236:124-130. doi: 10.1016/j.jpeds.2021.05.041. Epub 2021 May 21. J Pediatr. 2021. PMID: 34023347
Human iPSC-derived hepatocyte system models cholestasis with tight junction protein 2 deficiency.
Li CZ, Ogawa H, Ng SS, Chen X, Kishimoto E, Sakabe K, Fukami A, Hu YC, Mayhew CN, Hellmann J, Miethke A, Tasnova NL, Blackford SJI, Tang ZM, Syanda AM, Ma L, Xiao F, Sambrotta M, Tavabie O, Soares F, Baker O, Danovi D, Hayashi H, Thompson RJ, Rashid ST, Asai A. Li CZ, et al. Among authors: sambrotta m. JHEP Rep. 2022 Feb 1;4(4):100446. doi: 10.1016/j.jhepr.2022.100446. eCollection 2022 Apr. JHEP Rep. 2022. PMID: 35284810 Free PMC article.