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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: thompson rj. 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.
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. Among authors: thompson rj. 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.
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: thompson rj. 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.
Mutations in TJP2, encoding zona occludens 2, and liver disease.
Sambrotta M, Thompson RJ. Sambrotta M, et al. Among authors: thompson rj. Tissue Barriers. 2015 Mar 17;3(3):e1026537. doi: 10.1080/21688370.2015.1026537. eCollection 2015 Jul-Sep. Tissue Barriers. 2015. PMID: 26451340 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: thompson rj. 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: thompson rj. 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.
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: thompson rj. J Pediatr. 2021 Sep;236:124-130. doi: 10.1016/j.jpeds.2021.05.041. Epub 2021 May 21. J Pediatr. 2021. PMID: 34023347
Maralixibat for the treatment of PFIC: Long-term, IBAT inhibition in an open-label, Phase 2 study.
Loomes KM, Squires RH, Kelly D, Rajwal S, Soufi N, Lachaux A, Jankowska I, Mack C, Setchell KDR, Karthikeyan P, Kennedy C, Dorenbaum A, Desai NK, Garner W, Jaecklin T, Vig P, Miethke A, Thompson RJ. Loomes KM, et al. Among authors: thompson rj. Hepatol Commun. 2022 Sep;6(9):2379-2390. doi: 10.1002/hep4.1980. Epub 2022 May 4. Hepatol Commun. 2022. PMID: 35507739 Free PMC article. Clinical Trial.
Impact of long-term administration of maralixibat on children with cholestasis secondary to Alagille syndrome.
Shneider BL, Spino CA, Kamath BM, Magee JC, Ignacio RV, Huang S, Horslen SP, Molleston JP, Miethke AG, Kohli R, Leung DH, Jensen MK, Loomes KM, Karpen SJ, Mack C, Rosenthal P, Squires RH, Baker A, Rajwal S, Kelly D, Sokol RJ, Thompson RJ; for ChiLDReN and UK IMAGO/IMAGINE Investigators. Shneider BL, et al. Among authors: thompson rj. Hepatol Commun. 2022 Aug;6(8):1922-1933. doi: 10.1002/hep4.1992. Epub 2022 Jun 7. Hepatol Commun. 2022. PMID: 35672955 Free PMC article.
596 results