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4. Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis. Hertel PM; Bull LN; Thompson RJ; Goodrich NP; Ye W; Magee JC; Squires RH; Bass LM; Heubi JE; Kim GE; Ranganathan S; Schwarz KB; Bozic MA; Horslen SP; Clifton MS; Turmelle YP; Suchy FJ; Superina RA; Wang KS; Loomes KM; Kamath BM; Sokol RJ; Shneider BL; J Pediatr Gastroenterol Nutr; 2021 Aug; 73(2):169-177. PubMed ID: 34016879 [TBL] [Abstract][Full Text] [Related]
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6. 4-phenylbutyrate enhances the cell surface expression and the transport capacity of wild-type and mutated bile salt export pumps. Hayashi H; Sugiyama Y Hepatology; 2007 Jun; 45(6):1506-16. PubMed ID: 17538928 [TBL] [Abstract][Full Text] [Related]
7. Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells. Kagawa T; Watanabe N; Mochizuki K; Numari A; Ikeno Y; Itoh J; Tanaka H; Arias IM; Mine T Am J Physiol Gastrointest Liver Physiol; 2008 Jan; 294(1):G58-67. PubMed ID: 17947449 [TBL] [Abstract][Full Text] [Related]
8. Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases. Lam P; Pearson CL; Soroka CJ; Xu S; Mennone A; Boyer JL Am J Physiol Cell Physiol; 2007 Nov; 293(5):C1709-16. PubMed ID: 17855769 [TBL] [Abstract][Full Text] [Related]
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10. Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11. Hayashi H; Takada T; Suzuki H; Akita H; Sugiyama Y Hepatology; 2005 Apr; 41(4):916-24. PubMed ID: 15791618 [TBL] [Abstract][Full Text] [Related]
11. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Jansen PL; Strautnieks SS; Jacquemin E; Hadchouel M; Sokal EM; Hooiveld GJ; Koning JH; De Jager-Krikken A; Kuipers F; Stellaard F; Bijleveld CM; Gouw A; Van Goor H; Thompson RJ; Müller M Gastroenterology; 1999 Dec; 117(6):1370-9. PubMed ID: 10579978 [TBL] [Abstract][Full Text] [Related]
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17. The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II. Wang L; Soroka CJ; Boyer JL J Clin Invest; 2002 Oct; 110(7):965-72. PubMed ID: 12370274 [TBL] [Abstract][Full Text] [Related]
18. Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. Noe J; Kullak-Ublick GA; Jochum W; Stieger B; Kerb R; Haberl M; Müllhaupt B; Meier PJ; Pauli-Magnus C J Hepatol; 2005 Sep; 43(3):536-43. PubMed ID: 16039748 [TBL] [Abstract][Full Text] [Related]
19. A novel mutation within a transmembrane helix of the bile salt export pump (BSEP, ABCB11) with delayed development of cirrhosis. Stindt J; Ellinger P; Weissenberger K; Dröge C; Herebian D; Mayatepek E; Homey B; Braun S; Schulte am Esch J; Horacek M; Canbay A; Schmitt L; Häussinger D; Kubitz R Liver Int; 2013 Nov; 33(10):1527-35. PubMed ID: 23758865 [TBL] [Abstract][Full Text] [Related]
20. E297G mutated bile salt export pump (BSEP) function enhancers derived from GW4064: structural development study and separation from farnesoid X receptor-agonistic activity. Misawa T; Hayashi H; Makishima M; Sugiyama Y; Hashimoto Y Bioorg Med Chem Lett; 2012 Jun; 22(12):3962-6. PubMed ID: 22583617 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]