275 related articles for article (PubMed ID: 19101985)
1. Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing.
Byrne JA; Strautnieks SS; Ihrke G; Pagani F; Knisely AS; Linton KJ; Mieli-Vergani G; Thompson RJ
Hepatology; 2009 Feb; 49(2):553-67. PubMed ID: 19101985
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Functional analysis of the correlation between ABCB11 gene mutation and primary intrahepatic stone.
Gan L; Pan S; Cui J; Bai J; Jiang P; He Y
Mol Med Rep; 2019 Jan; 19(1):195-204. PubMed ID: 30431138
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability.
Ho RH; Leake BF; Kilkenny DM; Meyer Zu Schwabedissen HE; Glaeser H; Kroetz DL; Kim RB
Pharmacogenet Genomics; 2010 Jan; 20(1):45-57. PubMed ID: 20010382
[TBL] [Abstract][Full Text] [Related]
7. Liver transcript analysis reveals aberrant splicing due to silent and intronic variations in the ABCB11 gene.
Davit-Spraul A; Oliveira C; Gonzales E; Gaignard P; Thérond P; Jacquemin E
Mol Genet Metab; 2014 Nov; 113(3):225-9. PubMed ID: 25085279
[TBL] [Abstract][Full Text] [Related]
8. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.
Strautnieks SS; Byrne JA; Pawlikowska L; Cebecauerová D; Rayner A; Dutton L; Meier Y; Antoniou A; Stieger B; Arnell H; Ozçay F; Al-Hussaini HF; Bassas AF; Verkade HJ; Fischler B; Németh A; Kotalová R; Shneider BL; Cielecka-Kuszyk J; McClean P; Whitington PF; Sokal E; Jirsa M; Wali SH; Jankowska I; Pawłowska J; Mieli-Vergani G; Knisely AS; Bull LN; Thompson RJ
Gastroenterology; 2008 Apr; 134(4):1203-14. PubMed ID: 18395098
[TBL] [Abstract][Full Text] [Related]
9. Bile salt export pump (BSEP/ABCB11): trafficking and sorting disturbances.
Hayashi H; Sugiyama Y
Curr Mol Pharmacol; 2013 Jul; 6(2):95-103. PubMed ID: 23876151
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency.
Mareux E; Lapalus M; Amzal R; Almes M; Aït-Slimane T; Delaunay JL; Adnot P; Collado-Hilly M; Davit-Spraul A; Falguières T; Callebaut I; Gonzales E; Jacquemin E
Liver Int; 2020 Aug; 40(8):1917-1925. PubMed ID: 32433800
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.
van Mil SW; van der Woerd WL; van der Brugge G; Sturm E; Jansen PL; Bull LN; van den Berg IE; Berger R; Houwen RH; Klomp LW
Gastroenterology; 2004 Aug; 127(2):379-84. PubMed ID: 15300568
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Biosynthesis and trafficking of the bile salt export pump, BSEP: therapeutic implications of BSEP mutations.
Soroka CJ; Boyer JL
Mol Aspects Med; 2014 Jun; 37():3-14. PubMed ID: 23685087
[TBL] [Abstract][Full Text] [Related]
17. PFIC2 and ethnicity-specific bile salt export pump (BSEP, ABCB11) mutations: where do we go from here?
Ananthanarayanan M; Li Y
Liver Int; 2010 Jul; 30(6):777-9. PubMed ID: 20214736
[No Abstract] [Full Text] [Related]
18. Degradation of the bile salt export pump at endoplasmic reticulum in progressive familial intrahepatic cholestasis type II.
Wang L; Dong H; Soroka CJ; Wei N; Boyer JL; Hochstrasser M
Hepatology; 2008 Nov; 48(5):1558-69. PubMed ID: 18798335
[TBL] [Abstract][Full Text] [Related]
19. Short-chain ubiquitination is associated with the degradation rate of a cell-surface-resident bile salt export pump (BSEP/ABCB11).
Hayashi H; Sugiyama Y
Mol Pharmacol; 2009 Jan; 75(1):143-50. PubMed ID: 18829893
[TBL] [Abstract][Full Text] [Related]
20. Differences in presentation and progression between severe FIC1 and BSEP deficiencies.
Pawlikowska L; Strautnieks S; Jankowska I; Czubkowski P; Emerick K; Antoniou A; Wanty C; Fischler B; Jacquemin E; Wali S; Blanchard S; Nielsen IM; Bourke B; McQuaid S; Lacaille F; Byrne JA; van Eerde AM; Kolho KL; Klomp L; Houwen R; Bacchetti P; Lobritto S; Hupertz V; McClean P; Mieli-Vergani G; Shneider B; Nemeth A; Sokal E; Freimer NB; Knisely AS; Rosenthal P; Whitington PF; Pawlowska J; Thompson RJ; Bull LN
J Hepatol; 2010 Jul; 53(1):170-8. PubMed ID: 20447715
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]