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Items: 1 to 20 of 193

1.

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.

PMID:
16039748
2.

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. Epub 2007 Oct 18.

3.

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. Epub 2007 Sep 13.

4.

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. doi: 10.1111/liv.12217. Epub 2013 Jun 12.

PMID:
23758865
5.

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. doi: 10.1016/j.mam.2013.05.001. Epub 2013 May 15. Review.

6.

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.

PMID:
15791618
7.

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. doi: 10.1002/hep.22683.

PMID:
19101985
8.

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. doi: 10.1124/mol.108.049288. Epub 2008 Oct 1.

9.

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. doi: 10.1053/j.gastro.2008.01.038. Epub 2008 Jan 18.

10.

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.

PMID:
15300568
11.

The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease.

Lam P, Soroka CJ, Boyer JL.

Semin Liver Dis. 2010 May;30(2):125-33. doi: 10.1055/s-0030-1253222. Epub 2010 Apr 26. Review.

12.

Bile salt export pump (BSEP/ABCB11): trafficking and sorting disturbances.

Hayashi H, Sugiyama Y.

Curr Mol Pharmacol. 2013 Jul;6(2):95-103. Review.

PMID:
23876151
14.

Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies.

Evason K, Bove KE, Finegold MJ, Knisely AS, Rhee S, Rosenthal P, Miethke AG, Karpen SJ, Ferrell LD, Kim GE.

Am J Surg Pathol. 2011 May;35(5):687-96. doi: 10.1097/PAS.0b013e318212ec87.

15.
16.

Discovery and structural development of small molecules that enhance transport activity of bile salt export pump mutant associated with progressive familial intrahepatic cholestasis type 2.

Misawa T, Hayashi H, Sugiyama Y, Hashimoto Y.

Bioorg Med Chem. 2012 May 1;20(9):2940-9. doi: 10.1016/j.bmc.2012.03.016. Epub 2012 Mar 14.

PMID:
22464344
17.

 Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing.

Vitale G, Pirillo M, Mantovani V, Marasco E, Aquilano A, Gamal N, Francalanci P, Conti F, Andreone P.

Ann Hepatol. 2016 Sep-Oct;15(5):795-800. doi: 10.5604/16652681.1212618.

18.

ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.

Davit-Spraul A, Fabre M, Branchereau S, Baussan C, Gonzales E, Stieger B, Bernard O, Jacquemin E.

Hepatology. 2010 May;51(5):1645-55. doi: 10.1002/hep.23539.

PMID:
20232290
19.

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.

PMID:
10579978
20.

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.

Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Németh A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ.

Nat Genet. 1998 Nov;20(3):233-8.

PMID:
9806540

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