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Items: 1 to 20 of 315

1.

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
2.

Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography.

Chen HL, Liu YJ, Su YN, Wang NY, Wu SH, Ni YH, Hsu HY, Wu TC, Chang MH.

J Pediatr. 2008 Dec;153(6):825-32. doi: 10.1016/j.jpeds.2008.06.034. Epub 2008 Aug 9.

PMID:
18692205
3.

Characterization of mutations in ATP8B1 associated with hereditary cholestasis.

Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, Juijn JA, Pabón-Peña C, Smith LB, DeYoung JA, Byrne JA, Gombert J, van der Brugge G, Berger R, Jankowska I, Pawlowska J, Villa E, Knisely AS, Thompson RJ, Freimer NB, Houwen RH, Bull LN.

Hepatology. 2004 Jul;40(1):27-38.

PMID:
15239083
4.

Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.

van der Woerd WL, van Mil SW, Stapelbroek JM, Klomp LW, van de Graaf SF, Houwen RH.

Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):541-53. doi: 10.1016/j.bpg.2010.07.010. Review.

PMID:
20955958
5.

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
6.

ABCB11 gene mutations in Chinese children with progressive intrahepatic cholestasis and low gamma glutamyltransferase.

Liu LY, Wang ZL, Wang XH, Zhu QR, Wang JS.

Liver Int. 2010 Jul;30(6):809-15. doi: 10.1111/j.1478-3231.2009.02112.x. Epub 2009 Oct 21.

PMID:
19845854
7.

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.

PMID:
18395098
8.

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
9.

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
10.

Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2.

Takahashi A, Hasegawa M, Sumazaki R, Suzuki M, Toki F, Suehiro T, Onigata K, Tomomasa T, Suzuki T, Matsui A, Morikawa A, Kuwano H.

Eur J Gastroenterol Hepatol. 2007 Nov;19(11):942-6.

PMID:
18049162
11.

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.

12.

A new ABCB11 mutation in two Italian children with familial intrahepatic cholestasis.

Nobili V, Di Giandomenico S, Francalanci P, Callea F, Marcellini M, Santorelli FM.

J Gastroenterol. 2006 Jun;41(6):598-603.

PMID:
16868810
13.

Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT.

Liu LY, Wang XH, Wang ZL, Zhu QR, Wang JS.

J Pediatr Gastroenterol Nutr. 2010 Feb;50(2):179-83. doi: 10.1097/MPG.0b013e3181c1b368.

PMID:
20038848
14.

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.

15.

Progressive familial intrahepatic cholestasis.

Cavestro GM, Frulloni L, Cerati E, Ribeiro LA, Corrente V, Sianesi M, Franzè A, Di Mario F.

Acta Biomed. 2002;73(3-4):53-6. Review.

PMID:
12596388
16.

Benign recurrent intrahepatic cholestasis associated with mutations of the bile salt export pump.

Kubitz R, Keitel V, Scheuring S, Köhrer K, Häussinger D.

J Clin Gastroenterol. 2006 Feb;40(2):171-5.

PMID:
16394881
17.

Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1.

Alvarez L, Jara P, Sánchez-Sabaté E, Hierro L, Larrauri J, Díaz MC, Camarena C, De la Vega A, Frauca E, López-Collazo E, Lapunzina P.

Hum Mol Genet. 2004 Oct 15;13(20):2451-60. Epub 2004 Aug 18.

18.

Prenatal diagnosis of progressive familial intrahepatic cholestasis type 2.

Chen ST, Chen HL, Su YN, Liu YJ, Ni YH, Hsu HY, Chu CS, Wang NY, Chang MH.

J Gastroenterol Hepatol. 2008 Sep;23(9):1390-3. doi: 10.1111/j.1440-1746.2008.05432.x.

PMID:
18853996
19.

A progressive familial intrahepatic cholestasis type 2 mutation causes an unstable, temperature-sensitive bile salt export pump.

Plass JR, Mol O, Heegsma J, Geuken M, de Bruin J, Elling G, Müller M, Faber KN, Jansen PL.

J Hepatol. 2004 Jan;40(1):24-30.

PMID:
14672610
20.

Progressive familial intrahepatic cholestasis.

Jacquemin E.

Clin Res Hepatol Gastroenterol. 2012 Sep;36 Suppl 1:S26-35. doi: 10.1016/S2210-7401(12)70018-9. Review.

PMID:
23141890
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