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Results: 1 to 20 of 87

1.

ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults.

Ziol M, Barbu V, Rosmorduc O, Frassati-Biaggi A, Barget N, Hermelin B, Scheffer GL, Bennouna S, Trinchet JC, Beaugrand M, Ganne-Carrié N.

Gastroenterology. 2008 Jul;135(1):131-41. doi: 10.1053/j.gastro.2008.03.044. Epub 2008 Mar 26. Erratum in: Gastroenterology. 2008 Oct;135(4):1429.

PMID:
18482588
[PubMed - indexed for MEDLINE]
2.

Evaluation of in silico splice tools for decision-making in molecular diagnosis.

Houdayer C, Dehainault C, Mattler C, Michaux D, Caux-Moncoutier V, Pagès-Berhouet S, d'Enghien CD, Laugé A, Castera L, Gauthier-Villars M, Stoppa-Lyonnet D.

Hum Mutat. 2008 Jul;29(7):975-82. doi: 10.1002/humu.20765.

PMID:
18449911
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity.

Paulusma CC, Folmer DE, Ho-Mok KS, de Waart DR, Hilarius PM, Verhoeven AJ, Oude Elferink RP.

Hepatology. 2008 Jan;47(1):268-78.

PMID:
17948906
[PubMed - indexed for MEDLINE]
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. Epub 2007 Oct 18.

PMID:
17947449
[PubMed - indexed for MEDLINE]
Free Article
6.

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.

PMID:
17855769
[PubMed - indexed for MEDLINE]
Free Article
7.

Partial internal biliary diversion through a cholecystojejunocolonic anastomosis--a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report.

Bustorff-Silva J, Sbraggia Neto L, Olímpio H, de Alcantara RV, Matsushima E, De Tommaso AM, Brandão MA, Hessel G.

J Pediatr Surg. 2007 Aug;42(8):1337-40.

PMID:
17706492
[PubMed - indexed for MEDLINE]
8.

Functional variants of the central bile acid sensor FXR identified in intrahepatic cholestasis of pregnancy.

Van Mil SW, Milona A, Dixon PH, Mullenbach R, Geenes VL, Chambers J, Shevchuk V, Moore GE, Lammert F, Glantz AG, Mattsson LA, Whittaker J, Parker MG, White R, Williamson C.

Gastroenterology. 2007 Aug;133(2):507-16. Epub 2007 May 23.

PMID:
17681172
[PubMed - indexed for MEDLINE]
9.

Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.

Rosmorduc O, Poupon R.

Orphanet J Rare Dis. 2007 Jun 11;2:29. Review.

PMID:
17562004
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
17538928
[PubMed - indexed for MEDLINE]
11.

Bile salt-dependent efflux of cellular phospholipids mediated by ATP binding cassette protein B4.

Morita SY, Kobayashi A, Takanezawa Y, Kioka N, Handa T, Arai H, Matsuo M, Ueda K.

Hepatology. 2007 Jul;46(1):188-99.

PMID:
17523162
[PubMed - indexed for MEDLINE]
12.

Ileal exclusion for refractory symptomatic cholestasis in Alagille syndrome.

Modi BP, Suh MY, Jonas MM, Lillehei C, Kim HB.

J Pediatr Surg. 2007 May;42(5):800-5.

PMID:
17502187
[PubMed - indexed for MEDLINE]
13.

Prenatal molecular diagnosis of inherited cholestatic diseases.

Jung C, Driancourt C, Baussan C, Zater M, Hadchouel M, Meunier-Rotival M, Guiochon-Mantel A, Jacquemin E.

J Pediatr Gastroenterol Nutr. 2007 Apr;44(4):453-8.

PMID:
17414143
[PubMed - indexed for MEDLINE]
14.

MDR3 (ABCB4) defects: a paradigm for the genetics of adult cholestatic syndromes.

Trauner M, Fickert P, Wagner M.

Semin Liver Dis. 2007 Feb;27(1):77-98. Review.

PMID:
17295178
[PubMed - indexed for MEDLINE]
15.

Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury.

Lang C, Meier Y, Stieger B, Beuers U, Lang T, Kerb R, Kullak-Ublick GA, Meier PJ, Pauli-Magnus C.

Pharmacogenet Genomics. 2007 Jan;17(1):47-60.

PMID:
17264802
[PubMed - indexed for MEDLINE]
16.

Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis.

Liu C, Aronow BJ, Jegga AG, Wang N, Miethke A, Mourya R, Bezerra JA.

Gastroenterology. 2007 Jan;132(1):119-26. Epub 2006 Oct 21.

PMID:
17241866
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Hepatobiliary transporters and drug-induced cholestasis.

Pauli-Magnus C, Meier PJ.

Hepatology. 2006 Oct;44(4):778-87. Review.

PMID:
17006912
[PubMed - indexed for MEDLINE]
18.

Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy.

Keitel V, Vogt C, Häussinger D, Kubitz R.

Gastroenterology. 2006 Aug;131(2):624-9.

PMID:
16890614
[PubMed - indexed for MEDLINE]
19.

Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency.

Knisely AS, Strautnieks SS, Meier Y, Stieger B, Byrne JA, Portmann BC, Bull LN, Pawlikowska L, Bilezikçi B, Ozçay F, László A, Tiszlavicz L, Moore L, Raftos J, Arnell H, Fischler B, Németh A, Papadogiannakis N, Cielecka-Kuszyk J, Jankowska I, Pawłowska J, Melín-Aldana H, Emerick KM, Whitington PF, Mieli-Vergani G, Thompson RJ.

Hepatology. 2006 Aug;44(2):478-86.

PMID:
16871584
[PubMed - indexed for MEDLINE]
20.

Safety of living-related liver transplantation for progressive familial intrahepatic cholestasis.

Cutillo L, Najimi M, Smets F, Janssen M, Reding R, de Ville de Goyet J, Sokal EM.

Pediatr Transplant. 2006 Aug;10(5):570-4.

PMID:
16856993
[PubMed - indexed for MEDLINE]

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