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Journal Abstract Search

309 related items for PubMed ID: 15888793

  • 1. ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.
    Müllenbach R, Bennett A, Tetlow N, Patel N, Hamilton G, Cheng F, Chambers J, Howard R, Taylor-Robinson SD, Williamson C.
    Gut; 2005 Jun; 54(6):829-34. PubMed ID: 15888793
    [Abstract] [Full Text] [Related]

  • 2. Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy.
    Painter JN, Savander M, Ropponen A, Nupponen N, Riikonen S, Ylikorkala O, Lehesjoki AE, Aittomäki K.
    Eur J Hum Genet; 2005 Apr; 13(4):435-9. PubMed ID: 15657619
    [Abstract] [Full Text] [Related]

  • 3. Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1.
    Folmer DE, van der Mark VA, Ho-Mok KS, Oude Elferink RP, Paulusma CC.
    Hepatology; 2009 Nov; 50(5):1597-605. PubMed ID: 19731236
    [Abstract] [Full Text] [Related]

  • 4. NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1, ABCB11 and ABCB4 mutations.
    Davit-Spraul A, Gonzales E, Jacquemin E.
    Clin Res Hepatol Gastroenterol; 2012 Dec; 36(6):569-73. PubMed ID: 23142591
    [Abstract] [Full Text] [Related]

  • 5. An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.
    Dixon PH, Sambrotta M, Chambers J, Taylor-Harris P, Syngelaki A, Nicolaides K, Knisely AS, Thompson RJ, Williamson C.
    Sci Rep; 2017 Sep 18; 7(1):11823. PubMed ID: 28924228
    [Abstract] [Full Text] [Related]

  • 6. Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy.
    Schneider G, Paus TC, Kullak-Ublick GA, Meier PJ, Wienker TF, Lang T, van de Vondel P, Sauerbruch T, Reichel C.
    Hepatology; 2007 Jan 18; 45(1):150-8. PubMed ID: 17187437
    [Abstract] [Full Text] [Related]

  • 7. 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 18; 24(5):541-53. PubMed ID: 20955958
    [Abstract] [Full Text] [Related]

  • 8. Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking.
    Dixon PH, Weerasekera N, Linton KJ, Donaldson O, Chambers J, Egginton E, Weaver J, Nelson-Piercy C, de Swiet M, Warnes G, Elias E, Higgins CF, Johnston DG, McCarthy MI, Williamson C.
    Hum Mol Genet; 2000 May 01; 9(8):1209-17. PubMed ID: 10767346
    [Abstract] [Full Text] [Related]

  • 9. A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT.
    Tavian D, Degiorgio D, Roncaglia N, Vergani P, Cameroni I, Colombo R, Coviello DA.
    Dig Liver Dis; 2009 Sep 01; 41(9):671-5. PubMed ID: 19261551
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 133(2):507-16. PubMed ID: 17681172
    [Abstract] [Full Text] [Related]

  • 11. Biliary transporter gene mutations in severe intrahepatic cholestasis of pregnancy: Diagnostic and management implications.
    Yeap SP, Harley H, Thompson R, Williamson KD, Bate J, Sethna F, Farrell G, Hague WB.
    J Gastroenterol Hepatol; 2019 Feb 01; 34(2):425-435. PubMed ID: 29992621
    [Abstract] [Full Text] [Related]

  • 12. Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.
    Deng BC, Lv S, Cui W, Zhao R, Lu X, Wu J, Liu P.
    World J Gastroenterol; 2012 Nov 28; 18(44):6504-9. PubMed ID: 23197899
    [Abstract] [Full Text] [Related]

  • 13. New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications.
    Sticova E, Jirsa M, Pawłowska J.
    Can J Gastroenterol Hepatol; 2018 Nov 28; 2018():2313675. PubMed ID: 30148122
    [Abstract] [Full Text] [Related]

  • 14. A case of progressive familial intrahepatic cholestasis type 1 with compound heterozygous mutations of ATP8B1.
    Numakura C, Abukawa D, Kimura T, Tanabe S, Hayasaka K.
    Pediatr Int; 2011 Feb 28; 53(1):107-10. PubMed ID: 21342337
    [No Abstract] [Full Text] [Related]

  • 15. A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.
    Sharma A, Poddar U, Agnihotry S, Aggarwal R.
    Indian Pediatr; 2016 Dec 15; 53(12):1099-1101. PubMed ID: 28064265
    [Abstract] [Full Text] [Related]

  • 16. Novel splice-site mutation in ATP8B1 results in atypical progressive familial intrahepatic cholestasis type 1.
    Copeland E, Renault N, Renault M, Dyack S, Bulman DE, Bedard K, Otley A, Magee F, Acott P, Greer WL.
    J Gastroenterol Hepatol; 2013 Mar 15; 28(3):560-4. PubMed ID: 23033845
    [Abstract] [Full Text] [Related]

  • 17. Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation.
    Lykavieris P, van Mil S, Cresteil D, Fabre M, Hadchouel M, Klomp L, Bernard O, Jacquemin E.
    J Hepatol; 2003 Sep 15; 39(3):447-52. PubMed ID: 12927934
    [Abstract] [Full Text] [Related]

  • 18. The lipid flippase heterodimer ATP8B1-CDC50A is essential for surface expression of the apical sodium-dependent bile acid transporter (SLC10A2/ASBT) in intestinal Caco-2 cells.
    van der Mark VA, de Waart DR, Ho-Mok KS, Tabbers MM, Voogt HW, Oude Elferink RP, Knisely AS, Paulusma CC.
    Biochim Biophys Acta; 2014 Dec 15; 1842(12 Pt A):2378-86. PubMed ID: 25239307
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 40(1):27-38. PubMed ID: 15239083
    [Abstract] [Full Text] [Related]

  • 20. Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy.
    Floreani A, Carderi I, Paternoster D, Soardo G, Azzaroli F, Esposito W, Montagnani M, Marchesoni D, Variola A, Rosa Rizzotto E, Braghin C, Mazzella G.
    Dig Liver Dis; 2008 May 15; 40(5):366-70. PubMed ID: 18083082
    [Abstract] [Full Text] [Related]

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