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Journal Abstract Search

323 related items for PubMed ID: 9500542

  • 1. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
    Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB.
    Nat Genet; 1998 Mar; 18(3):219-24. PubMed ID: 9500542
    [Abstract] [Full Text] [Related]

  • 2. FIC1 disease: a spectrum of intrahepatic cholestatic disorders.
    van Mil SW, Klomp LW, Bull LN, Houwen RH.
    Semin Liver Dis; 2001 Nov; 21(4):535-44. PubMed ID: 11745041
    [Abstract] [Full Text] [Related]

  • 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. PubMed ID: 15239083
    [Abstract] [Full Text] [Related]

  • 4. Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation.
    Miyagawa-Hayashino A, Egawa H, Yorifuji T, Hasegawa M, Haga H, Tsuruyama T, Wen MC, Sumazaki R, Manabe T, Uemoto S.
    Liver Transpl; 2009 Jun; 15(6):610-8. PubMed ID: 19479804
    [Abstract] [Full Text] [Related]

  • 5. Familial intrahepatic cholestasis 1: studies of localization and function.
    Ujhazy P, Ortiz D, Misra S, Li S, Moseley J, Jones H, Arias IM.
    Hepatology; 2001 Oct; 34(4 Pt 1):768-75. PubMed ID: 11584374
    [Abstract] [Full Text] [Related]

  • 6. Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.
    Giovannoni I, Callea F, Bellacchio E, Torre G, De Ville De Goyet J, Francalanci P.
    PLoS One; 2015 Oct; 10(12):e0145021. PubMed ID: 26678486
    [Abstract] [Full Text] [Related]

  • 7. Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.
    Bull LN, Juijn JA, Liao M, van Eijk MJ, Sinke RJ, Stricker NL, DeYoung JA, Carlton VE, Baharloo S, Klomp LW, Abukawa D, Barton DE, Bass NM, Bourke B, Drumm B, Jankowska I, Lovisetto P, McQuaid S, Pawlowska J, Tazawa Y, Villa E, Tygstrup N, Berger R, Knisely AS, Freimer NB.
    Hum Genet; 1999 Mar; 104(3):241-8. PubMed ID: 10323248
    [Abstract] [Full Text] [Related]

  • 8. [Study on relationship between expression of familial intrahepatic cholestasis 1 mRNA in placenta and Intrahepatic cholestasis of pregnancy].
    Xu Z, Ke JC, Xing AY.
    Sichuan Da Xue Xue Bao Yi Xue Ban; 2008 May; 39(3):430-3. PubMed ID: 18575333
    [Abstract] [Full Text] [Related]

  • 9. FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body.
    Harris MJ, Arias IM.
    Biochim Biophys Acta; 2003 Jul 21; 1633(2):127-31. PubMed ID: 12880872
    [Abstract] [Full Text] [Related]

  • 10. Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport.
    Paulusma CC, Groen A, Kunne C, Ho-Mok KS, Spijkerboer AL, Rudi de Waart D, Hoek FJ, Vreeling H, Hoeben KA, van Marle J, Pawlikowska L, Bull LN, Hofmann AF, Knisely AS, Oude Elferink RP.
    Hepatology; 2006 Jul 21; 44(1):195-204. PubMed ID: 16799980
    [Abstract] [Full Text] [Related]

  • 11. Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate.
    van der Velden LM, Stapelbroek JM, Krieger E, van den Berghe PV, Berger R, Verhulst PM, Holthuis JC, Houwen RH, Klomp LW, van de Graaf SF.
    Hepatology; 2010 Jan 21; 51(1):286-96. PubMed ID: 19918981
    [Abstract] [Full Text] [Related]

  • 12. FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte.
    Eppens EF, van Mil SW, de Vree JM, Mok KS, Juijn JA, Oude Elferink RP, Berger R, Houwen RH, Klomp LW.
    J Hepatol; 2001 Oct 21; 35(4):436-43. PubMed ID: 11682026
    [Abstract] [Full Text] [Related]

  • 13. Advances in familial and congenital cholestatic diseases. Clinical and diagnostic implications.
    Colombo C, Okolicsanyi L, Strazzabosco M.
    Dig Liver Dis; 2000 Mar 21; 32(2):152-9. PubMed ID: 10975791
    [Abstract] [Full Text] [Related]

  • 14. Progressive familial intrahepatic cholestasis.
    Cavestro GM, Frulloni L, Cerati E, Ribeiro LA, Corrente V, Sianesi M, Franzè A, Di Mario F.
    Acta Biomed; 2002 Mar 21; 73(3-4):53-6. PubMed ID: 12596388
    [Abstract] [Full Text] [Related]

  • 15. Progressive familial intrahepatic cholestasis: genetic disorders of biliary transporters.
    Harris MJ, Le Couteur DG, Arias IM.
    J Gastroenterol Hepatol; 2005 Jun 21; 20(6):807-17. PubMed ID: 15946126
    [Abstract] [Full Text] [Related]

  • 16. Normal pancreatic secretion in children with progressive familial intrahepatic cholestasis type 1.
    Walkowiak J, Jankowska I, Pawlowska J, Bull L, Herzig KH, Socha J.
    Scand J Gastroenterol; 2006 Dec 21; 41(12):1480-3. PubMed ID: 17101580
    [Abstract] [Full Text] [Related]

  • 17. Characterization of urinary bile acids in a pediatric BRIC-1 patient: effect of rifampicin treatment.
    Mizuochi T, Kimura A, Tanaka A, Muto A, Nittono H, Seki Y, Takahashi T, Kurosawa T, Kage M, Takikawa H, Matsuishi T.
    Clin Chim Acta; 2012 Aug 16; 413(15-16):1301-4. PubMed ID: 22525741
    [Abstract] [Full Text] [Related]

  • 18. Successful treatment with colestimide for a bout of cholestasis in a Japanese patient with benign recurrent intrahepatic cholestasis caused by ATP8B1 mutation.
    Uegaki S, Tanaka A, Mori Y, Kodama H, Fukusato T, Takikawa H.
    Intern Med; 2008 Aug 16; 47(7):599-602. PubMed ID: 18379143
    [Abstract] [Full Text] [Related]

  • 19. A missense mutation in FIC1 is associated with greenland familial cholestasis.
    Klomp LW, Bull LN, Knisely AS, van Der Doelen MA, Juijn JA, Berger R, Forget S, Nielsen IM, Eiberg H, Houwen RH.
    Hepatology; 2000 Dec 16; 32(6):1337-41. PubMed ID: 11093741
    [Abstract] [Full Text] [Related]

  • 20. Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity.
    Tygstrup N, Steig BA, Juijn JA, Bull LN, Houwen RH.
    Hepatology; 1999 Feb 16; 29(2):506-8. PubMed ID: 9918928
    [Abstract] [Full Text] [Related]

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