SEARCH

SEARCH BY CITATION

References

  • 1
    Lincke CR, Smit JJ, van der Velde-Koerts T, Borst P. Structure of the human MDR3 gene and physical mapping of the human MDR locus. J Biol Chem 1991;266:5303-5310.
  • 2
    Oude Elferink RP, Paulusma CC. Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein). Pflugers Arch 2007;453:601-610.
  • 3
    Jacquemin E, De Vree JM, Cresteil D, Sokal EM, Sturm E, Dumont M, et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 2001;120:1448-1458.
  • 4
    Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. Semin Liver Dis 2010;30:134-146.
  • 5
    Rosmorduc O, Hermelin B, Poupon R. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. Gastroenterology 2001;120:1459-1467.
  • 6
    Rosmorduc O, Hermelin B, Boelle PY, Parc R, Taboury J, Poupon R. ABCB4 gene mutation-associated cholelithiasis in adults. Gastroenterology 2003;125:452-459.
  • 7
    Erlinger S. Low phospholipid-associated cholestasis and cholelithiasis. Clin Res Hepatol Gastroenterol 2012;36(Suppl 1):S36-S40.
  • 8
    Jacquemin E, Cresteil D, Manouvrier S, Boute O, Hadchouel M. Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy. Lancet 1999;353:210-211.
  • 9
    Wasmuth HE, Glantz A, Keppeler H, Simon E, Bartz C, Rath W, et al. Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene. Gut 2007;56:265-270.
  • 10
    Bacq Y, Gendrot C, Perrotin F, Lefrou L, Chretien S, Vie-Buret V, et al. ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy. J Med Genet 2009;46:711-715.
  • 11
    Bacq Y. Liver diseases unique to pregnancy: a 2010 update. Clin Res Hepatol Gastroenterol 2011;35:182-193.
  • 12
    Poupon R, Arrive L, Rosmorduc O. The cholangiographic features of severe forms of ABCB4/MDR3 deficiency-associated cholangiopathy in adults. Gastroenterol Clin Biol 2010;34:380-387.
  • 13
    Kano M, Shoda J, Sumazaki R, Oda K, Nimura Y, Tanaka N. Mutations identified in the human multidrug resistance P-glycoprotein 3 (ABCB4) gene in patients with primary hepatolithiasis. Hepatol Res 2004;29:160-166.
  • 14
    Gotthardt D, Runz H, Keitel V, Fischer C, Flechtenmacher C, Wirtenberger M, et al. A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults. Hepatology 2008;48:1157-1166.
  • 15
    Muehlenberg K, Wiedmann K, Keppeler H, Sauerbruch T, Lammert F. [Recurrent intrahepatic cholestasis of pregnancy and chain-like choledocholithiasis in a female patient with stop codon in the ABDC4-gene of the hepatobiliary phospholipid transporter.] Z Gastroenterol 2008;46:48-53.
  • 16
    Ziol M, Barbu V, Rosmorduc O, Frassati-Biaggi A, Barget N, Hermelin B, et al. ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults. Gastroenterology 2008;135:131-141.
  • 17
    Denk GU, Bikker H, Lekanne Dit Deprez RH, Terpstra V, van der Loos C, Beuers U, et al. ABCB4 deficiency: A family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene. Hepatol Res 2010;40:937-941.
  • 18
    Poupon R, Barbu V, Chamouard P, Wendum D, Rosmorduc O, Housset C. Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3. Liver Int 2010;30:327-331.
  • 19
    Kubitz R, Bode J, Erhardt A, Graf D, Kircheis G, Muller-Stover I, et al. Cholestatic liver diseases from child to adult: the diversity of MDR3 disease. Z Gastroenterol 2011;49:728-736.
  • 20
    Wendum D, Barbu V, Rosmorduc O, Arrive L, Flejou JF, Poupon R. Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations. Virchows Arch 2012;460:291-298.
  • 21
    Tazuma S. Gallstone disease: epidemiology, pathogenesis, and classification of biliary stones (common bile duct and intrahepatic). Best Pract Res Clin Gastroenterol 2006;20:1075-1083.
  • 22
    Shoda J, Tanaka N, Osuga T. Hepatolithiasis—epidemiology and pathogenesis update. Front Biosci 2003;8:e398-409.
  • 23
    Pasmant E, Goussard P, Baranes L, Laurendeau I, Quentin S, Ponsot P, et al. First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis. Eur J Hum Genet 2012;20:277-282.
  • 24
    Maringhini A, Ciambra M, Baccelliere P, Raimondo M, Orlando A, Tine F, et al. Biliary sludge and gallstones in pregnancy: incidence, risk factors, and natural history. Ann Intern Med 1993;119:116-120.
  • 25
    Valdivieso V, Covarrubias C, Siegel F, Cruz F. Pregnancy and cholelithiasis: pathogenesis and natural course of gallstones diagnosed in early puerperium. Hepatology 1993;17:1-4.
  • 26
    Poupon R. Intrahepatic cholestasis of pregnancy: from bedside to bench to bedside. Liver Int 2005;25:467-468.
  • 27
    Abu-Hayyeh S, Papacleovoulou G, Lovgren-Sandblom A, Tahir M, Oduwole O, Jamaludin NA, et al. Intrahepatic cholestasis of pregnancy levels of sulfated progesterone metabolites inhibit FXR resulting in a pro-cholestatic phenotype. Hepatology 2013;57:716-726.
  • 28
    Van Mil SW, Milona A, Dixon PH, Mullenbach R, Geenes VL, Chambers J, et al. Functional variants of the central bile acid sensor FXR identified in intrahepatic cholestasis of pregnancy. Gastroenterology 2007;133:507-516.
  • 29
    Degiorgio D, Colombo C, Seia M, Porcaro L, Costantino L, Zazzeron L, et al. Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3). Eur J Hum Genet 2007;15:1230-1238.
  • 30
    Floreani A, Carderi I, Paternoster D, Soardo G, Azzaroli F, Esposito W, et al. Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy. Dig Liver Dis 2008;40:366-370.
  • 31
    Lang T, Haberl M, Jung D, Drescher A, Schlagenhaufer R, Keil A, et al. Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). Drug Metab Dispos 2006;34:1582-1599.