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Volumn 46, Issue 1, 2008, Pages 48-53

Recurrent intrahepatic cholestasis of pregnancy and chain-like choledocholitiasis in a female patient with stop codon in the ABDC4-gene of the hepatobiliary phospholipid transporter;Rezidivierende schwangerschaftscholestase und perlenschnurartige choledocholithiasis bei einer patientin mit stoppcodon im ABCB4-gen des hepatischen phospholipidtransporters

Author keywords

Choledocholithiasis; Intrahepatic cholestasis of pregnancy; Molecular genetics; Obstetric cholestasis; Phospholipids

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER B4; GAMMA GLUTAMYLTRANSFERASE; PHOSPHOLIPID; UNCLASSIFIED DRUG; URSODEOXYCHOLIC ACID; ABCB11 PROTEIN, HUMAN;

EID: 39349104699     PISSN: 00442771     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-963422     Document Type: Article
Times cited : (13)

References (28)
  • 1
    • 17644443114 scopus 로고    scopus 로고
    • Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: Evidence for a defect in protein trafficking
    • Dixon PH, Weerasekera N, Linton KJ et al. Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking. Hum Mol Genet 2000; 9: 1209-1217
    • (2000) Hum Mol Genet , vol.9 , pp. 1209-1217
    • Dixon, P.H.1    Weerasekera, N.2    Linton, K.J.3
  • 2
    • 0040284751 scopus 로고    scopus 로고
    • Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis
    • De Vree JM, Jacquemin E, Sturm E et al. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci USA 1998; 95: 282-287
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 282-287
    • De Vree, J.M.1    Jacquemin, E.2    Sturm, E.3
  • 3
    • 10744220281 scopus 로고    scopus 로고
    • Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy
    • Pauli-Magnus C, Lang T, Meier Y et al. Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. Pharmacogenetics 2004; 14: 91-102
    • (2004) Pharmacogenetics , vol.14 , pp. 91-102
    • Pauli-Magnus, C.1    Lang, T.2    Meier, Y.3
  • 4
    • 33745901941 scopus 로고    scopus 로고
    • Interindividual variability of canalicular ATP-binding cassette (ABC)-transporter expression in human liver
    • Meier Y, Pauli-Magnus C, Zanger UM et al. Interindividual variability of canalicular ATP-binding cassette (ABC)-transporter expression in human liver. Hepatology 2006; 44: 62-74
    • (2006) Hepatology , vol.44 , pp. 62-74
    • Meier, Y.1    Pauli-Magnus, C.2    Zanger, U.M.3
  • 5
    • 33746537974 scopus 로고    scopus 로고
    • Combined mutations of canalicular transporter porteins cause severe intrahepatic cholestasis of pregnancy
    • Keitel V, Vogt C, Häussinger D et al. Combined mutations of canalicular transporter porteins cause severe intrahepatic cholestasis of pregnancy. Gastroenterology 2006; 131: 624-629
    • (2006) Gastroenterology , vol.131 , pp. 624-629
    • Keitel, V.1    Vogt, C.2    Häussinger, D.3
  • 6
    • 0033651377 scopus 로고    scopus 로고
    • Intrahepatic cholestasis of pregnancy: Molecular pathogenesis, diagnosis and therapeutic management
    • Lammert F, Marschall HU, Glantz A et al. Intrahepatic cholestasis of pregnancy: molecular pathogenesis, diagnosis and therapeutic management. J Hepatol 2000; 33: 1012-1021
    • (2000) J Hepatol , vol.33 , pp. 1012-1021
    • Lammert, F.1    Marschall, H.U.2    Glantz, A.3
  • 7
    • 33847064667 scopus 로고    scopus 로고
    • MDR3 (ABCB4) defects: A paradigm for the genetics of adult cholestatic syndromes
    • Trauner M, Fickert P, Wagner M. MDR3 (ABCB4) defects: a paradigm for the genetics of adult cholestatic syndromes. Semin Liver Dis 2007; 27: 77-98
    • (2007) Semin Liver Dis , vol.27 , pp. 77-98
    • Trauner, M.1    Fickert, P.2    Wagner, M.3
  • 8
    • 0030853815 scopus 로고    scopus 로고
    • Intrahepatic cholestasis of pregnancy: A French prospective study
    • Bacq Y, Sapey T, Brechot MC et al. Intrahepatic cholestasis of pregnancy: a French prospective study. Hepatology 1997; 26: 358-364
    • (1997) Hepatology , vol.26 , pp. 358-364
    • Bacq, Y.1    Sapey, T.2    Brechot, M.C.3
  • 9
    • 3343001802 scopus 로고    scopus 로고
    • Diagnosis and therapy of intrahepatic cholestasis of pregnancy
    • Paus TC, Schneider G, van de Vondel P et al. Diagnosis and therapy of intrahepatic cholestasis of pregnancy. Z Gastroenterol 2004; 42: 623-628
    • (2004) Z Gastroenterol , vol.42 , pp. 623-628
    • Paus, T.C.1    Schneider, G.2    van de Vondel, P.3
  • 10
    • 0033023251 scopus 로고    scopus 로고
    • Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy
    • Jacquemin E, Cresteil D, Manouvrier S et al. Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy. Lancet 1999; 353: 210-211
    • (1999) Lancet , vol.353 , pp. 210-211
    • Jacquemin, E.1    Cresteil, D.2    Manouvrier, S.3
  • 11
    • 0037362523 scopus 로고    scopus 로고
    • A second heterozygous MDR3 non-sense mutation associated with intrahepatic cholestasis of pregnancy
    • Gendrot C, Bacq Y, Brechot MC et al. A second heterozygous MDR3 non-sense mutation associated with intrahepatic cholestasis of pregnancy. J Med Genet 2003; 40: e32
    • (2003) J Med Genet , vol.40
    • Gendrot, C.1    Bacq, Y.2    Brechot, M.C.3
  • 12
    • 0042278551 scopus 로고    scopus 로고
    • ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy
    • Müllenbach R, Linton KJ, Wiltshire S et al. ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy. J Med Genet 2003; 40: e70
    • (2003) J Med Genet , vol.40
    • Müllenbach, R.1    Linton, K.J.2    Wiltshire, S.3
  • 13
    • 0037379732 scopus 로고    scopus 로고
    • A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis
    • Lucena JF, Herrero JI, Quiroga J et al. A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis. Gastroenterology 2003; 124: 1037-1042
    • (2003) Gastroenterology , vol.124 , pp. 1037-1042
    • Lucena, J.F.1    Herrero, J.I.2    Quiroga, J.3
  • 14
    • 33847005118 scopus 로고    scopus 로고
    • Intrahepatic cholestasis of pregnancy: The severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene
    • Wasmuth HE, Glantz A, Keppeler H et al. Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene. Gut 2007; 65: 265-270
    • (2007) Gut , vol.65 , pp. 265-270
    • Wasmuth, H.E.1    Glantz, A.2    Keppeler, H.3
  • 15
    • 0035045719 scopus 로고    scopus 로고
    • The wide spectrum of multidrug resistance 3 deficiency: From neonatal cholestasis to cirrhosis of adulthood
    • Jacquemin E, de Vree JM, Cresteil D et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 2001; 120: 1448-1458
    • (2001) Gastroenterology , vol.120 , pp. 1448-1458
    • Jacquemin, E.1    de Vree, J.M.2    Cresteil, D.3
  • 16
    • 0035053975 scopus 로고    scopus 로고
    • MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis
    • Rosmorduc O, Hermelin B, Poupon R. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. Gastroenterology 2001; 120: 1459-1467
    • (2001) Gastroenterology , vol.120 , pp. 1459-1467
    • Rosmorduc, O.1    Hermelin, B.2    Poupon, R.3
  • 17
    • 0041665024 scopus 로고    scopus 로고
    • ABCB4 gene mutation-associated cholelithiasis in adults
    • Rosmorduc O, Hermelin B, Boelle PY et al. ABCB4 gene mutation-associated cholelithiasis in adults. Gastroenterology 2003; 125: 452-459
    • (2003) Gastroenterology , vol.125 , pp. 452-459
    • Rosmorduc, O.1    Hermelin, B.2    Boelle, P.Y.3
  • 18
    • 4043111379 scopus 로고    scopus 로고
    • Intrahepatic cholestasis of pregnancy: Relationships between bile acid levels and fetal complication rates
    • Glantz A, Marschall HU, Mattsson LA. Intrahepatic cholestasis of pregnancy: relationships between bile acid levels and fetal complication rates. Hepatology 2004; 40: 467-474
    • (2004) Hepatology , vol.40 , pp. 467-474
    • Glantz, A.1    Marschall, H.U.2    Mattsson, L.A.3
  • 19
    • 33645982862 scopus 로고    scopus 로고
    • Intrahepatic cholestasis of pregnancy as an indicator of hepatic and biliary diseases: A population-based study
    • Ropponen A, Sund R, Riikonen S et al. Intrahepatic cholestasis of pregnancy as an indicator of hepatic and biliary diseases: a population-based study. Hepatology 2006; 43: 723-728
    • (2006) Hepatology , vol.43 , pp. 723-728
    • Ropponen, A.1    Sund, R.2    Riikonen, S.3
  • 20
    • 33846463378 scopus 로고    scopus 로고
    • Linkage between a new splicing site mutation in the MDR 3 alias ABCB4 gene and introhepatic cholestasis of pregnancy
    • Schneider G, Pavs TC, Kullak-Ublick GA et al. Linkage between a new splicing site mutation in the MDR 3 alias ABCB4 gene and introhepatic cholestasis of pregnancy. Hepatology 2007; 45: 150-158
    • (2007) Hepatology , vol.45 , pp. 150-158
    • Schneider, G.1    Pavs, T.C.2    Kullak-Ublick, G.A.3
  • 21
    • 0034110028 scopus 로고    scopus 로고
    • Effect of maternal cholestasis on bile acid transfer across the rat placenta-maternal liver tandem
    • Macias RI, Pascual MJ, Bravo A et al. Effect of maternal cholestasis on bile acid transfer across the rat placenta-maternal liver tandem. Hepatology 2000; 31: 975-983
    • (2000) Hepatology , vol.31 , pp. 975-983
    • Macias, R.I.1    Pascual, M.J.2    Bravo, A.3
  • 22
    • 4143073631 scopus 로고    scopus 로고
    • Benign recurrent intrahepatic cholestasis is caused by mutations in ABCB11
    • Van Mil SW, van der Woerd WL, van der Brugge G et al. Benign recurrent intrahepatic cholestasis is caused by mutations in ABCB11. Gastroenterology 2004; 127: 379-384
    • (2004) Gastroenterology , vol.127 , pp. 379-384
    • Van Mil, S.W.1    van der Woerd, W.L.2    van der Brugge, G.3
  • 23
    • 0032212897 scopus 로고    scopus 로고
    • Class III P-glycoproteins mediate the formation of lipoprotein X in the mouse
    • Oude Elferink RP, Ottenhoff R, van Marle J et al. Class III P-glycoproteins mediate the formation of lipoprotein X in the mouse. J Clin Invest 1998; 102: 1749-57
    • (1998) J Clin Invest , vol.102 , pp. 1749-1757
    • Oude Elferink, R.P.1    Ottenhoff, R.2    van Marle, J.3
  • 24
    • 0025790048 scopus 로고
    • Vasoconstrictive effect of bile acids on isolated human placental chorionic veins
    • Sepulveda WH, Gonzalez C, Cruz MA et al. Vasoconstrictive effect of bile acids on isolated human placental chorionic veins. Eur J Obstet Gynecol Reprod Biol 1991; 42: 211-215
    • (1991) Eur J Obstet Gynecol Reprod Biol , vol.42 , pp. 211-215
    • Sepulveda, W.H.1    Gonzalez, C.2    Cruz, M.A.3
  • 25
    • 0035054627 scopus 로고    scopus 로고
    • The bile acid taurocholate impairs rat cardiomyocyte function: A proposed mechanisms for intrauterine fetal death in obstetric cholestasis
    • Williamson C, Gorelik J, Eaton BM et al. The bile acid taurocholate impairs rat cardiomyocyte function: a proposed mechanisms for intrauterine fetal death in obstetric cholestasis. Clin Sci 2001; 100: 363-369
    • (2001) Clin Sci , vol.100 , pp. 363-369
    • Williamson, C.1    Gorelik, J.2    Eaton, B.M.3
  • 27
    • 32944463445 scopus 로고    scopus 로고
    • Intrahepatic cholestasis of pregnancy: A randomized controlled trial comparing dexamethasone and ursodeoxycholic acid
    • Glantz A, Marschall HU, Lammert F et al. Intrahepatic cholestasis of pregnancy: a randomized controlled trial comparing dexamethasone and ursodeoxycholic acid. Hepatology 2005; 42: 1399-1405
    • (2005) Hepatology , vol.42 , pp. 1399-1405
    • Glantz, A.1    Marschall, H.U.2    Lammert, F.3
  • 28
    • 24144477934 scopus 로고    scopus 로고
    • Efficacy and safety of ursodeoxycholic acid versus cholestyramine in intrahepatic cholestasis of pregnancy
    • Kondrackiene J, Beuers U, Kupcinskas L. Efficacy and safety of ursodeoxycholic acid versus cholestyramine in intrahepatic cholestasis of pregnancy. Gastroenterology 2006; 129: 894-901
    • (2006) Gastroenterology , vol.129 , pp. 894-901
    • Kondrackiene, J.1    Beuers, U.2    Kupcinskas, L.3


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