Genetic defects in hepatocanalicular transport

Seminars in Liver Disease

Volumn 20, Issue 3, 2000, Pages 365-372

  Thompson, R ^a   Jansen, P L M ^a  

^a KING S COLLEGE HOSPITAL   (United Kingdom)

Author keywords

Benign recurrent intrahepatic cholestasis; Dubin Johnson syndrome; Intrahepatic cholestasis of pregnancy; Progressive familial intrahepatic cholestasis

Indexed keywords

ABC TRANSPORTER; BILE ACID; BILIRUBIN; CHOLESTEROL; GLYCOPROTEIN P; PHOSPHOLIPID;

BILE FLOW; DISEASE COURSE; DUBIN JOHNSON SYNDROME; GENE CASSETTE; GENETIC DISORDER; HUMAN; INTRAHEPATIC BILE DUCT; INTRAHEPATIC CHOLESTASIS; MEMBRANE TRANSPORT; NONHUMAN; PRIORITY JOURNAL; REVIEW; TRANSPORT KINETICS;

EID: 0033753524     PISSN: 02728087     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2000-9384     Document Type: Review

References (28)

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4. Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred
5. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
6. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis
7. Identification of a sister gene to P-glycoprotein
8. The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver
9. Taxol resistance mediated by transfection of the liver-specific sister gene of P-glycoprotein
10. Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24
11. Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region
12. Genome screening by searching for shared segments: Mapping a gene for benign recurrent intrahepatic cholestasis
13. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
14. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): Evidence for heterogeneity
15. A subfamily of P-type ATPases with aminophospholipid transporting activity
16. Cloning and tissue distribution of the rat homologue of the human gene involved in familial intrahepatic cholestasis type 1
17. ATP-dependent aminophospholipid translocase activity in rat canalicular membrane vesicles and its relationship to FICl
18. Rat cholangiocytes absorb bile acids at their apical domain via the ileal sodium-dependent bile acid transporter
19. Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis
20. Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease
21. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis
22. Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: Evidence for a defect in protein trafficking
23. Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy
24. Hereditary chronic conjugated hyperbilirubinemia in mutant rats caused by defective hepatic anion transport
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26. Characterization of the human multidrug resistance protein isoform MRP3 localized to the basolateral hepatocyte membrane
27. Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome
28. Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome