[PDF][PDF] A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin‐Johnson syndrome

CC Paulusma, M Kool, PJ Bosma, GL Scheffer… - …, 1997 - Wiley Online Library
Abstract The human Dubin‐Johnson syndrome (DJS) is a rare autosomal recessive liver
disorder characterized by chronic conjugated hyperbilirubinemia. Patients have impaired …

The canalicular multispecific organic anion transporter and conjugated hyperbilirubinemia in rat and man

CC Paulusma, RPJO Elferink - Journal of molecular medicine, 1997 - Springer
Abstract The human Dubin-Johnson syndrome is an autosomal recessive liver disease
characterized by a chronic conjugated hyperbilirubinemia. Patients have impaired …

[PDF][PDF] Genomic structure of the canalicular multispecific organic anion–transporter gene (MRP2/cMOAT) and mutations in the ATP-binding–cassette region in Dubin …

S Toh, M Wada, T Uchiumi, A Inokuchi, Y Makino… - The American Journal of …, 1999 - cell.com
Dubin-Johnson syndrome (DJS) is an autosomal recessive disease characterized by
conjugated hyperbilirubinemia. Previous studies of the defects in the human canalicular …

Mutations in the Canalicular Multispecific Organic Anion Transporter (cMOAT) Gene, a Novel ABC Transporter, in Patients with Hyperbilirubinemia II/Dubin-Johnson …

M Wada, S Toh, K Taniguchi… - Human molecular …, 1998 - academic.oup.com
Members of the ATP-binding cassette (ABC) transporter superfamily are mutated to cause
diseases that include cystic fibrosis, hyperinsulinemia, adrenoleukodys-trophy, Stargardt …

Impaired protein maturation of the conjugate export pump multidrug resistance protein 2 as a consequence of a deletion mutation in Dubin–Johnson syndrome

V Keitel, J Kartenbeck, AT Nies, H Spring, M Brom… - Hepatology, 2000 - journals.lww.com
Abstract The Dubin–Johnson syndrome is an inherited disorder characterized by conjugated
hyperbilirubinemia. The deficient hepatobiliary transport of anionic conjugates is caused by …

Molecular cloning of canalicular multispecific organic anion transporter defective in EHBR

K Ito, H Suzuki, T Hirohashi, K Kume… - American Journal …, 1997 - journals.physiology.org
Several organic anions are excreted into the bile via a canalicular multispecific organic
anion transporter (cMOAT), which is hereditarily defective in mutant rats, such as the Eisai …

[PDF][PDF] Absence of the canalicular isoform of the MRP gene–encoded conjugate export pump from the hepatocytes in Dubin‐Johnson syndrome

J Kartenbeck, U Leuschner, R Mayer, D Keppler - Hepatology, 1996 - Wiley Online Library
Abstract The Dubin‐Johnson syndrome is characterized by an inherited defect in the
secretion of amphiphilic anionic conjugates from hepatocytes into the bile. We have recently …

Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene

CC Paulusma, PJ Bosma, GJR Zaman, CTM Bakker… - Science, 1996 - science.org
The human Dubin-Johnson syndrome and its animal model, the TR− rat, are characterized
by a chronic conjugated hyperbilirubinemia. TR− rats are defective in the canalicular …

Defective ATP-dependent bile canalicular transport of organic anions in mutant (TR-) rats with conjugated hyperbilirubinemia.

T Kitamura, P Jansen, C Hardenbrook… - Proceedings of the …, 1990 - National Acad Sciences
TR-mutant Wistar rats secrete markedly fewer organic anions other than bile acids from the
liver into the bile than do control rats. Fluorescence-image analysis of isolated normal and …

A common Dubin-Johnson syndrome mutation impairs protein maturation and transport activity of MRP2 (ABCC2)

V Keitel, AT Nies, M Brom… - American Journal …, 2003 - journals.physiology.org
Absence of a functional multidrug resistance protein 2 (MRP2; symbol ABCC2) from the
hepatocyte canalicular membrane is the molecular basis of Dubin-Johnson syndrome, an …