Transporters and drug therapy: implications for drug disposition and disease

RH Ho, RB Kim - Clinical Pharmacology & Therapeutics, 2005 - Wiley Online Library
The efficacy of drug therapy results from the complex interplay of multiple processes that
govern drug disposition and response. Most studies to date have focused on the contribution …

Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases

E Jacquemin - Seminars in liver disease, 2001 - thieme-connect.com
Class III multidrug resistance P-glycoproteins, mdr2 in mice and MDR3 in humans, are
canalicular phospholipid translocators involved in biliary phospholipid (phosphatidylcholine) …

Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis

JML De Vree, E Jacquemin, E Sturm… - Proceedings of the …, 1998 - National Acad Sciences
Class III multidrug resistance (MDR) P-glycoproteins (P-gp), mdr2 in mice and MDR3 in
man, mediate the translocation of phosphatidylcholine across the canalicular membrane of …

The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood

E Jacquemin, O Bernard, M Hadchouel, D Cresteil… - Gastroenterology, 2001 - Elsevier
Background & Aims: We have specified the features of progressive familial intrahepatic
cholestasis type 3 and investigated in 31 patients whether a defect of the multidrug …

Guideline for the evaluation of cholestatic jaundice in infants: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and …

V Moyer, DK Freese, PF Whitington… - Journal of pediatric …, 2004 - journals.lww.com
For the primary care provider, cholestatic jaundice in infancy, defined as jaundice caused by
an elevated conjugated bilirubin, is an uncommon but potentially serious problem that …

Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking

PH Dixon, N Weerasekera, KJ Linton… - Human molecular …, 2000 - academic.oup.com
Intrahepatic cholestasis of pregnancy (ICP) is a liver disease of pregnancy with serious
consequences for the mother and fetus. Two pedigrees have been reported with ICP in the …

[PDF][PDF] Defect of multidrug‐resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis

J Deleuze, E Jacquemin, C Dubuisson, D Cresteil… - …, 1996 - Wiley Online Library
Disruption of the murine mdr2 (multidrug‐resistance) gene, which encodes a
phosphatidylcholine flippase, leads to a hepatic disorder because of loss of biliary …

Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis

E Jacquemin, D Hermans, A Myara, D Habes… - Hepatology, 1997 - journals.lww.com
Progressive familial intrahepatic cholestasis (PFIC) is a lethal inherited childhood
cholestasis of hepatocellular origin. Different subtypes of PFIC have been described …

Clinical and biochemical findings in progressive familial intrahepatic cholestasis

PF Whitington, DK Freese, EM Alonso… - Journal of pediatric …, 1994 - Wiley Online Library
SummaryThe clinical findings in 33 patients with progressive familial intrahepatic
cholestasis (PFIC) are presented. Symptoms developed almost invariably before 6 months …

Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy

WL van der Woerd, SWC van Mil… - Best practice & research …, 2010 - Elsevier
Progressive familial intrahepatic cholestasis (PFIC) type 1, 2 and 3 are due to mutations in
ATP8B1, ABCB11 and ABCB4, respectively. Each of these genes encodes a …