MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis

Homozygous disruption of the murine MDR2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease

Jasper Smit, Alfred H. Schinkel, Ronald P.J. Oude Elferink et al. · Cell · 1993 · 1.5K citations

Medicine, Molecular Genetics, Pharmacology +16

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Linheng Li, Ian D. Krantz, Yu Deng et al. · Nature Genetics · 1997 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +9

Critical tables for calculating the cholesterol saturation of native bile.

M C Carey · Journal of Lipid Research · 1978 · 798 citations · Full text

Life Sciences, Biochemistry, Physiology +9

Mutations in the <i>MDR</i> 3 gene cause progressive familial intrahepatic cholestasis

J. Marleen L. de Vree, Emmanuel Jacquemin, Ekkehard Sturm et al. · Proceedings of the National Academy of Sciences · 1998 · 742 citations · Full text

Medicine, Molecular Biology, Molecular Genetics +17

Hepatology. A Textbook of Liver Disease

Annals of Internal Medicine · 1990 · 624 citations

Medicine, Biochemistry, Pathology +17