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ABCB4 gene mutations and primary sclerosing cholangitis. 2004

Olivier Rosmorduc, and Brigitte Hermelin, and Pierre-Yves Boelle, and Renee Eugenie Poupon, and Raoul Poupon, and Olivier Chazouillères

UI MeSH Term Description Entries
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia
D015209 Cholangitis, Sclerosing Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS. Cholangiitis, Sclerosing,Cholangitis, Primary Sclerosing,Primary Sclerosing Cholangitis,Sclerosing Cholangitis,Cholangiitides, Sclerosing,Cholangitides, Primary Sclerosing,Cholangitides, Sclerosing,Primary Sclerosing Cholangitides,Sclerosing Cholangiitides,Sclerosing Cholangiitis,Sclerosing Cholangitides,Sclerosing Cholangitides, Primary,Sclerosing Cholangitis, Primary
D017354 Point Mutation A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. Mutation, Point,Mutations, Point,Point Mutations
D018435 ATP Binding Cassette Transporter, Subfamily B A subfamily of transmembrane proteins from the superfamily of ATP-BINDING CASSETTE TRANSPORTERS that are closely related in sequence to ATP BINDING CASSETTE TRANSPORTER, SUBFAMILY B, MEMBER 1. When overexpressed, they function as ATP-dependent efflux pumps able to extrude lipophilic drugs (especially ANTINEOPLASTIC AGENTS) from cells, causing multidrug resistance (DRUG RESISTANCE, MULTIPLE). Although ATP BINDING CASSETTE TRANSPORTER, SUBFAMILY B share functional similarities to MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS they are two distinct subclasses of ATP-BINDING CASSETTE TRANSPORTERS, and have little sequence homology. Multidrug Resistance Proteins,P-Glycoproteins,ATP Binding Cassette Transporter, Sub-Family B,ATP-Binding Cassette, Sub-Family B Proteins,ATP Binding Cassette Transporter, Sub Family B,ATP Binding Cassette, Sub Family B Proteins,P Glycoproteins
D018528 ATP-Binding Cassette Transporters A family of MEMBRANE TRANSPORT PROTEINS that require ATP hydrolysis for the transport of substrates across membranes. The protein family derives its name from the ATP-binding domain found on the protein. ABC Transporter,ABC Transporters,ATP-Binding Cassette Transporter,ATP Binding Cassette Transporter,ATP Binding Cassette Transporters,Cassette Transporter, ATP-Binding,Transporter, ABC,Transporter, ATP-Binding Cassette,Transporters, ABC,Transporters, ATP-Binding Cassette

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