BackgroundABCB4 functions as a phosphatidylcholine translocater, flipping phosphatidylcholine across hepatocyte canalicular membranes into biliary canaliculi. In people, ABCB4 gene mutations are associated with several disease syndromes including intrahepatic cholestasis of ...

posterior probability) and sequences from human (ABCB1, ABCB4, ABCB5, and ABCB11) and the bivalve_000535.3; ABCB4, NP_000434.1; ABCB5, NP_848654.3; ABCB6, NP_005680.1; ABCB7, NP_004290.2; ABCB8, NP). ThPgpisoform 2 and CgPgpisoform1 clusters with human ABCB1, ABCB4, ABCB5 ...

The ABCB gene subfamily of ABC (ATP-binding cassette) transporters is responsible for transporting a wide spectrum of molecules including peptides, iron, bile salts, drugs, and phospholipids. In humans, ABCB4 appears to be exclusively expressed on the apical membrane of hepatocytes where it translocates phosphatidylcholine from the ...

Phase separation of cholesterol crystals from supersaturated bile is still considered the key event in cholesterol gallstone formation. In this review, we will first provide a basal framework of the interactions between the sterol, bile salts and phospholipids in aqueous solutions and then summarize new developments. The hepatocytic apical membrane harbours specific transport proteins for these ...

BACKGROUND & AIMS: Progressive familial intrahepatic cholestasis (PFIC) can be caused by mutations in ABCB4 or ATP8B1; each encodes a protein that translocates phospholipids, but in opposite directions. ABCB4 flops phosphatidylcholine from the inner to the outer leaflet, where it is extracted by bile salts. ATP8B1, in complex with ...

Bile formation at the canalicular membrane is a delicate process. This is illustrated by inherited liver diseases due to mutations in ATP8B1, ABCB11, ABCB4, ABCC2 and ABCG5/8, all encoding hepatocanalicular transporters. Effective treatment of these canalicular transport defects is a clinical and scientific challenge that is still ...

Liver disorders occurring during pregnancy may be specifically pregnancy-related, or may be due to an intercurrent or chronic liver disease, which may present in anyone, pregnant or not. This review focuses on the liver diseases unique to pregnancy. Hyperemesis gravidarum, which occurs during early pregnancy, may be associated with liver dysfunction. Intrahepatic cholestasis of pregnancy typically ...

in the bile salt export pump BSEP does not change taurocholate transport function in vitro;6 homozygous V444A, Meier PJ, Pauli- Magnus C (2007) Mutations and polymorphisms in the bile salt export pump diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). Drug Metab Dispos 34

Introduction: Multidrug resistance 3 (MDR3) P-glycoprotein is a lipid floppase that is encoded by the ATP-binding cassette sub-family B member 4 (ABCB4) gene and plays a crucial role in proper bile formation by transporting phosphatidylcholine across the canalicular plasma membrane of the hepatocyte into bile. The relevance of this ...

... breast cancer harbor germline mutation in the ... gene for each mutation identified. ... Descriptors : *MUTATIONS, *BREAST CANCER, PREDICTIONS ...

The invention is related to ataxia-telangiectasia, specifically, mutations in the ataxia-telangiectasia mutated gene.

... hypothesis that a germline mutations in the procollagen genes or specific allelic patterns in other candidate genes confer genetic susceptibility to SF ...

... Title : Mutation Analysis in the NF2 Gene. ... To facilitate the search for mutations in neurofibromatosis 2 ... the exon-intron boundaries for the NF2 gene. ...

... implication here is that a recessive mutation in the ... numbers of genes on a single gene basis ... to use this technology to search for mutations at 17p13 ...

... to improve mutation detection in the neurofibromatosis 1 gene (NF1), to determine the spectrum and significance of germline NF1 mutations in ...

... elevated spontaneous mutation rates and ... DEOXYRIBONUCLEIC ACIDS, *MUTATIONS, *POLYMORPHISM ... Categories : GENETIC ENGINEERING ...