|
Liver diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
This review summarizes the current perception about structure, function, genetic variation, and regulation of NTCP and BSEP, highlights the effects of their defects in some hepatic disorders, and discusses the application prospect of new transcriptional activators in liver diseases.
|
31258056 |
2019 |
|
Liver diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Bile acid imbalance causes progressive familial intrahepatic cholestasis type 2 (PFIC2) or type 3 (PFIC3), severe liver diseases associated with genetic defects in the biliary bile acid transporter bile salt export pump (BSEP; ABCB11) or phosphatidylcholine transporter multidrug resistance protein 3 (MDR3; ABCB4), respectively.
|
30416103 |
2019 |
|
Liver diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Genetic defects causing dysfunction in bile salt export pump (BSEP/ABCB11) lead to liver diseases.
|
29412511 |
2018 |
|
Liver diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A range of human diseases is associated with the malfunction of BSEP, including fatal hereditary liver disorders and mild cholestatic conditions.
|
26573700 |
2016 |
|
Liver diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease.
|
24375397 |
2014 |
|
Liver diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The molecular basis of BSEP-associated liver disease in a sibling pair was characterized by immunostaining, gene sequencing, bile salt analysis and recombinant expression in mammalian cells and yeast for localization and in vitro activity studies respectively.
|
23758865 |
2013 |
|
Liver diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The role of BSEP in canine and feline liver diseases has not been studied in detail, but the same mechanism of inhibition by drugs as in humans could play a role in veterinary medicine.
|
24359682 |
2013 |
|
Liver diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Increased serum bile salt levels have been associated to a single-nucleotide polymorphism in the bile salt export pump (BSEP; ABCB11) in several acquired cholestatic liver diseases but there is little evidence in alcoholic liver disease (ALD).
|
22522591 |
2012 |
|
Liver diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Here we describe a spectrum of BSEP-dependent effects on the course of liver diseases, and present two mutations that differentially affect total bile acid output and the biliary bile acid profile.
|
21691112 |
2011 |
|
Liver diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a severe autosomal recessive liver disorder of childhood that can cause cholestasis and progress to end-stage liver disease.
|
19845854 |
2010 |
|
Liver diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Human BSEP (ABCB11) mutations are the molecular basis for at least three clinical forms of liver disease, progressive familial intrahepatic cholestasis type 2 (PFIC2), benign recurrent intrahepatic cholestasis type 2 (BRIC2), and intrahepatic cholestasis of pregnancy (ICP).
|
17855769 |
2007 |