|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Reports have described recurrent cholestasis in PFIC2 patients after transplantation, and this has been associated with immunoglobulin G antibodies to BSEP.
|
24115678 |
2013 |
|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Serum bile acid profiles of our VPS33B/VIPAS39 mutated patients revealed similar changes to primary defect of bile salt export pump, among which those with isolated cholestasis phenotype had a higher level of total secondary bile acids than that with typical ARC phenotype, indicating the partial residual function of VPS33B.
|
31479177 |
2019 |
|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In addition, a polymorphism in the gene coding for BSEP has been identified as a potential susceptibility factor for acquired cholestasis.
|
20028269 |
2010 |
|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In summary, our data support a role of ABCB11 and ABCB4 mutations and polymorphisms in drug-induced cholestasis.
|
17264802 |
2007 |
|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis.
|
29507376 |
2018 |
|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BSEP are associated with cholestatic diseases such as progressive familial intrahepatic cholestasis type 2 (PFIC2), benign recurrent intrahepatic cholestasis type 2 (BRIC2), drug-induced cholestasis, and intrahepatic cholestasis of pregnancy.
|
23685087 |
2014 |
|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Six novel mutations (PKHD1: p.Thr777Met, p.Tyr2260Cys; ABCB11: p.Val1112Phe, c.611+1G > A, p.Gly628Trpfs*3 and NPC1: p.Glu391Lys) and two known pathogenic mutations were detected proving our multi gene panel for infantile cholestasis to be a sensitive and specific method overcoming the complexity of the phenotype-based, candidate gene approach.
|
25771912 |
2015 |
|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A common variant of BSEP (p.V444A) is now a well-established susceptibility factor for acquired cholestasis and recent evidence suggests that the same variant also influences the therapeutic response and disease progression of viral hepatitis C. Studies in large independent cohorts are now needed to confirm the relevance of p.V444A.
|
21320040 |
2011 |
|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Variations of the ABCB4 and ABCB11 genes affect the composition of bile and are associated with cholestasis and cholelithiasis.
|
25323205 |
2015 |
|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Genetic defects in ATP8B1 or ABCB11 account for the majority of cholestasis with low GGT.
|
27050426 |
2016 |
|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our data further support an involvement of MDR3 genetic variation in the pathogenesis of ICP, whereas analysis of BSEP sequence variation indicates that this gene is probably less important for the development of pregnancy-associated cholestasis.
|
15077010 |
2004 |
|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ABCB4 can result in progressive cholestatic disease, while mutations in ATP8B1 and ABCB11 can result both in episodic cholestasis, referred to as benign recurrent intrahepatic cholestasis (BRIC) type 1 and 2, as well as in progressive cholestatic disease.
|
20955958 |
2010 |
|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Estradiol-17β-D-glucuronide (E17G), through the activation of different signaling proteins, induces acute endocytic internalization of canalicular transporters in rat, including multidrug resistance-associated protein 2 (Abcc2) and bile salt export pump (Abcb11), generating cholestasis.
|
29090346 |
2018 |
|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our data support a role for the ABCB11 1331T>C polymorphism as a susceptibility factor for the development of estrogen-induced cholestasis, whereas no such association was found for ABCC2.
|
18176959 |
2008 |
|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Besides rare mutations that have been linked to drug-induced cholestasis, the common p.V444A polymorphism of BSEP has been identified as a potential risk factor.
|
20422497 |
2010 |
|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The overall hydrophobicity indices of total bile acids in both the ABCB11-mutated group (11.89 ± 1.07 min) and the undiagnosed cholestasis group (11.46 ± 1.07 min) were lower than those of healthy controls (13.69 ± 0.77 min) (both p < 0.005).
|
29412511 |
2018 |
|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, our findings show that CME is the mechanism responsible for the internalization of the canalicular transporters BSEP and MRP2 in E17G-induced cholestasis.
|
29355600 |
2018 |
|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Progressive familial intrahepatic cholestasis, type 2 (PFIC2), characterized by cholestasis in infancy that may progress to cirrhosis, is caused by mutation in ABCB11, which encodes bile salt export pump (BSEP).
|
21490445 |
2011 |
|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Wild-type (WT) and BSEP knockout (BSEP<sup>-/-</sup>) mice were subjected to common bile duct ligation (CBDL) or 3.5-diethoxycarbonyl-1.4-dihydrocollidine (DDC) feeding as models for cholestasis with biliary obstruction and bile duct injury. mRNA expression profile, serum biochemistry, liver histology, immunohistochemistry, hepatic hydroxyproline levels and BA composition as well as biliary pressure were assessed.
|
27593105 |
2017 |
|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography.
|
18692205 |
2008 |
|
Cholestasis
|
0.600 |
GeneticVariation
|
disease |
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 |
|
Cholestasis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Two Case Reports of Successful Treatment of Cholestasis With Steroids in Patients With PFIC-2.
|
25847799 |
2015 |
|
Cholestasis
|
0.600 |
Biomarker
|
disease |
BEFREE |
A number of compounds have been identified to interact with BSEP, which results in drug-induced cholestasis or liver injury.
|
28527154 |
2017 |
|
Cholestasis
|
0.600 |
Biomarker
|
disease |
BEFREE |
UDCA, which induced BSEP to increase bile acid-dependent bile flow, aggravated cholestasis and liver injury when the bile duct was obstructed in the acute stage of injury in model mice.
|
29407775 |
2018 |
|
Cholestasis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Four patients (three with FIC1 and one with BSEP) experienced recurrence of cholestasis and two underwent reoperation.Two BSEP patients underwent OLT.
|
29934967 |
2018 |