|
Cholestasis
|
0.300 |
Biomarker
|
disease |
MGD |
|
|
|
|
Cholestasis
|
0.300 |
AlteredExpression
|
disease |
BEFREE |
Among the hereditary human cholestasis, a subtype of progressive familial intrahepatic cholestasis with high gamma-glutamyltranspeptidase (GGT) serum activity shares histological, biochemical, and genetic features with mice lacking mdr2 gene expression (mdr2 -/- mice).
|
8666348 |
1996 |
|
Cholestasis
|
0.300 |
AlteredExpression
|
disease |
BEFREE |
In mice with various expression levels of Mdr2 or MDR3, the human homolog of Mdr2, we observed that the plasma level of cholesterol and phospholipid during cholestasis correlated very closely with the expression level of these canalicular P-glycoproteins.
|
9802889 |
1998 |
|
Cholestasis
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Those patients presenting high GGT-PFIC with early onset cholestasis but without MDR3 mutation probably had inheritable disorders remaining to be clarified.
|
11420418 |
2001 |
|
Cholestasis
|
0.300 |
Biomarker
|
disease |
BEFREE |
In addition, messenger RNA (mRNA) levels of multidrug resistance P-glycoprotein 3 (MDR3 Pgp) and phosphatidylcholine transfer protein (PCTP) were markedly low in the liver specimens compared with the levels in specimens of control subjects, gallbladder stone patients, and patients with obstructive cholestasis.
|
11343249 |
2001 |
|
Cholestasis
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Because phospholipids are a carrier and a solvent of cholesterol in hepatic bile, we hypothesized that a defect in the MDR3 gene could be the genetic basis for peculiar forms of cholesterol gallstone disease, in particular those associated with symptoms and cholestasis without evident common bile duct stone.
|
11313316 |
2001 |
|
Cholestasis
|
0.300 |
Biomarker
|
disease |
RGD |
Phospholipid alterations in hepatocyte membranes and transporter protein changes in cholestatic rat model.
|
11680581 |
2001 |
|
Cholestasis
|
0.300 |
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
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
In summary, our data support a role of ABCB11 and ABCB4 mutations and polymorphisms in drug-induced cholestasis.
|
17264802 |
2007 |
|
Cholestasis
|
0.300 |
Biomarker
|
disease |
BEFREE |
Defect in ABCB4 function causes the production of bile with low phospholipid content, increased lithogenicity and high detergent properties leading to bile duct luminal membrane injuries and resulting in cholestasis with increased serum gamma-glutamyltransferase (GGT) activity.
|
17562004 |
2007 |
|
Cholestasis
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Moreover, MDR3 mutations predispose to cholestasis of pregnancy and drug-induced cholestasis.
|
17295178 |
2007 |
|
Cholestasis
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.
|
18781607 |
2008 |
|
Cholestasis
|
0.300 |
Biomarker
|
disease |
BEFREE |
Between February 2004 and March 2007, all adults with unexplained cholestasis despite multiple investigations including liver biopsy and 124 healthy volunteers had ABCB4 sequencing.
|
18482588 |
2008 |
|
Cholestasis
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
MDR3 R652G is negatively correlated with idiopathic infant cholestasis.
|
19998509 |
2009 |
|
Cholestasis
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.
|
21989363 |
2012 |
|
Cholestasis
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
ABCB4(S320F) homozygosity, with half the normal level of ABCB4, is the tipping point between more benign and potentially fatal cholestasis and makes these patients more acutely sensitive to environmental effects.
|
24806754 |
2014 |
|
Cholestasis
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.
|
24914347 |
2014 |
|
Cholestasis
|
0.300 |
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
|
0.300 |
Biomarker
|
disease |
BEFREE |
Bcl3(-/-)Mdr2(-/-) mice developed more severe cholestasis and had increased markers of liver injury and increased proliferation of biliary epithelial cells and hepatocytes than Mdr2(-/-) mice.
|
26526716 |
2016 |
|
Cholestasis
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Our aim was to evaluate the impact of ABCB4 mutations on clinical expression of cholestasis in adult patients.
|
26324191 |
2016 |
|
Cholestasis
|
0.300 |
AlteredExpression
|
disease |
BEFREE |
Hepatic MDR3 expression impacts lipid homeostasis and susceptibility to inflammatory bile duct obstruction in neonates.
|
28355206 |
2017 |
|
Cholestasis
|
0.300 |
Biomarker
|
disease |
BEFREE |
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.
|
28733223 |
2017 |
|
Cholestasis
|
0.300 |
Biomarker
|
disease |
BEFREE |
ABCB4 deficiency also causes cholestasis, and might be expected to cause cholangitis and predispose to liver cancer.
|
28220208 |
2017 |
|
Cholestasis
|
0.300 |
AlteredExpression
|
disease |
BEFREE |
To elucidate the mechanisms of bile acid-induced liver injury, we assessed signs of liver damage and gene expression in Abcb4-/- mice, a well-known model for cholestasis.
|
28249287 |
2017 |
|
Cholestasis
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Thirty-three patients with unexplained cholestasis despite a thorough clinical work-up were examined for sequence variations in the coding regions of the ABCB4, ABCB11, ABCC2, ABCG5, ATP8B1, JAG1, NOTCH2, and UGT1A1 genes and the promoter region of UGT1A1 by massive parallel sequencing of DNA extracted from whole blood.
|
29304564 |
2018 |